Incidental Mutation 'R8141:Celf3'
| ID |
632524 |
| 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 |
067569-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R8141 (G1)
|
| Quality Score |
182.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94385602-94399505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94395850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 410
(N410K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029784]
[ENSMUST00000197558]
[ENSMUST00000197677]
[ENSMUST00000198316]
[ENSMUST00000198384]
[ENSMUST00000199775]
[ENSMUST00000199884]
[ENSMUST00000200342]
|
| AlphaFold |
Q8CIN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029784
AA Change: N381K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: N381K
| 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 |
possibly damaging
Transcript: ENSMUST00000197558
AA Change: N286K
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
AA Change: N286K
| 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 |
probably damaging
Transcript: ENSMUST00000198316
AA Change: N305K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137
AA Change: N305K
| 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 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199775
AA Change: N332K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
AA Change: N332K
| 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 |
probably damaging
Transcript: ENSMUST00000200342
AA Change: N410K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: N410K
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 90.7%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,688 (GRCm39) |
T229A |
probably benign |
Het |
| 4930438A08Rik |
A |
G |
11: 58,177,411 (GRCm39) |
E40G |
|
Het |
| Actn2 |
T |
C |
13: 12,303,516 (GRCm39) |
D428G |
probably damaging |
Het |
| Arl14epl |
C |
A |
18: 47,059,410 (GRCm39) |
N8K |
probably benign |
Het |
| Bend7 |
T |
C |
2: 4,757,636 (GRCm39) |
V226A |
probably benign |
Het |
| C1s1 |
A |
T |
6: 124,508,321 (GRCm39) |
L556Q |
probably damaging |
Het |
| Casr |
T |
C |
16: 36,315,173 (GRCm39) |
K966E |
probably damaging |
Het |
| Ccm2l |
T |
C |
2: 152,912,791 (GRCm39) |
L110P |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,873,991 (GRCm39) |
R59H |
|
Het |
| Cfap251 |
T |
G |
5: 123,424,493 (GRCm39) |
V726G |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Fam53b |
A |
C |
7: 132,361,758 (GRCm39) |
V90G |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,908,362 (GRCm39) |
I2547F |
possibly damaging |
Het |
| Foxk1 |
A |
G |
5: 142,439,716 (GRCm39) |
Y524C |
probably damaging |
Het |
| Gpr87 |
A |
G |
3: 59,087,020 (GRCm39) |
S162P |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,583,189 (GRCm39) |
V343A |
possibly damaging |
Het |
| Igsf10 |
A |
G |
3: 59,237,949 (GRCm39) |
L744P |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,491,608 (GRCm39) |
K359N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,961,599 (GRCm39) |
K1459* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,993,735 (GRCm39) |
W507* |
probably null |
Het |
| Klra17 |
T |
C |
6: 129,849,292 (GRCm39) |
D94G |
probably damaging |
Het |
| Llgl1 |
G |
C |
11: 60,601,142 (GRCm39) |
E693D |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,855 (GRCm39) |
T38A |
unknown |
Het |
| Lypd4 |
A |
T |
7: 24,564,254 (GRCm39) |
D201E |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,076,795 (GRCm39) |
S1794P |
|
Het |
| Oog2 |
T |
C |
4: 143,920,777 (GRCm39) |
L70P |
probably damaging |
Het |
| Or6n2 |
T |
C |
1: 173,897,488 (GRCm39) |
L208P |
probably damaging |
Het |
| Pacsin1 |
G |
T |
17: 27,926,034 (GRCm39) |
R282S |
possibly damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,535,361 (GRCm39) |
Y452N |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,338,387 (GRCm39) |
V547A |
possibly damaging |
Het |
| Plcb4 |
T |
C |
2: 135,781,169 (GRCm39) |
F209L |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,571,384 (GRCm39) |
S158P |
probably benign |
Het |
| Prlhr |
C |
G |
19: 60,455,747 (GRCm39) |
R273P |
probably damaging |
Het |
| Prss41 |
G |
A |
17: 24,056,607 (GRCm39) |
P196L |
probably damaging |
Het |
| Ptgr3 |
T |
C |
18: 84,112,651 (GRCm39) |
L109P |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,793,643 (GRCm39) |
E598G |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 156,992,240 (GRCm39) |
D569G |
possibly damaging |
Het |
| Sf3b3 |
A |
C |
8: 111,547,483 (GRCm39) |
M715R |
possibly damaging |
Het |
| Ska1 |
T |
C |
18: 74,339,907 (GRCm39) |
N13S |
probably benign |
Het |
| Spocd1 |
A |
C |
4: 129,823,497 (GRCm39) |
E98A |
|
Het |
| Sycp1 |
G |
T |
3: 102,842,885 (GRCm39) |
A28E |
possibly damaging |
Het |
| Syf2 |
C |
T |
4: 134,664,182 (GRCm39) |
R199C |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,108,442 (GRCm39) |
D942G |
possibly damaging |
Het |
| Tamalin |
T |
A |
15: 101,129,790 (GRCm39) |
C358S |
possibly damaging |
Het |
| Tmem63a |
A |
G |
1: 180,801,776 (GRCm39) |
T764A |
probably benign |
Het |
| Ttf1 |
C |
T |
2: 28,957,238 (GRCm39) |
Q503* |
probably null |
Het |
| Usp13 |
T |
C |
3: 32,949,025 (GRCm39) |
V454A |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,652,472 (GRCm39) |
T50A |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,331 (GRCm39) |
C1382S |
possibly 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 |
|
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 |
|
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 |
|
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'- ATAAGAACGCCCATGTGTGG -3'
(R):5'- TGTGACGAACTCAGTCCTAAGAG -3'
Sequencing Primer
(F):5'- GATGGCTCTTTCCCAGGC -3'
(R):5'- TCCTAAGAGTTCAAACAAAAATGTCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation