Incidental Mutation 'R0670:Celf3'
ID |
61387 |
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 |
038855-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R0670 (G1)
|
Quality Score |
107 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94385602-94399505 bp(+) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
ACAGCAGCAGCAGCAGCAGCAGCA to ACAGCAGCAGCAGCAGCAGCA
at 94395537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029784]
[ENSMUST00000197558]
[ENSMUST00000197677]
[ENSMUST00000198316]
[ENSMUST00000199775]
[ENSMUST00000200342]
[ENSMUST00000198384]
[ENSMUST00000199884]
|
AlphaFold |
Q8CIN6 |
Predicted Effect |
probably benign
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 |
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 benign
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 benign
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 |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199884
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
Validation Efficiency |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
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 |
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 |
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'- TTGTCTGAGGAAGCCTCATCCCTG -3'
(R):5'- ATTGGTGGCCCGGTCAACAAAG -3'
Sequencing Primer
(F):5'- GGCCTGTGGATTCCACTG -3'
(R):5'- CAAACATCTGGAGGATCTCTGAGTC -3'
|
Posted On |
2013-07-30 |