Incidental Mutation 'IGL02183:Celf1'
ID |
284291 |
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 # |
IGL02183
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90831831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 96
(P96S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005643]
[ENSMUST00000068726]
[ENSMUST00000068747]
[ENSMUST00000111448]
[ENSMUST00000111449]
[ENSMUST00000111451]
[ENSMUST00000177642]
[ENSMUST00000111455]
[ENSMUST00000111452]
|
AlphaFold |
P28659 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005643
AA Change: P123S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000005643 Gene: ENSMUSG00000005506 AA Change: P123S
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: P96S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064323 Gene: ENSMUSG00000005506 AA Change: P96S
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: P96S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000070438 Gene: ENSMUSG00000005506 AA Change: P96S
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: P96S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107075 Gene: ENSMUSG00000005506 AA Change: P96S
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: P96S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107076 Gene: ENSMUSG00000005506 AA Change: P96S
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: P96S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107078 Gene: ENSMUSG00000005506 AA Change: P96S
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: P96S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136109 Gene: ENSMUSG00000005506 AA Change: P96S
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: P123S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107082 Gene: ENSMUSG00000005506 AA Change: P123S
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: ENSMUST00000111452
AA Change: P123S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107079 Gene: ENSMUSG00000005506 AA Change: P123S
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace2 |
T |
A |
X: 162,960,465 (GRCm39) |
|
probably benign |
Het |
Acsm4 |
A |
T |
7: 119,293,075 (GRCm39) |
|
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,084,925 (GRCm39) |
M374T |
probably damaging |
Het |
Arid4b |
A |
G |
13: 14,344,575 (GRCm39) |
E551G |
possibly damaging |
Het |
Bag4 |
A |
T |
8: 26,258,058 (GRCm39) |
L423Q |
probably damaging |
Het |
Cracdl |
G |
A |
1: 37,664,459 (GRCm39) |
P480S |
possibly damaging |
Het |
Cry2 |
G |
A |
2: 92,243,384 (GRCm39) |
R486W |
probably damaging |
Het |
Csn1s1 |
G |
A |
5: 87,825,477 (GRCm39) |
S228N |
possibly damaging |
Het |
Ctnnd2 |
A |
G |
15: 31,020,886 (GRCm39) |
Y1124C |
probably damaging |
Het |
Cyp2j7 |
T |
C |
4: 96,118,384 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
T |
4: 98,847,228 (GRCm39) |
C1695S |
possibly damaging |
Het |
Elmo3 |
T |
C |
8: 106,034,955 (GRCm39) |
L415P |
probably benign |
Het |
Entpd5 |
A |
G |
12: 84,427,154 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
T |
C |
17: 79,149,660 (GRCm39) |
|
probably null |
Het |
Gprin3 |
C |
A |
6: 59,330,147 (GRCm39) |
R720I |
possibly damaging |
Het |
Gria4 |
T |
G |
9: 4,502,460 (GRCm39) |
T358P |
probably damaging |
Het |
Hcn2 |
T |
C |
10: 79,560,647 (GRCm39) |
|
probably null |
Het |
Hivep3 |
A |
G |
4: 119,989,221 (GRCm39) |
T1891A |
probably benign |
Het |
Hmgcr |
A |
G |
13: 96,799,635 (GRCm39) |
V153A |
probably damaging |
Het |
Ifnar1 |
T |
C |
16: 91,302,034 (GRCm39) |
V503A |
possibly damaging |
Het |
Igf2r |
G |
A |
17: 12,917,403 (GRCm39) |
|
probably benign |
Het |
Ighg2b |
A |
G |
12: 113,271,449 (GRCm39) |
S35P |
unknown |
Het |
Jmy |
T |
C |
13: 93,635,750 (GRCm39) |
D22G |
possibly damaging |
Het |
Kdm5b |
T |
C |
1: 134,552,669 (GRCm39) |
I1215T |
probably benign |
Het |
Krt84 |
T |
C |
15: 101,440,791 (GRCm39) |
I134V |
unknown |
Het |
Magi3 |
T |
A |
3: 103,992,663 (GRCm39) |
M270L |
probably benign |
Het |
Maneal |
G |
A |
4: 124,754,209 (GRCm39) |
T198I |
probably benign |
Het |
Map7d3 |
A |
G |
X: 55,867,591 (GRCm39) |
|
probably benign |
Het |
Myh7 |
T |
A |
14: 55,212,188 (GRCm39) |
T1519S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,074,518 (GRCm39) |
|
probably benign |
Het |
Naip5 |
T |
C |
13: 100,358,150 (GRCm39) |
S1029G |
probably benign |
Het |
Or14j1 |
G |
T |
17: 38,146,304 (GRCm39) |
C138F |
probably damaging |
Het |
Or4c11c |
A |
T |
2: 88,662,372 (GRCm39) |
I304F |
probably benign |
Het |
Or4g16 |
T |
A |
2: 111,136,763 (GRCm39) |
V71E |
probably damaging |
Het |
Or5d14 |
T |
C |
2: 87,880,333 (GRCm39) |
T212A |
possibly damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,184 (GRCm39) |
Q133L |
probably benign |
Het |
Pald1 |
A |
T |
10: 61,182,920 (GRCm39) |
|
probably benign |
Het |
Pan2 |
T |
A |
10: 128,144,944 (GRCm39) |
H230Q |
possibly damaging |
Het |
Pcdh9 |
T |
C |
14: 94,123,720 (GRCm39) |
I817V |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,153,705 (GRCm39) |
S2547P |
probably benign |
Het |
Ppargc1b |
T |
A |
18: 61,442,167 (GRCm39) |
|
probably null |
Het |
Prdm6 |
T |
C |
18: 53,597,749 (GRCm39) |
|
probably benign |
Het |
Prr5l |
A |
T |
2: 101,602,465 (GRCm39) |
|
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 185,003,665 (GRCm39) |
L1020* |
probably null |
Het |
Rhbdf1 |
T |
C |
11: 32,160,543 (GRCm39) |
H669R |
probably damaging |
Het |
Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
Rnf17 |
T |
A |
14: 56,745,325 (GRCm39) |
D1360E |
probably null |
Het |
Sag |
T |
C |
1: 87,756,197 (GRCm39) |
|
probably null |
Het |
Scn2a |
C |
T |
2: 65,501,947 (GRCm39) |
T90I |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,314,955 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
T |
C |
1: 106,926,640 (GRCm39) |
M212T |
probably damaging |
Het |
Slc39a14 |
C |
T |
14: 70,544,134 (GRCm39) |
G484E |
possibly damaging |
Het |
Slco1a1 |
A |
T |
6: 141,867,669 (GRCm39) |
|
probably benign |
Het |
Slitrk3 |
A |
T |
3: 72,957,312 (GRCm39) |
Y487N |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,836,671 (GRCm39) |
M279T |
probably benign |
Het |
Tmem161b |
T |
C |
13: 84,420,373 (GRCm39) |
Y125H |
probably damaging |
Het |
Tmem71 |
A |
G |
15: 66,426,874 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
C |
16: 32,188,201 (GRCm39) |
F142L |
probably damaging |
Het |
Vmn2r22 |
A |
G |
6: 123,614,963 (GRCm39) |
L209P |
probably damaging |
Het |
Wdr73 |
A |
T |
7: 80,543,508 (GRCm39) |
W136R |
probably damaging |
Het |
Wif1 |
C |
T |
10: 120,911,181 (GRCm39) |
R107C |
probably damaging |
Het |
Ythdf2 |
G |
T |
4: 131,932,885 (GRCm39) |
L92M |
probably benign |
Het |
Zfp53 |
T |
A |
17: 21,720,512 (GRCm39) |
I34N |
possibly damaging |
Het |
Zpld2 |
A |
G |
4: 133,929,291 (GRCm39) |
L338S |
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 |
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 |