Incidental Mutation 'R6265:Cep170b'
ID |
506969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170b
|
Ensembl Gene |
ENSMUSG00000072825 |
Gene Name |
centrosomal protein 170B |
Synonyms |
AW555464 |
MMRRC Submission |
044438-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.538)
|
Stock # |
R6265 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
112687950-112713026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 112710993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 1488
(Q1488K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152451
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092279]
[ENSMUST00000101018]
[ENSMUST00000179041]
[ENSMUST00000220627]
[ENSMUST00000222711]
|
AlphaFold |
Q80U49 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092279
AA Change: Q572K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089930 Gene: ENSMUSG00000072825 AA Change: Q572K
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: Q1488K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098580 Gene: ENSMUSG00000072825 AA Change: Q1488K
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: Q1488K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137331 Gene: ENSMUSG00000072825 AA Change: Q1488K
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 |
probably damaging
Transcript: ENSMUST00000220627
AA Change: Q1453K
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
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: Q1488K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222612
|
Meta Mutation Damage Score |
0.2130 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
C |
T |
4: 137,181,986 (GRCm39) |
P47L |
probably damaging |
Het |
Acot1 |
T |
C |
12: 84,063,687 (GRCm39) |
I265T |
probably benign |
Het |
Amotl1 |
T |
C |
9: 14,482,951 (GRCm39) |
D587G |
possibly damaging |
Het |
Anks1b |
T |
G |
10: 90,777,362 (GRCm39) |
D1117E |
probably damaging |
Het |
Art4 |
T |
G |
6: 136,831,886 (GRCm39) |
N85T |
probably damaging |
Het |
Asb3 |
C |
A |
11: 31,035,143 (GRCm39) |
Q462K |
probably benign |
Het |
Atcay |
C |
T |
10: 81,049,114 (GRCm39) |
E163K |
possibly damaging |
Het |
Atp6v0e |
T |
C |
17: 26,895,507 (GRCm39) |
V20A |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,505,943 (GRCm39) |
Q520* |
probably null |
Het |
Baat |
A |
T |
4: 49,502,836 (GRCm39) |
D95E |
possibly damaging |
Het |
Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
Ccdc24 |
G |
A |
4: 117,728,374 (GRCm39) |
Q47* |
probably null |
Het |
Cldn24 |
A |
C |
8: 48,275,374 (GRCm39) |
D66A |
probably benign |
Het |
Cln5 |
C |
A |
14: 103,310,663 (GRCm39) |
T110K |
probably damaging |
Het |
Clvs2 |
C |
A |
10: 33,404,511 (GRCm39) |
S235I |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,705,060 (GRCm39) |
G730R |
unknown |
Het |
Crim1 |
C |
T |
17: 78,677,514 (GRCm39) |
P905L |
probably benign |
Het |
Cxxc4 |
T |
C |
3: 133,963,824 (GRCm39) |
V356A |
probably benign |
Het |
Dctn6 |
G |
T |
8: 34,562,057 (GRCm39) |
N93K |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 66,058,920 (GRCm39) |
A125V |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,342,577 (GRCm39) |
I1307T |
probably benign |
Het |
Dpy19l1 |
T |
A |
9: 24,343,667 (GRCm39) |
I493F |
possibly damaging |
Het |
Ebf2 |
A |
G |
14: 67,661,509 (GRCm39) |
I546V |
probably benign |
Het |
Fbll1 |
T |
C |
11: 35,688,636 (GRCm39) |
E209G |
