Incidental Mutation 'R2208:Cep170b'
| ID |
236792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep170b
|
| Ensembl Gene |
ENSMUSG00000072825 |
| Gene Name |
centrosomal protein 170B |
| Synonyms |
|
| MMRRC Submission |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.651)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
112720455-112746592 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112738985 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1059
(L1059Q)
|
| 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 benign
Transcript: ENSMUST00000101018
AA Change: L1059Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: L1059Q
| 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: L1059Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: L1059Q
| 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 benign
Transcript: ENSMUST00000220627
AA Change: L1059Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222612
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222711
AA Change: L1059Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223104
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
A |
15: 8,194,403 (GRCm38) |
N883K |
probably benign |
Het |
| Ahnak |
T |
C |
19: 9,017,732 (GRCm38) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,533,455 (GRCm38) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,532,344 (GRCm38) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,107,960 (GRCm38) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,841,178 (GRCm38) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,336,029 (GRCm38) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,609,382 (GRCm38) |
E516V |
probably damaging |
Het |
| Chrm1 |
T |
C |
19: 8,678,099 (GRCm38) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,265,355 (GRCm38) |
V22D |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,560,961 (GRCm38) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,556,936 (GRCm38) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 115,126,594 (GRCm38) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,791,597 (GRCm38) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,988,762 (GRCm38) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 (GRCm38) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,472,684 (GRCm38) |
|
probably benign |
Het |
| Gm14139 |
T |
A |
2: 150,193,145 (GRCm38) |
V462E |
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm38) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,023,453 (GRCm38) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,380,297 (GRCm38) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 100,102,939 (GRCm38) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,247,877 (GRCm38) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,855,790 (GRCm38) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,614,415 (GRCm38) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,134,109 (GRCm38) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,590,108 (GRCm38) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,871,549 (GRCm38) |
|
noncoding transcript |
Het |
| Nabp1 |
G |
A |
1: 51,477,614 (GRCm38) |
R32* |
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 84,716,247 (GRCm38) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,965,719 (GRCm38) |
D196G |
probably damaging |
Het |
| Olfr747 |
T |
C |
14: 50,681,563 (GRCm38) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,365,802 (GRCm38) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,250,347 (GRCm38) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,696,131 (GRCm38) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,999,639 (GRCm38) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,799,264 (GRCm38) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,269,172 (GRCm38) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,617,964 (GRCm38) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,232 (GRCm38) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,402,088 (GRCm38) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,906,318 (GRCm38) |
T92A |
possibly damaging |
Het |
| Tarsl2 |
T |
C |
7: 65,682,848 (GRCm38) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,150,792 (GRCm38) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 50,866,864 (GRCm38) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,214,563 (GRCm38) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,079,240 (GRCm38) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 30,004,246 (GRCm38) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,297,443 (GRCm38) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 25,860,388 (GRCm38) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 26,974,124 (GRCm38) |
C168R |
possibly damaging |
Het |
|
| Other mutations in Cep170b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Cep170b
|
APN |
12 |
112,735,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01313:Cep170b
|
APN |
12 |
112,735,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01317:Cep170b
|
APN |
12 |
112,737,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01660:Cep170b
|
APN |
12 |
112,744,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02032:Cep170b
|
APN |
12 |
112,737,333 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02505:Cep170b
|
APN |
12 |
112,743,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02966:Cep170b
|
APN |
12 |
112,736,444 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL03111:Cep170b
|
APN |
12 |
112,735,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03367:Cep170b
|
APN |
12 |
112,737,238 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0348:Cep170b
|
UTSW |
12 |
112,736,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0562:Cep170b
|
UTSW |
12 |
112,739,189 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0909:Cep170b
|
UTSW |
12 |
112,732,039 (GRCm38) |
missense |
probably null |
0.06 |
|
R1217:Cep170b
|
UTSW |
12 |
112,740,905 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1300:Cep170b
|
UTSW |
12 |
112,737,257 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1647:Cep170b
|
UTSW |
12 |
112,736,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1648:Cep170b
|
UTSW |
12 |
112,736,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1652:Cep170b
|
UTSW |
12 |
112,733,513 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1737:Cep170b
|
UTSW |
12 |
112,736,627 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1936:Cep170b
|
UTSW |
12 |
112,735,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1962:Cep170b
|
UTSW |
12 |
112,738,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2094:Cep170b
|
UTSW |
12 |
112,735,730 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3418:Cep170b
|
UTSW |
12 |
112,738,468 (GRCm38) |
nonsense |
probably null |
|
|
R3735:Cep170b
|
UTSW |
12 |
112,741,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3736:Cep170b
|
UTSW |
12 |
112,741,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4299:Cep170b
|
UTSW |
12 |
112,739,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4577:Cep170b
|
UTSW |
12 |
112,744,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5199:Cep170b
|
UTSW |
12 |
112,744,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5512:Cep170b
|
UTSW |
12 |
112,733,485 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5575:Cep170b
|
UTSW |
12 |
112,735,632 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5643:Cep170b
|
UTSW |
12 |
112,740,841 (GRCm38) |
missense |
probably benign |
0.35 |
|
R6074:Cep170b
|
UTSW |
12 |
112,744,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6265:Cep170b
|
UTSW |
12 |
112,744,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6371:Cep170b
|
UTSW |
12 |
112,740,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6376:Cep170b
|
UTSW |
12 |
112,732,068 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7055:Cep170b
|
UTSW |
12 |
112,735,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7137:Cep170b
|
UTSW |
12 |
112,735,167 (GRCm38) |
missense |
probably benign |
|
|
R7226:Cep170b
|
UTSW |
12 |
112,737,925 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7615:Cep170b
|
UTSW |
12 |
112,744,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7831:Cep170b
|
UTSW |
12 |
112,744,800 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8178:Cep170b
|
UTSW |
12 |
112,739,285 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8492:Cep170b
|
UTSW |
12 |
112,744,700 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8838:Cep170b
|
UTSW |
12 |
112,743,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8859:Cep170b
|
UTSW |
12 |
112,736,447 (GRCm38) |
missense |
probably benign |
|
|
R9573:Cep170b
|
UTSW |
12 |
112,724,720 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9643:Cep170b
|
UTSW |
12 |
112,737,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9694:Cep170b
|
UTSW |
12 |
112,735,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9778:Cep170b
|
UTSW |
12 |
112,731,430 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9783:Cep170b
|
UTSW |
12 |
112,744,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Cep170b
|
UTSW |
12 |
112,741,012 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGAAGGAGAGCCCATTGTCTC -3'
(R):5'- ATCCACAGCCTCAGTGTCTG -3'
Sequencing Primer
(F):5'- ACAGTACCAGACCCAGGGG -3'
(R):5'- TGTCTGAGGCATCCCCTAGAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation