Incidental Mutation 'R0583:Cep95'
| ID |
56523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep95
|
| Ensembl Gene |
ENSMUSG00000018372 |
| Gene Name |
centrosomal protein 95 |
| Synonyms |
4732496G21Rik, Ccdc45, F630025I20Rik |
| MMRRC Submission |
038773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R0583 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106679466-106709687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106705449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 478
(V478A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018516]
[ENSMUST00000103068]
[ENSMUST00000124898]
|
| AlphaFold |
Q8BVV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018516
AA Change: V521A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: V521A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
|
coiled coil region
|
584 |
633 |
N/A |
INTRINSIC |
|
coiled coil region
|
701 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103068
AA Change: V478A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: V478A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
346 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
541 |
590 |
N/A |
INTRINSIC |
|
coiled coil region
|
658 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124898
|
| SMART Domains |
Protein: ENSMUSP00000122454
Gene: ENSMUSG00000018372
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
7 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151282
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
G |
9: 57,164,926 (GRCm39) |
S483P |
probably benign |
Het |
| 5730480H06Rik |
A |
G |
5: 48,537,470 (GRCm39) |
H169R |
probably damaging |
Het |
| Actn1 |
T |
A |
12: 80,245,803 (GRCm39) |
I127F |
probably damaging |
Het |
| Cadm3 |
T |
G |
1: 173,168,738 (GRCm39) |
T277P |
probably benign |
Het |
| Cast |
T |
C |
13: 74,861,797 (GRCm39) |
T629A |
probably damaging |
Het |
| Cblc |
C |
A |
7: 19,526,486 (GRCm39) |
C201F |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,387,398 (GRCm39) |
D375E |
possibly damaging |
Het |
| Cdk6 |
A |
G |
5: 3,523,183 (GRCm39) |
D201G |
probably damaging |
Het |
| Ciita |
T |
C |
16: 10,341,668 (GRCm39) |
|
probably null |
Het |
| Clec4e |
A |
G |
6: 123,260,653 (GRCm39) |
F135S |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,753,275 (GRCm39) |
D337G |
possibly damaging |
Het |
| Crlf3 |
A |
T |
11: 79,950,107 (GRCm39) |
H174Q |
probably damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,335,339 (GRCm39) |
F93I |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,552,374 (GRCm39) |
I271T |
probably benign |
Het |
| Duxf1 |
G |
A |
10: 58,059,210 (GRCm39) |
L515F |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Fhad1 |
C |
T |
4: 141,631,301 (GRCm39) |
M1297I |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,029,095 (GRCm39) |
V244A |
possibly damaging |
Het |
| Ikzf5 |
A |
G |
7: 130,993,514 (GRCm39) |
|
probably null |
Het |
| Ilvbl |
T |
A |
10: 78,419,101 (GRCm39) |
V450E |
probably damaging |
Het |
| Kcns3 |
T |
G |
12: 11,141,479 (GRCm39) |
N407H |
probably damaging |
Het |
| Klhl11 |
T |
C |
11: 100,355,150 (GRCm39) |
K224E |
possibly damaging |
Het |
| Klra17 |
T |
A |
6: 129,845,656 (GRCm39) |
D186V |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,389,263 (GRCm39) |
D2054G |
probably benign |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Mrgbp |
A |
G |
2: 180,226,239 (GRCm39) |
N104S |
probably benign |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
A |
7: 141,361,345 (GRCm39) |
T1552N |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,410,435 (GRCm39) |
Y1269* |
probably null |
Het |
| Myef2 |
T |
C |
2: 124,939,901 (GRCm39) |
|
probably null |
Het |
| Myg1 |
C |
T |
15: 102,246,225 (GRCm39) |
Q367* |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,531,755 (GRCm39) |
N1365S |
possibly damaging |
Het |
| Nfu1 |
T |
C |
6: 86,986,934 (GRCm39) |
C18R |
probably benign |
Het |
| Nkx2-6 |
A |
T |
14: 69,412,228 (GRCm39) |
Q132L |
probably damaging |
Het |
| Or10a3b |
C |
T |
7: 108,444,621 (GRCm39) |
A199T |
possibly damaging |
Het |
| Or8k38 |
T |
A |
2: 86,488,704 (GRCm39) |
I33F |
probably benign |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Prh1 |
A |
T |
6: 132,548,796 (GRCm39) |
Q101L |
unknown |
Het |
| Ribc2 |
A |
T |
15: 85,017,115 (GRCm39) |
|
probably null |
Het |
| Rnf19a |
C |
A |
15: 36,253,151 (GRCm39) |
R396L |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,452,923 (GRCm39) |
I105T |
probably damaging |
Het |
| Sec24b |
G |
T |
3: 129,834,960 (GRCm39) |
Y79* |
probably null |
Het |
