Incidental Mutation 'R3857:Celf1'
| ID |
276204 |
| 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 |
040785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.839)
|
| Stock # |
R3857 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90843086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 411
(E411G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005643]
[ENSMUST00000068726]
[ENSMUST00000068747]
[ENSMUST00000111448]
[ENSMUST00000111449]
[ENSMUST00000111451]
[ENSMUST00000111452]
[ENSMUST00000177642]
[ENSMUST00000111455]
|
| AlphaFold |
P28659 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005643
AA Change: E438G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: E438G
| 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 |
possibly damaging
Transcript: ENSMUST00000068726
AA Change: E412G
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: E412G
| 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: E411G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: E411G
| 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: E408G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: E408G
| 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: E411G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: E411G
| 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: E411G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: E411G
| 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: E438G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: E438G
| 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
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177642
AA Change: E411G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: E411G
| 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: E438G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: E438G
| 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 |
|
| Meta Mutation Damage Score |
0.6054 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdkrb2 |
T |
C |
12: 105,558,698 (GRCm39) |
V313A |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,396 (GRCm39) |
D656G |
probably damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,979,016 (GRCm39) |
D133E |
unknown |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ercc8 |
A |
G |
13: 108,330,648 (GRCm39) |
E395G |
possibly damaging |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,209,668 (GRCm39) |
L99P |
probably benign |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Gse1 |
T |
A |
8: 121,297,872 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
| Irx1 |
A |
T |
13: 72,111,577 (GRCm39) |
Y11N |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,966,440 (GRCm39) |
I1658N |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
| Pcna |
A |
T |
2: 132,091,541 (GRCm39) |
S261T |
probably benign |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pitpnc1 |
T |
C |
11: 107,211,631 (GRCm39) |
|
probably null |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 79,999,603 (GRCm39) |
T7A |
possibly damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
| Spice1 |
T |
C |
16: 44,175,806 (GRCm39) |
S2P |
probably damaging |
Het |
| Spty2d1 |
G |
A |
7: 46,648,044 (GRCm39) |
T295I |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,027,633 (GRCm39) |
Q874R |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,739,319 (GRCm39) |
D3740V |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,098 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Zfp101 |
G |
T |
17: 33,601,405 (GRCm39) |
S79* |
probably null |
Het |
| Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,631,479 (GRCm39) |
I1372N |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGACTCTGCCTTCTCCGG -3'
(R):5'- CAAAGCTACTGCCTGACATTTAC -3'
Sequencing Primer
(F):5'- CCGGCAGCCATCTTTCC -3'
(R):5'- AGTTCCTCTGGACCAATACTGTGAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation