Incidental Mutation 'IGL02126:Celf1'
ID |
280885 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Celf1
|
Ensembl Gene |
ENSMUSG00000005506 |
Gene Name |
CUGBP, Elav-like family member 1 |
Synonyms |
CUG-BP1, CUG-BP, D2Wsu101e, Brunol2, Cugbp1, 1600010O03Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.839)
|
Stock # |
IGL02126
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 90831408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 79
(L79H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064323
(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: L106H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000005643 Gene: ENSMUSG00000005506 AA Change: L106H
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: L79H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064323 Gene: ENSMUSG00000005506 AA Change: L79H
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: L79H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070438 Gene: ENSMUSG00000005506 AA Change: L79H
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: ENSMUST00000111448
AA Change: L79H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107075 Gene: ENSMUSG00000005506 AA Change: L79H
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: L79H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107076 Gene: ENSMUSG00000005506 AA Change: L79H
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: L79H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107078 Gene: ENSMUSG00000005506 AA Change: L79H
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: L106H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107079 Gene: ENSMUSG00000005506 AA Change: L106H
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: L79H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136109 Gene: ENSMUSG00000005506 AA Change: L79H
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: L106H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107082 Gene: ENSMUSG00000005506 AA Change: L106H
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 |
noncoding transcript
Transcript: ENSMUST00000127580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154442
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Angptl3 |
T |
C |
4: 98,919,738 (GRCm39) |
|
probably null |
Het |
Atoh1 |
T |
C |
6: 64,706,334 (GRCm39) |
W10R |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Ccm2 |
A |
G |
11: 6,544,154 (GRCm39) |
T317A |
probably damaging |
Het |
Ccnt1 |
A |
T |
15: 98,465,484 (GRCm39) |
W12R |
probably damaging |
Het |
Cmip |
T |
C |
8: 118,175,770 (GRCm39) |
V423A |
probably damaging |
Het |
Ddr1 |
T |
A |
17: 35,999,481 (GRCm39) |
I431F |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,080,149 (GRCm39) |
L2343P |
probably benign |
Het |
Duox1 |
A |
G |
2: 122,176,817 (GRCm39) |
D1446G |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,419,599 (GRCm39) |
H231R |
possibly damaging |
Het |
Fam221b |
T |
A |
4: 43,666,450 (GRCm39) |
I54F |
probably benign |
Het |
Fcgbpl1 |
G |
A |
7: 27,839,281 (GRCm39) |
V365M |
probably damaging |
Het |
Galntl5 |
T |
C |
5: 25,394,839 (GRCm39) |
F69L |
possibly damaging |
Het |
Gba2 |
T |
G |
4: 43,567,918 (GRCm39) |
|
probably null |
Het |
Gbf1 |
C |
A |
19: 46,240,556 (GRCm39) |
P46Q |
probably damaging |
Het |
Gimap6 |
T |
G |
6: 48,679,635 (GRCm39) |
S134R |
probably damaging |
Het |
Gm5424 |
A |
C |
10: 61,907,377 (GRCm39) |
|
noncoding transcript |
Het |
Hexb |
T |
C |
13: 97,314,532 (GRCm39) |
K404E |
possibly damaging |
Het |
Hs3st3a1 |
G |
A |
11: 64,327,331 (GRCm39) |
V147M |
probably damaging |
Het |
Hsd17b4 |
T |
C |
18: 50,315,063 (GRCm39) |
V610A |
probably benign |
Het |
Loxl3 |
T |
A |
6: 83,025,628 (GRCm39) |
W329R |
probably damaging |
Het |
Lrrc52 |
A |
G |
1: 167,273,575 (GRCm39) |
F247S |
probably damaging |
Het |
Naa38 |
C |
T |
11: 69,287,045 (GRCm39) |
R42W |
probably damaging |
Het |
Nadsyn1 |
G |
A |
7: 143,357,753 (GRCm39) |
Q485* |
probably null |
Het |
Nid1 |
A |
G |
13: 13,663,743 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
T |
C |
13: 40,362,251 (GRCm39) |
T224A |
probably benign |
Het |
Or5m11b |
T |
G |
2: 85,806,517 (GRCm39) |
I310S |
probably benign |
Het |
Palld |
A |
G |
8: 62,330,476 (GRCm39) |
Y134H |
possibly damaging |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Pfn3 |
T |
C |
13: 55,562,699 (GRCm39) |
D94G |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,187,419 (GRCm39) |
R3630C |
probably damaging |
Het |
Por |
T |
A |
5: 135,744,829 (GRCm39) |
F31I |
probably benign |
Het |
Ppp1r12c |
T |
C |
7: 4,492,858 (GRCm39) |
E127G |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 5,156,229 (GRCm39) |
S1162T |
probably damaging |
Het |
Psen2 |
C |
A |
1: 180,057,488 (GRCm39) |
A297S |
probably benign |
Het |
Rpusd2 |
G |
A |
2: 118,869,119 (GRCm39) |
R514Q |
probably damaging |
Het |
Rxrg |
A |
G |
1: 167,462,029 (GRCm39) |
M235V |
probably damaging |
Het |
Sash1 |
T |
C |
10: 8,615,229 (GRCm39) |
M644V |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
Slco1a7 |
T |
A |
6: 141,684,739 (GRCm39) |
T239S |
probably benign |
Het |
Ssu72 |
T |
C |
4: 155,816,483 (GRCm39) |
I155T |
probably benign |
Het |
Tas2r102 |
A |
G |
6: 132,739,607 (GRCm39) |
R172G |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trav12-2 |
C |
A |
14: 53,853,859 (GRCm39) |
N2K |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,755,845 (GRCm39) |
Q205* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,180,052 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
G |
1: 187,995,588 (GRCm39) |
S120G |
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,741,504 (GRCm39) |
|
probably benign |
Het |
Zer1 |
G |
T |
2: 29,994,928 (GRCm39) |
T489K |
probably benign |
Het |
Zfp955b |
G |
T |
17: 33,521,238 (GRCm39) |
G236* |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |