Incidental Mutation 'R4471:Celf3'
| ID |
329410 |
| 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 |
041728-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R4471 (G1)
|
| Quality Score |
214 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94385602-94399505 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 94395585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029784]
[ENSMUST00000197558]
[ENSMUST00000197677]
[ENSMUST00000198316]
[ENSMUST00000200342]
[ENSMUST00000199775]
[ENSMUST00000199775]
[ENSMUST00000198384]
[ENSMUST00000199884]
|
| AlphaFold |
Q8CIN6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029784
|
| SMART Domains |
Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
| 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
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000198796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199148
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000200342
|
| SMART Domains |
Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
| 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 null
Transcript: ENSMUST00000199775
|
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199775
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199159
|
| 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 benign
Transcript: ENSMUST00000199884
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (69/70) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
G |
3: 127,473,175 (GRCm39) |
S943P |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,410,791 (GRCm39) |
D398G |
probably damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,367,040 (GRCm39) |
K49M |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,761 (GRCm39) |
|
probably null |
Het |
| Cdc34b |
A |
G |
11: 94,633,064 (GRCm39) |
E88G |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,907,533 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,174,025 (GRCm39) |
N210I |
possibly damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,536,571 (GRCm38) |
L212P |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,228,833 (GRCm39) |
M2085K |
probably benign |
Het |
| Cpne6 |
G |
A |
14: 55,754,089 (GRCm39) |
V469M |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,021,306 (GRCm39) |
V100A |
probably benign |
Het |
| Dnajb4 |
A |
T |
3: 151,890,799 (GRCm39) |
H333Q |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,472,894 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
C |
A |
11: 106,310,868 (GRCm39) |
V302L |
possibly damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,092 (GRCm39) |
H170L |
probably benign |
Het |
| Fn3krp |
T |
G |
11: 121,317,499 (GRCm39) |
D146E |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,390,650 (GRCm39) |
T129A |
probably benign |
Het |
| Glrp1 |
T |
A |
1: 88,431,196 (GRCm39) |
Q58L |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 186,965,337 (GRCm39) |
E281G |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,713,857 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,313,764 (GRCm39) |
N4214S |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,946,802 (GRCm39) |
C443* |
probably null |
Het |
| Impdh1 |
G |
A |
6: 29,204,631 (GRCm39) |
Q307* |
probably null |
Het |
| Ivns1abp |
C |
T |
1: 151,236,990 (GRCm39) |
T447M |
probably benign |
Het |
| Lman1 |
A |
T |
18: 66,124,797 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,668,860 (GRCm39) |
E306G |
probably benign |
Het |
| Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
| Mtif2 |
T |
C |
11: 29,490,053 (GRCm39) |
|
probably benign |
Het |
| Mvp |
C |
T |
7: 126,601,130 (GRCm39) |
M1I |
probably null |
Het |
| Myh7 |
A |
T |
14: 55,229,311 (GRCm39) |
Y162* |
probably null |
Het |
| Nemf |
G |
A |
12: 69,361,216 (GRCm39) |
H956Y |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,577,962 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,766,927 (GRCm39) |
S190P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,423,816 (GRCm39) |
K621E |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,499,780 (GRCm39) |
I24V |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,571,259 (GRCm39) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,846,774 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 75,894,725 (GRCm39) |
Q594* |
probably null |
Het |
| Slk |
T |
G |
19: 47,603,862 (GRCm39) |
V202G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,277 (GRCm39) |
V53D |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,673 (GRCm39) |
V2036E |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,790,491 (GRCm39) |
M523T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
| Tcstv2a |
G |
T |
13: 120,725,579 (GRCm39) |
R81L |
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,461,134 (GRCm39) |
Y108H |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,551,018 (GRCm39) |
F409L |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Ttc23 |
G |
A |
7: 67,319,904 (GRCm39) |
R187Q |
probably benign |
Het |
| Ttl |
T |
C |
2: 128,923,977 (GRCm39) |
V230A |
probably benign |
Het |
| Ube2u |
G |
A |
4: 100,338,843 (GRCm39) |
W36* |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,857,830 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,982,728 (GRCm39) |
I399T |
possibly damaging |
Het |
| Utp25 |
C |
T |
1: 192,812,445 (GRCm39) |
R5Q |
possibly damaging |
Het |
| Wdr59 |
A |
C |
8: 112,193,419 (GRCm39) |
|
probably null |
Het |
| Zfp24 |
A |
G |
18: 24,151,172 (GRCm39) |
|
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,019,041 (GRCm39) |
W342R |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,913 (GRCm39) |
C265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,804,157 (GRCm39) |
L2633Q |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCTAGGCCTGTGGATTC -3'
(R):5'- AGATGTTGCAGCCATCAGGG -3'
Sequencing Primer
(F):5'- TTGTGCCGAGTCAGGGGAAC -3'
(R):5'- CTGGGAAGTGCAGACTGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation