Incidental Mutation 'R1300:Cep170b'
ID |
158320 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170b
|
Ensembl Gene |
ENSMUSG00000072825 |
Gene Name |
centrosomal protein 170B |
Synonyms |
AW555464 |
MMRRC Submission |
039366-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.538)
|
Stock # |
R1300 (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 C
at 112703691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 622
(M622L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152143
(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 benign
Transcript: ENSMUST00000101018
AA Change: M622L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000098580 Gene: ENSMUSG00000072825 AA Change: M622L
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 benign
Transcript: ENSMUST00000179041
AA Change: M622L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000137331 Gene: ENSMUSG00000072825 AA Change: M622L
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 benign
Transcript: ENSMUST00000220627
AA Change: M622L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221570
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222532
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222711
AA Change: M622L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223104
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,283,967 (GRCm39) |
I2535T |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,079,881 (GRCm39) |
Y114* |
probably null |
Het |
Ank3 |
A |
G |
10: 69,840,495 (GRCm39) |
I952V |
probably benign |
Het |
Ankar |
A |
C |
1: 72,682,323 (GRCm39) |
V1414G |
probably benign |
Het |
Arl2 |
A |
G |
19: 6,191,103 (GRCm39) |
M10T |
probably benign |
Het |
Arpp21 |
A |
G |
9: 111,972,442 (GRCm39) |
I352T |
probably damaging |
Het |
Cacna1e |
T |
A |
1: 154,274,419 (GRCm39) |
H2162L |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,119,552 (GRCm39) |
V337A |
probably benign |
Het |
Cpn2 |
T |
A |
16: 30,078,481 (GRCm39) |
T407S |
probably benign |
Het |
Cpne4 |
T |
C |
9: 104,870,333 (GRCm39) |
W263R |
probably damaging |
Het |
Crtc1 |
A |
G |
8: 70,840,189 (GRCm39) |
|
probably null |
Het |
Cspg4b |
T |
C |
13: 113,502,694 (GRCm39) |
F133S |
probably damaging |
Het |
Dennd5a |
A |
T |
7: 109,518,614 (GRCm39) |
I485N |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,101,692 (GRCm39) |
Q1892R |
probably benign |
Het |
Dse |
G |
A |
10: 34,028,411 (GRCm39) |
A893V |
probably benign |
Het |
Dsg1a |
T |
G |
18: 20,465,206 (GRCm39) |
S466A |
probably benign |
Het |
Dstyk |
T |
C |
1: 132,377,651 (GRCm39) |
V419A |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,294,464 (GRCm39) |
V1125A |
possibly damaging |
Het |
Ep400 |
C |
A |
5: 110,821,426 (GRCm39) |
G2576C |
probably damaging |
Het |
Eps15l1 |
A |
T |
8: 73,145,746 (GRCm39) |
D162E |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 52,959,454 (GRCm39) |
T165N |
probably benign |
Het |
Gm8674 |
T |
C |
13: 50,055,758 (GRCm39) |
|
noncoding transcript |
Het |
Gtsf2 |
T |
A |
15: 103,352,780 (GRCm39) |
L39F |
possibly damaging |
Het |
Hck |
A |
C |
2: 152,976,067 (GRCm39) |
D202A |
possibly damaging |
Het |
Il12b |
T |
A |
11: 44,298,903 (GRCm39) |
|
probably null |
Het |
Irf4 |
T |
C |
13: 30,941,568 (GRCm39) |
L307P |
probably damaging |
Het |
Keg1 |
G |
A |
19: 12,696,368 (GRCm39) |
R184Q |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,610,452 (GRCm39) |
D218G |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,569,029 (GRCm39) |
K1231E |
unknown |
Het |
Mapkbp1 |
T |
C |
2: 119,844,136 (GRCm39) |
Y293H |
probably benign |
Het |
Mfsd8 |
A |
T |
3: 40,778,333 (GRCm39) |
D310E |
probably benign |
Het |
Mmp9 |
A |
T |
2: 164,790,876 (GRCm39) |
D88V |
probably damaging |
Het |
Muc5ac |
G |
T |
7: 141,370,666 (GRCm39) |
C2522F |
possibly damaging |
Het |
Myo1e |
A |
T |
9: 70,209,065 (GRCm39) |
I110F |
probably damaging |
Het |
Neu1 |
A |
T |
17: 35,153,314 (GRCm39) |
Y279F |
possibly damaging |
Het |
Nhsl1 |
A |
G |
10: 18,284,209 (GRCm39) |
H50R |
probably benign |
Het |
Nlrp3 |
C |
T |
11: 59,446,594 (GRCm39) |
S780F |
possibly damaging |
Het |
Npc1l1 |
T |
G |
11: 6,177,859 (GRCm39) |
D517A |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,114,951 (GRCm39) |
F111L |
probably benign |
Het |
Or1e32 |
T |
C |
11: 73,705,072 (GRCm39) |
T279A |
probably benign |
Het |
Or2z2 |
T |
C |
11: 58,346,667 (GRCm39) |
Y36C |
probably damaging |
Het |
Or52e3 |
G |
A |
7: 102,869,324 (GRCm39) |
R133Q |
probably benign |
Het |
P3h2 |
C |
A |
16: 25,815,986 (GRCm39) |
E176* |
probably null |
Het |
Parp10 |
C |
A |
15: 76,126,190 (GRCm39) |
D333Y |
possibly damaging |
Het |
Pcdhb12 |
C |
T |
18: 37,570,450 (GRCm39) |
A532V |
possibly damaging |
Het |
Pde2a |
A |
T |
7: 101,159,611 (GRCm39) |
T818S |
possibly damaging |
Het |
Phf11 |
A |
T |
14: 59,488,563 (GRCm39) |
V78D |
probably damaging |
Het |
Phip |
A |
T |
9: 82,758,800 (GRCm39) |
L1450Q |
probably benign |
Het |
Pinx1 |
A |
G |
14: 64,156,859 (GRCm39) |
E262G |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,706,014 (GRCm39) |
E19G |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,493,272 (GRCm39) |
I921T |
probably damaging |
Het |
Rgs22 |
T |
A |
15: 36,101,908 (GRCm39) |
H106L |
probably benign |
Het |
Slc10a6 |
T |
C |
5: 103,754,550 (GRCm39) |
D327G |
probably benign |
Het |
Syt1 |
A |
T |
10: 108,467,682 (GRCm39) |
V205D |
possibly damaging |
Het |
Tep1 |
C |
T |
14: 51,064,512 (GRCm39) |
|
probably null |
Het |
Thnsl2 |
T |
A |
6: 71,111,175 (GRCm39) |
Q231L |
probably damaging |
Het |
Ttc4 |
T |
A |
4: 106,524,763 (GRCm39) |
H304L |
probably damaging |
Het |
Unc5c |
G |
A |
3: 141,534,304 (GRCm39) |
V923M |
possibly damaging |
Het |
Zfp777 |
T |
C |
6: 48,002,704 (GRCm39) |
E506G |
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 |
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'- TCTGTCGCTGTCAAGTCATGTGTC -3'
(R):5'- GCTAGAGGAGAACCATTCATGCTGC -3'
Sequencing Primer
(F):5'- CCTACCTTGTCAGAATGGAGTC -3'
(R):5'- TCTACAAAACAGTCACGAGGG -3'
|
Posted On |
2014-02-18 |