Incidental Mutation 'R0436:Cep95'
| ID |
39021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep95
|
| Ensembl Gene |
ENSMUSG00000018372 |
| Gene Name |
centrosomal protein 95 |
| Synonyms |
F630025I20Rik, Ccdc45, 4732496G21Rik |
| MMRRC Submission |
038637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R0436 (G1)
|
| Quality Score |
101 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106789252-106819930 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106818685 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 109
(Q109R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018516]
[ENSMUST00000092517]
[ENSMUST00000103067]
[ENSMUST00000103068]
[ENSMUST00000124898]
[ENSMUST00000139297]
[ENSMUST00000167787]
|
| AlphaFold |
Q8BVV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018516
AA Change: Q815R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: Q815R
| 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: ENSMUST00000092517
|
| SMART Domains |
Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
13 |
116 |
1.51e-15 |
SMART |
|
WW
|
158 |
190 |
1.96e-11 |
SMART |
|
WW
|
252 |
284 |
2.47e-8 |
SMART |
|
WW
|
298 |
330 |
4.97e-13 |
SMART |
|
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
HECTc
|
412 |
748 |
1.75e-165 |
SMART |
|
| 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: Q772R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: Q772R
| 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 null
Transcript: ENSMUST00000124898
AA Change: Q109R
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122454
Gene: ENSMUSG00000018372
AA Change: Q109R
| 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 |
probably benign
Transcript: ENSMUST00000139297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151282
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167787
|
| SMART Domains |
Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
13 |
116 |
1.51e-15 |
SMART |
|
WW
|
158 |
190 |
1.96e-11 |
SMART |
|
WW
|
252 |
284 |
2.47e-8 |
SMART |
|
WW
|
298 |
330 |
4.97e-13 |
SMART |
|
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
HECTc
|
412 |
748 |
1.75e-165 |
SMART |
|
| Meta Mutation Damage Score |
0.2521 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,543,445 (GRCm38) |
|
probably benign |
Het |
| Abcb10 |
C |
T |
8: 123,971,001 (GRCm38) |
G195S |
probably benign |
Het |
| Adrb2 |
A |
G |
18: 62,179,553 (GRCm38) |
V67A |
possibly damaging |
Het |
| Alx4 |
A |
T |
2: 93,668,357 (GRCm38) |
K145* |
probably null |
Het |
| Arl8a |
G |
A |
1: 135,146,980 (GRCm38) |
M1I |
probably null |
Het |
| B230118H07Rik |
T |
C |
2: 101,610,519 (GRCm38) |
|
probably benign |
Het |
| Btbd16 |
G |
A |
7: 130,786,053 (GRCm38) |
S134N |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,414,934 (GRCm38) |
L474Q |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 78,935,650 (GRCm38) |
Y192H |
probably benign |
Het |
| Cfap54 |
G |
T |
10: 93,038,975 (GRCm38) |
Q520K |
possibly damaging |
Het |
| Cog2 |
C |
T |
8: 124,548,514 (GRCm38) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,523,773 (GRCm38) |
N702S |
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 104,167,950 (GRCm38) |
P1836R |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,383,750 (GRCm38) |
D2472G |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,150,095 (GRCm38) |
F22L |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 120,102,341 (GRCm38) |
D201E |
probably damaging |
Het |
| Eif4ebp3 |
A |
G |
18: 36,664,301 (GRCm38) |
|
probably null |
Het |
| Exd2 |
T |
C |
12: 80,490,770 (GRCm38) |
|
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,568,273 (GRCm38) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,159,656 (GRCm38) |
Y256C |
probably damaging |
Het |
| Haus6 |
T |
C |
4: 86,585,807 (GRCm38) |
R527G |
probably benign |
Het |
| Helb |
C |
T |
10: 120,094,212 (GRCm38) |
|
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,788,762 (GRCm38) |
A254T |
probably benign |
Het |
| Hk1 |
A |
T |
10: 62,299,275 (GRCm38) |
|
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,405,612 (GRCm38) |
K2611R |
probably damaging |
Het |
| Hrc |
A |
G |
7: 45,336,133 (GRCm38) |
H236R |
possibly damaging |
Het |
| Hunk |
T |
A |
16: 90,464,154 (GRCm38) |
Y178N |
probably damaging |
Het |
| Jakmip2 |
G |
A |
18: 43,558,169 (GRCm38) |
Q616* |
probably null |
Het |
| Kcnh4 |
C |
T |
11: 100,746,932 (GRCm38) |
G633E |
probably benign |
Het |
| Msantd4 |
C |
T |
9: 4,385,180 (GRCm38) |
R302C |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 104,523,236 (GRCm38) |
|
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,970,472 (GRCm38) |
L293F |
probably damaging |
Het |
| Odf2l |
C |
T |
3: 145,126,116 (GRCm38) |
T44I |
possibly damaging |
Het |
| Olfr601 |
A |
G |
7: 103,358,741 (GRCm38) |
V151A |
possibly damaging |
Het |
| Otog |
G |
A |
7: 46,265,936 (GRCm38) |
|
probably benign |
Het |
| Ppp1r21 |
C |
T |
17: 88,565,689 (GRCm38) |
T425I |
possibly damaging |
Het |
| Prrc2b |
A |
G |
2: 32,230,660 (GRCm38) |