| Tatdn2 |
A |
G |
6: 113,679,486 (GRCm39) |
E277G |
possibly damaging |
Het |
| Tex10 |
A |
C |
4: 48,451,952 (GRCm39) |
F725V |
probably damaging |
Het |
| Themis3 |
T |
C |
17: 66,866,748 (GRCm39) |
D164G |
probably benign |
Het |
| Ubxn7 |
T |
C |
16: 32,194,732 (GRCm39) |
W220R |
probably damaging |
Het |
| Usp33 |
C |
A |
3: 152,073,891 (GRCm39) |
R246S |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,897,043 (GRCm39) |
V130E |
probably benign |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,930 (GRCm39) |
P797L |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,076,262 (GRCm39) |
V340A |
probably damaging |
Het |
| Zfta |
A |
G |
19: 7,397,639 (GRCm39) |
D62G |
probably damaging |
Het |
|
| Other mutations in Cep95 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Cep95
|
APN |
11 |
106,709,043 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00988:Cep95
|
APN |
11 |
106,697,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01306:Cep95
|
APN |
11 |
106,704,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01995:Cep95
|
APN |
11 |
106,697,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Cep95
|
APN |
11 |
106,706,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
ANU23:Cep95
|
UTSW |
11 |
106,704,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0071:Cep95
|
UTSW |
11 |
106,681,554 (GRCm39) |
unclassified |
probably benign |
|
|
R0071:Cep95
|
UTSW |
11 |
106,681,554 (GRCm39) |
unclassified |
probably benign |
|
|
R0255:Cep95
|
UTSW |
11 |
106,702,097 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0427:Cep95
|
UTSW |
11 |
106,681,578 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0436:Cep95
|
UTSW |
11 |
106,709,511 (GRCm39) |
missense |
probably null |
0.98 |
|
R0831:Cep95
|
UTSW |
11 |
106,705,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1459:Cep95
|
UTSW |
11 |
106,708,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Cep95
|
UTSW |
11 |
106,690,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1627:Cep95
|
UTSW |
11 |
106,700,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Cep95
|
UTSW |
11 |
106,697,177 (GRCm39) |
nonsense |
probably null |
|
|
R1914:Cep95
|
UTSW |
11 |
106,705,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Cep95
|
UTSW |
11 |
106,705,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Cep95
|
UTSW |
11 |
106,681,554 (GRCm39) |
unclassified |
probably benign |
|
|
R2495:Cep95
|
UTSW |
11 |
106,700,108 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3157:Cep95
|
UTSW |
11 |
106,700,013 (GRCm39) |
splice site |
probably benign |
|
|
R3158:Cep95
|
UTSW |
11 |
106,700,013 (GRCm39) |
splice site |
probably benign |
|
|
R3712:Cep95
|
UTSW |
11 |
106,702,112 (GRCm39) |
nonsense |
probably null |
|
|
R3881:Cep95
|
UTSW |
11 |
106,697,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4739:Cep95
|
UTSW |
11 |
106,706,560 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4908:Cep95
|
UTSW |
11 |
106,702,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Cep95
|
UTSW |
11 |
106,707,480 (GRCm39) |
splice site |
probably null |
|
|
R5913:Cep95
|
UTSW |
11 |
106,709,335 (GRCm39) |
unclassified |
probably benign |
|
|
R5925:Cep95
|
UTSW |
11 |
106,703,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6291:Cep95
|
UTSW |
11 |
106,706,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6540:Cep95
|
UTSW |
11 |
106,692,328 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6924:Cep95
|
UTSW |
11 |
106,702,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6985:Cep95
|
UTSW |
11 |
106,709,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7156:Cep95
|
UTSW |
11 |
106,700,050 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7940:Cep95
|
UTSW |
11 |
106,686,974 (GRCm39) |
missense |
probably benign |
|
|
R8348:Cep95
|
UTSW |
11 |
106,704,593 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8509:Cep95
|
UTSW |
11 |
106,695,876 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8849:Cep95
|
UTSW |
11 |
106,707,630 (GRCm39) |
missense |
|
|
|
R9284:Cep95
|
UTSW |
11 |
106,704,624 (GRCm39) |
missense |
probably benign |
|
|
R9532:Cep95
|
UTSW |
11 |
106,687,042 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9673:Cep95
|
UTSW |
11 |
106,703,322 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0028:Cep95
|
UTSW |
11 |
106,703,236 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGGTTACTAACGTGGGGAAAGG -3'
(R):5'- GCCATCTGCTTGCTTGAAGCATC -3'
Sequencing Primer
(F):5'- GCTGGTTTGTTGGGGGAG -3'
(R):5'- GTCCAGCCCTATGGTAGTAGTAAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation