Incidental Mutation 'R7063:Celf1'
ID |
548379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Celf1
|
Ensembl Gene |
ENSMUSG00000005506 |
Gene Name |
CUGBP, Elav-like family member 1 |
Synonyms |
CUG-BP1, CUG-BP, D2Wsu101e, Brunol2, Cugbp1, 1600010O03Rik |
MMRRC Submission |
045159-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.839)
|
Stock # |
R7063 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 90843189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005643]
[ENSMUST00000068726]
[ENSMUST00000068747]
[ENSMUST00000111448]
[ENSMUST00000111449]
[ENSMUST00000111451]
[ENSMUST00000111452]
[ENSMUST00000177642]
[ENSMUST00000111455]
|
AlphaFold |
P28659 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005643
|
SMART Domains |
Protein: ENSMUSP00000005643 Gene: ENSMUSG00000005506
Domain | Start | End | E-Value | Type |
RRM
|
44 |
122 |
5.93e-17 |
SMART |
RRM
|
136 |
211 |
2.52e-20 |
SMART |
low complexity region
|
226 |
234 |
N/A |
INTRINSIC |
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
low complexity region
|
283 |
303 |
N/A |
INTRINSIC |
low complexity region
|
311 |
338 |
N/A |
INTRINSIC |
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
RRM
|
429 |
502 |
1.71e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068726
|
SMART Domains |
Protein: ENSMUSP00000064323 Gene: ENSMUSG00000005506
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
5.93e-17 |
SMART |
RRM
|
109 |
184 |
2.52e-20 |
SMART |
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
low complexity region
|
283 |
315 |
N/A |
INTRINSIC |
low complexity region
|
316 |
329 |
N/A |
INTRINSIC |
low complexity region
|
332 |
357 |
N/A |
INTRINSIC |
RRM
|
403 |
476 |
1.71e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068747
|
SMART Domains |
Protein: ENSMUSP00000070438 Gene: ENSMUSG00000005506
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
5.93e-17 |
SMART |
RRM
|
109 |
184 |
2.52e-20 |
SMART |
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
low complexity region
|
284 |
311 |
N/A |
INTRINSIC |
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
RRM
|
402 |
475 |
1.71e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111448
|
SMART Domains |
Protein: ENSMUSP00000107075 Gene: ENSMUSG00000005506
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
5.93e-17 |
SMART |
RRM
|
109 |
184 |
2.52e-20 |
SMART |
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
low complexity region
|
252 |
272 |
N/A |
INTRINSIC |
low complexity region
|
279 |
311 |
N/A |
INTRINSIC |
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
low complexity region
|
328 |
353 |
N/A |
INTRINSIC |
RRM
|
399 |
472 |
1.71e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111449
|
SMART Domains |
Protein: ENSMUSP00000107076 Gene: ENSMUSG00000005506
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
5.93e-17 |
SMART |
RRM
|
109 |
184 |
2.52e-20 |
SMART |
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
low complexity region
|
284 |
311 |
N/A |
INTRINSIC |
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
RRM
|
402 |
475 |
1.71e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111451
|
SMART Domains |
Protein: ENSMUSP00000107078 Gene: ENSMUSG00000005506
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
5.93e-17 |
SMART |
RRM
|
109 |
184 |
2.52e-20 |
SMART |
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
low complexity region
|
284 |
311 |
N/A |
INTRINSIC |
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
RRM
|
402 |
475 |
1.71e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111452
|
SMART Domains |
Protein: ENSMUSP00000107079 Gene: ENSMUSG00000005506
Domain | Start | End | E-Value | Type |
RRM
|
44 |
122 |
5.93e-17 |
SMART |
RRM
|
136 |
211 |
2.52e-20 |
SMART |
low complexity region
|
226 |
234 |
N/A |
INTRINSIC |