E2204G |
probably damaging |
Het |
| Prrc2c |
A |
C |
1: 162,705,314 (GRCm38) |
|
probably benign |
Het |
| Prrxl1 |
T |
C |
14: 32,608,083 (GRCm38) |
F81S |
probably damaging |
Het |
| Ptgs2 |
T |
C |
1: 150,104,277 (GRCm38) |
|
probably benign |
Het |
| Slc12a8 |
T |
A |
16: 33,551,085 (GRCm38) |
V197E |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,946,924 (GRCm38) |
W593R |
possibly damaging |
Het |
| Tmem63a |
A |
T |
1: 180,972,733 (GRCm38) |
T696S |
probably benign |
Het |
| Tnks2 |
A |
G |
19: 36,849,358 (GRCm38) |
D165G |
possibly damaging |
Het |
| Trim43a |
T |
C |
9: 88,588,187 (GRCm38) |
W349R |
probably damaging |
Het |
| Unc45b |
T |
C |
11: 82,929,567 (GRCm38) |
|
probably benign |
Het |
| Vmn1r4 |
T |
A |
6: 56,956,962 (GRCm38) |
N150K |
probably damaging |
Het |
| Wdfy4 |
C |
A |
14: 33,083,812 (GRCm38) |
|
probably benign |
Het |
| Wdr77 |
T |
A |
3: 105,960,026 (GRCm38) |
D63E |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,464,902 (GRCm38) |
T672A |
unknown |
Het |
| Zdhhc17 |
A |
T |
10: 110,981,990 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Cep95 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Cep95
|
APN |
11 |
106,818,217 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00988:Cep95
|
APN |
11 |
106,806,394 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01306:Cep95
|
APN |
11 |
106,813,815 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01995:Cep95
|
APN |
11 |
106,806,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02541:Cep95
|
APN |
11 |
106,815,581 (GRCm38) |
missense |
probably damaging |
0.99 |
|
ANU23:Cep95
|
UTSW |
11 |
106,813,815 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0071:Cep95
|
UTSW |
11 |
106,790,728 (GRCm38) |
unclassified |
probably benign |
|
|
R0071:Cep95
|
UTSW |
11 |
106,790,728 (GRCm38) |
unclassified |
probably benign |
|
|
R0255:Cep95
|
UTSW |
11 |
106,811,271 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0427:Cep95
|
UTSW |
11 |
106,790,752 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0583:Cep95
|
UTSW |
11 |
106,814,623 (GRCm38) |
missense |
probably benign |
|
|
R0831:Cep95
|
UTSW |
11 |
106,814,704 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1459:Cep95
|
UTSW |
11 |
106,817,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1589:Cep95
|
UTSW |
11 |
106,800,104 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1627:Cep95
|
UTSW |
11 |
106,809,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1768:Cep95
|
UTSW |
11 |
106,806,351 (GRCm38) |
nonsense |
probably null |
|
|
R1914:Cep95
|
UTSW |
11 |
106,814,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1915:Cep95
|
UTSW |
11 |
106,814,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1928:Cep95
|
UTSW |
11 |
106,790,728 (GRCm38) |
unclassified |
probably benign |
|
|
R2495:Cep95
|
UTSW |
11 |
106,809,282 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R3157:Cep95
|
UTSW |
11 |
106,809,187 (GRCm38) |
splice site |
probably benign |
|
|
R3158:Cep95
|
UTSW |
11 |
106,809,187 (GRCm38) |
splice site |
probably benign |
|
|
R3712:Cep95
|
UTSW |
11 |
106,811,286 (GRCm38) |
nonsense |
probably null |
|
|
R3881:Cep95
|
UTSW |
11 |
106,806,292 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4739:Cep95
|
UTSW |
11 |
106,815,734 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4908:Cep95
|
UTSW |
11 |
106,811,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4989:Cep95
|
UTSW |
11 |
106,816,654 (GRCm38) |
splice site |
probably null |
|
|
R5913:Cep95
|
UTSW |
11 |
106,818,509 (GRCm38) |
unclassified |
probably benign |
|
|
R5925:Cep95
|
UTSW |
11 |
106,812,401 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6291:Cep95
|
UTSW |
11 |
106,815,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6540:Cep95
|
UTSW |
11 |
106,801,502 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6924:Cep95
|
UTSW |
11 |
106,811,197 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6985:Cep95
|
UTSW |
11 |
106,818,703 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7156:Cep95
|
UTSW |
11 |
106,809,224 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7940:Cep95
|
UTSW |
11 |
106,796,148 (GRCm38) |
missense |
probably benign |
|
|
R8348:Cep95
|
UTSW |
11 |
106,813,767 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8509:Cep95
|
UTSW |
11 |
106,805,050 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8849:Cep95
|
UTSW |
11 |
106,816,804 (GRCm38) |
missense |
|
|
|
R9284:Cep95
|
UTSW |
11 |
106,813,798 (GRCm38) |
missense |
probably benign |
|
|
R9532:Cep95
|
UTSW |
11 |
106,796,216 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9673:Cep95
|
UTSW |
11 |
106,812,496 (GRCm38) |
missense |
probably benign |
0.05 |
|
X0028:Cep95
|
UTSW |
11 |
106,812,410 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTTGGAAGGGAGCCAACAAATC -3'
(R):5'- CAACATGCTTCACAAGTGGGCTG -3'
Sequencing Primer
(F):5'- GTCACAAGCTTCAGACTGACTTAG -3'
(R):5'- GCAGGACTTGCTAACAGCTTTAAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation