Incidental Mutation 'R0970:Cep70'
ID |
84026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep70
|
Ensembl Gene |
ENSMUSG00000056267 |
Gene Name |
centrosomal protein 70 |
Synonyms |
C030018L16Rik, 6720484E09Rik |
MMRRC Submission |
039099-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
R0970 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
99125420-99182457 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99157652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 184
(K184E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093795]
[ENSMUST00000191014]
[ENSMUST00000191335]
|
AlphaFold |
Q6IQY5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093795
AA Change: K184E
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000091312 Gene: ENSMUSG00000056267 AA Change: K184E
Domain | Start | End | E-Value | Type |
coiled coil region
|
96 |
210 |
N/A |
INTRINSIC |
coiled coil region
|
278 |
299 |
N/A |
INTRINSIC |
low complexity region
|
319 |
335 |
N/A |
INTRINSIC |
low complexity region
|
528 |
544 |
N/A |
INTRINSIC |
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191014
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191335
AA Change: K184E
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139816 Gene: ENSMUSG00000056267 AA Change: K184E
Domain | Start | End | E-Value | Type |
coiled coil region
|
96 |
210 |
N/A |
INTRINSIC |
coiled coil region
|
278 |
299 |
N/A |
INTRINSIC |
low complexity region
|
319 |
335 |
N/A |
INTRINSIC |
low complexity region
|
528 |
544 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0652 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,661,364 (GRCm39) |
S307P |
probably damaging |
Het |
Amdhd2 |
C |
T |
17: 24,375,544 (GRCm39) |
|
probably null |
Het |
Ano1 |
A |
T |
7: 144,149,308 (GRCm39) |
M851K |
probably benign |
Het |
Arid3b |
A |
T |
9: 57,740,834 (GRCm39) |
|
probably benign |
Het |
Arpp21 |
A |
G |
9: 111,965,516 (GRCm39) |
|
probably benign |
Het |
Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
C87436 |
G |
A |
6: 86,424,310 (GRCm39) |
V281M |
probably damaging |
Het |
Clcn7 |
T |
C |
17: 25,370,208 (GRCm39) |
|
probably null |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col4a2 |
A |
G |
8: 11,465,438 (GRCm39) |
T383A |
probably benign |
Het |
Commd5 |
A |
T |
15: 76,784,885 (GRCm39) |
|
probably null |
Het |
Cyp4b1 |
G |
A |
4: 115,492,833 (GRCm39) |
A292V |
probably benign |
Het |
Dthd1 |
T |
C |
5: 63,045,324 (GRCm39) |
L696P |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,514,722 (GRCm39) |
R510G |
probably damaging |
Het |
Eno3 |
T |
C |
11: 70,551,628 (GRCm39) |
I196T |
probably damaging |
Het |
Eva1a |
A |
G |
6: 82,069,084 (GRCm39) |
E137G |
probably damaging |
Het |
Gapvd1 |
T |
A |
2: 34,620,625 (GRCm39) |
|
probably null |
Het |
Ggnbp2 |
T |
C |
11: 84,753,138 (GRCm39) |
M34V |
possibly damaging |
Het |
Gpihbp1 |
G |
A |
15: 75,469,795 (GRCm39) |
S170N |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,942,092 (GRCm39) |
S528P |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,613,372 (GRCm39) |
Q832L |
probably benign |
Het |
Nav2 |
C |
A |
7: 49,233,901 (GRCm39) |
P1861Q |
probably damaging |
Het |
Or52n5 |
A |
C |
7: 104,588,284 (GRCm39) |
M184L |
probably benign |
Het |
Piezo1 |
A |
T |
8: 123,213,549 (GRCm39) |
I1782N |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,304,983 (GRCm39) |
S1757T |
probably damaging |
Het |
Plxnb1 |
G |
T |
9: 108,932,331 (GRCm39) |
W523C |
probably damaging |
Het |
Pmm2 |
G |
T |
16: 8,460,640 (GRCm39) |
L31F |
probably damaging |
Het |
Ppm1f |
T |
C |
16: 16,721,457 (GRCm39) |
|
probably null |
Het |
Prss16 |
T |
C |
13: 22,189,287 (GRCm39) |
Y34C |
probably damaging |
Het |
Slc10a2 |
C |
G |
8: 5,155,115 (GRCm39) |
E23D |
probably benign |
Het |
Smc5 |
T |
A |
19: 23,216,362 (GRCm39) |
I489F |
probably damaging |
Het |
Snx2 |
T |
C |
18: 53,343,762 (GRCm39) |
|
probably benign |
Het |
Stradb |
C |
T |
1: 59,016,219 (GRCm39) |
L3F |
possibly damaging |
Het |
Tnxb |
C |
G |
17: 34,917,917 (GRCm39) |
P2277A |
possibly damaging |
Het |
Tpm2 |
T |
A |
4: 43,515,968 (GRCm39) |
I270F |
probably benign |
Het |
Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,566,335 (GRCm39) |
L1484Q |
possibly damaging |
Het |
Xylt1 |
G |
A |
7: 117,233,963 (GRCm39) |
V497I |
probably damaging |
Het |
|
Other mutations in Cep70 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01445:Cep70
|
APN |
9 |
99,180,553 (GRCm39) |
unclassified |
probably benign |
|
IGL02719:Cep70
|
APN |
9 |
99,157,775 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02878:Cep70
|
APN |
9 |
99,163,160 (GRCm39) |
splice site |
probably benign |
|
IGL02969:Cep70
|
APN |
9 |
99,180,557 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0426:Cep70
|
UTSW |
9 |
99,179,737 (GRCm39) |
missense |
probably benign |
0.02 |
R1238:Cep70
|
UTSW |
9 |
99,136,318 (GRCm39) |
missense |
probably benign |
0.05 |
R1462:Cep70
|
UTSW |
9 |
99,145,773 (GRCm39) |
missense |
probably benign |
0.20 |
R1462:Cep70
|
UTSW |
9 |
99,145,773 (GRCm39) |
missense |
probably benign |
0.20 |
R2141:Cep70
|
UTSW |
9 |
99,178,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R3922:Cep70
|
UTSW |
9 |
99,157,632 (GRCm39) |
makesense |
probably null |
|
R3964:Cep70
|
UTSW |
9 |
99,180,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R3965:Cep70
|
UTSW |
9 |
99,180,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R4044:Cep70
|
UTSW |
9 |
99,144,662 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4174:Cep70
|
UTSW |
9 |
99,128,366 (GRCm39) |
start gained |
probably benign |
|
R4659:Cep70
|
UTSW |
9 |
99,178,394 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4672:Cep70
|
UTSW |
9 |
99,136,365 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4839:Cep70
|
UTSW |
9 |
99,178,138 (GRCm39) |
missense |
probably benign |
0.16 |
R5108:Cep70
|
UTSW |
9 |
99,145,865 (GRCm39) |
splice site |
probably null |
|
R5288:Cep70
|
UTSW |
9 |
99,163,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Cep70
|
UTSW |
9 |
99,163,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R5802:Cep70
|
UTSW |
9 |
99,178,458 (GRCm39) |
missense |
probably damaging |
0.96 |
R5934:Cep70
|
UTSW |
9 |
99,136,318 (GRCm39) |
missense |
probably benign |
0.05 |
R6076:Cep70
|
UTSW |
9 |
99,180,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R6848:Cep70
|
UTSW |
9 |
99,144,954 (GRCm39) |
missense |
probably benign |
0.34 |
R6977:Cep70
|
UTSW |
9 |
99,173,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R7286:Cep70
|
UTSW |
9 |
99,157,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R7437:Cep70
|
UTSW |
9 |
99,173,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Cep70
|
UTSW |
9 |
99,163,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R7879:Cep70
|
UTSW |
9 |
99,144,686 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8063:Cep70
|
UTSW |
9 |
99,178,175 (GRCm39) |
missense |
probably benign |
0.02 |
R8299:Cep70
|
UTSW |
9 |
99,144,914 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8466:Cep70
|
UTSW |
9 |
99,160,073 (GRCm39) |
critical splice donor site |
probably null |
|
R8684:Cep70
|
UTSW |
9 |
99,145,842 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9017:Cep70
|
UTSW |
9 |
99,181,829 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAAGCCAGCCTGGACTACAT -3'
(R):5'- TGTTTATCCAAGACTGAGTGAGGGACT -3'
Sequencing Primer
(F):5'- caccagtagagggcatcag -3'
(R):5'- AGACTGAGTGAGGGACTCTTCTG -3'
|
Posted On |
2013-11-08 |