Incidental Mutation 'IGL02103:Celf3'
| ID |
279845 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Celf3
|
| Ensembl Gene |
ENSMUSG00000028137 |
| Gene Name |
CUGBP, Elav-like family member 3 |
| Synonyms |
BRUNOL1, Tnrc4, CAGH4, ERDA4, 4930415M08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
IGL02103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94385602-94399505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94394108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 137
(Q137L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029784]
[ENSMUST00000197558]
[ENSMUST00000197677]
[ENSMUST00000200342]
[ENSMUST00000199775]
[ENSMUST00000198384]
[ENSMUST00000198316]
[ENSMUST00000199884]
|
| AlphaFold |
Q8CIN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029784
AA Change: Q212L
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: Q212L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
4.32e-19 |
SMART |
|
RRM
|
95 |
170 |
2.02e-19 |
SMART |
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
373 |
N/A |
INTRINSIC |
|
RRM
|
381 |
454 |
8.83e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197558
AA Change: Q136L
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
AA Change: Q136L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
19 |
94 |
8.9e-22 |
SMART |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
199 |
N/A |
INTRINSIC |
|
RRM
|
286 |
359 |
3.7e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197677
AA Change: Q137L
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143089
Gene: ENSMUSG00000028137
AA Change: Q137L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
95 |
8.7e-22 |
SMART |
|
low complexity region
|
133 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198067
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200342
AA Change: Q213L
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: Q213L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
4.32e-19 |
SMART |
|
RRM
|
96 |
171 |
2.02e-19 |
SMART |
|
low complexity region
|
209 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
402 |
N/A |
INTRINSIC |
|
RRM
|
410 |
483 |
8.83e-25 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199775
AA Change: Q213L
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
AA Change: Q213L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
1.9e-21 |
SMART |
|
RRM
|
96 |
171 |
8.9e-22 |
SMART |
|
low complexity region
|
209 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
324 |
N/A |
INTRINSIC |
|
RRM
|
332 |
405 |
3.7e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198384
AA Change: Q137L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142542
Gene: ENSMUSG00000028137
AA Change: Q137L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
95 |
8.7e-22 |
SMART |
|
low complexity region
|
133 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198316
AA Change: Q136L
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137
AA Change: Q136L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
19 |
94 |
8.7e-22 |
SMART |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
297 |
N/A |
INTRINSIC |
|
RRM
|
305 |
378 |
3.6e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199884
|
| 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. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Male mice homozygous for a null mutation display reduced sperm counts and motility but are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
G |
A |
12: 84,659,138 (GRCm39) |
T206M |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,390 (GRCm39) |
V22D |
possibly damaging |
Het |
| Alb |
G |
A |
5: 90,611,990 (GRCm39) |
E140K |
probably benign |
Het |
| Aph1a |
G |
A |
3: 95,803,125 (GRCm39) |
V193I |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,299,755 (GRCm39) |
R178* |
probably null |
Het |
| Cmya5 |
T |
C |
13: 93,228,635 (GRCm39) |
D2151G |
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,079,625 (GRCm39) |
S353T |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,194,414 (GRCm39) |
L1709R |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,229,199 (GRCm39) |
I1939T |
possibly damaging |
Het |
| Emx2 |
A |
T |
19: 59,450,130 (GRCm39) |
N149I |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,142,558 (GRCm39) |
D472G |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,702,762 (GRCm39) |
Y1700C |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,180,122 (GRCm39) |
R1406S |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 38,943,348 (GRCm39) |
T747K |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,923 (GRCm39) |
M795V |
probably benign |
Het |
| Gm5916 |
A |
G |
9: 36,039,970 (GRCm39) |
L6P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,355 (GRCm39) |
F77L |
possibly damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,395,976 (GRCm39) |
S654P |
possibly damaging |
Het |
| Kdm5c |
T |
A |
X: 151,031,762 (GRCm39) |
F408L |
probably damaging |
Het |
| Kel |
A |
G |
6: 41,679,323 (GRCm39) |
S147P |
probably benign |
Het |
| Klra5 |
A |
T |
6: 129,888,307 (GRCm39) |
|
probably null |
Het |
| Mastl |
A |
G |
2: 23,030,010 (GRCm39) |
S239P |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,977 (GRCm39) |
V174D |
probably damaging |
Het |
| Mgat4a |
A |
T |
1: 37,502,007 (GRCm39) |
M247K |
possibly damaging |
Het |
| Mx2 |
A |
C |
16: 97,345,795 (GRCm39) |
D71A |
probably damaging |
Het |
| Nxt1 |
G |
T |
2: 148,517,564 (GRCm39) |
E102* |
probably null |
Het |
| Or14j1 |
A |
G |
17: 38,146,169 (GRCm39) |
Q93R |
possibly damaging |
Het |
| Or3a1 |
A |
G |
11: 74,225,862 (GRCm39) |
F65S |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,005 (GRCm39) |
N195S |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,613,161 (GRCm39) |
V707E |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,667,768 (GRCm39) |
V640E |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,282 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
A |
T |
1: 149,776,950 (GRCm39) |
D55E |
probably damaging |
Het |
| Plekhg2 |
C |
A |
7: 28,059,501 (GRCm39) |
R1276L |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,290,540 (GRCm39) |
W539* |
probably null |
Het |
| Rae1 |
G |
A |
2: 172,845,306 (GRCm39) |
E33K |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,563 (GRCm39) |
F512I |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,602,952 (GRCm39) |
D823G |
possibly damaging |
Het |
| Samt3 |
A |
T |
X: 85,090,759 (GRCm39) |
Q217L |
probably damaging |
Het |
| Selenbp2 |
A |
G |
3: 94,605,438 (GRCm39) |
N134S |
probably null |
Het |
| Selenoo |
T |
C |
15: 88,984,173 (GRCm39) |
V663A |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,284 (GRCm39) |
T254N |
probably damaging |
Het |
| Spdya |
A |
G |
17: 71,885,242 (GRCm39) |
K232R |
probably benign |
Het |
| Stom |
A |
T |
2: 35,210,401 (GRCm39) |
V201E |
probably benign |
Het |
| Sycp3 |
A |
G |
10: 88,302,334 (GRCm39) |
K108R |
possibly damaging |
Het |
| Usp2 |
A |
G |
9: 44,000,425 (GRCm39) |
|
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,907,926 (GRCm39) |
S53P |
probably damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,349 (GRCm39) |
G47D |
probably damaging |
Het |
| Vwf |
T |
G |
6: 125,623,318 (GRCm39) |
L1805W |
probably damaging |
Het |
| Washc3 |
A |
T |
10: 88,037,687 (GRCm39) |
Q22L |
probably damaging |
Het |
| Wdr81 |
T |
A |
11: 75,335,546 (GRCm39) |
D1761V |
probably damaging |
Het |
|
| Other mutations in Celf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Celf3
|
APN |
3 |
94,395,535 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03007:Celf3
|
APN |
3 |
94,394,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0180:Celf3
|
UTSW |
3 |
94,392,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0670:Celf3
|
UTSW |
3 |
94,395,537 (GRCm39) |
small deletion |
probably benign |
|
|
R1965:Celf3
|
UTSW |
3 |
94,392,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Celf3
|
UTSW |
3 |
94,387,566 (GRCm39) |
splice site |
probably null |
|
|
R2566:Celf3
|
UTSW |
3 |
94,395,537 (GRCm39) |
small deletion |
probably benign |
|
|
R3546:Celf3
|
UTSW |
3 |
94,395,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3547:Celf3
|
UTSW |
3 |
94,395,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3548:Celf3
|
UTSW |
3 |
94,395,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Celf3
|
UTSW |
3 |
94,394,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4471:Celf3
|
UTSW |
3 |
94,395,585 (GRCm39) |
splice site |
probably null |
|
|
R4698:Celf3
|
UTSW |
3 |
94,392,174 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4816:Celf3
|
UTSW |
3 |
94,386,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Celf3
|
UTSW |
3 |
94,395,537 (GRCm39) |
small deletion |
probably benign |
|
|
R5851:Celf3
|
UTSW |
3 |
94,386,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Celf3
|
UTSW |
3 |
94,392,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6400:Celf3
|
UTSW |
3 |
94,387,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Celf3
|
UTSW |
3 |
94,395,024 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7357:Celf3
|
UTSW |
3 |
94,387,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7556:Celf3
|
UTSW |
3 |
94,387,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Celf3
|
UTSW |
3 |
94,395,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Celf3
|
UTSW |
3 |
94,386,489 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8978:Celf3
|
UTSW |
3 |
94,392,667 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9255:Celf3
|
UTSW |
3 |
94,392,594 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9636:Celf3
|
UTSW |
3 |
94,394,580 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2015-04-16 |
Incidental Mutation