Incidental Mutation 'IGL02522:Celf1'
| ID |
296918 |
| 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 # |
IGL02522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90839646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 357
(V357A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005643]
[ENSMUST00000068726]
[ENSMUST00000068747]
[ENSMUST00000111448]
[ENSMUST00000111449]
[ENSMUST00000111451]
[ENSMUST00000111452]
[ENSMUST00000177642]
[ENSMUST00000111455]
|
| AlphaFold |
P28659 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005643
AA Change: V357A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: V357A
| 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
AA Change: V331A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: V331A
| 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
AA Change: V330A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: V330A
| 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: V327A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: V327A
| 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
AA Change: V330A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: V330A
| 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
AA Change: V330A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: V330A
| 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: ENSMUST00000111452
AA Change: V357A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: V357A
| 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: ENSMUST00000177642
AA Change: V330A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: V330A
| 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: ENSMUST00000111455
AA Change: V357A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: V357A
| 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: ENSMUST00000127385
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
G |
10: 78,903,633 (GRCm39) |
S228P |
probably benign |
Het |
| Apba1 |
T |
C |
19: 23,889,809 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
T |
C |
12: 84,974,684 (GRCm39) |
D486G |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,716 (GRCm39) |
S1833G |
probably benign |
Het |
| Ctsa |
T |
C |
2: 164,681,061 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
G |
A |
3: 86,827,423 (GRCm39) |
P19S |
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,351,381 (GRCm39) |
H308R |
probably benign |
Het |
| Dst |
A |
T |
1: 34,289,781 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,762,336 (GRCm39) |
M201K |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,767,154 (GRCm39) |
D93G |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,676 (GRCm39) |
K172R |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,148,746 (GRCm39) |
S386P |
possibly damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,015,705 (GRCm39) |
N29S |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,655,617 (GRCm39) |
D1127G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,419,298 (GRCm39) |
D2921V |
possibly damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,259,013 (GRCm39) |
Y1125F |
probably benign |
Het |
| Psg20 |
T |
A |
7: 18,416,356 (GRCm39) |
L253F |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,979,504 (GRCm39) |
K209R |
possibly damaging |
Het |
| Rpsa |
A |
T |
9: 119,960,121 (GRCm39) |
Q228L |
possibly damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,181 (GRCm39) |
I160V |
probably benign |
Het |
| Tec |
C |
T |
5: 72,946,515 (GRCm39) |
V71I |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,540,612 (GRCm39) |
E1463G |
probably benign |
Het |
| Trim12a |
C |
T |
7: 103,950,038 (GRCm39) |
|
probably null |
Het |
| Vcan |
G |
T |
13: 89,852,968 (GRCm39) |
T664K |
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 |
|
IGL02402:Celf1
|
APN |
2 |
90,829,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation