Incidental Mutation 'R6277:Celf3'
| ID |
507696 |
| 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 |
044447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R6277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94385602-94399505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94392672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 124
(C124R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029784]
[ENSMUST00000197558]
[ENSMUST00000197677]
[ENSMUST00000200342]
[ENSMUST00000198316]
[ENSMUST00000198384]
[ENSMUST00000199775]
[ENSMUST00000199884]
|
| AlphaFold |
Q8CIN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029784
AA Change: C123R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: C123R
| 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 damaging
Transcript: ENSMUST00000197558
AA Change: C47R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
AA Change: C47R
| 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 damaging
Transcript: ENSMUST00000197677
AA Change: C48R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143089
Gene: ENSMUSG00000028137
AA Change: C48R
| 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 damaging
Transcript: ENSMUST00000200342
AA Change: C124R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: C124R
| 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: ENSMUST00000198316
AA Change: C47R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137
AA Change: C47R
| 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: ENSMUST00000198384
AA Change: C48R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142542
Gene: ENSMUSG00000028137
AA Change: C48R
| 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 damaging
Transcript: ENSMUST00000199775
AA Change: C124R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
AA Change: C124R
| 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 |
noncoding transcript
Transcript: ENSMUST00000198796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199884
|
| Meta Mutation Damage Score |
0.9660 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (70/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,385,651 (GRCm39) |
Y105H |
possibly damaging |
Het |
| 4921539E11Rik |
A |
T |
4: 103,088,668 (GRCm39) |
Y179* |
probably null |
Het |
| Abca7 |
G |
C |
10: 79,841,992 (GRCm39) |
V1042L |
probably benign |
Het |
| Adck5 |
C |
A |
15: 76,477,463 (GRCm39) |
T99K |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,109,896 (GRCm39) |
T823A |
probably benign |
Het |
| Adra1d |
G |
T |
2: 131,403,083 (GRCm39) |
R336S |
probably damaging |
Het |
| Arhgap39 |
A |
T |
15: 76,619,337 (GRCm39) |
M749K |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,086,665 (GRCm39) |
R168G |
possibly damaging |
Het |
| Atxn10 |
A |
G |
15: 85,275,893 (GRCm39) |
T317A |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,863,731 (GRCm39) |
K22E |
possibly damaging |
Het |
| Cacna1b |
T |
G |
2: 24,620,808 (GRCm39) |
T281P |
probably damaging |
Het |
| Ccdc174 |
A |
T |
6: 91,857,272 (GRCm39) |
Q26L |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,257,669 (GRCm39) |
E1068G |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,873,255 (GRCm39) |
E1284D |
probably benign |
Het |
| Dcbld2 |
T |
A |
16: 58,272,119 (GRCm39) |
Y392N |
probably damaging |
Het |
| Dcbld2 |
C |
T |
16: 58,285,866 (GRCm39) |
P675L |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,492,439 (GRCm39) |
H1193L |
probably damaging |
Het |
| Efcab3 |
G |
C |
11: 104,901,148 (GRCm39) |
E4422D |
possibly damaging |
Het |
| Ern2 |
A |
G |
7: 121,785,330 (GRCm39) |
F16L |
probably benign |
Het |
| Fam163b |
G |
T |
2: 27,002,763 (GRCm39) |
T78N |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,974,623 (GRCm39) |
I299K |
possibly damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,299 (GRCm39) |
N344S |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,871,308 (GRCm39) |
I202T |
probably damaging |
Het |
| Gm11595 |
G |
T |
11: 99,663,510 (GRCm39) |
P57T |
unknown |
Het |
| Gm12258 |
G |
A |
11: 58,745,113 (GRCm39) |
V15M |
probably damaging |
Het |
| Gm15056 |
C |
T |
8: 21,390,914 (GRCm39) |
G40S |
probably damaging |
Het |
| Gnal |
C |
A |
18: 67,346,143 (GRCm39) |
H274Q |
probably damaging |
Het |
| Hormad2 |
A |
T |
11: 4,371,583 (GRCm39) |
|
probably null |
Het |
| Ighv7-2 |
A |
G |
12: 113,876,087 (GRCm39) |
I6T |
probably benign |
Het |
| Irf9 |
A |
G |
14: 55,845,109 (GRCm39) |
D323G |
probably benign |
Het |
| Klhl23 |
G |
T |
2: 69,664,096 (GRCm39) |
D482Y |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,982,006 (GRCm39) |
N1745S |
probably damaging |
Het |
| Lct |
T |
A |
1: 128,231,974 (GRCm39) |
Y625F |
probably benign |
Het |
| Lrrc26 |
T |
C |
2: 25,180,116 (GRCm39) |
V39A |
probably benign |
Het |
| Mllt6 |
G |
A |
11: 97,564,774 (GRCm39) |
A527T |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,120,880 (GRCm39) |
D698G |
probably damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,520 (GRCm39) |
S269T |
probably benign |
Het |
| Pacsin1 |
T |
A |
17: 27,924,969 (GRCm39) |
|
probably null |
Het |
| Padi3 |
A |
T |
4: 140,518,472 (GRCm39) |
|
probably null |
Het |
| Pcdha8 |
T |
C |
18: 37,127,411 (GRCm39) |
I631T |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,972,957 (GRCm39) |
G315D |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,907,422 (GRCm39) |
D228E |
probably benign |
Het |
| Prag1 |
G |
T |
8: 36,613,745 (GRCm39) |
R1099L |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,090,223 (GRCm39) |
E421G |
probably damaging |
Het |
| Prr36 |
A |
G |
8: 4,264,746 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,541,883 (GRCm39) |
S369P |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
| Slc9c1 |
G |
A |
16: 45,427,204 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,588,948 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Smcr8 |
C |
T |
11: 60,669,635 (GRCm39) |
T261M |
probably benign |
Het |
| Spata17 |
G |
A |
1: 186,926,151 (GRCm39) |
R60* |
probably null |
Het |
| Speer4f1 |
A |
G |
5: 17,681,241 (GRCm39) |
R40G |
probably damaging |
Het |
| Spns3 |
A |
G |
11: 72,420,466 (GRCm39) |
V340A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,716,344 (GRCm39) |
I595V |
probably benign |
Het |
| Srms |
G |
A |
2: 180,848,038 (GRCm39) |
A489V |
possibly damaging |
Het |
| St3gal4 |
T |
C |
9: 34,964,558 (GRCm39) |
N169S |
probably damaging |
Het |
| Taar5 |
T |
A |
10: 23,847,169 (GRCm39) |
V189E |
probably damaging |
Het |
| Tbc1d32 |
G |
A |
10: 56,071,525 (GRCm39) |
P333L |
probably benign |
Het |
| Tet3 |
G |
T |
6: 83,345,066 (GRCm39) |
Y1790* |
probably null |
Het |
| Ticrr |
T |
A |
7: 79,344,444 (GRCm39) |
H1436Q |
probably benign |
Het |
| Top6bl |
G |
T |
19: 4,677,250 (GRCm39) |
S466* |
probably null |
Het |
| Ubl7 |
C |
T |
9: 57,830,555 (GRCm39) |
L334F |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,119,283 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,606,451 (GRCm39) |
D1303G |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,509,954 (GRCm39) |
L842P |
possibly damaging |
Het |
| Vps35 |
G |
T |
8: 85,987,857 (GRCm39) |
Q765K |
possibly damaging |
Het |
| Zfp87 |
G |
T |
13: 74,520,643 (GRCm39) |
S145* |
probably null |
Het |
| Zgrf1 |
C |
T |
3: 127,392,461 (GRCm39) |
A1327V |
possibly damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,718,983 (GRCm39) |
S334R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCACAGTTTCCCAGGATG -3'
(R):5'- ATGGAAGTGTGCTCTGTGCC -3'
Sequencing Primer
(F):5'- TGTCAGGAGCAACAGGGATGC -3'
(R):5'- TCCGGCTGCTGTGAAGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation