Incidental Mutation 'R7975:Celf1'
ID |
650824 |
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 |
046018-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.826)
|
Stock # |
R7975 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 90831423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 84
(V84G)
|
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 damaging
Transcript: ENSMUST00000005643
AA Change: V111G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000005643 Gene: ENSMUSG00000005506 AA Change: V111G
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 damaging
Transcript: ENSMUST00000068726
AA Change: V84G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000064323 Gene: ENSMUSG00000005506 AA Change: V84G
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 damaging
Transcript: ENSMUST00000068747
AA Change: V84G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000070438 Gene: ENSMUSG00000005506 AA Change: V84G
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 |
possibly damaging
Transcript: ENSMUST00000111448
AA Change: V84G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107075 Gene: ENSMUSG00000005506 AA Change: V84G
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 damaging
Transcript: ENSMUST00000111449
AA Change: V84G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107076 Gene: ENSMUSG00000005506 AA Change: V84G
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 damaging
Transcript: ENSMUST00000111451
AA Change: V84G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107078 Gene: ENSMUSG00000005506 AA Change: V84G
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 damaging
Transcript: ENSMUST00000111452
AA Change: V111G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107079 Gene: ENSMUSG00000005506 AA Change: V111G
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 damaging
Transcript: ENSMUST00000177642
AA Change: V84G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136109 Gene: ENSMUSG00000005506 AA Change: V84G
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 damaging
Transcript: ENSMUST00000111455
AA Change: V111G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107082 Gene: ENSMUSG00000005506 AA Change: V111G
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 |
0.4518 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.3%
|
Validation Efficiency |
100% (53/53) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
T |
C |
10: 88,952,847 (GRCm39) |
I60V |
possibly damaging |
Het |
Ano5 |
T |
A |
7: 51,216,286 (GRCm39) |
M381K |
probably null |
Het |
Aox1 |
T |
A |
1: 58,348,187 (GRCm39) |
I635K |
probably benign |
Het |
Bdp1 |
C |
T |
13: 100,156,884 (GRCm39) |
C2436Y |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,973,620 (GRCm39) |
R2565G |
possibly damaging |
Het |
Brd2 |
A |
T |
17: 34,334,424 (GRCm39) |
I245N |
probably damaging |
Het |
Capn9 |
G |
A |
8: 125,325,515 (GRCm39) |
V258M |
probably damaging |
Het |
Ccar2 |
C |
G |
14: 70,380,918 (GRCm39) |
C324S |
possibly damaging |
Het |
Cd209b |
A |
T |
8: 3,975,948 (GRCm39) |
I71N |
probably benign |
Het |
Cdk12 |
A |
T |
11: 98,111,928 (GRCm39) |
I729F |
unknown |
Het |
Cgn |
G |
T |
3: 94,671,836 (GRCm39) |
A965E |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,632,604 (GRCm39) |
E249G |
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,455,841 (GRCm39) |
H629R |
|
Het |
Cyp2j8 |
T |
C |
4: 96,358,776 (GRCm39) |
N381S |
possibly damaging |
Het |
Dmtf1 |
T |
C |
5: 9,179,169 (GRCm39) |
D343G |
probably damaging |
Het |
Fhl5 |
T |
A |
4: 25,214,730 (GRCm39) |
I16F |
probably benign |
Het |
Gatd1 |
A |
G |
7: 140,989,781 (GRCm39) |
F143S |
probably damaging |
Het |
Gbp10 |
C |
T |
5: 105,368,967 (GRCm39) |
G291R |
probably benign |
Het |
Gm28168 |
T |
C |
1: 117,875,820 (GRCm39) |
Y150H |
probably benign |
Het |
Gm3543 |
T |
C |
14: 41,802,122 (GRCm39) |
M121V |
probably benign |
Het |
Gramd2b |
A |
G |
18: 56,618,451 (GRCm39) |
T220A |
probably benign |
Het |
Gstcd |
A |
G |
3: 132,777,863 (GRCm39) |
L316P |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,282,532 (GRCm39) |
G3424D |
probably benign |
Het |
Ifi209 |
C |
T |
1: 173,468,722 (GRCm39) |
S184F |
probably benign |
Het |
Ino80 |
A |
T |
2: 119,286,948 (GRCm39) |
|
probably null |
Het |
Kcnd3 |
G |
A |
3: 105,366,310 (GRCm39) |
R60H |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,098,911 (GRCm39) |
C1400R |
probably damaging |
Het |
Lama3 |
C |
T |
18: 12,670,796 (GRCm39) |
P794L |
probably damaging |
Het |
Lgals4 |
A |
G |
7: 28,540,346 (GRCm39) |
I214V |
probably benign |
Het |
Lipo4 |
A |
T |
19: 33,490,028 (GRCm39) |
L158Q |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,066,453 (GRCm39) |
Y58H |
probably damaging |
Het |
Mitf |
T |
C |
6: 97,994,990 (GRCm39) |
S479P |
probably benign |
Het |
Mthfr |
A |
T |
4: 148,127,920 (GRCm39) |
D132V |
probably damaging |
Het |
Mtrr |
T |
C |
13: 68,727,666 (GRCm39) |
|
probably null |
Het |
Neb |
T |
A |
2: 52,050,678 (GRCm39) |
H6660L |
probably benign |
Het |
Nhlrc3 |
A |
T |
3: 53,360,966 (GRCm39) |
V263E |
probably damaging |
Het |
Oas1h |
G |
A |
5: 121,009,890 (GRCm39) |
V322M |
probably damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,019 (GRCm39) |
Y203* |
probably null |
Het |
Or2m13 |
T |
A |
16: 19,226,301 (GRCm39) |
D155V |
probably damaging |
Het |
Or4a15 |
C |
T |
2: 89,193,413 (GRCm39) |
R120H |
probably benign |
Het |
Pappa |
A |
T |
4: 65,212,705 (GRCm39) |
D1121V |
probably damaging |
Het |
Pax5 |
A |
G |
4: 44,537,465 (GRCm39) |
S352P |
probably damaging |
Het |
Piezo1 |
C |
A |
8: 123,222,504 (GRCm39) |
R915L |
|
Het |
R3hcc1 |
T |
C |
14: 69,944,593 (GRCm39) |
D7G |
probably damaging |
Het |
Rasgrp2 |
A |
G |
19: 6,458,589 (GRCm39) |
K429E |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,501,286 (GRCm39) |
F166S |
probably benign |
Het |
Scn9a |
T |
G |
2: 66,314,597 (GRCm39) |
N1707T |
probably damaging |
Het |
Sec23ip |
T |
C |
7: 128,364,201 (GRCm39) |
F493S |
probably damaging |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Slfn4 |
A |
T |
11: 83,077,982 (GRCm39) |
I257F |
possibly damaging |
Het |
Smarcal1 |
T |
A |
1: 72,652,150 (GRCm39) |
D637E |
probably benign |
Het |
Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
Sos2 |
A |
T |
12: 69,639,814 (GRCm39) |
F990L |
probably benign |
Het |
Spata31h1 |
C |
T |
10: 82,119,823 (GRCm39) |
A4396T |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 4,981,786 (GRCm39) |
T844A |
probably benign |
Het |
Tph1 |
G |
A |
7: 46,306,678 (GRCm39) |
R145C |
probably damaging |
Het |
Ubap2l |
G |
A |
3: 89,946,076 (GRCm39) |
|
probably null |
Het |
Vmn2r50 |
T |
C |
7: 9,771,272 (GRCm39) |
I810V |
probably benign |
Het |
Vmn2r59 |
T |
C |
7: 41,693,199 (GRCm39) |
D467G |
probably damaging |
Het |
Zfp618 |
T |
A |
4: 63,049,352 (GRCm39) |
N417K |
possibly damaging |
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 |
R7063:Celf1
|
UTSW |
2 |
90,843,189 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- AAGGTAACAGCCTTCATCCC -3'
(R):5'- GCAGCAAGAACTACTTTTGGTCTC -3'
Sequencing Primer
(F):5'- CCTCAGTTTTAGTAAGCTCGTTCAGG -3'
(R):5'- AAGAACTACTTTTGGTCTCTCTCTTC -3'
|
Posted On |
2020-09-15 |