Incidental Mutation 'R4667:Celf2'
ID |
351996 |
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 |
042012-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.449)
|
Stock # |
R4667 (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: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
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: 109 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad8 |
A |
G |
9: 26,901,923 (GRCm39) |
L147P |
probably damaging |
Het |
Adgra3 |
T |
A |
5: 50,136,298 (GRCm39) |
Y729F |
possibly damaging |
Het |
Ago2 |
A |
G |
15: 73,018,265 (GRCm39) |
Y58H |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,378,842 (GRCm39) |
T2128A |
probably damaging |
Het |
Ankhd1 |
C |
A |
18: 36,781,074 (GRCm39) |
P2042Q |
possibly damaging |
Het |
Arhgef15 |
T |
C |
11: 68,845,387 (GRCm39) |
K155R |
probably benign |
Het |
Atp10b |
T |
C |
11: 43,138,345 (GRCm39) |
F1209L |
probably damaging |
Het |
B130006D01Rik |
A |
T |
11: 95,617,335 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
T |
C |
1: 59,906,875 (GRCm39) |
L656S |
probably damaging |
Het |
Bnip5 |
G |
T |
17: 29,127,287 (GRCm39) |
Q241K |
possibly damaging |
Het |
Btbd17 |
A |
G |
11: 114,684,683 (GRCm39) |
F119L |
possibly damaging |
Het |
Ccdc191 |
G |
T |
16: 43,751,646 (GRCm39) |
K267N |
probably damaging |
Het |
Cd200l1 |
A |
G |
16: 45,264,526 (GRCm39) |
S11P |
probably benign |
Het |
Ceacam20 |
T |
C |
7: 19,719,952 (GRCm39) |
Y495H |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,774,715 (GRCm39) |
R119H |
probably benign |
Het |
Cemip2 |
C |
T |
19: 21,822,145 (GRCm39) |
A1180V |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,760,428 (GRCm39) |
S2058P |
possibly damaging |
Het |
Clcn6 |
T |
C |
4: 148,108,624 (GRCm39) |
E135G |
possibly damaging |
Het |
Cntn1 |
T |
A |
15: 92,192,960 (GRCm39) |
N687K |
probably damaging |
Het |
Col1a2 |
A |
T |
6: 4,512,412 (GRCm39) |
M99L |
unknown |
Het |
Cpeb2 |
T |
C |
5: 43,391,235 (GRCm39) |
|
probably benign |
Het |
Csn1s2b |
A |
G |
5: 87,970,170 (GRCm39) |
T134A |
possibly damaging |
Het |
Cst13 |
A |
T |
2: 148,665,001 (GRCm39) |
|
probably benign |
Het |
Cyp2c66 |
T |
A |
19: 39,165,100 (GRCm39) |
D360E |
probably damaging |
Het |
Dhx8 |
A |
G |
11: 101,628,987 (GRCm39) |
S179G |
unknown |
Het |
Dip2b |
A |
G |
15: 100,049,241 (GRCm39) |
I212V |
probably benign |
Het |
Dnah9 |
G |
A |
11: 66,046,357 (GRCm39) |
H64Y |
probably benign |
Het |
Dnal1 |
T |
C |
12: 84,183,474 (GRCm39) |
|
probably benign |
Het |
Dse |
T |
G |
10: 34,029,008 (GRCm39) |
Y694S |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,051,411 (GRCm39) |
I3175V |
probably benign |
Het |
Elf5 |
A |
G |
2: 103,279,405 (GRCm39) |
N209D |
probably damaging |
Het |
Elovl1 |
A |
G |
4: 118,287,984 (GRCm39) |
Y40C |
probably damaging |
Het |
Erp27 |
T |
C |
6: 136,885,150 (GRCm39) |
E216G |
possibly damaging |
Het |
F5 |
G |
A |
1: 164,001,755 (GRCm39) |
V153I |
probably benign |
Het |
Fam186a |
G |
A |
15: 99,842,413 (GRCm39) |
T1277I |
possibly damaging |
Het |
Fam90a1a |
A |
T |
8: 22,453,362 (GRCm39) |
H239L |
possibly damaging |
Het |
Fchsd2 |
G |
T |
7: 100,899,656 (GRCm39) |
R334L |
probably damaging |
Het |
Fermt3 |
T |
C |
19: 6,980,288 (GRCm39) |
Y369C |
probably damaging |
Het |
Fhod3 |
C |
T |
18: 25,199,395 (GRCm39) |
P689S |
probably benign |
Het |
Fnbp1l |
G |
T |
3: 122,350,216 (GRCm39) |
Q332K |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,390,049 (GRCm39) |
S1767P |
probably damaging |
Het |
Ggt5 |
T |
C |
10: 75,438,865 (GRCm39) |
L121P |
probably damaging |
Het |
Gphn |
T |
C |
12: 78,501,591 (GRCm39) |
S119P |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,781,001 (GRCm39) |
D1222G |
probably damaging |
Het |
Hmx3 |
T |
C |
7: 131,146,111 (GRCm39) |
I273T |
possibly damaging |
Het |
Hnrnpu |
A |
G |
1: 178,159,746 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,266,956 (GRCm39) |
T1987I |
possibly damaging |
Het |
Ighv1-22 |
T |
A |
12: 114,710,071 (GRCm39) |
Q58L |
probably damaging |
Het |
Ighv14-3 |
T |
A |
12: 114,023,875 (GRCm39) |
I7F |
probably benign |
Het |
Kcns3 |
C |
A |
12: 11,141,784 (GRCm39) |
R305L |
probably damaging |
Het |
Kcnu1 |
C |
T |
8: 26,400,949 (GRCm39) |
A699V |
possibly damaging |
Het |
Kif22 |
A |
C |
7: 126,632,500 (GRCm39) |
L270W |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,319,642 (GRCm39) |
H1960Q |
probably benign |
Het |
Marchf7 |
C |
T |
2: 60,071,394 (GRCm39) |
Q94* |
probably null |
Het |
Mcoln3 |
A |
T |
3: 145,836,959 (GRCm39) |
I264F |
probably benign |
Het |
Mdn1 |
A |
C |
4: 32,679,572 (GRCm39) |
T706P |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,917,636 (GRCm39) |
C137R |
probably benign |
Het |
Mmp25 |
A |
G |
17: 23,863,581 (GRCm39) |
V83A |
probably benign |
Het |
Mocos |
T |
C |
18: 24,799,491 (GRCm39) |
Y242H |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,292,234 (GRCm39) |
S330P |
possibly damaging |
Het |
Mtus2 |
T |
C |
5: 148,235,070 (GRCm39) |
S1156P |
possibly damaging |
Het |
Muc5b |
G |
A |
7: 141,396,116 (GRCm39) |
R124H |
unknown |
Het |
Mybbp1a |
G |
A |
11: 72,338,797 (GRCm39) |
E775K |
possibly damaging |
Het |
Myo10 |
A |
G |
15: 25,793,239 (GRCm39) |
E1272G |
possibly damaging |
Het |
Nars1 |
A |
G |
18: 64,638,302 (GRCm39) |
S254P |
possibly damaging |
Het |
Ncapd2 |
A |
G |
6: 125,161,481 (GRCm39) |
I211T |
possibly damaging |
Het |
Ncoa7 |
A |
T |
10: 30,566,786 (GRCm39) |
W582R |
probably damaging |
Het |
Npr3 |
T |
A |
15: 11,905,553 (GRCm39) |
D58V |
possibly damaging |
Het |
Nr3c1 |
G |
T |
18: 39,561,780 (GRCm39) |
T430K |
probably benign |
Het |
Odf2l |
A |
G |
3: 144,833,801 (GRCm39) |
T111A |
probably benign |
Het |
Ogdh |
G |
T |
11: 6,290,600 (GRCm39) |
C406F |
probably benign |
Het |
Olfml2a |
T |
G |
2: 38,839,022 (GRCm39) |
S190A |
probably damaging |
Het |
Optn |
T |
C |
2: 5,037,950 (GRCm39) |
K415E |
probably benign |
Het |
Or10n1 |
T |
C |
9: 39,525,034 (GRCm39) |
M57T |
probably damaging |
Het |
Or52a20 |
A |
G |
7: 103,365,845 (GRCm39) |
T15A |
probably benign |
Het |
Or8b12i |
T |
C |
9: 20,082,394 (GRCm39) |
I158V |
probably benign |
Het |
Or8g52 |
G |
T |
9: 39,631,005 (GRCm39) |
V161F |
probably benign |
Het |
Pakap |
A |
T |
4: 57,855,655 (GRCm39) |
D328V |
possibly damaging |
Het |
Perm1 |
C |
A |
4: 156,304,663 (GRCm39) |
S803* |
probably null |
Het |
Pex14 |
T |
C |
4: 149,068,542 (GRCm39) |
T84A |
probably benign |
Het |
Pih1d2 |
T |
A |
9: 50,532,252 (GRCm39) |
Y103* |
probably null |
Het |
Pikfyve |
T |
A |
1: 65,289,432 (GRCm39) |
C1235S |
probably damaging |
Het |
Polr1a |
A |
G |
6: 71,894,805 (GRCm39) |
N171S |
probably benign |
Het |
Prrx1 |
A |
G |
1: 163,081,616 (GRCm39) |
S201P |
probably benign |
Het |
Psme2b |
A |
T |
11: 48,836,493 (GRCm39) |
N151K |
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,800,025 (GRCm39) |
T72S |
probably benign |
Het |
Sgsm1 |
A |
G |
5: 113,407,913 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
T |
C |
8: 126,180,209 (GRCm39) |
R1063G |
possibly damaging |
Het |
Slc19a3 |
T |
C |
1: 83,000,520 (GRCm39) |
T166A |
probably benign |
Het |
Slc5a4b |
T |
C |
10: 75,910,879 (GRCm39) |
Y319C |
possibly damaging |
Het |
Stard3nl |
T |
A |
13: 19,560,689 (GRCm39) |
N29Y |
probably damaging |
Het |
Sult6b2 |
G |
T |
6: 142,747,421 (GRCm39) |
C109* |
probably null |
Het |
Tcf25 |
A |
G |
8: 124,123,764 (GRCm39) |
E467G |
possibly damaging |
Het |
Tmem177 |
A |
T |
1: 119,837,950 (GRCm39) |
V243D |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tspan11 |
T |
A |
6: 127,920,678 (GRCm39) |
C208* |
probably null |
Het |
Ttc1 |
A |
G |
11: 43,636,144 (GRCm39) |
V33A |
probably benign |
Het |
Tut4 |
G |
A |
4: 108,352,356 (GRCm39) |
E357K |
probably damaging |
Het |
Uck1 |
T |
A |
2: 32,146,046 (GRCm39) |
H283L |
probably damaging |
Het |
Utrn |
A |
C |
10: 12,573,797 (GRCm39) |
V1091G |
probably benign |
Het |
Vmn1r11 |
A |
T |
6: 57,114,483 (GRCm39) |
H49L |
probably damaging |
Het |
Vmn1r160 |
G |
T |
7: 22,571,478 (GRCm39) |
S277I |
probably benign |
Het |
Vmn1r18 |
A |
T |
6: 57,367,069 (GRCm39) |
S162T |
probably benign |
Het |
Vps37b |
A |
G |
5: 124,148,795 (GRCm39) |
L80P |
probably damaging |
Het |
Wfdc3 |
T |
C |
2: 164,585,006 (GRCm39) |
M1V |
probably null |
Het |
Wrn |
A |
T |
8: 33,814,366 (GRCm39) |
N116K |
probably benign |
Het |
Wscd2 |
G |
T |
5: 113,715,333 (GRCm39) |
G391V |
probably damaging |
Het |
Zfp286 |
A |
G |
11: 62,671,428 (GRCm39) |
V215A |
probably benign |
Het |
Zfp568 |
A |
G |
7: 29,722,702 (GRCm39) |
H549R |
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 |
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'- CCAAGATATCTAGGCAGCTCAG -3'
(R):5'- ATTAGGCACTTTCCCCTGTG -3'
Sequencing Primer
(F):5'- ATATCTAGGCAGCTCAGGGGTG -3'
(R):5'- ACTTTCCCCTGTGCTCCTC -3'
|
Posted On |
2015-10-08 |