Incidental Mutation 'R0348:Cep170b'
ID |
36015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170b
|
Ensembl Gene |
ENSMUSG00000072825 |
Gene Name |
centrosomal protein 170B |
Synonyms |
AW555464 |
MMRRC Submission |
038555-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.538)
|
Stock # |
R0348 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
112687950-112713026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112703240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 568
(Y568H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152451
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092279]
[ENSMUST00000101018]
[ENSMUST00000179041]
[ENSMUST00000220627]
[ENSMUST00000222711]
|
AlphaFold |
Q80U49 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092279
|
SMART Domains |
Protein: ENSMUSP00000089930 Gene: ENSMUSG00000072825
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: Y568H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098580 Gene: ENSMUSG00000072825 AA Change: Y568H
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: Y568H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137331 Gene: ENSMUSG00000072825 AA Change: Y568H
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 |
noncoding transcript
Transcript: ENSMUST00000183447
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220627
AA Change: Y568H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221570
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222711
AA Change: Y568H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222532
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223104
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
T |
C |
11: 3,844,987 (GRCm39) |
D34G |
probably benign |
Het |
Adam6a |
T |
C |
12: 113,508,337 (GRCm39) |
S237P |
probably damaging |
Het |
Adamts13 |
A |
C |
2: 26,871,092 (GRCm39) |
D235A |
probably benign |
Het |
Adgb |
T |
A |
10: 10,233,623 (GRCm39) |
M1259L |
probably benign |
Het |
Apbb1 |
T |
C |
7: 105,214,510 (GRCm39) |
Q529R |
probably damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,670,888 (GRCm39) |
T96A |
possibly damaging |
Het |
Ccdc148 |
A |
T |
2: 58,894,084 (GRCm39) |
|
probably null |
Het |
Clca4b |
A |
T |
3: 144,627,741 (GRCm39) |
I410N |
probably damaging |
Het |
Cnot10 |
G |
A |
9: 114,427,838 (GRCm39) |
T592I |
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,755,771 (GRCm39) |
A173T |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,402,789 (GRCm39) |
C560* |
probably null |
Het |
Daglb |
G |
A |
5: 143,472,951 (GRCm39) |
V369I |
probably benign |
Het |
Defb19 |
G |
A |
2: 152,422,146 (GRCm39) |
L8F |
unknown |
Het |
Emcn |
G |
T |
3: 137,078,608 (GRCm39) |
E65* |
probably null |
Het |
Etl4 |
G |
T |
2: 20,782,940 (GRCm39) |
R753L |
probably damaging |
Het |
Fam151b |
T |
C |
13: 92,586,689 (GRCm39) |
Y248C |
probably benign |
Het |
Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
Gjd4 |
A |
G |
18: 9,280,964 (GRCm39) |
V38A |
possibly damaging |
Het |
Hivep1 |
T |
C |
13: 42,311,855 (GRCm39) |
V1365A |
possibly damaging |
Het |
Hivep2 |
T |
C |
10: 14,005,702 (GRCm39) |
S767P |
possibly damaging |
Het |
Hoxa6 |
T |
C |
6: 52,183,548 (GRCm39) |
T166A |
possibly damaging |
Het |
Ift80 |
G |
T |
3: 68,843,232 (GRCm39) |
L367I |
probably benign |
Het |
Igf2bp1 |
T |
C |
11: 95,859,719 (GRCm39) |
N369S |
possibly damaging |
Het |
Igsf11 |
C |
A |
16: 38,829,179 (GRCm39) |
