Incidental Mutation 'R1188:Celf6'
| ID |
102365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celf6
|
| Ensembl Gene |
ENSMUSG00000032297 |
| Gene Name |
CUGBP, Elav-like family member 6 |
| Synonyms |
6330569O16Rik, Brunol6 |
| MMRRC Submission |
039260-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
59485200-59514575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59497961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 130
(R130L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034840]
[ENSMUST00000118164]
[ENSMUST00000118549]
[ENSMUST00000121266]
[ENSMUST00000129357]
[ENSMUST00000143916]
|
| AlphaFold |
Q7TN33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034840
AA Change: R130L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000034840
Gene: ENSMUSG00000032297
AA Change: R130L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
RRM
|
47 |
123 |
2.16e-19 |
SMART |
|
RRM
|
135 |
210 |
1.05e-17 |
SMART |
|
low complexity region
|
252 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
RRM
|
376 |
449 |
7.35e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118164
AA Change: R15L
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112403
Gene: ENSMUSG00000032297
AA Change: R15L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
95 |
1.05e-17 |
SMART |
|
low complexity region
|
137 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
238 |
N/A |
INTRINSIC |
|
RRM
|
260 |
333 |
7.35e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118549
AA Change: R130L
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112755
Gene: ENSMUSG00000032297
AA Change: R130L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
RRM
|
47 |
123 |
2.16e-19 |
SMART |
|
RRM
|
135 |
210 |
1.05e-17 |
SMART |
|
low complexity region
|
252 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
375 |
N/A |
INTRINSIC |
|
RRM
|
397 |
470 |
7.35e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121266
AA Change: R15L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113196
Gene: ENSMUSG00000032297
AA Change: R15L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
95 |
1.05e-17 |
SMART |
|
low complexity region
|
137 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
239 |
N/A |
INTRINSIC |
|
RRM
|
261 |
334 |
7.35e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129357
|
| SMART Domains |
Protein: ENSMUSP00000122167
Gene: ENSMUSG00000032297
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
RRM
|
47 |
121 |
1e-14 |
SMART |
|
low complexity region
|
138 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143916
AA Change: R130L
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118556
Gene: ENSMUSG00000032297
AA Change: R130L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
RRM
|
47 |
123 |
2.16e-19 |
SMART |
|
Pfam:RRM_1
|
136 |
177 |
1.5e-7 |
PFAM |
|
Pfam:RRM_6
|
136 |
177 |
3.7e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ultrasonic vocalization, decreased brain serotonin levels, and selective behavioral deficits including an abnormal response to novel odor. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,147,741 (GRCm39) |
Y14C |
unknown |
Het |
| Afap1l2 |
T |
C |
19: 56,913,501 (GRCm39) |
K312E |
probably damaging |
Het |
| Amigo2 |
T |
A |
15: 97,143,594 (GRCm39) |
E276V |
probably benign |
Het |
| Atf2 |
A |
G |
2: 73,675,881 (GRCm39) |
F114L |
probably damaging |
Het |
| Avpr1a |
G |
T |
10: 122,284,824 (GRCm39) |
G39C |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,788 (GRCm39) |
R468G |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,378,939 (GRCm39) |
S1296P |
probably damaging |
Het |
| Fnip2 |
C |
T |
3: 79,369,469 (GRCm39) |
R1072H |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,805,361 (GRCm39) |
C560F |
possibly damaging |
Het |
| Get3 |
A |
G |
8: 85,746,422 (GRCm39) |
I142T |
probably damaging |
Het |
| Gpr20 |
A |
C |
15: 73,567,617 (GRCm39) |
H257Q |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,909 (GRCm39) |
H297L |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,300,154 (GRCm39) |
S201N |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,921,022 (GRCm39) |
I198T |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,883,741 (GRCm39) |
Q247* |
probably null |
Het |
| Jam2 |
A |
G |
16: 84,603,755 (GRCm39) |
T81A |
probably damaging |
Het |
| Mrps26 |
G |
A |
2: 130,406,301 (GRCm39) |
E145K |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,105,486 (GRCm39) |
F1545L |
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,118 (GRCm39) |
V1074D |
possibly damaging |
Het |
| Prkag1 |
T |
A |
15: 98,712,479 (GRCm39) |
I118F |
probably damaging |
Het |
| R3hdm2 |
G |
A |
10: 127,288,624 (GRCm39) |
V91I |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,117,477 (GRCm39) |
V346A |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,311 (GRCm39) |
V129A |
possibly damaging |
Het |
| Snai3 |
T |
A |
8: 123,181,701 (GRCm39) |
Q252L |
probably damaging |
Het |
| Snx17 |
T |
C |
5: 31,353,166 (GRCm39) |
V133A |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,662,636 (GRCm39) |
S59P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,224,611 (GRCm39) |
R546C |
probably damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,689 (GRCm39) |
Q202L |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,430 (GRCm39) |
T311A |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,468,942 (GRCm39) |
D18E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,619,773 (GRCm39) |
L15965Q |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,925,670 (GRCm39) |
E1265* |
probably null |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
|
| Other mutations in Celf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02186:Celf6
|
APN |
9 |
59,510,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03172:Celf6
|
APN |
9 |
59,489,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Celf6
|
UTSW |
9 |
59,510,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0299:Celf6
|
UTSW |
9 |
59,510,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0499:Celf6
|
UTSW |
9 |
59,510,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1543:Celf6
|
UTSW |
9 |
59,511,160 (GRCm39) |
splice site |
probably benign |
|
|
R2198:Celf6
|
UTSW |
9 |
59,510,622 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2207:Celf6
|
UTSW |
9 |
59,511,610 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4460:Celf6
|
UTSW |
9 |
59,510,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6908:Celf6
|
UTSW |
9 |
59,511,106 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8788:Celf6
|
UTSW |
9 |
59,485,750 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8993:Celf6
|
UTSW |
9 |
59,510,154 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9393:Celf6
|
UTSW |
9 |
59,510,525 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9641:Celf6
|
UTSW |
9 |
59,485,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9662:Celf6
|
UTSW |
9 |
59,485,668 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCCGAGTCTAAGACAGAAGAGTG -3'
(R):5'- TGAGTCTGAATTGGAATGGCTGAGC -3'
Sequencing Primer
(F):5'- ACAGAAGAGTGTCTTTGCCC -3'
(R):5'- TTCCAGACTTCCCTGACCTA -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation