Incidental Mutation 'R4668:Celf2'
ID |
352109 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.449)
|
Stock # |
R4668 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
6544505-7401345 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6726339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 47
(I47V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002176]
[ENSMUST00000100429]
[ENSMUST00000114923]
[ENSMUST00000114924]
[ENSMUST00000114927]
[ENSMUST00000114934]
[ENSMUST00000123142]
[ENSMUST00000182657]
[ENSMUST00000137733]
[ENSMUST00000183091]
[ENSMUST00000182851]
[ENSMUST00000170438]
[ENSMUST00000182879]
[ENSMUST00000150624]
[ENSMUST00000142941]
[ENSMUST00000182706]
[ENSMUST00000182404]
[ENSMUST00000183984]
[ENSMUST00000183209]
|
AlphaFold |
Q9Z0H4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002176
AA Change: I23V
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000002176 Gene: ENSMUSG00000002107 AA Change: I23V
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 benign
Transcript: ENSMUST00000100429
AA Change: I23V
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000097996 Gene: ENSMUSG00000002107 AA Change: I23V
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 benign
Transcript: ENSMUST00000114923
AA Change: I59V
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000110573 Gene: ENSMUSG00000002107 AA Change: I59V
Domain | Start | End | E-Value | Type |
RRM
|
41 |
120 |
1.6e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114924
AA Change: I65V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000110574 Gene: ENSMUSG00000002107 AA Change: I65V
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 benign
Transcript: ENSMUST00000114927
AA Change: I23V
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110577 Gene: ENSMUSG00000002107 AA Change: I23V
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 benign
Transcript: ENSMUST00000114934
AA Change: I65V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000110584 Gene: ENSMUSG00000002107 AA Change: I65V
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 benign
Transcript: ENSMUST00000123142
AA Change: I23V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000138666 Gene: ENSMUSG00000002107 AA Change: I23V
Domain | Start | End | E-Value | Type |
RRM
|
17 |
91 |
1.58e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182657
AA Change: I23V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182523
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137733
AA Change: I23V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000138694 Gene: ENSMUSG00000002107 AA Change: I23V
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 benign
Transcript: ENSMUST00000183091
AA Change: I47V
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138795 Gene: ENSMUSG00000002107 AA Change: I47V
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 benign
Transcript: ENSMUST00000182851
AA Change: I47V
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138363 Gene: ENSMUSG00000002107 AA Change: I47V
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 |
noncoding transcript
Transcript: ENSMUST00000126742
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170438
AA Change: I65V
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000130829 Gene: ENSMUSG00000002107 AA Change: I65V
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 benign
Transcript: ENSMUST00000182879
AA Change: I23V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000138359 Gene: ENSMUSG00000002107 AA Change: I23V
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 |
noncoding transcript
Transcript: ENSMUST00000182560
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150624
AA Change: I23V
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000138297 Gene: ENSMUSG00000002107 AA Change: I23V
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 benign
Transcript: ENSMUST00000142941
AA Change: I23V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000120459 Gene: ENSMUSG00000002107 AA Change: I23V
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 benign
Transcript: ENSMUST00000182706
AA Change: I59V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000138764 Gene: ENSMUSG00000002107 AA Change: I59V
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000183269
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183984
AA Change: I110V
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138974 Gene: ENSMUSG00000002107 AA Change: I110V
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 |
probably benign
Transcript: ENSMUST00000183209
AA Change: I59V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000138355 Gene: ENSMUSG00000002107 AA Change: I59V
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 105 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921528I07Rik |
A |
T |
9: 114,133,779 (GRCm39) |
|
noncoding transcript |
Het |
6430548M08Rik |
T |
C |
8: 120,887,153 (GRCm39) |
|
probably null |
Het |
Abca4 |
G |
A |
3: 121,948,948 (GRCm39) |
G531E |
possibly damaging |
Het |
Acad8 |
A |
G |
9: 26,901,923 (GRCm39) |
L147P |
probably damaging |
Het |
Acot10 |
T |
C |
15: 20,666,028 (GRCm39) |
S238G |
probably benign |
Het |
Adamtsl2 |
A |
T |
2: 26,985,487 (GRCm39) |
H457L |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,586,524 (GRCm39) |
T67S |
probably damaging |
Het |
Aox1 |
T |
G |
1: 58,373,853 (GRCm39) |
I838S |
possibly damaging |
Het |
Arnt2 |
T |
C |
7: 83,924,594 (GRCm39) |
N411S |
probably damaging |
Het |
Bmpr2 |
T |
C |
1: 59,906,875 (GRCm39) |
L656S |
probably damaging |
Het |
Carns1 |
A |
T |
19: 4,215,475 (GRCm39) |
Y902* |
probably null |
Het |
Cavin1 |
T |
C |
11: 100,849,622 (GRCm39) |
E336G |
probably damaging |
Het |
Cbl |
A |
T |
9: 44,065,145 (GRCm39) |
C728S |
probably benign |
Het |
Ccdc136 |
C |
A |
6: 29,411,280 (GRCm39) |
Q218K |
probably damaging |
Het |
Cdk19 |
C |
A |
10: 40,342,706 (GRCm39) |
T196K |
probably damaging |
Het |
Ceacam20 |
T |
C |
7: 19,719,952 (GRCm39) |
Y495H |
probably damaging |
Het |
Ces3a |
A |
C |
8: 105,780,055 (GRCm39) |
K299T |
probably damaging |
Het |
Cfap61 |
A |
T |
2: 145,985,056 (GRCm39) |
I967F |
probably damaging |
Het |
Cnksr1 |
C |
T |
4: 133,960,282 (GRCm39) |
|
probably benign |
Het |
Cped1 |
T |
C |
6: 22,237,652 (GRCm39) |
Y923H |
probably benign |
Het |
Crip3 |
T |
C |
17: 46,740,290 (GRCm39) |
L30P |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,073,905 (GRCm39) |
I2030T |
possibly damaging |
Het |
Ctse |
