Incidental Mutation 'R8849:Cep95'
| ID |
674894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep95
|
| Ensembl Gene |
ENSMUSG00000018372 |
| Gene Name |
centrosomal protein 95 |
| Synonyms |
4732496G21Rik, Ccdc45, F630025I20Rik |
| MMRRC Submission |
068672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R8849 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106679466-106709687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106707630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 691
(M691K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018516]
[ENSMUST00000103067]
[ENSMUST00000103068]
[ENSMUST00000124898]
|
| AlphaFold |
Q8BVV7 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: M691K
| 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: ENSMUST00000103067
|
| SMART Domains |
Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
13 |
103 |
1e-6 |
SMART |
|
WW
|
145 |
177 |
1.96e-11 |
SMART |
|
WW
|
239 |
271 |
2.47e-8 |
SMART |
|
WW
|
285 |
317 |
4.97e-13 |
SMART |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
HECTc
|
399 |
735 |
1.75e-165 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103068
AA Change: M648K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: M648K
| 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 |
|
| Meta Mutation Damage Score |
0.1449 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
G |
A |
16: 14,439,376 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,669,324 (GRCm39) |
T2411A |
probably benign |
Het |
| Aldh5a1 |
T |
A |
13: 25,121,464 (GRCm39) |
T30S |
probably benign |
Het |
| Alg1 |
G |
A |
16: 5,051,532 (GRCm39) |
A7T |
possibly damaging |
Het |
| Ano10 |
T |
A |
9: 122,090,510 (GRCm39) |
M268L |
probably benign |
Het |
| Avil |
T |
C |
10: 126,844,661 (GRCm39) |
V264A |
possibly damaging |
Het |
| Bicc1 |
T |
A |
10: 70,782,694 (GRCm39) |
I558F |
probably benign |
Het |
| Bst1 |
A |
T |
5: 43,977,927 (GRCm39) |
H92L |
possibly damaging |
Het |
| C1s2 |
T |
C |
6: 124,602,754 (GRCm39) |
N486D |
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,734,627 (GRCm39) |
H452L |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,288,537 (GRCm39) |
D233E |
probably benign |
Het |
| Ceacam18 |
G |
T |
7: 43,294,967 (GRCm39) |
L342F |
probably benign |
Het |
| Cfap221 |
G |
A |
1: 119,922,874 (GRCm39) |
P23S |
probably damaging |
Het |
| Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
| Col20a1 |
T |
C |
2: 180,640,432 (GRCm39) |
Y572H |
probably damaging |
Het |
| Cr2 |
C |
T |
1: 194,839,547 (GRCm39) |
V627M |
probably damaging |
Het |
| Cul2 |
T |
A |
18: 3,423,551 (GRCm39) |
H320Q |
probably benign |
Het |
| Ddx5 |
A |
T |
11: 106,675,975 (GRCm39) |
V266E |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,846,365 (GRCm39) |
V336A |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,121,156 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
C |
A |
7: 105,370,723 (GRCm39) |
Q4668K |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,904,986 (GRCm39) |
E630K |
|
Het |
| Dolk |
T |
C |
2: 30,174,935 (GRCm39) |
E370G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,291,565 (GRCm39) |
L1003Q |
probably damaging |
Het |
| Foxc1 |
T |
C |
13: 31,992,817 (GRCm39) |
S543P |
unknown |
Het |
| Gbp2b |
A |
C |
3: 142,313,913 (GRCm39) |
M398L |
probably benign |
Het |
| Gigyf2 |
G |
T |
1: 87,361,592 (GRCm39) |
R908L |
unknown |
Het |
| Gpr176 |
T |
A |
2: 118,110,095 (GRCm39) |
E388V |
probably damaging |
Het |
| Gpx8 |
C |
T |
13: 113,179,704 (GRCm39) |
G199E |
probably benign |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
| Ifi208 |
G |
A |
1: 173,506,184 (GRCm39) |
|
probably benign |
Het |
| Itgad |
T |
A |
7: 127,789,157 (GRCm39) |
|
probably benign |
Het |
| Kif20b |
C |
T |
19: 34,915,716 (GRCm39) |
Q498* |
probably null |
Het |
| Lmo7 |
T |
C |
14: 102,163,543 (GRCm39) |
Y1463H |
unknown |
Het |
| Mms19 |
A |
T |
19: 41,952,767 (GRCm39) |
L114Q |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,094,986 (GRCm39) |
V601A |
possibly damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,407,447 (GRCm39) |
M87L |
probably benign |
Het |
| Nhlrc2 |
T |
C |
19: 56,580,184 (GRCm39) |
V439A |
possibly damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,179,038 (GRCm39) |
H124L |
probably damaging |
Het |
| Opn4 |
A |
G |
14: 34,318,986 (GRCm39) |
W200R |
probably damaging |
Het |
| Or2b2b |
T |
C |
13: 21,858,226 (GRCm39) |
E296G |
possibly damaging |
Het |
| Pax2 |
T |
C |
19: 44,749,111 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
G |
T |
2: 156,118,440 (GRCm39) |
Q381H |
probably damaging |
Het |
| Pramel25 |
A |
G |
4: 143,521,596 (GRCm39) |
N404S |
probably damaging |
Het |
| Pramel32 |
T |
A |
4: 88,546,014 (GRCm39) |
T443S |
probably benign |
Het |
| Pramel34 |
A |
T |
5: 93,784,197 (GRCm39) |
H422Q |
probably benign |
Het |
| Rb1 |
C |
T |
14: 73,434,709 (GRCm39) |
R903Q |
probably damaging |
Het |
| Scamp4 |
T |
A |
10: 80,445,266 (GRCm39) |
V37E |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,302,673 (GRCm39) |
W733R |
probably damaging |
Het |
| Sertm1 |
A |
G |
3: 54,806,749 (GRCm39) |
V92A |
possibly damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,250,180 (GRCm39) |
F638L |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,159,171 (GRCm39) |
S703P |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,272,656 (GRCm39) |
M570K |
probably benign |
Het |
| Zfp433 |
T |
C |
10: 81,556,875 (GRCm39) |
I459T |
probably benign |
Het |
| Zfp697 |
A |
G |
3: 98,334,943 (GRCm39) |
E236G |
probably benign |
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 |
|
R0583:Cep95
|
UTSW |
11 |
106,705,449 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- AAGGCGTCATTCATGGTGGG -3'
(R):5'- TGGCTGCATCTTAGGAGGAG -3'
Sequencing Primer
(F):5'- TGAATGCTCAAGCTGGCC -3'
(R):5'- CATCTTAGGAGGAGGGCCATG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation