Incidental Mutation 'IGL01714:Celf1'
| ID |
104895 |
| 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: 0.839)
|
| Stock # |
IGL01714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90839552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 326
(S326P)
|
| 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: S326P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: S326P
| 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: S300P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: S300P
| 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 |
possibly damaging
Transcript: ENSMUST00000068747
AA Change: S299P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: S299P
| 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: S296P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: S296P
| 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 |
possibly damaging
Transcript: ENSMUST00000111449
AA Change: S299P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: S299P
| 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: ENSMUST00000111451
AA Change: S299P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: S299P
| 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: S326P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: S326P
| 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: ENSMUST00000177642
AA Change: S299P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: S299P
| 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: S326P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: S326P
| 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
|
| Meta Mutation Damage Score |
0.0929 |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,209,413 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,035,251 (GRCm39) |
I259N |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,623,442 (GRCm39) |
S59P |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,226,102 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,937,153 (GRCm39) |
N682S |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,151,870 (GRCm39) |
C436* |
probably null |
Het |
| Cyp2d40 |
T |
G |
15: 82,645,441 (GRCm39) |
D142A |
possibly damaging |
Het |
| Dennd2b |
A |
G |
7: 109,169,269 (GRCm39) |
S9P |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,370,149 (GRCm39) |
L4525F |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,878,870 (GRCm39) |
Y732C |
probably damaging |
Het |
| Edn1 |
A |
G |
13: 42,458,490 (GRCm39) |
N101S |
probably benign |
Het |
| Faxc |
C |
T |
4: 21,936,688 (GRCm39) |
P108S |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,679,714 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
G |
T |
19: 12,602,075 (GRCm39) |
R161L |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,796,117 (GRCm39) |
Y51N |
probably damaging |
Het |
| Id4 |
T |
G |
13: 48,415,266 (GRCm39) |
I98S |
probably damaging |
Het |
| Klf6 |
T |
C |
13: 5,916,658 (GRCm39) |
S268P |
probably benign |
Het |
| Kmt2c |
G |
T |
5: 25,518,398 (GRCm39) |
T2427N |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 34,905,496 (GRCm39) |
|
probably null |
Het |
| Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
| Mapkap1 |
T |
G |
2: 34,408,855 (GRCm39) |
V281G |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,225,410 (GRCm39) |
I1054F |
possibly damaging |
Het |
| Or8k25 |
T |
C |
2: 86,244,144 (GRCm39) |
N84S |
probably benign |
Het |
| Ppp1r9b |
C |
A |
11: 94,896,180 (GRCm39) |
T817N |
probably damaging |
Het |
| Prkd2 |
T |
A |
7: 16,597,867 (GRCm39) |
I659N |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,529,152 (GRCm39) |
|
probably benign |
Het |
| S2bpcox16 |
A |
G |
12: 81,557,664 (GRCm39) |
I47T |
probably damaging |
Het |
| Smarcd1 |
C |
T |
15: 99,610,302 (GRCm39) |
T474I |
probably damaging |
Het |
| Srd5a1 |
C |
T |
13: 69,759,181 (GRCm39) |
W62* |
probably null |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,687,523 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,277 (GRCm39) |
I18F |
probably benign |
Het |
| Xrcc5 |
A |
T |
1: 72,369,143 (GRCm39) |
K332N |
probably damaging |
Het |
|
| Other mutations in Celf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation