Incidental Mutation 'IGL02350:Celf1'
ID |
289729 |
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 # |
IGL02350
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90828933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 27
(K27I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005643]
[ENSMUST00000068726]
[ENSMUST00000068747]
[ENSMUST00000111448]
[ENSMUST00000111449]
[ENSMUST00000111451]
[ENSMUST00000111452]
[ENSMUST00000111455]
[ENSMUST00000177642]
|
AlphaFold |
P28659 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005643
AA Change: K27I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000005643 Gene: ENSMUSG00000005506 AA Change: K27I
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 benign
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 benign
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 benign
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 benign
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 benign
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 damaging
Transcript: ENSMUST00000111452
AA Change: K27I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107079 Gene: ENSMUSG00000005506 AA Change: K27I
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: K27I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107082 Gene: ENSMUSG00000005506 AA Change: K27I
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: ENSMUST00000154442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127580
|
Predicted Effect |
probably benign
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 |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
Adamts16 |
T |
A |
13: 70,886,704 (GRCm39) |
T1029S |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,418,974 (GRCm39) |
C6007F |
probably benign |
Het |
Ak8 |
A |
T |
2: 28,590,225 (GRCm39) |
H8L |
probably benign |
Het |
Apol7b |
A |
G |
15: 77,307,832 (GRCm39) |
V221A |
probably benign |
Het |
BC005624 |
G |
A |
2: 30,863,779 (GRCm39) |
P235S |
probably benign |
Het |
Cd96 |
A |
G |
16: 45,890,139 (GRCm39) |
|
probably benign |
Het |
Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
Cyp3a59 |
T |
C |
5: 146,016,152 (GRCm39) |
L3P |
probably damaging |
Het |
Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
Dph3b-ps |
A |
G |
13: 106,683,453 (GRCm39) |
|
noncoding transcript |
Het |
Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,237,067 (GRCm39) |
N645K |
possibly damaging |
Het |
Fes |
T |
C |
7: 80,033,578 (GRCm39) |
|
probably null |
Het |
Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
Gm5145 |
A |
T |
17: 20,790,702 (GRCm39) |
I27F |
probably damaging |
Het |
Hecw1 |
A |
G |
13: 14,422,923 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
G |
4: 119,980,222 (GRCm39) |
C1753W |
probably damaging |
Het |
Hook2 |
C |
T |
8: 85,721,614 (GRCm39) |
Q291* |
probably null |
Het |
Jakmip2 |
T |
C |
18: 43,680,192 (GRCm39) |
T722A |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
Ngdn |
T |
A |
14: 55,259,393 (GRCm39) |
V179E |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
Or10am5 |
T |
A |
7: 6,518,225 (GRCm39) |
M68L |
probably damaging |
Het |
Or2b7 |
A |
G |
13: 21,739,772 (GRCm39) |
L140P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
Plcb3 |
A |
C |
19: 6,935,546 (GRCm39) |
L789R |
probably damaging |
Het |
Plek |
C |
T |
11: 16,931,846 (GRCm39) |
R335H |
probably damaging |
Het |
Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
Rusc2 |
T |
G |
4: 43,425,351 (GRCm39) |
V1152G |
possibly damaging |
Het |
Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
Slc22a22 |
A |
G |
15: 57,110,844 (GRCm39) |
V461A |
probably benign |
Het |
Slc35e4 |
C |
T |
11: 3,862,640 (GRCm39) |
R183Q |
probably benign |
Het |
Spen |
T |
C |
4: 141,204,890 (GRCm39) |
T1246A |
unknown |
Het |
Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,539,963 (GRCm39) |
V34341A |
probably benign |
Het |
Vxn |
T |
C |
1: 9,683,544 (GRCm39) |
I44T |
possibly damaging |
Het |
Wwox |
T |
C |
8: 115,438,882 (GRCm39) |
V316A |
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 |
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 |