Incidental Mutation 'R1652:Cep170b'
| ID |
188809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep170b
|
| Ensembl Gene |
ENSMUSG00000072825 |
| Gene Name |
centrosomal protein 170B |
| Synonyms |
AW555464 |
| MMRRC Submission |
039688-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.601)
|
| Stock # |
R1652 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112687950-112713026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112699947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 152
(D152G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092279]
[ENSMUST00000101018]
[ENSMUST00000179041]
[ENSMUST00000220627]
[ENSMUST00000222711]
|
| AlphaFold |
Q80U49 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092279
AA Change: D152G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000089930
Gene: ENSMUSG00000072825
AA Change: D152G
| Domain | Start | End | E-Value | Type |
|---|
|
FHA
|
22 |
73 |
4.65e-10 |
SMART |
|
Pfam:CEP170_C
|
204 |
598 |
8.9e-174 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101018
AA Change: D152G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: D152G
| 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 |
possibly damaging
Transcript: ENSMUST00000179041
AA Change: D152G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: D152G
| 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: D152G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221570
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222711
AA Change: D152G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223104
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
T |
A |
14: 66,314,700 (GRCm39) |
E37V |
probably benign |
Het |
| Adamts7 |
A |
G |
9: 90,071,697 (GRCm39) |
D664G |
probably damaging |
Het |
| Adamtsl5 |
A |
G |
10: 80,178,011 (GRCm39) |
V256A |
probably benign |
Het |
| Adrb1 |
C |
T |
19: 56,711,705 (GRCm39) |
S301L |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,127,210 (GRCm39) |
Y3686C |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,123,147 (GRCm39) |
S456P |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,082,470 (GRCm39) |
Y124C |
probably damaging |
Het |
| Bdkrb1 |
A |
T |
12: 105,570,502 (GRCm39) |
T23S |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,318,230 (GRCm39) |
Y1468H |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,908 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,230,630 (GRCm39) |
R969L |
probably damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,815 (GRCm39) |
D285V |
possibly damaging |
Het |
| Ddx56 |
A |
T |
11: 6,217,679 (GRCm39) |
L14Q |
probably damaging |
Het |
| Dennd2d |
C |
A |
3: 106,394,317 (GRCm39) |
R63S |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,214,550 (GRCm39) |
L1105* |
probably null |
Het |
| Eef1e1 |
A |
T |
13: 38,840,081 (GRCm39) |
L75I |
possibly damaging |
Het |
| Eif1ad11 |
T |
A |
12: 87,993,853 (GRCm39) |
V27E |
probably benign |
Het |
| Fam76b |
A |
G |
9: 13,747,188 (GRCm39) |
S191G |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,478,215 (GRCm39) |
Y2420* |
probably null |
Het |
| Fbxw18 |
T |
A |
9: 109,519,695 (GRCm39) |
L270F |
probably benign |
Het |
| Fech |
T |
A |
18: 64,591,269 (GRCm39) |
H385L |
probably benign |
Het |
| Fkbp4 |
A |
T |
6: 128,413,637 (GRCm39) |
I2N |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,378,042 (GRCm39) |
M339K |
probably damaging |
Het |
| Gdpgp1 |
T |
A |
7: 79,889,112 (GRCm39) |
M381K |
probably benign |
Het |
| Glyctk |
C |
A |
9: 106,034,356 (GRCm39) |
V173L |
probably damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,424,567 (GRCm39) |
P393L |
probably damaging |
Het |
| Kat2a |
T |
C |
11: 100,599,437 (GRCm39) |
N517D |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,114,841 (GRCm39) |
R2330Q |
probably damaging |
Het |
| Lamc1 |
C |
T |
1: 153,125,392 (GRCm39) |
G597E |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,591,508 (GRCm39) |
S82C |
probably benign |
Het |
| Lgi3 |
T |
C |
14: 70,768,656 (GRCm39) |
F51S |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,447,245 (GRCm39) |
S2030P |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,877,201 (GRCm39) |
|
probably null |
Het |
| Mcoln2 |
C |
A |
3: 145,869,390 (GRCm39) |
R32S |
possibly damaging |
Het |
| Metap1 |
A |
T |
3: 138,168,151 (GRCm39) |
F324L |
probably damaging |
Het |
| Moxd2 |
C |
T |
6: 40,864,337 (GRCm39) |
R31H |
probably damaging |
Het |
| Ncf4 |
T |
A |
15: 78,145,234 (GRCm39) |
M274K |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,215,901 (GRCm39) |
V1747G |
probably benign |
Het |
| Or10d3 |
G |
A |
9: 39,461,591 (GRCm39) |
T192I |
probably benign |
Het |
| Or52r1c |
A |
G |
7: 102,735,013 (GRCm39) |
D91G |
probably benign |
Het |
| Or5ae1 |
T |
C |
7: 84,565,728 (GRCm39) |
V247A |
probably damaging |
Het |
| Pbx3 |
C |
T |
2: 34,114,568 (GRCm39) |
G122D |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,932,664 (GRCm39) |
F1034L |
probably benign |
Het |
| Ppp2r1a |
G |
A |
17: 21,176,236 (GRCm39) |
V153I |
probably benign |
Het |
| Prss33 |
C |
G |
17: 24,054,115 (GRCm39) |
M30I |
probably benign |
Het |
| Prss33 |
A |
T |
17: 24,054,116 (GRCm39) |
M30K |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,330,960 (GRCm39) |
S793N |
probably benign |
Het |
| Rab11fip5 |
C |
T |
6: 85,325,279 (GRCm39) |
V343M |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,696,522 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,363,090 (GRCm39) |
P52Q |
probably damaging |
Het |
| Scpep1 |
G |
T |
11: 88,843,260 (GRCm39) |
S66* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Shc3 |
A |
T |
13: 51,626,875 (GRCm39) |
H129Q |
probably damaging |
Het |
| Slc22a20 |
A |
T |
19: 6,022,970 (GRCm39) |
M391K |
probably damaging |
Het |
| Smurf1 |
A |
T |
5: 144,817,474 (GRCm39) |
I712K |
probably damaging |
Het |
| Snx25 |
T |
A |
8: 46,502,510 (GRCm39) |
I629L |
probably damaging |
Het |
| Supt16 |
A |
C |
14: 52,414,637 (GRCm39) |
V425G |
probably benign |
Het |
| Tnik |
G |
A |
3: 28,658,442 (GRCm39) |
V576I |
probably benign |
Het |
| Trcg1 |
A |
C |
9: 57,152,856 (GRCm39) |
D551A |
probably damaging |
Het |
| Ubald2 |
A |
G |
11: 116,325,178 (GRCm39) |
N15S |
probably damaging |
Het |
| Usf1 |
T |
C |
1: 171,245,317 (GRCm39) |
I243T |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,656 (GRCm39) |
I233F |
possibly damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,635 (GRCm39) |
N301S |
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,137,532 (GRCm39) |
F419L |
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 |
|
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'- TAATTAGACCACCAAGGGCGAGGC -3'
(R):5'- ACTGAGCTGTGCTGTGAACCTG -3'
Sequencing Primer
(F):5'- AGGATGACGGTCTCTAGGCTC -3'
(R):5'- CTGTGAACCTGGAGTGCAAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation