Incidental Mutation 'R5174:Celf1'
ID |
470564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Celf1
|
Ensembl Gene |
ENSMUSG00000005506 |
Gene Name |
CUGBP, Elav-like family member 1 |
Synonyms |
CUG-BP1, CUG-BP, D2Wsu101e, Brunol2, Cugbp1, 1600010O03Rik |
MMRRC Submission |
042754-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.826)
|
Stock # |
R5174 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90831353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 61
(C61R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064323
(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: C88R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000005643 Gene: ENSMUSG00000005506 AA Change: C88R
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: C61R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064323 Gene: ENSMUSG00000005506 AA Change: C61R
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: C61R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000070438 Gene: ENSMUSG00000005506 AA Change: C61R
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: C61R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107075 Gene: ENSMUSG00000005506 AA Change: C61R
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: C61R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107076 Gene: ENSMUSG00000005506 AA Change: C61R
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: C61R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107078 Gene: ENSMUSG00000005506 AA Change: C61R
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 |
noncoding transcript
Transcript: ENSMUST00000154442
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177642
AA Change: C61R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000136109 Gene: ENSMUSG00000005506 AA Change: C61R
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: C88R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107079 Gene: ENSMUSG00000005506 AA Change: C88R
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: C88R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107082 Gene: ENSMUSG00000005506 AA Change: C88R
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
|
Meta Mutation Damage Score |
0.9185 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
99% (69/70) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
T |
C |
10: 69,728,209 (GRCm39) |
S632P |
probably damaging |
Het |
Arhgef16 |
G |
A |
4: 154,366,504 (GRCm39) |
R451W |
probably damaging |
Het |
Asxl3 |
A |
T |
18: 22,656,172 (GRCm39) |
D1394V |
probably benign |
Het |
Atp2a3 |
T |
A |
11: 72,871,041 (GRCm39) |
I545N |
probably damaging |
Het |
Cadps2 |
T |
A |
6: 23,287,742 (GRCm39) |
Y1181F |
probably damaging |
Het |
Camkmt |
C |
A |
17: 85,759,665 (GRCm39) |
F268L |
probably benign |
Het |
Casp14 |
C |
T |
10: 78,551,225 (GRCm39) |
G20D |
possibly damaging |
Het |
Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
Cers3 |
A |
T |
7: 66,434,616 (GRCm39) |
K203M |
probably damaging |
Het |
Clip4 |
T |
C |
17: 72,117,957 (GRCm39) |
F334S |
probably damaging |
Het |
Cyp2b13 |
T |
A |
7: 25,788,118 (GRCm39) |
D415E |
possibly damaging |
Het |
Decr2 |
A |
T |
17: 26,306,443 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,352,768 (GRCm39) |
|
probably null |
Het |
Dnah7b |
G |
A |
1: 46,282,509 (GRCm39) |
A2881T |
possibly damaging |
Het |
Dnaja3 |
A |
G |
16: 4,502,161 (GRCm39) |
H55R |
probably benign |
Het |
Dnajc11 |
T |
C |
4: 152,064,441 (GRCm39) |
F531L |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,938,687 (GRCm39) |
F10L |
probably benign |
Het |
Epm2aip1 |
T |
C |
9: 111,102,455 (GRCm39) |
F476S |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,910,866 (GRCm39) |