probably damaging |
Het |
Foxj2 |
G |
A |
6: 122,805,133 (GRCm39) |
A2T |
probably damaging |
Het |
Foxs1 |
A |
T |
2: 152,774,098 (GRCm39) |
C318* |
probably null |
Het |
Gorab |
T |
C |
1: 163,214,199 (GRCm39) |
T244A |
possibly damaging |
Het |
Gtsf1l |
C |
A |
2: 162,929,583 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
C |
9: 66,279,298 (GRCm39) |
S69P |
probably benign |
Het |
Hpca |
C |
T |
4: 129,012,445 (GRCm39) |
W30* |
probably null |
Het |
Ing3 |
C |
A |
6: 21,953,813 (GRCm39) |
Q85K |
probably damaging |
Het |
Klhdc8b |
T |
C |
9: 108,325,624 (GRCm39) |
E264G |
probably damaging |
Het |
Lair1 |
T |
A |
7: 4,058,826 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
Lamtor2 |
C |
A |
3: 88,458,020 (GRCm39) |
G29* |
probably null |
Het |
Loxhd1 |
A |
T |
18: 77,449,426 (GRCm39) |
D341V |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,296,684 (GRCm39) |
D3290V |
probably damaging |
Het |
Matn2 |
A |
T |
15: 34,399,301 (GRCm39) |
D396V |
probably damaging |
Het |
Me3 |
T |
A |
7: 89,498,951 (GRCm39) |
D510E |
probably benign |
Het |
Melk |
A |
G |
4: 44,318,109 (GRCm39) |
Y170C |
probably damaging |
Het |
Mgat2 |
T |
C |
12: 69,231,567 (GRCm39) |
V47A |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,278,049 (GRCm39) |
I631T |
probably damaging |
Het |
Myo5b |
T |
A |
18: 74,710,511 (GRCm39) |
|
probably null |
Het |
Myo7b |
A |
T |
18: 32,131,203 (GRCm39) |
D521E |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,796,608 (GRCm39) |
F986I |
probably benign |
Het |
Or8k39 |
A |
G |
2: 86,563,299 (GRCm39) |
L219P |
probably damaging |
Het |
Patj |
A |
G |
4: 98,357,804 (GRCm39) |
D690G |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,184,954 (GRCm39) |
S5P |
probably damaging |
Het |
Reep4 |
A |
T |
14: 70,785,143 (GRCm39) |
S150C |
probably damaging |
Het |
Slc25a21 |
T |
C |
12: 57,243,685 (GRCm39) |
R14G |
probably benign |
Het |
Slc6a6 |
G |
C |
6: 91,731,896 (GRCm39) |
R575T |
probably damaging |
Het |
Speg |
T |
A |
1: 75,383,323 (GRCm39) |
Y886* |
probably null |
Het |
Tas2r103 |
A |
C |
6: 133,013,494 (GRCm39) |
F191V |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 53,995,266 (GRCm39) |
D145G |
probably benign |
Het |
Tex47 |
T |
A |
5: 7,355,461 (GRCm39) |
I214N |
probably damaging |
Het |
Tnnt3 |
A |
T |
7: 142,055,382 (GRCm39) |
D3V |
probably damaging |
Het |
Trdv2-1 |
T |
G |
14: 54,183,842 (GRCm39) |
S24A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,179,951 (GRCm39) |
D3377G |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,361,665 (GRCm39) |
D147V |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,446,843 (GRCm39) |
D103E |
probably benign |
Homo |
Vmn1r168 |
A |
G |
7: 23,240,961 (GRCm39) |
I273V |
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,915,915 (GRCm39) |
I176T |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,956,463 (GRCm39) |
D53V |
probably benign |
Het |
Zbtb8os |
A |
T |
4: 129,229,775 (GRCm39) |
|
probably benign |
Het |
Zfp551 |
C |
T |
7: 12,149,339 (GRCm39) |
R690Q |
probably damaging |
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 |
R3736: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 |
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'- CCTGAAGACATCCAACAAGGTG -3'
(R):5'- AAGGAGCCCTGTTTCCCATC -3'
Sequencing Primer
(F):5'- AGACCCCATCCTTGAGCCTG -3'
(R):5'- CCCATCAGTAGGTCGAGGTTCAAG -3'
|
Posted On |
2018-03-15 |