Incidental Mutation 'R6400:Celf3'
| ID |
516123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celf3
|
| Ensembl Gene |
ENSMUSG00000028137 |
| Gene Name |
CUGBP, Elav-like family member 3 |
| Synonyms |
BRUNOL1, Tnrc4, CAGH4, ERDA4, 4930415M08Rik |
| MMRRC Submission |
044547-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R6400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94385602-94399505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94387593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 55
(Y55C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029784]
[ENSMUST00000197558]
[ENSMUST00000197677]
[ENSMUST00000198316]
[ENSMUST00000200342]
[ENSMUST00000199775]
[ENSMUST00000199884]
[ENSMUST00000198384]
|
| AlphaFold |
Q8CIN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029784
AA Change: Y55C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: Y55C
| 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: ENSMUST00000183915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197558
|
| SMART Domains |
Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
| 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
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198316
|
| SMART Domains |
Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137
| 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 |
probably damaging
Transcript: ENSMUST00000200342
AA Change: Y55C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: Y55C
| 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 |
probably damaging
Transcript: ENSMUST00000199775
AA Change: Y55C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
AA Change: Y55C
| 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 benign
Transcript: ENSMUST00000199884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198384
|
| SMART Domains |
Protein: ENSMUSP00000142542
Gene: ENSMUSG00000028137
| 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 |
|
| Meta Mutation Damage Score |
0.9548 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.2%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,638,435 (GRCm39) |
*160Q |
probably null |
Het |
| Aen |
G |
A |
7: 78,557,142 (GRCm39) |
G330E |
probably benign |
Het |
| Akap8l |
G |
A |
17: 32,555,294 (GRCm39) |
R262C |
probably damaging |
Het |
| Cbx8 |
G |
A |
11: 118,929,694 (GRCm39) |
Q300* |
probably null |
Het |
| Cd274 |
C |
T |
19: 29,362,808 (GRCm39) |
T290M |
probably damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,721 (GRCm39) |
S127A |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,412,316 (GRCm39) |
|
probably null |
Het |
| Cog2 |
A |
T |
8: 125,277,045 (GRCm39) |
I684F |
probably damaging |
Het |
| Cyp2c65 |
C |
T |
19: 39,049,558 (GRCm39) |
L29F |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Dytn |
A |
T |
1: 63,680,335 (GRCm39) |
L408* |
probably null |
Het |
| Flg |
A |
G |
3: 93,187,228 (GRCm39) |
T227A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,001,784 (GRCm39) |
K887M |
probably null |
Het |
| Hoxb1 |
C |
T |
11: 96,256,818 (GRCm39) |
Q56* |
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,569,688 (GRCm39) |
N736I |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,478 (GRCm39) |
V120A |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,458,397 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,259 (GRCm39) |
S999T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,155,332 (GRCm39) |
F1171L |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,402 (GRCm39) |
S1783P |
unknown |
Het |
| Nbr1 |
T |
C |
11: 101,456,600 (GRCm39) |
L159P |
probably damaging |
Het |
| Nme9 |
T |
C |
9: 99,351,760 (GRCm39) |
F248S |
possibly damaging |
Het |
| Or4x11 |
C |
T |
2: 89,867,739 (GRCm39) |
L159F |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,830 (GRCm39) |
S164P |
probably damaging |
Het |
| Rasgrf1 |
C |
T |
9: 89,873,683 (GRCm39) |
T664I |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,020,286 (GRCm39) |
D91G |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,080,157 (GRCm39) |
R514G |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,049,169 (GRCm39) |
G3446V |
probably damaging |
Het |
| Tcte2 |
T |
A |
17: 13,942,714 (GRCm39) |
|
probably benign |
Het |
| Trmt10b |
A |
G |
4: 45,308,562 (GRCm39) |
K239E |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,072,322 (GRCm39) |
S189T |
probably benign |
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 |
|
IGL02103:Celf3
|
APN |
3 |
94,394,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATAAATGCCTCCTCCCTC -3'
(R):5'- CCTGTTTCACACCTCTACGGAG -3'
Sequencing Primer
(F):5'- TCCCCAGCCAAGCAGGTAG -3'
(R):5'- GTGCTGAGCATAGAACTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation