Incidental Mutation 'IGL02402:Celf1'
ID |
291936 |
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: 0.826)
|
Stock # |
IGL02402
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 90829068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 45
(I45N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005643]
[ENSMUST00000068726]
[ENSMUST00000068747]
[ENSMUST00000111448]
[ENSMUST00000111449]
[ENSMUST00000111451]
[ENSMUST00000177642]
[ENSMUST00000111452]
[ENSMUST00000111455]
|
AlphaFold |
P28659 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005643
AA Change: I72N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005643 Gene: ENSMUSG00000005506 AA Change: I72N
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: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064323 Gene: ENSMUSG00000005506 AA Change: I45N
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: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070438 Gene: ENSMUSG00000005506 AA Change: I45N
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: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107075 Gene: ENSMUSG00000005506 AA Change: I45N
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: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107076 Gene: ENSMUSG00000005506 AA Change: I45N
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: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107078 Gene: ENSMUSG00000005506 AA Change: I45N
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: ENSMUST00000177642
AA Change: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136109 Gene: ENSMUSG00000005506 AA Change: I45N
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: I72N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107079 Gene: ENSMUSG00000005506 AA Change: I72N
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: ENSMUST00000111455
AA Change: I72N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107082 Gene: ENSMUSG00000005506 AA Change: I72N
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,707,543 (GRCm39) |
F568L |
probably benign |
Het |
AW112010 |
T |
A |
19: 11,025,741 (GRCm39) |
|
noncoding transcript |
Het |
Bbs4 |
A |
T |
9: 59,237,729 (GRCm39) |
L205H |
probably benign |
Het |
Bmal2 |
T |
C |
6: 146,711,266 (GRCm39) |
V90A |
possibly damaging |
Het |
C2cd2l |
T |
C |
9: 44,227,878 (GRCm39) |
K121R |
probably benign |
Het |
Car14 |
A |
G |
3: 95,806,870 (GRCm39) |
V198A |
possibly damaging |
Het |
Cd22 |
G |
T |
7: 30,576,955 (GRCm39) |
H117Q |
possibly damaging |
Het |
Cluh |
T |
C |
11: 74,547,997 (GRCm39) |
S103P |
probably damaging |
Het |
Cyp39a1 |
T |
A |
17: 44,002,613 (GRCm39) |
L276Q |
probably benign |
Het |
Ddx27 |
T |
G |
2: 166,857,245 (GRCm39) |
|
probably benign |
Het |
Defb4 |
A |
T |
8: 19,251,279 (GRCm39) |
I49F |
possibly damaging |
Het |
Dock8 |
C |
A |
19: 25,055,509 (GRCm39) |
T157K |
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,839,541 (GRCm39) |
V352A |
probably damaging |
Het |
Elmo2 |
C |
T |
2: 165,139,312 (GRCm39) |
E412K |
probably damaging |
Het |
Eme1 |
G |
A |
11: 94,541,733 (GRCm39) |
P30S |
possibly damaging |
Het |
Espnl |
G |
T |
1: 91,272,535 (GRCm39) |
A632S |
probably benign |
Het |
Gfod1 |
C |
A |
13: 43,354,211 (GRCm39) |
A255S |
probably benign |
Het |
Helz2 |
T |
A |
2: 180,872,704 (GRCm39) |
K2432M |
probably damaging |
Het |
Idua |
T |
C |
5: 108,827,657 (GRCm39) |
L157P |
probably damaging |
Het |
Ifi207 |
T |
A |
1: 173,555,159 (GRCm39) |
D848V |
probably damaging |
Het |
Jag1 |
C |
T |
2: 136,927,858 (GRCm39) |
S851N |
possibly damaging |
Het |
Kat6b |
T |
A |
14: 21,681,415 (GRCm39) |
F571I |
probably damaging |
Het |
Lrrc74b |
G |
A |
16: 17,376,028 (GRCm39) |
|
probably benign |
Het |
Mst1r |
A |
G |
9: 107,794,026 (GRCm39) |
K1160E |
probably damaging |
Het |
Muc19 |
C |
A |
15: 91,778,192 (GRCm39) |
|
noncoding transcript |
Het |
Nrg4 |
G |
A |
9: 55,135,198 (GRCm39) |
|
probably benign |
Het |
Ociad1 |
T |
C |
5: 73,458,037 (GRCm39) |
I12T |
possibly damaging |
Het |
Or1o3 |
A |
G |
17: 37,574,111 (GRCm39) |
V148A |
possibly damaging |
Het |
Pold3 |
A |
G |
7: 99,749,618 (GRCm39) |
|
probably benign |
Het |
Psmd5 |
T |
C |
2: 34,747,784 (GRCm39) |
E291G |
probably damaging |
Het |
Ptpn23 |
A |
G |
9: 110,222,781 (GRCm39) |
V92A |
possibly damaging |
Het |
Rab44 |
T |
A |
17: 29,359,490 (GRCm39) |
H559Q |
probably benign |
Het |
Rbm6 |
T |
C |
9: 107,730,051 (GRCm39) |
D199G |
probably damaging |
Het |
Rps18-ps3 |
C |
T |
8: 107,989,754 (GRCm39) |
|
noncoding transcript |
Het |
Septin10 |
T |
C |
10: 59,006,758 (GRCm39) |
T93A |
probably benign |
Het |
Slmap |
T |
C |
14: 26,184,865 (GRCm39) |
T111A |
probably damaging |
Het |
Spata25 |
C |
T |
2: 164,670,377 (GRCm39) |
M1I |
probably null |
Het |
Spink5 |
T |
A |
18: 44,100,171 (GRCm39) |
C63S |
probably damaging |
Het |
Sycp3 |
T |
C |
10: 88,302,425 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,177,567 (GRCm39) |
|
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,891,716 (GRCm39) |
N940K |
probably benign |
Het |
Tmem106b |
A |
T |
6: 13,081,600 (GRCm39) |
Q169L |
possibly damaging |
Het |
Trpm6 |
G |
T |
19: 18,764,120 (GRCm39) |
C242F |
probably benign |
Het |
Ush2a |
T |
A |
1: 187,999,305 (GRCm39) |
M205K |
probably benign |
Het |
Utp18 |
A |
C |
11: 93,774,617 (GRCm39) |
|
probably benign |
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 |
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 |