Incidental Mutation 'IGL03007:Celf3'
| ID | 407582 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Celf3
|
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| Ensembl Gene |
ENSMUSG00000028137 |
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| Gene Name | CUGBP, Elav-like family member 3 |
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| Synonyms | BRUNOL1, CAGH4, 4930415M08Rik, Tnrc4, ERDA4 |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably non essential (E-score: 0.200)
|
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| Stock # | IGL03007
|
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| Quality Score | |
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| Status |
|
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| Chromosome | 3 |
|---|
| Chromosomal Location | 94478295-94492198 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
A to G
at 94487137 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Threonine to Alanine
at position 183
(T183A)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000142542
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029784]
[ENSMUST00000197558]
[ENSMUST00000197677]
[ENSMUST00000198316]
[ENSMUST00000198384]
[ENSMUST00000200342]
[ENSMUST00000199775]
[ENSMUST00000199884]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000029784
AA Change: T258A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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| SMART Domains |
Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: T258A
| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196985
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197033
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000197558
AA Change: T182A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
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| SMART Domains |
Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
AA Change: T182A
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000197677
|
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| SMART Domains |
Protein: ENSMUSP00000143089
Gene: ENSMUSG00000028137
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
95 |
8.7e-22 |
SMART |
|
low complexity region
|
133 |
145 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197699
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198067
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000198316
AA Change: T182A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| SMART Domains |
Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137
AA Change: T182A
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000198384
AA Change: T183A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
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| SMART Domains |
Protein: ENSMUSP00000142542
Gene: ENSMUSG00000028137
AA Change: T183A
| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198796
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199148
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199159
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000200342
AA Change: T259A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| SMART Domains |
Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: T259A
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000199775
|
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| SMART Domains |
Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000199884
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,222,038 |
N144D |
possibly damaging |
Het |
| A830010M20Rik |
T |
A |
5: 107,503,676 |
V145E |
probably benign |
Het |
| A830031A19Rik |
T |
C |
11: 24,049,248 |
|
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,750,521 |
F640S |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,142,734 |
Y16H |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,668,623 |
|
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,182,708 |
V56A |
probably damaging |
Het |
| Erbb2 |
A |
C |
11: 98,428,993 |
|
probably benign |
Het |
| Ighv6-4 |
A |
T |
12: 114,406,593 |
Y80N |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,333,082 |
S782P |
probably damaging |
Het |
| Itsn1 |
A |
T |
16: 91,784,162 |
|
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,354,507 |
Y77N |
possibly damaging |
Het |
| Lig3 |
T |
C |
11: 82,789,575 |
F359S |
probably damaging |
Het |
| Mtmr6 |
G |
T |
14: 60,289,535 |
|
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,752,048 |
S642F |
possibly damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,339,114 |
I54F |
possibly damaging |
Het |
| Nfx1 |
C |
A |
4: 40,984,962 |
T362K |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,782,743 |
S449G |
possibly damaging |
Het |
| Odc1 |
T |
A |
12: 17,548,810 |
H230Q |
probably benign |
Het |
| Olfr26 |
C |
T |
9: 38,855,296 |
T78I |
probably damaging |
Het |
| Olfr348 |
T |
C |
2: 36,786,800 |
S92P |
probably damaging |
Het |
| Olfr63 |
A |
G |
17: 33,268,883 |
E53G |
probably damaging |
Het |
| Olfr963 |
T |
C |
9: 39,669,471 |
V138A |
possibly damaging |
Het |
| Plekhh2 |
A |
C |
17: 84,574,960 |
S665R |
possibly damaging |
Het |
| Qpct |
T |
A |
17: 79,070,865 |
F155I |
probably damaging |
Het |
| Rcor2 |
C |
A |
19: 7,274,353 |
T379K |
probably benign |
Het |
| Rint1 |
A |
G |
5: 23,815,701 |
N574S |
probably benign |
Het |
| Rsbn1 |
C |
T |
3: 103,928,879 |
A411V |
probably damaging |
Het |
| Sbno2 |
A |
T |
10: 80,058,550 |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,621,341 |
S661P |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,064,914 |
M370K |
possibly damaging |
Het |
| Tex101 |
G |
A |
7: 24,670,481 |
|
probably benign |
Het |
| Tmem255b |
C |
T |
8: 13,457,066 |
T265I |
possibly damaging |
Het |
| Trio |
G |
T |
15: 27,902,742 |
A211D |
probably damaging |
Het |
| Zfp638 |
C |
A |
6: 83,984,884 |
Q1902K |
probably damaging |
Het |
|
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| Other mutations in Celf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Celf3
|
APN |
3 |
94488228 |
missense |
possibly damaging |
0.70 |
|
IGL02103:Celf3
|
APN |
3 |
94486801 |
missense |
probably damaging |
1.00 |
|
R0180:Celf3
|
UTSW |
3 |
94485340 |
missense |
probably damaging |
1.00 |
|
R0670:Celf3
|
UTSW |
3 |
94488230 |
small deletion |
probably benign |
|
|
R1965:Celf3
|
UTSW |
3 |
94485327 |
missense |
probably damaging |
1.00 |
|
R2232:Celf3
|
UTSW |
3 |
94480259 |
splice site |
probably null |
|
|
R2566:Celf3
|
UTSW |
3 |
94488230 |
small deletion |
probably benign |
|
|
R3546:Celf3
|
UTSW |
3 |
94488538 |
missense |
probably damaging |
1.00 |
|
R3547:Celf3
|
UTSW |
3 |
94488538 |
missense |
probably damaging |
1.00 |
|
R3548:Celf3
|
UTSW |
3 |
94488538 |
missense |
probably damaging |
1.00 |
|
R4015:Celf3
|
UTSW |
3 |
94487198 |
missense |
probably benign |
0.02 |
|
R4471:Celf3
|
UTSW |
3 |
94488278 |
splice site |
probably null |
|
|
R4698:Celf3
|
UTSW |
3 |
94484867 |
critical splice donor site |
probably null |
|
|
R4816:Celf3
|
UTSW |
3 |
94479222 |
missense |
probably damaging |
1.00 |
|
R4939:Celf3
|
UTSW |
3 |
94488230 |
small deletion |
probably benign |
|
|
R5851:Celf3
|
UTSW |
3 |
94479126 |
missense |
probably damaging |
1.00 |
|
R6277:Celf3
|
UTSW |
3 |
94485365 |
missense |
probably damaging |
1.00 |
|
R6400:Celf3
|
UTSW |
3 |
94480286 |
missense |
probably damaging |
1.00 |
|
R6986:Celf3
|
UTSW |
3 |
94487717 |
missense |
possibly damaging |
0.83 |
|
R7357:Celf3
|
UTSW |
3 |
94480330 |
missense |
probably damaging |
0.99 |
|
R7556:Celf3
|
UTSW |
3 |
94480283 |
missense |
probably damaging |
1.00 |
|
R8141:Celf3
|
UTSW |
3 |
94488543 |
missense |
probably damaging |
1.00 |
|
R8290:Celf3
|
UTSW |
3 |
94479182 |
missense |
probably benign |
0.44 |
|
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| Posted On | 2016-08-02 |
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