Incidental Mutation 'R9164:Celf1'
| ID |
695892 |
| 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 |
068944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R9164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90831426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 85
(L85H)
|
| 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: L112H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: L112H
| 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: L85H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: L85H
| 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: L85H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: L85H
| 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: L85H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: L85H
| 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: L85H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: L85H
| 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: L85H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: L85H
| 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: L112H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: L112H
| 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: ENSMUST00000177642
AA Change: L85H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: L85H
| 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: L112H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: L112H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| 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 |
|---|
| Abca13 |
A |
C |
11: 9,278,157 (GRCm39) |
E3112D |
probably damaging |
Het |
| Abtb2 |
C |
T |
2: 103,541,829 (GRCm39) |
T847I |
possibly damaging |
Het |
| Acox1 |
A |
T |
11: 116,089,173 (GRCm39) |
H48Q |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,486,795 (GRCm39) |
I161T |
possibly damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,511,204 (GRCm39) |
Y388H |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,041,090 (GRCm39) |
K593* |
probably null |
Het |
| Bicc1 |
G |
A |
10: 70,781,094 (GRCm39) |
T661M |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,580,766 (GRCm39) |
|
probably null |
Het |
| Cep120 |
A |
T |
18: 53,852,318 (GRCm39) |
M520K |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,155,960 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Chd1l |
C |
T |
3: 97,501,356 (GRCm39) |
R230H |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 38,995,571 (GRCm39) |
K28* |
probably null |
Het |
| D930048N14Rik |
A |
T |
11: 51,545,609 (GRCm39) |
H167L |
unknown |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,754,337 (GRCm39) |
I442N |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,180,308 (GRCm39) |
C1960R |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,936,324 (GRCm39) |
S2G |
unknown |
Het |
| Gm37240 |
T |
C |
3: 84,417,248 (GRCm39) |
N157S |
possibly damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,283 (GRCm39) |
I350V |
unknown |
Het |
| Gtf3c4 |
A |
G |
2: 28,724,661 (GRCm39) |
V357A |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,396,106 (GRCm39) |
I377V |
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,660,689 (GRCm39) |
D28G |
probably benign |
Het |
| Intu |
A |
T |
3: 40,645,133 (GRCm39) |
D508V |
probably damaging |
Het |
| Kif28 |
A |
T |
1: 179,533,333 (GRCm39) |
M604K |
probably damaging |
Het |
| Klra6 |
T |
A |
6: 129,993,687 (GRCm39) |
I195F |
possibly damaging |
Het |
| Lhfpl6 |
G |
A |
3: 52,950,887 (GRCm39) |
V54I |
probably benign |
Het |
| Lrpap1 |
T |
C |
5: 35,262,923 (GRCm39) |
Y38C |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,562,351 (GRCm39) |
Q2453L |
unknown |
Het |
| Map1b |
C |
A |
13: 99,568,816 (GRCm39) |
E1302* |
probably null |
Het |
| Map7 |
C |
T |
10: 20,122,410 (GRCm39) |
R159C |
probably benign |
Het |
| Mov10l1 |
C |
T |
15: 88,896,361 (GRCm39) |
T735I |
probably benign |
Het |
| Nfasc |
C |
A |
1: 132,562,544 (GRCm39) |
R77L |
probably damaging |
Het |
| Nipsnap1 |
T |
C |
11: 4,839,969 (GRCm39) |
V230A |
probably benign |
Het |
| Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,954 (GRCm39) |
M277K |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,504 (GRCm39) |
N137I |
possibly damaging |
Het |
| Orm3 |
T |
C |
4: 63,274,809 (GRCm39) |
L39P |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,631,852 (GRCm39) |
V549E |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,731,699 (GRCm39) |
S274R |
|
Het |
| Phactr1 |
A |
G |
13: 42,836,178 (GRCm39) |
D2G |
possibly damaging |
Het |
| Phtf2 |
G |
A |
5: 21,008,190 (GRCm39) |
R164* |
probably null |
Het |
| Prkcq |
A |
G |
2: 11,231,716 (GRCm39) |
D13G |
probably damaging |
Het |
| Proser1 |
A |
T |
3: 53,379,494 (GRCm39) |
N156I |
probably benign |
Het |
| Prss51 |
T |
C |
14: 64,334,958 (GRCm39) |
I171T |
probably damaging |
Het |
| Ptbp2 |
G |
A |
3: 119,546,640 (GRCm39) |
P81S |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,404,222 (GRCm39) |
D681G |
possibly damaging |
Het |
| Rigi |
T |
A |
4: 40,208,827 (GRCm39) |
M762L |
probably damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,564,360 (GRCm39) |
I349F |
probably damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,235,312 (GRCm39) |
T240K |
possibly damaging |
Het |
| Sowahc |
C |
A |
10: 59,057,897 (GRCm39) |
A11E |
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,216,399 (GRCm39) |
Y526F |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,084,626 (GRCm39) |
H526R |
probably benign |
Het |
| Stx1b |
T |
C |
7: 127,414,159 (GRCm39) |
K69R |
probably benign |
Het |
| Tal1 |
T |
C |
4: 114,920,646 (GRCm39) |
S107P |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,606,975 (GRCm39) |
I273M |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 87,980,295 (GRCm39) |
Y135* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,583,856 (GRCm39) |
P22384S |
probably damaging |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,087 (GRCm39) |
T610P |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,669 (GRCm39) |
*850C |
probably null |
Het |
| Vwf |
T |
A |
6: 125,542,806 (GRCm39) |
I94N |
|
Het |
| Zan |
A |
T |
5: 137,422,333 (GRCm39) |
S2762T |
unknown |
Het |
| Zbtb20 |
A |
G |
16: 43,430,764 (GRCm39) |
Q352R |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,259,374 (GRCm39) |
Y1649H |
probably benign |
Het |
| Zfp397 |
A |
T |
18: 24,089,828 (GRCm39) |
Q111L |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,975,825 (GRCm39) |
I698N |
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 |
|
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 |
|
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'- TCCCTCAGTTTTAGTAAGCTCG -3'
(R):5'- TACAGAAAACTCTTGGCAGCAAG -3'
Sequencing Primer
(F):5'- CCTCAGTTTTAGTAAGCTCGTTCAGG -3'
(R):5'- GGCAGCAAGAACTACTTTTGGTCTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation