Incidental Mutation 'IGL01974:Celf2'
| ID |
181679 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Celf2
|
| Ensembl Gene |
ENSMUSG00000002107 |
| Gene Name |
CUGBP, Elav-like family member 2 |
| Synonyms |
Napor-2, ETR-3, B230345P09Rik, Cugbp2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.448)
|
| Stock # |
IGL01974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
6539694-7509563 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6604031 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 313
(Y313C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002176]
[ENSMUST00000100429]
[ENSMUST00000114924]
[ENSMUST00000114927]
[ENSMUST00000114934]
[ENSMUST00000142941]
[ENSMUST00000150624]
[ENSMUST00000170438]
[ENSMUST00000182404]
[ENSMUST00000182706]
[ENSMUST00000183209]
[ENSMUST00000182879]
[ENSMUST00000183091]
[ENSMUST00000183984]
[ENSMUST00000182851]
|
| AlphaFold |
Q9Z0H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002176
AA Change: Y226C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: Y226C
| 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 damaging
Transcript: ENSMUST00000100429
AA Change: Y226C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: Y226C
| 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 damaging
Transcript: ENSMUST00000114924
AA Change: Y268C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: Y268C
| 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 damaging
Transcript: ENSMUST00000114927
AA Change: Y226C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: Y226C
| 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 damaging
Transcript: ENSMUST00000114934
AA Change: Y268C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: Y268C
| 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 |
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 damaging
Transcript: ENSMUST00000142941
AA Change: Y226C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: Y226C
| 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 |
noncoding transcript
Transcript: ENSMUST00000148321
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150624
AA Change: Y226C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: Y226C
| 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 damaging
Transcript: ENSMUST00000170438
AA Change: Y268C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: Y268C
| 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 damaging
Transcript: ENSMUST00000182404
AA Change: Y139C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107
AA Change: Y139C
| 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 damaging
Transcript: ENSMUST00000182706
AA Change: Y262C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: Y262C
| 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 damaging
Transcript: ENSMUST00000183209
AA Change: Y262C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: Y262C
| 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 damaging
Transcript: ENSMUST00000182879
AA Change: Y226C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: Y226C
| 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 damaging
Transcript: ENSMUST00000183091
AA Change: Y250C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: Y250C
| 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 damaging
Transcript: ENSMUST00000183984
AA Change: Y313C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107
AA Change: Y313C
| 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 damaging
Transcript: ENSMUST00000182851
AA Change: Y250C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: Y250C
| 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: ENSMUST00000183269
|
| Coding Region Coverage |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,659,805 |
D1401G |
possibly damaging |
Het |
| Adamts2 |
G |
A |
11: 50,776,174 |
G433S |
probably damaging |
Het |
| Cacna2d2 |
A |
C |
9: 107,517,422 |
S598R |
probably benign |
Het |
| Cdkl3 |
A |
G |
11: 52,011,237 |
Q91R |
probably damaging |
Het |
| Clint1 |
C |
A |
11: 45,909,035 |
N558K |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,304,681 |
H147R |
probably benign |
Het |
| Dusp27 |
A |
T |
1: 166,100,536 |
C502* |
probably null |
Het |
| Ednrb |
A |
C |
14: 103,820,818 |
Y350D |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,626,203 |
P539L |
probably damaging |
Het |
| Fam217b |
G |
A |
2: 178,421,227 |
R328Q |
probably damaging |
Het |
| Gm9991 |
G |
T |
1: 90,675,475 |
|
noncoding transcript |
Het |
| Herc4 |
T |
G |
10: 63,299,241 |
|
probably null |
Het |
| Hus1 |
T |
C |
11: 9,000,088 |
N211S |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,872,858 |
D454G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,273,127 |
|
probably benign |
Het |
| Kank1 |
A |
T |
19: 25,410,232 |
N423I |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,681,340 |
|
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,143,211 |
S3670A |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,521,609 |
V30A |
probably benign |
Het |
| Olfr1048 |
G |
T |
2: 86,235,960 |
L292I |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,423,718 |
R1022Q |
probably benign |
Het |
| Rad23a |
T |
C |
8: 84,838,939 |
E30G |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,449,109 |
Y91F |
probably benign |
Het |
| Sertad4 |
C |
A |
1: 192,846,966 |
E181* |
probably null |
Het |
| Tnfrsf1b |
G |
A |
4: 145,215,851 |
P454L |
probably damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,786,083 |
R110W |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,768,435 |
S500Y |
probably benign |
Het |
|
| Other mutations in Celf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00925:Celf2
|
APN |
2 |
6721577 |
missense |
probably benign |
0.00 |
|
IGL02159:Celf2
|
APN |
2 |
6604177 |
nonsense |
probably null |
|
|
LCD18:Celf2
|
UTSW |
2 |
6779076 |
intron |
probably benign |
|
|
R0113:Celf2
|
UTSW |
2 |
6624714 |
missense |
probably damaging |
1.00 |
|
R0511:Celf2
|
UTSW |
2 |
6604176 |
missense |
probably damaging |
1.00 |
|
R0711:Celf2
|
UTSW |
2 |
6721415 |
critical splice donor site |
probably null |
|
|
R1755:Celf2
|
UTSW |
2 |
6884958 |
start codon destroyed |
probably benign |
0.01 |
|
R1802:Celf2
|
UTSW |
2 |
6549933 |
missense |
probably damaging |
1.00 |
|
R1898:Celf2
|
UTSW |
2 |
6604164 |
missense |
probably damaging |
1.00 |
|
R1912:Celf2
|
UTSW |
2 |
6615753 |
missense |
probably damaging |
1.00 |
|
R2422:Celf2
|
UTSW |
2 |
6553889 |
missense |
probably damaging |
1.00 |
|
R2848:Celf2
|
UTSW |
2 |
6604125 |
missense |
probably damaging |
0.96 |
|
R2849:Celf2
|
UTSW |
2 |
6604125 |
missense |
probably damaging |
0.96 |
|
R3708:Celf2
|
UTSW |
2 |
6624678 |
missense |
probably damaging |
1.00 |
|
R4295:Celf2
|
UTSW |
2 |
6604064 |
missense |
probably benign |
0.10 |
|
R4601:Celf2
|
UTSW |
2 |
6586020 |
missense |
possibly damaging |
0.87 |
|
R4602:Celf2
|
UTSW |
2 |
6586020 |
missense |
possibly damaging |
0.87 |
|
R4610:Celf2
|
UTSW |
2 |
6586020 |
missense |
possibly damaging |
0.87 |
|
R4611:Celf2
|
UTSW |
2 |
6586020 |
missense |
possibly damaging |
0.87 |
|
R4667:Celf2
|
UTSW |
2 |
6721528 |
missense |
probably benign |
0.44 |
|
R4668:Celf2
|
UTSW |
2 |
6721528 |
missense |
probably benign |
0.44 |
|
R4669:Celf2
|
UTSW |
2 |
6721528 |
missense |
probably benign |
0.44 |
|
R4790:Celf2
|
UTSW |
2 |
6549903 |
missense |
probably damaging |
1.00 |
|
R5022:Celf2
|
UTSW |
2 |
6607847 |
intron |
probably benign |
|
|
R5369:Celf2
|
UTSW |
2 |
7081081 |
intron |
probably benign |
|
|
R5540:Celf2
|
UTSW |
2 |
6553932 |
missense |
probably benign |
0.43 |
|
R5805:Celf2
|
UTSW |
2 |
6553787 |
missense |
probably damaging |
1.00 |
|
R5913:Celf2
|
UTSW |
2 |
7081158 |
start codon destroyed |
probably null |
0.02 |
|
R6330:Celf2
|
UTSW |
2 |
6884955 |
missense |
probably benign |
0.05 |
|
R7505:Celf2
|
UTSW |
2 |
6624700 |
missense |
probably damaging |
1.00 |
|
R7662:Celf2
|
UTSW |
2 |
6553917 |
missense |
probably damaging |
1.00 |
|
R8316:Celf2
|
UTSW |
2 |
6547103 |
missense |
probably benign |
0.03 |
|
R8437:Celf2
|
UTSW |
2 |
6547145 |
missense |
probably damaging |
1.00 |
|
R8860:Celf2
|
UTSW |
2 |
6560657 |
critical splice donor site |
probably null |
|
|
R9170:Celf2
|
UTSW |
2 |
6549835 |
missense |
possibly damaging |
0.75 |
|
R9373:Celf2
|
UTSW |
2 |
6547104 |
missense |
probably benign |
0.24 |
|
R9374:Celf2
|
UTSW |
2 |
6586075 |
missense |
possibly damaging |
0.95 |
|
R9382:Celf2
|
UTSW |
2 |
6721593 |
missense |
probably damaging |
1.00 |
|
R9623:Celf2
|
UTSW |
2 |
6615711 |
missense |
probably damaging |
1.00 |
|
R9626:Celf2
|
UTSW |
2 |
6586024 |
missense |
probably benign |
0.33 |
|
R9718:Celf2
|
UTSW |
2 |
6721538 |
missense |
probably damaging |
1.00 |
|
X0018:Celf2
|
UTSW |
2 |
6553913 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation