Incidental Mutation 'R4698:Celf3'
ID |
355819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Celf3
|
Ensembl Gene |
ENSMUSG00000028137 |
Gene Name |
CUGBP, Elav-like family member 3 |
Synonyms |
BRUNOL1, Tnrc4, CAGH4, ERDA4, 4930415M08Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R4698 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94385602-94399505 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 94392174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029784]
[ENSMUST00000197558]
[ENSMUST00000197677]
[ENSMUST00000197677]
[ENSMUST00000198384]
[ENSMUST00000198384]
[ENSMUST00000198316]
[ENSMUST00000199775]
[ENSMUST00000199775]
[ENSMUST00000199884]
[ENSMUST00000199884]
[ENSMUST00000200342]
|
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: ENSMUST00000183915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197033
|
Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 null
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 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: 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 |
probably null
Transcript: ENSMUST00000199884
|
Predicted Effect |
probably null
Transcript: ENSMUST00000199884
|
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 |
noncoding transcript
Transcript: ENSMUST00000199148
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198067
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199159
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198796
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
A |
G |
17: 48,349,049 (GRCm39) |
V11A |
possibly damaging |
Het |
6030452D12Rik |
T |
C |
8: 107,230,979 (GRCm39) |
I55T |
unknown |
Het |
Aadacl2 |
A |
G |
3: 59,932,460 (GRCm39) |
D325G |
probably benign |
Het |
Adh1 |
A |
G |
3: 137,988,274 (GRCm39) |
S113G |
probably benign |
Het |
Agxt2 |
T |
C |
15: 10,392,130 (GRCm39) |
|
probably null |
Het |
Aicda |
C |
T |
6: 122,530,847 (GRCm39) |
|
probably benign |
Het |
Aifm2 |
T |
C |
10: 61,563,535 (GRCm39) |
M135T |
probably benign |
Het |
Asah2 |
T |
C |
19: 32,031,871 (GRCm39) |
|
probably null |
Het |
Btbd17 |
T |
C |
11: 114,682,543 (GRCm39) |
R390G |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,705,654 (GRCm38) |
E247G |
possibly damaging |
Het |
Cds2 |
T |
C |
2: 132,146,873 (GRCm39) |
I383T |
probably damaging |
Het |
Crhr2 |
T |
C |
6: 55,079,852 (GRCm39) |
S162G |
possibly damaging |
Het |
Dapl1 |
A |
T |
2: 59,335,118 (GRCm39) |
K91* |
probably null |
Het |
Ddx60 |
A |
C |
8: 62,465,458 (GRCm39) |
M1372L |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,389,358 (GRCm39) |
F845I |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
Ech1 |
T |
C |
7: 28,531,478 (GRCm39) |
V310A |
probably benign |
Het |
Eef1g |
A |
G |
19: 8,955,330 (GRCm39) |
D393G |
possibly damaging |
Het |
Eif3k |
T |
C |
7: 28,671,969 (GRCm39) |
I172V |
possibly damaging |
Het |
Foxd4 |
A |
G |
19: 24,877,625 (GRCm39) |
F192L |
probably damaging |
Het |
Gpr153 |
T |
A |
4: 152,366,240 (GRCm39) |
S268R |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,394 (GRCm39) |
R129S |
probably damaging |
Het |
Ivl |
T |
C |
