Incidental Mutation 'R4601:Celf2'
| ID |
345596 |
| 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 # |
R4601 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
6544505-7401345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6590831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 279
(N279K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002176]
[ENSMUST00000100429]
[ENSMUST00000114924]
[ENSMUST00000114927]
[ENSMUST00000114934]
[ENSMUST00000142941]
[ENSMUST00000150624]
[ENSMUST00000183984]
[ENSMUST00000170438]
[ENSMUST00000183209]
[ENSMUST00000182879]
[ENSMUST00000182851]
[ENSMUST00000182404]
[ENSMUST00000183091]
[ENSMUST00000182706]
|
| AlphaFold |
Q9Z0H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002176
AA Change: N279K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: N279K
| 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: N279K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: N279K
| 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: ENSMUST00000114924
AA Change: N321K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: N321K
| 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 |
possibly damaging
Transcript: ENSMUST00000114927
AA Change: N279K
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: N279K
| 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: N321K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: N321K
| 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: ENSMUST00000142941
AA Change: N279K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: N279K
| 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 |
possibly damaging
Transcript: ENSMUST00000150624
AA Change: N279K
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: N279K
| 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 |
noncoding transcript
Transcript: ENSMUST00000183269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183984
AA Change: N366K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107
AA Change: N366K
| 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: ENSMUST00000170438
AA Change: N321K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: N321K
| 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: ENSMUST00000183209
AA Change: N315K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: N315K
| 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: ENSMUST00000182879
AA Change: N279K
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: N279K
| 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: ENSMUST00000182355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182851
AA Change: N303K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: N303K
| 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 benign
Transcript: ENSMUST00000182404
AA Change: N192K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107
AA Change: N192K
| 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 benign
Transcript: ENSMUST00000183091
AA Change: N303K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: N303K
| 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: ENSMUST00000182706
AA Change: N315K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: N315K
| 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 |
|
| Meta Mutation Damage Score |
0.0615 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,827,847 (GRCm39) |
D555E |
probably damaging |
Het |
| Abca16 |
T |
G |
7: 120,035,920 (GRCm39) |
F334L |
probably damaging |
Het |
| Abcc4 |
T |
A |
14: 118,869,575 (GRCm39) |
M186L |
probably benign |
Het |
| Agap3 |
T |
C |
5: 24,681,406 (GRCm39) |
L120P |
probably damaging |
Het |
| Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
| Aldh1a7 |
A |
T |
19: 20,693,343 (GRCm39) |
V192D |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,520,102 (GRCm39) |
D59G |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,347,359 (GRCm39) |
V936A |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,823,295 (GRCm39) |
V107A |
probably damaging |
Het |
| Camp |
T |
C |
9: 109,677,730 (GRCm39) |
E80G |
probably damaging |
Het |
| Cblif |
A |
C |
19: 11,729,554 (GRCm39) |
D171A |
probably damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,222,377 (GRCm39) |
N122S |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,901,204 (GRCm39) |
T960M |
possibly damaging |
Het |
| Cdk18 |
A |
G |
1: 132,044,657 (GRCm39) |
V323A |
possibly damaging |
Het |
| Cemip |
T |
C |
7: 83,600,826 (GRCm39) |
I932V |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,803,973 (GRCm39) |
Q28K |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,676,596 (GRCm39) |
C97R |
probably damaging |
Het |
| Cfap126 |
G |
T |
1: 170,941,627 (GRCm39) |
G41C |
possibly damaging |
Het |
| Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,146,112 (GRCm39) |
M354V |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,632,945 (GRCm39) |
D168E |
possibly damaging |
Het |
| Cpxm1 |
T |
A |
2: 130,235,496 (GRCm39) |
M499L |
possibly damaging |
Het |
| Dennd3 |
T |
A |
15: 73,439,009 (GRCm39) |
W1126R |
probably damaging |
Het |
| Dgkb |
T |
C |
12: 38,652,819 (GRCm39) |
S735P |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,976,202 (GRCm39) |
|
probably null |
Het |
| Dnajc6 |
T |
C |
4: 101,468,461 (GRCm39) |
F166L |
probably damaging |
Het |
| Dph5 |
A |
G |
3: 115,693,426 (GRCm39) |
N115D |
possibly damaging |
Het |
| Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,470,375 (GRCm39) |
D136V |
unknown |
Het |
| Exoc2 |
T |
C |
13: 31,066,251 (GRCm39) |
N475S |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,285 (GRCm39) |
D310G |
probably damaging |
Het |
| Fam53a |
C |
T |
5: 33,758,007 (GRCm39) |
S372N |
probably benign |
Het |
| Fbn2 |
C |
G |
18: 58,186,805 (GRCm39) |
G1699R |
probably damaging |
Het |
| Fbxo46 |
T |
C |
7: 18,869,489 (GRCm39) |
V36A |
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,648,487 (GRCm39) |
M26V |
probably damaging |
Het |
| G6pc1 |
A |
G |
11: 101,263,567 (GRCm39) |
Y127C |
probably damaging |
Het |
| Gba2 |
A |
G |
4: 43,573,810 (GRCm39) |
F161L |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,325 (GRCm39) |
L228P |
probably damaging |
Het |
| Gm20834 |
A |
G |
Y: 10,323,178 (GRCm39) |
V86A |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,614,396 (GRCm39) |
C1337S |
probably damaging |
Het |
| Il1rl1 |
T |
A |
1: 40,480,460 (GRCm39) |
S30T |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,896,548 (GRCm39) |
T1436A |
probably damaging |
Het |
| Itk |
T |
A |
11: 46,227,342 (GRCm39) |
Q427L |
probably benign |
Het |
| Klhdc4 |
T |
C |
8: 122,526,266 (GRCm39) |
E291G |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,881,887 (GRCm39) |
S250R |
possibly damaging |
Het |
| Mnt |
T |
A |
11: 74,727,285 (GRCm39) |
V57E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,881,844 (GRCm39) |
K736R |
probably benign |
Het |
| Musk |
A |
T |
4: 58,301,625 (GRCm39) |
I128F |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,141,136 (GRCm39) |
A733T |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,043,670 (GRCm39) |
F220I |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,091,361 (GRCm39) |
H305R |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,637,839 (GRCm39) |
Y1132F |
probably damaging |
Het |
| Nt5c3b |
A |
C |
11: 100,323,744 (GRCm39) |
D189E |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,333,683 (GRCm39) |
L331P |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,887,977 (GRCm39) |
T646I |
probably benign |
Het |
| Or14j9 |
T |
C |
17: 37,875,076 (GRCm39) |
N42S |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,699,174 (GRCm39) |
E1096G |
probably damaging |
Het |
| Pgm2 |
T |
A |
5: 64,265,070 (GRCm39) |
F364I |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,273,421 (GRCm39) |
N612S |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Ppp3cb |
T |
C |
14: 20,570,714 (GRCm39) |
N339S |
possibly damaging |
Het |
| Prkd2 |
G |
T |
7: 16,577,573 (GRCm39) |
|
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,041 (GRCm39) |
E296G |
possibly damaging |
Het |
| Sav1 |
A |
T |
12: 70,031,095 (GRCm39) |
D142E |
probably benign |
Het |
| Scn3b |
C |
A |
9: 40,199,719 (GRCm39) |
P212T |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,799,827 (GRCm39) |
|
probably null |
Het |
| Septin9 |
A |
G |
11: 117,251,310 (GRCm39) |
K543E |
probably damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
| Slc35e2 |
T |
C |
4: 155,702,106 (GRCm39) |
F290S |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,894,958 (GRCm39) |
M1T |
probably null |
Het |
| Sptlc3 |
G |
A |
2: 139,478,600 (GRCm39) |
V520I |
probably benign |
Het |
| Srpk3 |
A |
G |
X: 72,818,547 (GRCm39) |
H79R |
possibly damaging |
Het |
| Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
| Stradb |
G |
A |
1: 59,032,731 (GRCm39) |
S361N |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,658,083 (GRCm39) |
K10R |
probably benign |
Het |
| Susd4 |
A |
G |
1: 182,686,025 (GRCm39) |
N192D |
probably damaging |
Het |
| Tcp10a |
T |
A |
17: 7,593,374 (GRCm39) |
D32E |
probably benign |
Het |
| Tdpoz4 |
T |
A |
3: 93,704,339 (GRCm39) |
V212D |
probably damaging |
Het |
| Tdrd5 |
T |
A |
1: 156,111,944 (GRCm39) |
T479S |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
| Tex55 |
A |
G |
16: 38,648,380 (GRCm39) |
V243A |
probably benign |
Het |
| Traj37 |
T |
C |
14: 54,418,996 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,565,373 (GRCm39) |
L420Q |
probably benign |
Het |
| Wdr24 |
T |
A |
17: 26,047,181 (GRCm39) |
|
probably null |
Het |
| Wdr81 |
T |
A |
11: 75,336,484 (GRCm39) |
Q516L |
probably damaging |
Het |
| Zfp516 |
A |
G |
18: 82,974,164 (GRCm39) |
T121A |
probably benign |
Het |
| Zmat1 |
A |
T |
X: 133,873,694 (GRCm39) |
S566T |
probably damaging |
Homo |
|
| 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 |
|
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'- ATAAGCCAGAGACCCTGTGC -3'
(R):5'- TCACAGGATCAAGTGCAAGG -3'
Sequencing Primer
(F):5'- TGTGCAGGCTTCCCGACAC -3'
(R):5'- TCAAGTGCAAGGGTTTAGATGG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation