Incidental Mutation 'R3736:Cep170b'
ID |
270135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170b
|
Ensembl Gene |
ENSMUSG00000072825 |
Gene Name |
centrosomal protein 170B |
Synonyms |
AW555464 |
MMRRC Submission |
040723-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.538)
|
Stock # |
R3736 (G1)
|
Quality Score |
108 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
112687950-112713026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 112707438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 395
(I395F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092279]
[ENSMUST00000101018]
[ENSMUST00000179041]
[ENSMUST00000220627]
[ENSMUST00000222711]
|
AlphaFold |
Q80U49 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092279
AA Change: I395F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089930 Gene: ENSMUSG00000072825 AA Change: I395F
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
4.65e-10 |
SMART |
Pfam:CEP170_C
|
204 |
598 |
8.9e-174 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101018
AA Change: I1311F
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098580 Gene: ENSMUSG00000072825 AA Change: I1311F
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
4.65e-10 |
SMART |
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
low complexity region
|
535 |
548 |
N/A |
INTRINSIC |
low complexity region
|
676 |
690 |
N/A |
INTRINSIC |
low complexity region
|
739 |
757 |
N/A |
INTRINSIC |
Pfam:CEP170_C
|
831 |
1514 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179041
AA Change: I1311F
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137331 Gene: ENSMUSG00000072825 AA Change: I1311F
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
4.65e-10 |
SMART |
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
low complexity region
|
535 |
548 |
N/A |
INTRINSIC |
low complexity region
|
676 |
690 |
N/A |
INTRINSIC |
low complexity region
|
739 |
757 |
N/A |
INTRINSIC |
Pfam:CEP170_C
|
832 |
1510 |
4.3e-303 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220627
AA Change: I1276F
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221125
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221853
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222532
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222711
AA Change: I1311F
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223104
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222612
|
Meta Mutation Damage Score |
0.1420 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
A |
7: 29,273,996 (GRCm39) |
|
noncoding transcript |
Het |
Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,768,497 (GRCm39) |
K686R |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,021,903 (GRCm39) |
E307G |
probably benign |
Het |
Ang2 |
G |
A |
14: 51,433,113 (GRCm39) |
R90* |
probably null |
Het |
Ankrd11 |
A |
T |
8: 123,618,524 (GRCm39) |
V1776D |
probably damaging |
Het |
Atp12a |
G |
A |
14: 56,611,884 (GRCm39) |
V353I |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,661,819 (GRCm39) |
Y127H |
possibly damaging |
Het |
C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
Ccdc158 |
A |
C |
5: 92,780,283 (GRCm39) |
L930R |
possibly damaging |
Het |
Ccdc162 |
T |
C |
10: 41,465,564 (GRCm39) |
|
probably null |
Het |
Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
Clcn3 |
T |
A |
8: 61,436,686 (GRCm39) |
|
probably benign |
Het |
Ctps1 |
T |
C |
4: 120,400,943 (GRCm39) |
T459A |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,332,836 (GRCm39) |
R503S |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
Evi5 |
A |
T |
5: 107,966,849 (GRCm39) |
V224D |
probably damaging |
Het |
F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
Irag1 |
A |
G |
7: 110,523,170 (GRCm39) |
V297A |
probably benign |
Het |
Irag2 |
G |
A |
6: 145,106,596 (GRCm39) |
|
probably benign |
Het |
Kcnk10 |
A |
G |
12: 98,456,171 (GRCm39) |
V203A |
probably benign |
Het |
Lef1 |
C |
T |
3: 130,984,715 (GRCm39) |
P160S |
possibly damaging |
Het |
Lyn |
G |
T |
4: 3,745,330 (GRCm39) |
W78C |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
Mogs |
C |
A |
6: 83,093,757 (GRCm39) |
T242K |
possibly damaging |
Het |
Morc3 |
T |
A |
16: 93,671,700 (GRCm39) |
V910E |
probably damaging |
Het |
Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,027,320 (GRCm39) |
Y234C |
probably damaging |
Het |
Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
Or5p76 |
A |
G |
7: 108,122,626 (GRCm39) |
V177A |
possibly damaging |
Het |
Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,631,427 (GRCm39) |
F1161I |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,533,324 (GRCm39) |
S151G |
probably damaging |
Het |
Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
Shtn1 |
A |
T |
19: 59,010,700 (GRCm39) |
S256T |
probably benign |
Het |
Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
Suclg2 |
T |
A |
6: 95,474,677 (GRCm39) |
I363F |
probably damaging |
Het |
Tas2r134 |
C |
A |
2: 51,517,786 (GRCm39) |
N88K |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 56,005,189 (GRCm39) |
Y815H |
probably damaging |
Het |
Tnrc6b |
G |
C |
15: 80,773,364 (GRCm39) |
|
probably benign |
Het |
Vti1a |
T |
A |
19: 55,369,364 (GRCm39) |
|
probably null |
Het |
Zfp273 |
T |
A |
13: 67,973,626 (GRCm39) |
C251* |
probably null |
Het |
Zfp683 |
C |
A |
4: 133,784,742 (GRCm39) |
Q330K |
probably benign |
Het |
Zfpm1 |
G |
A |
8: 123,050,475 (GRCm39) |
C117Y |
possibly damaging |
Het |
Zscan4d |
T |
C |
7: 10,896,803 (GRCm39) |
N189S |
probably benign |
Het |
|
Other mutations in Cep170b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00435:Cep170b
|
APN |
12 |
112,701,628 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01313:Cep170b
|
APN |
12 |
112,702,086 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01317:Cep170b
|
APN |
12 |
112,704,078 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01660:Cep170b
|
APN |
12 |
112,710,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02032:Cep170b
|
APN |
12 |
112,703,767 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02505:Cep170b
|
APN |
12 |
112,709,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02966:Cep170b
|
APN |
12 |
112,702,878 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03111:Cep170b
|
APN |
12 |
112,701,613 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03367:Cep170b
|
APN |
12 |
112,703,672 (GRCm39) |
missense |
probably benign |
0.00 |
R0348:Cep170b
|
UTSW |
12 |
112,703,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R0562:Cep170b
|
UTSW |
12 |
112,705,623 (GRCm39) |
missense |
probably benign |
0.00 |
R0909:Cep170b
|
UTSW |
12 |
112,698,473 (GRCm39) |
missense |
probably null |
0.06 |
R1217:Cep170b
|
UTSW |
12 |
112,707,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R1300:Cep170b
|
UTSW |
12 |
112,703,691 (GRCm39) |
missense |
probably benign |
0.02 |
R1647:Cep170b
|
UTSW |
12 |
112,702,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R1648:Cep170b
|
UTSW |
12 |
112,702,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R1652:Cep170b
|
UTSW |
12 |
112,699,947 (GRCm39) |
missense |
probably damaging |
0.99 |
R1737:Cep170b
|
UTSW |
12 |
112,703,061 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1936:Cep170b
|
UTSW |
12 |
112,702,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Cep170b
|
UTSW |
12 |
112,704,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R2094:Cep170b
|
UTSW |
12 |
112,702,164 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2208:Cep170b
|
UTSW |
12 |
112,705,419 (GRCm39) |
missense |
probably benign |
0.00 |
R3418:Cep170b
|
UTSW |
12 |
112,704,902 (GRCm39) |
nonsense |
probably null |
|
R3735:Cep170b
|
UTSW |
12 |
112,707,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R4299:Cep170b
|
UTSW |
12 |
112,705,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R4577:Cep170b
|
UTSW |
12 |
112,711,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R5199:Cep170b
|
UTSW |
12 |
112,710,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R5512:Cep170b
|
UTSW |
12 |
112,699,919 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5575:Cep170b
|
UTSW |
12 |
112,702,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Cep170b
|
UTSW |
12 |
112,707,275 (GRCm39) |
missense |
probably benign |
0.35 |
R6074:Cep170b
|
UTSW |
12 |
112,710,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R6265:Cep170b
|
UTSW |
12 |
112,710,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R6371:Cep170b
|
UTSW |
12 |
112,707,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R6376:Cep170b
|
UTSW |
12 |
112,698,502 (GRCm39) |
missense |
probably damaging |
0.99 |
R7055:Cep170b
|
UTSW |
12 |
112,702,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R7137:Cep170b
|
UTSW |
12 |
112,701,601 (GRCm39) |
missense |
probably benign |
|
R7226:Cep170b
|
UTSW |
12 |
112,704,359 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7615:Cep170b
|
UTSW |
12 |
112,711,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Cep170b
|
UTSW |
12 |
112,711,234 (GRCm39) |
missense |
probably benign |
0.08 |
R8178:Cep170b
|
UTSW |
12 |
112,705,719 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8492:Cep170b
|
UTSW |
12 |
112,711,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R8838:Cep170b
|
UTSW |
12 |
112,710,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Cep170b
|
UTSW |
12 |
112,702,881 (GRCm39) |
missense |
probably benign |
|
R9573:Cep170b
|
UTSW |
12 |
112,691,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R9643:Cep170b
|
UTSW |
12 |
112,704,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Cep170b
|
UTSW |
12 |
112,701,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R9778:Cep170b
|
UTSW |
12 |
112,697,864 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9783:Cep170b
|
UTSW |
12 |
112,711,118 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cep170b
|
UTSW |
12 |
112,707,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTACACGTCCACCTCCGAG -3'
(R):5'- GCCTAGTGACTAATCCATCCATCC -3'
Sequencing Primer
(F):5'- AGGAGTATGGGTCCCACCAC -3'
(R):5'- TGGCTGTTCTAGAACGAACTCAC -3'
|
Posted On |
2015-03-18 |