3: 92,478,698 (GRCm39) |
K456E |
unknown |
Het |
Kif20b |
A |
T |
19: 34,928,944 (GRCm39) |
D1190V |
probably damaging |
Het |
Kif21a |
T |
A |
15: 90,840,508 (GRCm39) |
I1223L |
possibly damaging |
Het |
Lmf1 |
T |
C |
17: 25,798,324 (GRCm39) |
V55A |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,459,987 (GRCm39) |
E659G |
possibly damaging |
Het |
Lrrc37a |
T |
C |
11: 103,394,930 (GRCm39) |
E165G |
possibly damaging |
Het |
Mios |
T |
C |
6: 8,228,113 (GRCm39) |
Y677H |
possibly damaging |
Het |
Mnx1 |
T |
A |
5: 29,679,057 (GRCm39) |
K342M |
unknown |
Het |
Mtpap |
A |
T |
18: 4,375,724 (GRCm39) |
T35S |
possibly damaging |
Het |
Ndc1 |
C |
G |
4: 107,268,334 (GRCm39) |
D623E |
probably benign |
Het |
Nedd4l |
A |
G |
18: 65,336,951 (GRCm39) |
Y666C |
probably damaging |
Het |
Or52s6 |
T |
A |
7: 103,091,842 (GRCm39) |
I163F |
possibly damaging |
Het |
Or5ac22 |
T |
C |
16: 59,135,720 (GRCm39) |
T17A |
probably damaging |
Het |
Or5b12b |
T |
G |
19: 12,861,985 (GRCm39) |
F247V |
probably benign |
Het |
Or5m10b |
A |
G |
2: 85,699,596 (GRCm39) |
Y220C |
possibly damaging |
Het |
Papss1 |
G |
T |
3: 131,313,092 (GRCm39) |
V369F |
probably damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,822 (GRCm39) |
Y601N |
probably damaging |
Het |
Pde7a |
C |
T |
3: 19,365,095 (GRCm39) |
R24Q |
probably damaging |
Het |
Phf21a |
A |
G |
2: 92,187,297 (GRCm39) |
D445G |
probably damaging |
Het |
Plekho1 |
T |
A |
3: 95,902,964 (GRCm39) |
N15I |
possibly damaging |
Het |
Pprc1 |
T |
C |
19: 46,057,634 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,724,061 (GRCm39) |
|
probably null |
Het |
Rrp12 |
T |
C |
19: 41,861,481 (GRCm39) |
E942G |
probably benign |
Het |
Skor1 |
T |
C |
9: 63,051,830 (GRCm39) |
D685G |
probably benign |
Het |
Smim23 |
A |
T |
11: 32,774,510 (GRCm39) |
I3N |
possibly damaging |
Het |
Spata7 |
A |
T |
12: 98,630,536 (GRCm39) |
I333F |
probably damaging |
Het |
Sppl2c |
T |
C |
11: 104,079,141 (GRCm39) |
I647T |
probably benign |
Het |
Srgap1 |
C |
A |
10: 121,628,392 (GRCm39) |
R837L |
probably benign |
Het |
Stpg2 |
C |
A |
3: 139,014,990 (GRCm39) |
P385H |
probably damaging |
Het |
Tmem238 |
C |
A |
7: 4,792,016 (GRCm39) |
E19* |
probably null |
Het |
Top2b |
A |
T |
14: 16,387,331 (GRCm38) |
K140* |
probably null |
Het |
Trp53 |
T |
A |
11: 69,479,248 (GRCm39) |
L142* |
probably null |
Het |
Tyro3 |
A |
T |
2: 119,633,751 (GRCm39) |
D133V |
probably damaging |
Het |
Virma |
T |
A |
4: 11,528,636 (GRCm39) |
I1291N |
probably damaging |
Het |
Vmn1r213 |
A |
G |
13: 23,195,507 (GRCm39) |
|
probably benign |
Het |
Zbtb10 |
T |
C |
3: 9,329,610 (GRCm39) |
S323P |
possibly damaging |
Het |
Zfp521 |
A |
T |
18: 13,978,660 (GRCm39) |
N584K |
probably damaging |
Het |
Zfp944 |
A |
G |
17: 22,558,180 (GRCm39) |
C356R |
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 |
R4471:Celf3
|
UTSW |
3 |
94,395,585 (GRCm39) |
splice 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'- ATTCTAGACAAGGTTGGGCC -3'
(R):5'- GCTCTGAAGGACGTGAACTC -3'
Sequencing Primer
(F):5'- CTACCCTTTCCTTTCCATCAACTGAG -3'
(R):5'- CTCTGAAGGACGTGAACTCTACTTG -3'
|
Posted On |
2015-10-21 |