Incidental Mutation 'R8299:Cep70'
| ID |
639139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep70
|
| Ensembl Gene |
ENSMUSG00000056267 |
| Gene Name |
centrosomal protein 70 |
| Synonyms |
C030018L16Rik, 6720484E09Rik |
| MMRRC Submission |
067787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R8299 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99125420-99182457 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99144914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 87
(M87L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093795]
[ENSMUST00000185799]
[ENSMUST00000190078]
[ENSMUST00000190715]
[ENSMUST00000191014]
[ENSMUST00000191335]
|
| AlphaFold |
Q6IQY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093795
AA Change: M87L
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091312
Gene: ENSMUSG00000056267
AA Change: M87L
| 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 |
possibly damaging
Transcript: ENSMUST00000185799
AA Change: M87L
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139458
Gene: ENSMUSG00000056267
AA Change: M87L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
96 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190078
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190715
AA Change: M87L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140377
Gene: ENSMUSG00000056267
AA Change: M87L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
96 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191014
AA Change: M87L
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191335
AA Change: M87L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139816
Gene: ENSMUSG00000056267
AA Change: M87L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
C |
A |
10: 69,811,981 (GRCm39) |
P1216Q |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,599,900 (GRCm39) |
Y164H |
|
Het |
| Atp13a3 |
A |
C |
16: 30,152,619 (GRCm39) |
F1021C |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,112,852 (GRCm39) |
D1201G |
probably damaging |
Het |
| Bora |
G |
A |
14: 99,305,570 (GRCm39) |
R313Q |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,847,278 (GRCm39) |
Y444H |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,414,332 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
G |
A |
8: 113,500,324 (GRCm39) |
G539S |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,230,669 (GRCm39) |
Y471N |
possibly damaging |
Het |
| Dctn4 |
T |
A |
18: 60,678,872 (GRCm39) |
I197N |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,060,936 (GRCm39) |
L163P |
probably damaging |
Het |
| Elovl2 |
T |
C |
13: 41,345,396 (GRCm39) |
N101D |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,874 (GRCm39) |
I404K |
possibly damaging |
Het |
| Gadd45a |
A |
G |
6: 67,014,183 (GRCm39) |
|
probably null |
Het |
| Gfod2 |
T |
C |
8: 106,454,794 (GRCm39) |
T29A |
probably benign |
Het |
| Hltf |
A |
G |
3: 20,136,986 (GRCm39) |
K408E |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,546 (GRCm39) |
T362A |
probably benign |
Het |
| Klhl12 |
G |
A |
1: 134,416,678 (GRCm39) |
G467R |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,557,443 (GRCm39) |
|
probably benign |
Het |
| Mcee |
G |
A |
7: 64,061,621 (GRCm39) |
E29K |
unknown |
Het |
| Mki67 |
A |
T |
7: 135,306,349 (GRCm39) |
I571N |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,650,088 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,862,651 (GRCm39) |
E1426A |
possibly damaging |
Het |
| Muc4 |
A |
G |
16: 32,576,271 (GRCm39) |
T1924A |
unknown |
Het |
| Myh14 |
T |
A |
7: 44,276,472 (GRCm39) |
D1170V |
probably damaging |
Het |
| Or10al5 |
G |
T |
17: 38,062,891 (GRCm39) |
E49* |
probably null |
Het |
| Or51a6 |
T |
C |
7: 102,604,739 (GRCm39) |
E30G |
probably damaging |
Het |
| Or55b4 |
T |
C |
7: 102,133,409 (GRCm39) |
H306R |
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,829 (GRCm39) |
I34V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,408 (GRCm39) |
I66T |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,445,330 (GRCm39) |
V3734A |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,177,396 (GRCm39) |
L576P |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,663,041 (GRCm39) |
N1203Y |
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,677,327 (GRCm39) |
N84S |
probably benign |
Het |
| Prkn |
T |
G |
17: 11,456,408 (GRCm39) |
S77R |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,697,537 (GRCm39) |
S678L |
probably benign |
Het |
| Rims3 |
T |
C |
4: 120,746,569 (GRCm39) |
Y197H |
probably damaging |
Het |
| S1pr4 |
A |
G |
10: 81,335,267 (GRCm39) |
M69T |
probably benign |
Het |
| Sf3a1 |
T |
C |
11: 4,129,420 (GRCm39) |
Y757H |
possibly damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,484,248 (GRCm39) |
N128K |
probably damaging |
Het |
| Slc35a4 |
T |
C |
18: 36,815,980 (GRCm39) |
V270A |
possibly damaging |
Het |
| Speg |
A |
C |
1: 75,364,480 (GRCm39) |
D287A |
possibly damaging |
Het |
| St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
| Stk11 |
G |
T |
10: 79,963,867 (GRCm39) |
E350D |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,694,890 (GRCm39) |
L291S |
probably damaging |
Het |
| Susd1 |
C |
T |
4: 59,315,773 (GRCm39) |
V733I |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,105,502 (GRCm39) |
R173G |
probably benign |
Het |
| Tmem115 |
T |
C |
9: 107,411,745 (GRCm39) |
V23A |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,386,123 (GRCm38) |
N110D |
possibly damaging |
Het |
| Wfikkn2 |
C |
T |
11: 94,129,890 (GRCm39) |
V84M |
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 |
|
R0970:Cep70
|
UTSW |
9 |
99,157,652 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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'- AGGAGCAGATCTCAGAGGTAACTAC -3'
(R):5'- CCAAGTATAATGACATTTCAGGCTCC -3'
Sequencing Primer
(F):5'- GGTAACTACATCCTGCTGATTTG -3'
(R):5'- AGGCTCCTCTTCAGACTGTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation