Incidental Mutation 'R0711:Celf2'
ID |
62718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Celf2
|
Ensembl Gene |
ENSMUSG00000002107 |
Gene Name |
CUGBP, Elav-like family member 2 |
Synonyms |
Cugbp2, B230345P09Rik, Napor-2, ETR-3 |
MMRRC Submission |
038894-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.449)
|
Stock # |
R0711 (G1)
|
Quality Score |
100 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
6544505-7401345 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 6726226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138355
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002176]
[ENSMUST00000002176]
[ENSMUST00000100429]
[ENSMUST00000100429]
[ENSMUST00000114923]
[ENSMUST00000114923]
[ENSMUST00000114924]
[ENSMUST00000114924]
[ENSMUST00000114927]
[ENSMUST00000114927]
[ENSMUST00000114934]
[ENSMUST00000114934]
[ENSMUST00000123142]
[ENSMUST00000123142]
[ENSMUST00000137733]
[ENSMUST00000137733]
[ENSMUST00000142941]
[ENSMUST00000142941]
[ENSMUST00000150624]
[ENSMUST00000150624]
[ENSMUST00000170438]
[ENSMUST00000170438]
[ENSMUST00000182706]
[ENSMUST00000182706]
[ENSMUST00000182657]
[ENSMUST00000182404]
[ENSMUST00000182851]
[ENSMUST00000182851]
[ENSMUST00000182879]
[ENSMUST00000182879]
[ENSMUST00000183091]
[ENSMUST00000183091]
[ENSMUST00000183209]
[ENSMUST00000183209]
[ENSMUST00000183984]
|
AlphaFold |
Q9Z0H4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002176
|
SMART Domains |
Protein: ENSMUSP00000002176 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
326 |
355 |
N/A |
INTRINSIC |
low complexity region
|
379 |
392 |
N/A |
INTRINSIC |
RRM
|
400 |
473 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000002176
|
SMART Domains |
Protein: ENSMUSP00000002176 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
326 |
355 |
N/A |
INTRINSIC |
low complexity region
|
379 |
392 |
N/A |
INTRINSIC |
RRM
|
400 |
473 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100429
|
SMART Domains |
Protein: ENSMUSP00000097996 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
low complexity region
|
385 |
398 |
N/A |
INTRINSIC |
RRM
|
406 |
479 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100429
|
SMART Domains |
Protein: ENSMUSP00000097996 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
low complexity region
|
385 |
398 |
N/A |
INTRINSIC |
RRM
|
406 |
479 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114923
|
SMART Domains |
Protein: ENSMUSP00000110573 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
41 |
120 |
1.6e-15 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114923
|
SMART Domains |
Protein: ENSMUSP00000110573 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
41 |
120 |
1.6e-15 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114924
|
SMART Domains |
Protein: ENSMUSP00000110574 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
59 |
137 |
1.29e-17 |
SMART |
RRM
|
151 |
226 |
4.22e-22 |
SMART |
low complexity region
|
236 |
265 |
N/A |
INTRINSIC |
low complexity region
|
294 |
321 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
low complexity region
|
368 |
397 |
N/A |
INTRINSIC |
low complexity region
|
421 |
434 |
N/A |
INTRINSIC |
RRM
|
442 |
515 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114924
|
SMART Domains |
Protein: ENSMUSP00000110574 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
59 |
137 |
1.29e-17 |
SMART |
RRM
|
151 |
226 |
4.22e-22 |
SMART |
low complexity region
|
236 |
265 |
N/A |
INTRINSIC |
low complexity region
|
294 |
321 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
low complexity region
|
368 |
397 |
N/A |
INTRINSIC |
low complexity region
|
421 |
434 |
N/A |
INTRINSIC |
RRM
|
442 |
515 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114927
|
SMART Domains |
Protein: ENSMUSP00000110577 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
341 |
359 |
N/A |
INTRINSIC |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
RRM
|
404 |
477 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114927
|
SMART Domains |
Protein: ENSMUSP00000110577 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
341 |
359 |
N/A |
INTRINSIC |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
RRM
|
404 |
477 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114934
|
SMART Domains |
Protein: ENSMUSP00000110584 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