D24E |
probably benign |
Het |
Ints5 |
C |
T |
19: 8,873,114 (GRCm39) |
L358F |
probably damaging |
Het |
Kbtbd3 |
A |
G |
9: 4,330,519 (GRCm39) |
T298A |
possibly damaging |
Het |
Kif28 |
C |
A |
1: 179,558,818 (GRCm39) |
V297F |
probably damaging |
Het |
Krt12 |
T |
C |
11: 99,308,771 (GRCm39) |
Y422C |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,043,122 (GRCm39) |
W856R |
probably damaging |
Het |
Liph |
C |
T |
16: 21,786,730 (GRCm39) |
|
probably null |
Het |
Lrig3 |
T |
A |
10: 125,849,317 (GRCm39) |
C1012* |
probably null |
Het |
Lrit1 |
A |
G |
14: 36,782,182 (GRCm39) |
E285G |
probably damaging |
Het |
Lrrc31 |
A |
G |
3: 30,743,377 (GRCm39) |
V196A |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,712,363 (GRCm39) |
T487A |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,167,424 (GRCm39) |
Y372H |
probably damaging |
Het |
Mrpl50 |
A |
T |
4: 49,514,515 (GRCm39) |
V52E |
probably damaging |
Het |
Mthfd1l |
T |
C |
10: 4,006,766 (GRCm39) |
V676A |
probably damaging |
Het |
Ncl |
C |
T |
1: 86,284,362 (GRCm39) |
D245N |
possibly damaging |
Het |
Neil1 |
A |
T |
9: 57,054,065 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
A |
G |
8: 106,818,827 (GRCm39) |
E515G |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,449,108 (GRCm39) |
E70G |
possibly damaging |
Het |
Nme3 |
A |
T |
17: 25,115,491 (GRCm39) |
I2F |
possibly damaging |
Het |
Nup210 |
G |
A |
6: 91,051,292 (GRCm39) |
H364Y |
probably benign |
Het |
Nxpe3 |
T |
A |
16: 55,686,898 (GRCm39) |
T37S |
probably benign |
Het |
Olfm1 |
T |
A |
2: 28,102,554 (GRCm39) |
M76K |
probably benign |
Het |
Pgbd5 |
A |
T |
8: 125,160,771 (GRCm39) |
V32E |
probably damaging |
Het |
Plcb4 |
T |
C |
2: 135,810,339 (GRCm39) |
M646T |
probably damaging |
Het |
Plekha7 |
G |
A |
7: 115,757,255 (GRCm39) |
P565L |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,535,374 (GRCm39) |
D213G |
probably null |
Het |
Poli |
A |
G |
18: 70,656,452 (GRCm39) |
I125T |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,721,254 (GRCm39) |
M1T |
probably null |
Het |
Psmd7 |
T |
C |
8: 108,307,523 (GRCm39) |
K320R |
unknown |
Het |
Rabggtb |
A |
G |
3: 153,615,954 (GRCm39) |
V128A |
probably damaging |
Het |
Rasa2 |
A |
T |
9: 96,454,012 (GRCm39) |
L308H |
probably damaging |
Het |
Serpina1d |
C |
T |
12: 103,730,034 (GRCm39) |
V383M |
probably benign |
Het |
Sipa1l1 |
T |
C |
12: 82,431,530 (GRCm39) |
|
probably null |
Het |
Sos1 |
T |
C |
17: 80,715,740 (GRCm39) |
T1006A |
probably benign |
Het |
Sugp1 |
T |
A |
8: 70,522,658 (GRCm39) |
Y453N |
probably damaging |
Het |
Taf3 |
A |
T |
2: 10,047,455 (GRCm39) |
D64E |
probably benign |
Het |
Tcf19 |
A |
T |
17: 35,826,801 (GRCm39) |
|
probably null |
Het |
Trim60 |
T |
A |
8: 65,453,868 (GRCm39) |
H127L |
probably damaging |
Het |
Tubb4a |
C |
T |
17: 57,387,770 (GRCm39) |
V419M |
probably damaging |
Het |
Vmn2r22 |
G |
T |
6: 123,614,684 (GRCm39) |
T302K |
probably damaging |
Het |
Vmn2r68 |
T |
G |
7: 84,870,884 (GRCm39) |
T800P |
possibly damaging |
Het |
Zfhx2 |
A |
C |
14: 55,300,965 (GRCm39) |
V2262G |
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 |
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 |
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'- AGGAGCGACTGGGCAATACTTCTC -3'
(R):5'- GCTGGACCAGACACATGACTTGAC -3'
Sequencing Primer
(F):5'- AGGACTTCATGGCCCAGTG -3'
(R):5'- TGACTTGACAGCGACAGAC -3'
|
Posted On |
2013-05-09 |