C |
A |
1: 131,590,487 (GRCm39) |
P70T |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,372,159 (GRCm39) |
F429L |
probably damaging |
Het |
Cyp2c66 |
T |
A |
19: 39,165,100 (GRCm39) |
D360E |
probably damaging |
Het |
D8Ertd738e |
A |
T |
8: 84,976,110 (GRCm39) |
L46* |
probably null |
Het |
Dcp2 |
T |
A |
18: 44,548,429 (GRCm39) |
|
probably null |
Het |
Ddx10 |
C |
A |
9: 53,010,513 (GRCm39) |
D834Y |
possibly damaging |
Het |
Ddx19a |
A |
T |
8: 111,705,716 (GRCm39) |
V245E |
probably damaging |
Het |
Dpf2 |
A |
C |
19: 5,954,515 (GRCm39) |
D130E |
probably benign |
Het |
Emc8 |
A |
T |
8: 121,394,518 (GRCm39) |
M67K |
probably damaging |
Het |
Ephb6 |
T |
C |
6: 41,591,536 (GRCm39) |
L231P |
possibly damaging |
Het |
Erp27 |
T |
C |
6: 136,885,150 (GRCm39) |
E216G |
possibly damaging |
Het |
Esco1 |
A |
T |
18: 10,594,734 (GRCm39) |
I184N |
possibly damaging |
Het |
Fdxacb1 |
T |
A |
9: 50,681,560 (GRCm39) |
D11E |
possibly damaging |
Het |
Fhod3 |
C |
T |
18: 25,199,395 (GRCm39) |
P689S |
probably benign |
Het |
Fnip1 |
T |
A |
11: 54,394,385 (GRCm39) |
S940R |
probably damaging |
Het |
Ganc |
G |
T |
2: 120,261,548 (GRCm39) |
V343F |
probably benign |
Het |
Gldn |
T |
A |
9: 54,239,302 (GRCm39) |
L228* |
probably null |
Het |
Gm1123 |
C |
T |
9: 98,891,426 (GRCm39) |
R341H |
probably damaging |
Het |
Gtf2f2 |
T |
C |
14: 76,155,078 (GRCm39) |
Y161C |
probably benign |
Het |
Gtf3c1 |
T |
C |
7: 125,266,510 (GRCm39) |
T979A |
probably damaging |
Het |
H4c1 |
A |
G |
13: 23,944,959 (GRCm39) |
V61A |
probably benign |
Het |
Hmcn2 |
G |
T |
2: 31,325,804 (GRCm39) |
R4277L |
probably benign |
Het |
Hsd17b6 |
T |
A |
10: 127,830,295 (GRCm39) |
|
probably null |
Het |
Igkv12-46 |
T |
C |
6: 69,741,781 (GRCm39) |
T25A |
probably damaging |
Het |
Inpp5e |
G |
A |
2: 26,291,006 (GRCm39) |
R354C |
probably damaging |
Het |
Jcad |
T |
A |
18: 4,680,221 (GRCm39) |
|
probably null |
Het |
Kcna10 |
G |
T |
3: 107,102,010 (GRCm39) |
A214S |
possibly damaging |
Het |
Kit |
T |
C |
5: 75,801,880 (GRCm39) |
|
probably null |
Het |
Kmt2a |
G |
A |
9: 44,735,869 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
C |
17: 68,059,429 (GRCm39) |
V604A |
probably benign |
Het |
Mesd |
T |
C |
7: 83,544,964 (GRCm39) |
V138A |
probably damaging |
Het |
Mmp13 |
T |
C |
9: 7,272,580 (GRCm39) |
F9S |
possibly damaging |
Het |
Mocos |
T |
C |
18: 24,799,491 (GRCm39) |
Y242H |
probably benign |
Het |
Mrc1 |
A |
C |
2: 14,298,297 (GRCm39) |
T718P |
probably damaging |
Het |
Msh6 |
T |
C |
17: 88,292,234 (GRCm39) |
S330P |
possibly damaging |
Het |
Myh10 |
A |
G |
11: 68,695,468 (GRCm39) |
K1532E |
probably damaging |
Het |
Nat9 |
T |
C |
11: 115,075,368 (GRCm39) |
N91S |
probably damaging |
Het |
Neto2 |
A |
T |
8: 86,367,691 (GRCm39) |
I351N |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 40,976,367 (GRCm39) |
N14D |
possibly damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,660 (GRCm39) |
T288A |
possibly damaging |
Het |
Nutm2 |
C |
A |
13: 50,627,033 (GRCm39) |
T396K |
probably benign |
Het |
Ogdhl |
A |
G |
14: 32,054,493 (GRCm39) |
T196A |
probably benign |
Het |
Omg |
T |
A |
11: 79,393,249 (GRCm39) |
N203I |
probably damaging |
Het |
Or52b4i |
A |
G |
7: 102,191,811 (GRCm39) |
I223V |
possibly damaging |
Het |
Or52r1b |
A |
T |
7: 102,691,058 (GRCm39) |
D119V |
probably benign |
Het |
Or5b101 |
A |
T |
19: 13,005,445 (GRCm39) |
F83I |
probably benign |
Het |
Pdgfrb |
A |
G |
18: 61,197,185 (GRCm39) |
Y207C |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,034,126 (GRCm39) |
|
probably benign |
Het |
Pgs1 |
C |
A |
11: 117,894,333 (GRCm39) |
H157N |
probably damaging |
Het |
Pik3c2a |
A |
G |
7: 115,957,923 (GRCm39) |
V1121A |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,289,432 (GRCm39) |
C1235S |
probably damaging |
Het |
Pms1 |
G |
A |
1: 53,228,633 (GRCm39) |
Q872* |
probably null |
Het |
Ptgs2 |
A |
G |
1: 149,976,835 (GRCm39) |
T23A |
probably benign |
Het |
Rgl1 |
T |
G |
1: 152,397,122 (GRCm39) |
R716S |
probably damaging |
Het |
Rif1 |
A |
G |
2: 52,001,964 (GRCm39) |
E1806G |
probably benign |
Het |
Ripor1 |
T |
C |
8: 106,341,284 (GRCm39) |
V39A |
probably benign |
Het |
Ryr2 |
G |
T |
13: 11,608,003 (GRCm39) |
T868N |
probably benign |
Het |
Sec22b |
A |
T |
3: 97,828,438 (GRCm39) |
D167V |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,149,423 (GRCm39) |
V810A |
probably damaging |
Het |
Shh |
T |
C |
5: 28,662,853 (GRCm39) |
*438W |
probably null |
Het |
Slc25a12 |
G |
A |
2: 71,145,406 (GRCm39) |
S178L |
probably benign |
Het |
Sorl1 |
A |
T |
9: 41,895,804 (GRCm39) |
W1784R |
probably damaging |
Het |
Sp3 |
A |
T |
2: 72,801,325 (GRCm39) |
S229R |
probably damaging |
Het |
Spata31f3 |
A |
G |
4: 42,871,608 (GRCm39) |
F256L |
probably benign |
Het |
Spdye4c |
G |
A |
2: 128,434,273 (GRCm39) |
V5I |
possibly damaging |
Het |
Spint2 |
A |
T |
7: 28,959,804 (GRCm39) |
V53D |
probably damaging |
Het |
Stard3nl |
T |
A |
13: 19,560,689 (GRCm39) |
N29Y |
probably damaging |
Het |
Stk25 |
A |
G |
1: 93,553,205 (GRCm39) |
S299P |
probably damaging |
Het |
Sult2a3 |
A |
G |
7: 13,856,786 (GRCm39) |
S45P |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,408,967 (GRCm39) |
V685E |
probably damaging |
Het |
Tm9sf4 |
T |
A |
2: 153,029,228 (GRCm39) |
V92D |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Topors |
G |
A |
4: 40,262,669 (GRCm39) |
T205I |
probably damaging |
Het |
Tpo |
T |
A |
12: 30,153,289 (GRCm39) |
Y355F |
probably benign |
Het |
Uba1y |
T |
A |
Y: 826,032 (GRCm39) |
M396K |
possibly damaging |
Het |
Vmn1r50 |
A |
T |
6: 90,084,513 (GRCm39) |
Q86L |
probably benign |
Het |
Vmn1r77 |
A |
G |
7: 11,775,358 (GRCm39) |
K45E |
probably damaging |
Het |
Vmn2r114 |
A |
C |
17: 23,529,447 (GRCm39) |
N218K |
possibly damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,643,905 (GRCm39) |
N835I |
probably damaging |
Het |
Vps54 |
T |
G |
11: 21,249,989 (GRCm39) |
N458K |
probably benign |
Het |
Zcchc7 |
G |
T |
4: 44,895,964 (GRCm39) |
C304F |
probably damaging |
Het |
Zfp335 |
A |
T |
2: 164,742,206 (GRCm39) |
C593S |
probably damaging |
Het |
Zmynd15 |
C |
G |
11: 70,353,414 (GRCm39) |
P214R |
probably damaging |
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 |
R0711:Celf2
|
UTSW |
2 |
6,726,226 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- AGATATCTAGGCAGCTCAGGG -3'
(R):5'- ATTAGGCACTTTCCCCTGTG -3'
Sequencing Primer
(F):5'- TGCCCACCGCAGTCACTAAG -3'
(R):5'- ACTTTCCCCTGTGCTCCTC -3'
|
Posted On |
2015-10-08 |