N1712S |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,448,893 (GRCm39) |
V1343A |
possibly damaging |
Het |
Fsip2 |
C |
T |
2: 82,811,085 (GRCm39) |
P2468L |
probably benign |
Het |
Gm5798 |
A |
G |
14: 41,070,620 (GRCm39) |
H10R |
possibly damaging |
Het |
Gm7168 |
A |
G |
17: 14,168,717 (GRCm39) |
Y28C |
probably damaging |
Het |
Gtpbp6 |
G |
A |
5: 110,255,983 (GRCm39) |
R19C |
possibly damaging |
Het |
Gucy2e |
A |
G |
11: 69,127,392 (GRCm39) |
F27S |
probably benign |
Het |
Inhca |
C |
T |
9: 103,159,755 (GRCm39) |
|
probably null |
Het |
Krba1 |
A |
G |
6: 48,389,229 (GRCm39) |
E548G |
probably damaging |
Het |
Ltbr |
A |
G |
6: 125,286,500 (GRCm39) |
S229P |
probably benign |
Het |
Mgat5b |
A |
T |
11: 116,868,541 (GRCm39) |
Y488F |
probably benign |
Het |
Mia3 |
T |
A |
1: 183,112,348 (GRCm39) |
K475* |
probably null |
Het |
Mrpl53 |
C |
T |
6: 83,086,638 (GRCm39) |
T114M |
possibly damaging |
Het |
Mrps35 |
T |
C |
6: 146,961,709 (GRCm39) |
Y195H |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,570,556 (GRCm39) |
I539F |
possibly damaging |
Het |
Nedd1 |
T |
A |
10: 92,547,074 (GRCm39) |
T150S |
possibly damaging |
Het |
Nox4 |
T |
G |
7: 86,972,974 (GRCm39) |
I327S |
probably benign |
Het |
Nrk |
C |
G |
X: 137,887,528 (GRCm39) |
A1018G |
probably benign |
Het |
Or4c102 |
T |
A |
2: 88,422,992 (GRCm39) |
N281K |
probably damaging |
Het |
Or4d5 |
T |
C |
9: 40,012,043 (GRCm39) |
T248A |
possibly damaging |
Het |
Or52ae7 |
T |
A |
7: 103,119,610 (GRCm39) |
F121L |
probably benign |
Het |
Or5w19 |
T |
A |
2: 87,698,755 (GRCm39) |
V140E |
possibly damaging |
Het |
Pdzd2 |
G |
A |
15: 12,372,600 (GRCm39) |
P2512S |
probably benign |
Het |
Ptgis |
T |
A |
2: 167,045,390 (GRCm39) |
|
probably null |
Het |
Rnf170 |
T |
A |
8: 26,619,196 (GRCm39) |
M140K |
probably benign |
Het |
Scaf4 |
A |
T |
16: 90,044,062 (GRCm39) |
I637K |
unknown |
Het |
Sdccag8 |
A |
T |
1: 176,672,916 (GRCm39) |
T270S |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,158,575 (GRCm39) |
C1022R |
probably damaging |
Het |
Sec63 |
T |
C |
10: 42,705,077 (GRCm39) |
|
probably benign |
Het |
Serpinb3d |
C |
G |
1: 107,006,228 (GRCm39) |
E287Q |
possibly damaging |
Het |
Silc1 |
A |
T |
12: 27,192,027 (GRCm39) |
|
noncoding transcript |
Het |
Smarcd2 |
A |
G |
11: 106,157,871 (GRCm39) |
|
probably benign |
Het |
Sox15 |
A |
G |
11: 69,546,545 (GRCm39) |
Y116C |
probably damaging |
Het |
Spag16 |
T |
C |
1: 70,532,955 (GRCm39) |
S545P |
probably damaging |
Het |
Ssc5d |
C |
A |
7: 4,930,970 (GRCm39) |
T184N |
possibly damaging |
Het |
St6galnac2 |
A |
T |
11: 116,572,773 (GRCm39) |
F228I |
probably damaging |
Het |
Syne1 |
T |
C |
10: 4,991,490 (GRCm39) |
N8408S |
probably damaging |
Het |
Trank1 |
A |
C |
9: 111,194,627 (GRCm39) |
T884P |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,839,506 (GRCm39) |
L1540H |
probably damaging |
Het |
Ugt2b37 |
C |
A |
5: 87,399,739 (GRCm39) |
M256I |
probably benign |
Het |
Vmn2r69 |
G |
A |
7: 85,064,739 (GRCm39) |
T49I |
possibly damaging |
Het |
Vmn2r72 |
T |
A |
7: 85,387,048 (GRCm39) |
I839L |
probably benign |
Het |
Zcrb1 |
A |
G |
15: 93,285,456 (GRCm39) |
|
probably null |
Het |
Zfp319 |
A |
T |
8: 96,054,797 (GRCm39) |
|
probably null |
Het |
Zfp592 |
T |
C |
7: 80,688,073 (GRCm39) |
S1000P |
probably damaging |
Het |
Zfp938 |
T |
C |
10: 82,061,838 (GRCm39) |
N261D |
possibly damaging |
Het |
Zfp957 |
A |
G |
14: 79,450,828 (GRCm39) |
S324P |
unknown |
Het |
Zswim6 |
G |
T |
13: 107,863,216 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTACAGCACCTCTACAGCTC -3'
(R):5'- GCAGCAAGAACTACTTTTGGTC -3'
Sequencing Primer
(F):5'- AGCAGTGCTGTAGGGATA -3'
(R):5'- TTTTCACAGTAATTCCCACAGCAAAG -3'
|
Posted On |
2017-03-14 |