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
low complexity region
|
283 |
303 |
N/A |
INTRINSIC |
low complexity region
|
311 |
338 |
N/A |
INTRINSIC |
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
RRM
|
429 |
502 |
1.71e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177642
|
SMART Domains |
Protein: ENSMUSP00000136109 Gene: ENSMUSG00000005506
Domain | Start | End | E-Value | Type |
RRM
|
17 |
95 |
5.93e-17 |
SMART |
RRM
|
109 |
184 |
2.52e-20 |
SMART |
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
low complexity region
|
284 |
311 |
N/A |
INTRINSIC |
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
RRM
|
402 |
475 |
1.71e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111455
|
SMART Domains |
Protein: ENSMUSP00000107082 Gene: ENSMUSG00000005506
Domain | Start | End | E-Value | Type |
RRM
|
44 |
122 |
5.93e-17 |
SMART |
RRM
|
136 |
211 |
2.52e-20 |
SMART |
low complexity region
|
226 |
234 |
N/A |
INTRINSIC |
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
low complexity region
|
283 |
303 |
N/A |
INTRINSIC |
low complexity region
|
311 |
338 |
N/A |
INTRINSIC |
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
RRM
|
429 |
502 |
1.71e-22 |
SMART |
|
Meta Mutation Damage Score |
0.9588 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
PHENOTYPE: Homozygous disruption of this gene results in significant postnatal lethality, growth retardation, and impaired fertility in both sexes. Male infertility is caused by a blockage of spermiogenesis at stage 7 and increased germ cell apoptosis but is not fully penetrant. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
Btbd6 |
A |
G |
12: 112,941,132 (GRCm39) |
Y148C |
probably damaging |
Het |
Casr |
T |
C |
16: 36,314,936 (GRCm39) |
I968V |
probably benign |
Het |
Chst2 |
G |
T |
9: 95,287,621 (GRCm39) |
R242S |
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,460,967 (GRCm39) |
D228V |
probably damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,430,532 (GRCm39) |
Y288C |
probably benign |
Het |
Cyp2r1 |
A |
G |
7: 114,152,184 (GRCm39) |
S49P |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,233,394 (GRCm39) |
E251G |
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,394,332 (GRCm39) |
R199G |
possibly damaging |
Het |
Fat1 |
C |
T |
8: 45,493,812 (GRCm39) |
T3986I |
probably benign |
Het |
Gbp4 |
G |
A |
5: 105,266,314 (GRCm39) |
R576C |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
Gm6408 |
T |
C |
5: 146,420,594 (GRCm39) |
I158T |
probably benign |
Het |
Gpr89 |
C |
G |
3: 96,783,014 (GRCm39) |
R312P |
probably damaging |
Het |
Idh2 |
A |
G |
7: 79,745,432 (GRCm39) |
V403A |
probably damaging |
Het |
Lclat1 |
A |
G |
17: 73,546,986 (GRCm39) |
E301G |
possibly damaging |
Het |
Lgmn |
A |
G |
12: 102,368,937 (GRCm39) |
Y181H |
probably damaging |
Het |
Lgr5 |
T |
C |
10: 115,292,639 (GRCm39) |
Y417C |
probably damaging |
Het |
Man1a |
G |
T |
10: 53,906,840 (GRCm39) |
N311K |
probably damaging |
Het |
Nat10 |
G |
A |
2: 103,578,422 (GRCm39) |
L228F |
probably benign |
Het |
Or10d3 |
T |
G |
9: 39,461,411 (GRCm39) |
Y252S |
possibly damaging |
Het |
Or10v5 |
A |
G |
19: 11,805,548 (GRCm39) |
F281L |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,449 (GRCm39) |
D68G |
probably damaging |
Het |
Or5p55 |
C |
A |
7: 107,567,411 (GRCm39) |
A269E |
probably benign |
Het |
Pcmtd2 |
T |
A |
2: 181,496,776 (GRCm39) |
Y130* |
probably null |
Het |
Potefam3f |
G |
A |
8: 20,479,013 (GRCm39) |
C7Y |
|
Het |
Qrfprl |
A |
G |
6: 65,418,387 (GRCm39) |
|
probably benign |
Het |
Rapgef5 |
A |
G |
12: 117,652,864 (GRCm39) |
D62G |
possibly damaging |
Het |
Serpina3m |
A |
T |
12: 104,357,726 (GRCm39) |
I217L |
probably benign |
Het |
Supt16 |
T |
C |
14: 52,409,505 (GRCm39) |
R802G |
possibly damaging |
Het |
Sypl2 |
A |
T |
3: 108,124,971 (GRCm39) |
M130K |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,184,386 (GRCm39) |
L503Q |
probably damaging |
Het |
Ubald2 |
A |
G |
11: 116,325,443 (GRCm39) |
Q60R |
probably benign |
Het |
Vav1 |
C |
T |
17: 57,618,860 (GRCm39) |
Q673* |
probably null |
Het |
Vgll2 |
T |
C |
10: 51,904,072 (GRCm39) |
S312P |
probably benign |
Het |
Vmn1r191 |
C |
T |
13: 22,362,864 (GRCm39) |
A297T |
probably benign |
Het |
Vmn1r7 |
T |
A |
6: 57,001,418 (GRCm39) |
I281F |
possibly damaging |
Het |
Vmn2r108 |
T |
C |
17: 20,701,410 (GRCm39) |
Y30C |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,511,650 (GRCm39) |
N619S |
probably damaging |
Het |
Vstm5 |
A |
G |
9: 15,150,549 (GRCm39) |
|
probably benign |
Het |
Zfp7 |
A |
G |
15: 76,775,919 (GRCm39) |
I654V |
possibly damaging |
Het |
Zmat2 |
A |
G |
18: 36,929,627 (GRCm39) |
N129S |
probably null |
Het |
|
Other mutations in Celf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01714:Celf1
|
APN |
2 |
90,839,552 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02126:Celf1
|
APN |
2 |
90,831,408 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02183:Celf1
|
APN |
2 |
90,831,831 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02350:Celf1
|
APN |
2 |
90,828,933 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02357:Celf1
|
APN |
2 |
90,828,933 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02402:Celf1
|
APN |
2 |
90,829,068 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02522:Celf1
|
APN |
2 |
90,839,646 (GRCm39) |
missense |
possibly damaging |
0.46 |
Colostrum
|
UTSW |
2 |
90,831,423 (GRCm39) |
missense |
probably damaging |
0.97 |
Creamy
|
UTSW |
2 |
90,843,189 (GRCm39) |
critical splice donor site |
probably null |
|
R0033:Celf1
|
UTSW |
2 |
90,831,798 (GRCm39) |
splice site |
probably benign |
|
R0033:Celf1
|
UTSW |
2 |
90,831,798 (GRCm39) |
splice site |
probably benign |
|
R0147:Celf1
|
UTSW |
2 |
90,835,035 (GRCm39) |
splice site |
probably benign |
|
R2008:Celf1
|
UTSW |
2 |
90,840,753 (GRCm39) |
missense |
probably damaging |
0.97 |
R2132:Celf1
|
UTSW |
2 |
90,840,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R3769:Celf1
|
UTSW |
2 |
90,828,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R3845:Celf1
|
UTSW |
2 |
90,839,583 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3857:Celf1
|
UTSW |
2 |
90,843,086 (GRCm39) |
missense |
probably damaging |
0.98 |
R3858:Celf1
|
UTSW |
2 |
90,843,086 (GRCm39) |
missense |
probably damaging |
0.98 |
R5174:Celf1
|
UTSW |
2 |
90,831,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Celf1
|
UTSW |
2 |
90,839,552 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6395:Celf1
|
UTSW |
2 |
90,834,203 (GRCm39) |
missense |
probably benign |
0.01 |
R6993:Celf1
|
UTSW |
2 |
90,840,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R7242:Celf1
|
UTSW |
2 |
90,833,602 (GRCm39) |
nonsense |
probably null |
|
R7419:Celf1
|
UTSW |
2 |
90,833,588 (GRCm39) |
missense |
probably benign |
|
R7502:Celf1
|
UTSW |
2 |
90,835,100 (GRCm39) |
nonsense |
probably null |
|
R7921:Celf1
|
UTSW |
2 |
90,829,092 (GRCm39) |
missense |
probably benign |
0.28 |
R7975:Celf1
|
UTSW |
2 |
90,831,423 (GRCm39) |
missense |
probably damaging |
0.97 |
R8708:Celf1
|
UTSW |
2 |
90,840,925 (GRCm39) |
critical splice donor site |
probably null |
|
R8871:Celf1
|
UTSW |
2 |
90,840,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R9164:Celf1
|
UTSW |
2 |
90,831,426 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Celf1
|
UTSW |
2 |
90,828,939 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1177:Celf1
|
UTSW |
2 |
90,835,050 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCTTGGTGATGAGCATAC -3'
(R):5'- CAAAGCTACTGCCTGACATTTAC -3'
Sequencing Primer
(F):5'- GCCTTGGTGATGAGCATACTTAACAC -3'
(R):5'- AGTTCCTCTGGACCAATACTGTGAG -3'
|
Posted On |
2019-05-13 |