59 |
137 |
1.29e-17 |
SMART |
RRM
|
151 |
226 |
4.22e-22 |
SMART |
low complexity region
|
236 |
265 |
N/A |
INTRINSIC |
low complexity region
|
294 |
321 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
low complexity region
|
368 |
397 |
N/A |
INTRINSIC |
low complexity region
|
421 |
434 |
N/A |
INTRINSIC |
RRM
|
442 |
515 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114934
|
SMART Domains |
Protein: ENSMUSP00000110584 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
59 |
137 |
1.29e-17 |
SMART |
RRM
|
151 |
226 |
4.22e-22 |
SMART |
low complexity region
|
236 |
265 |
N/A |
INTRINSIC |
low complexity region
|
294 |
321 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
low complexity region
|
368 |
397 |
N/A |
INTRINSIC |
low complexity region
|
421 |
434 |
N/A |
INTRINSIC |
RRM
|
442 |
515 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123142
|
SMART Domains |
Protein: ENSMUSP00000138666 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
91 |
1.58e-12 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123142
|
SMART Domains |
Protein: ENSMUSP00000138666 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
91 |
1.58e-12 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137733
|
SMART Domains |
Protein: ENSMUSP00000138694 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
internal_repeat_1
|
109 |
134 |
2.62e-5 |
PROSPERO |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137733
|
SMART Domains |
Protein: ENSMUSP00000138694 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
internal_repeat_1
|
109 |
134 |
2.62e-5 |
PROSPERO |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142941
|
SMART Domains |
Protein: ENSMUSP00000120459 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
low complexity region
|
385 |
398 |
N/A |
INTRINSIC |
RRM
|
406 |
479 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142941
|
SMART Domains |
Protein: ENSMUSP00000120459 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
low complexity region
|
385 |
398 |
N/A |
INTRINSIC |
RRM
|
406 |
479 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150624
|
SMART Domains |
Protein: ENSMUSP00000138297 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
341 |
359 |
N/A |
INTRINSIC |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
RRM
|
404 |
477 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150624
|
SMART Domains |
Protein: ENSMUSP00000138297 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
low complexity region
|
341 |
359 |
N/A |
INTRINSIC |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
RRM
|
404 |
477 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170438
|
SMART Domains |
Protein: ENSMUSP00000130829 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
59 |
137 |
1.29e-17 |
SMART |
RRM
|
151 |
226 |
4.22e-22 |
SMART |
low complexity region
|
236 |
265 |
N/A |
INTRINSIC |
low complexity region
|
294 |
321 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
RRM
|
384 |
467 |
4.92e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170438
|
SMART Domains |
Protein: ENSMUSP00000130829 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
59 |
137 |
1.29e-17 |
SMART |
RRM
|
151 |
226 |
4.22e-22 |
SMART |
low complexity region
|
236 |
265 |
N/A |
INTRINSIC |
low complexity region
|
294 |
321 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
RRM
|
384 |
467 |
4.92e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182706
|
SMART Domains |
Protein: ENSMUSP00000138764 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
53 |
131 |
1.29e-17 |
SMART |
RRM
|
145 |
220 |
4.22e-22 |
SMART |
low complexity region
|
230 |
259 |
N/A |
INTRINSIC |
low complexity region
|
288 |
315 |
N/A |
INTRINSIC |
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
low complexity region
|
362 |
391 |
N/A |
INTRINSIC |
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
RRM
|
436 |
509 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182706
|
SMART Domains |
Protein: ENSMUSP00000138764 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
53 |
131 |
1.29e-17 |
SMART |
RRM
|
145 |
220 |
4.22e-22 |
SMART |
low complexity region
|
230 |
259 |
N/A |
INTRINSIC |
low complexity region
|
288 |
315 |
N/A |
INTRINSIC |
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
low complexity region
|
362 |
391 |
N/A |
INTRINSIC |
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
RRM
|
436 |
509 |
3.2e-22 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138347
|
SMART Domains |
Protein: ENSMUSP00000114914 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
24 |
102 |
1.29e-17 |
SMART |
RRM
|
116 |
184 |
1.64e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182560
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126742
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182523
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182657
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182404
|
SMART Domains |
Protein: ENSMUSP00000138769 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
22 |
97 |
4.22e-22 |
SMART |
low complexity region
|
107 |
136 |
N/A |
INTRINSIC |
low complexity region
|
165 |
192 |
N/A |
INTRINSIC |
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
low complexity region
|
254 |
272 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182851
|
SMART Domains |
Protein: ENSMUSP00000138363 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
41 |
119 |
1.29e-17 |
SMART |
RRM
|
133 |
208 |
4.22e-22 |
SMART |
low complexity region
|
218 |
247 |
N/A |
INTRINSIC |
low complexity region
|
276 |
303 |
N/A |
INTRINSIC |
low complexity region
|
305 |
317 |
N/A |
INTRINSIC |
low complexity region
|
350 |
379 |
N/A |
INTRINSIC |
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
RRM
|
424 |
497 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182851
|
SMART Domains |
Protein: ENSMUSP00000138363 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
41 |
119 |
1.29e-17 |
SMART |
RRM
|
133 |
208 |
4.22e-22 |
SMART |
low complexity region
|
218 |
247 |
N/A |
INTRINSIC |
low complexity region
|
276 |
303 |
N/A |
INTRINSIC |
low complexity region
|
305 |
317 |
N/A |
INTRINSIC |
low complexity region
|
350 |
379 |
N/A |
INTRINSIC |
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
RRM
|
424 |
497 |
3.2e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182879
|
SMART Domains |
Protein: ENSMUSP00000138359 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
RRM
|
346 |
429 |
4.92e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182879
|
SMART Domains |
Protein: ENSMUSP00000138359 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
1.29e-17 |
SMART |
RRM
|
109 |
184 |
4.22e-22 |
SMART |
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
RRM
|
346 |
429 |
4.92e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183091
|
SMART Domains |
Protein: ENSMUSP00000138795 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
41 |
119 |
1.29e-17 |
SMART |
RRM
|
133 |
208 |
4.22e-22 |
SMART |
low complexity region
|
218 |
247 |
N/A |
INTRINSIC |
low complexity region
|
276 |
303 |
N/A |
INTRINSIC |
low complexity region
|
305 |
317 |
N/A |
INTRINSIC |
RRM
|
366 |
449 |
4.92e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183091
|
SMART Domains |
Protein: ENSMUSP00000138795 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
41 |
119 |
1.29e-17 |
SMART |
RRM
|
133 |
208 |
4.22e-22 |
SMART |
low complexity region
|
218 |
247 |
N/A |
INTRINSIC |
low complexity region
|
276 |
303 |
N/A |
INTRINSIC |
low complexity region
|
305 |
317 |
N/A |
INTRINSIC |
RRM
|
366 |
449 |
4.92e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183209
|
SMART Domains |
Protein: ENSMUSP00000138355 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
53 |
131 |
1.29e-17 |
SMART |
RRM
|
145 |
220 |
4.22e-22 |
SMART |
low complexity region
|
230 |
259 |
N/A |
INTRINSIC |
low complexity region
|
288 |
315 |
N/A |
INTRINSIC |
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
RRM
|
378 |
461 |
4.92e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183209
|
SMART Domains |
Protein: ENSMUSP00000138355 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
RRM
|
53 |
131 |
1.29e-17 |
SMART |
RRM
|
145 |
220 |
4.22e-22 |
SMART |
low complexity region
|
230 |
259 |
N/A |
INTRINSIC |
low complexity region
|
288 |
315 |
N/A |
INTRINSIC |
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
RRM
|
378 |
461 |
4.92e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183984
|
SMART Domains |
Protein: ENSMUSP00000138974 Gene: ENSMUSG00000002107
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
54 |
N/A |
INTRINSIC |
RRM
|
104 |
182 |
1.29e-17 |
SMART |
RRM
|
196 |
271 |
4.22e-22 |
SMART |
low complexity region
|
281 |
310 |
N/A |
INTRINSIC |
low complexity region
|
339 |
366 |
N/A |
INTRINSIC |
low complexity region
|
368 |
380 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183269
|
Meta Mutation Damage Score |
0.9504 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 91.4%
|
Validation Efficiency |
100% (91/91) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,773,986 (GRCm39) |
D1058E |
probably damaging |
Het |
4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
Afdn |
C |
T |
17: 14,072,698 (GRCm39) |
P874S |
probably damaging |
Het |
Ankrd6 |
G |
A |
4: 32,815,326 (GRCm39) |
A391V |
probably damaging |
Het |
Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
Asxl3 |
G |
T |
18: 22,657,508 (GRCm39) |
M1839I |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
Chid1 |
C |
T |
7: 141,076,590 (GRCm39) |
V325I |
probably benign |
Het |
Cnn3 |
T |
A |
3: 121,243,633 (GRCm39) |
D31E |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,559,317 (GRCm39) |
P1857L |
probably damaging |
Het |
Cpeb1 |
T |
A |
7: 81,001,618 (GRCm39) |
R430W |
probably benign |
Het |
Daw1 |
T |
C |
1: 83,169,059 (GRCm39) |
|
probably benign |
Het |
Dcaf13 |
A |
G |
15: 39,001,484 (GRCm39) |
Y264C |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,064,585 (GRCm39) |
I2666V |
probably damaging |
Het |
Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
Dock10 |
A |
T |
1: 80,501,692 (GRCm39) |
F1833I |
probably damaging |
Het |
Efhd2 |
C |
T |
4: 141,587,183 (GRCm39) |
A200T |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
Gkn2 |
T |
C |
6: 87,350,401 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
A |
T |
16: 36,739,152 (GRCm39) |
Q2497L |
probably damaging |
Het |
Gzme |
A |
T |
14: 56,355,196 (GRCm39) |
M245K |
probably damaging |
Het |
Iars2 |
A |
T |
1: 185,054,585 (GRCm39) |
|
probably benign |
Het |
Icosl |
T |
A |
10: 77,909,775 (GRCm39) |
V240D |
probably damaging |
Het |
Igsf3 |
T |
C |
3: 101,334,709 (GRCm39) |
M262T |
probably benign |
Het |
Ing3 |
G |
T |
6: 21,971,236 (GRCm39) |
E336* |
probably null |
Het |
Kat2a |
A |
T |
11: 100,597,297 (GRCm39) |
V625E |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
Mdfi |
A |
T |
17: 48,143,855 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,192,179 (GRCm39) |
|
probably benign |
Het |
Msh6 |
C |
T |
17: 88,294,112 (GRCm39) |
R956C |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,774,664 (GRCm39) |
E670G |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
Or4s2b |
A |
G |
2: 88,509,018 (GRCm39) |
D266G |
probably damaging |
Het |
Or51ai2 |
G |
A |
7: 103,587,024 (GRCm39) |
A146T |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,899,447 (GRCm39) |
N54K |
probably benign |
Het |
Pde8b |
C |
G |
13: 95,244,325 (GRCm39) |
S143T |
possibly damaging |
Het |
Pias4 |
G |
T |
10: 80,993,364 (GRCm39) |
|
probably benign |
Het |
Prkca |
A |
G |
11: 107,872,480 (GRCm39) |
Y427H |
probably benign |
Het |
Psg25 |
G |
A |
7: 18,263,485 (GRCm39) |
Q113* |
probably null |
Het |
Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,938,756 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,793,970 (GRCm39) |
|
probably benign |
Het |
Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
Serpinb9f |
T |
A |
13: 33,511,904 (GRCm39) |
W136R |
probably damaging |
Het |
Skic3 |
C |
T |
13: 76,331,010 (GRCm39) |
P1480L |
probably damaging |
Het |
Skint10 |
C |
A |
4: 112,573,102 (GRCm39) |
|
probably benign |
Het |
Slc25a13 |
T |
C |
6: 6,117,128 (GRCm39) |
T196A |
probably damaging |
Het |
Slc26a5 |
T |
C |
5: 22,052,230 (GRCm39) |
H33R |
probably damaging |
Het |
Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,987,251 (GRCm39) |
Y819N |
probably damaging |
Het |
Spata46 |
C |
T |
1: 170,139,603 (GRCm39) |
Q201* |
probably null |
Het |
Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
Taf6l |
A |
G |
19: 8,755,881 (GRCm39) |
F256L |
probably benign |
Het |
Tmco3 |
T |
A |
8: 13,342,039 (GRCm39) |
N104K |
probably damaging |
Het |
Tmem200c |
A |
G |
17: 69,149,249 (GRCm39) |
T611A |
probably damaging |
Het |
Tmem202 |
T |
G |
9: 59,432,655 (GRCm39) |
Y24S |
probably damaging |
Het |
Tpp1 |
A |
G |
7: 105,398,626 (GRCm39) |
L230P |
probably damaging |
Het |
Trim56 |
C |
T |
5: 137,141,846 (GRCm39) |
E557K |
probably benign |
Het |
Trrap |
C |
T |
5: 144,790,309 (GRCm39) |
L3590F |
probably damaging |
Het |
Tulp4 |
A |
G |
17: 6,189,387 (GRCm39) |
T70A |
possibly damaging |
Het |
Vcp |
G |
C |
4: 42,986,201 (GRCm39) |
A297G |
probably benign |
Het |
Vwf |
T |
A |
6: 125,603,234 (GRCm39) |
H861Q |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,599,751 (GRCm39) |
I536T |
probably benign |
Het |
Zfp850 |
T |
C |
7: 27,689,698 (GRCm39) |
N170S |
probably benign |
Het |
Zfp87 |
G |
A |
13: 74,524,544 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Celf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00925:Celf2
|
APN |
2 |
6,726,388 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01974:Celf2
|
APN |
2 |
6,608,842 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02159:Celf2
|
APN |
2 |
6,608,988 (GRCm39) |
nonsense |
probably null |
|
LCD18:Celf2
|
UTSW |
2 |
6,779,076 (GRCm38) |
intron |
probably benign |
|
R0113:Celf2
|
UTSW |
2 |
6,629,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Celf2
|
UTSW |
2 |
6,608,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R1755:Celf2
|
UTSW |
2 |
6,889,769 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R1802:Celf2
|
UTSW |
2 |
6,554,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R1898:Celf2
|
UTSW |
2 |
6,608,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Celf2
|
UTSW |
2 |
6,620,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R2422:Celf2
|
UTSW |
2 |
6,558,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R2848:Celf2
|
UTSW |
2 |
6,608,936 (GRCm39) |
missense |
probably damaging |
0.96 |
R2849:Celf2
|
UTSW |
2 |
6,608,936 (GRCm39) |
missense |
probably damaging |
0.96 |
R3708:Celf2
|
UTSW |
2 |
6,629,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R4295:Celf2
|
UTSW |
2 |
6,608,875 (GRCm39) |
missense |
probably benign |
0.10 |
R4601:Celf2
|
UTSW |
2 |
6,590,831 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4602:Celf2
|
UTSW |
2 |
6,590,831 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4610:Celf2
|
UTSW |
2 |
6,590,831 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4611:Celf2
|
UTSW |
2 |
6,590,831 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4667:Celf2
|
UTSW |
2 |
6,726,339 (GRCm39) |
missense |
probably benign |
0.44 |
R4668:Celf2
|
UTSW |
2 |
6,726,339 (GRCm39) |
missense |
probably benign |
0.44 |
R4669:Celf2
|
UTSW |
2 |
6,726,339 (GRCm39) |
missense |
probably benign |
0.44 |
R4790:Celf2
|
UTSW |
2 |
6,554,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R5022:Celf2
|
UTSW |
2 |
6,612,658 (GRCm39) |
intron |
probably benign |
|
R5369:Celf2
|
UTSW |
2 |
7,085,892 (GRCm39) |
intron |
probably benign |
|
R5540:Celf2
|
UTSW |
2 |
6,558,743 (GRCm39) |
missense |
probably benign |
0.43 |
R5805:Celf2
|
UTSW |
2 |
6,558,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R5913:Celf2
|
UTSW |
2 |
7,085,969 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R6330:Celf2
|
UTSW |
2 |
6,889,766 (GRCm39) |
missense |
probably benign |
0.05 |
R7505:Celf2
|
UTSW |
2 |
6,629,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R7662:Celf2
|
UTSW |
2 |
6,558,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R8316:Celf2
|
UTSW |
2 |
6,551,914 (GRCm39) |
missense |
probably benign |
0.03 |
R8437:Celf2
|
UTSW |
2 |
6,551,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R8860:Celf2
|
UTSW |
2 |
6,565,468 (GRCm39) |
critical splice donor site |
probably null |
|
R9170:Celf2
|
UTSW |
2 |
6,554,646 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9373:Celf2
|
UTSW |
2 |
6,551,915 (GRCm39) |
missense |
probably benign |
0.24 |
R9374:Celf2
|
UTSW |
2 |
6,590,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9382:Celf2
|
UTSW |
2 |
6,726,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R9623:Celf2
|
UTSW |
2 |
6,620,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R9626:Celf2
|
UTSW |
2 |
6,590,835 (GRCm39) |
missense |
probably benign |
0.33 |
R9718:Celf2
|
UTSW |
2 |
6,726,349 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Celf2
|
UTSW |
2 |
6,558,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTCATAGGAGCAATCAGGAGACC -3'
(R):5'- TTTGGATCATTCAGACCAGCCAGAC -3'
Sequencing Primer
(F):5'- AATTCTGGGAGGAGCCCTG -3'
(R):5'- CCCAGATGCCATTAAGATGTTTGTC -3'
|
Posted On |
2013-07-30 |