Incidental Mutation 'IGL01313:Cep170b'
| ID |
73762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep170b
|
| Ensembl Gene |
ENSMUSG00000072825 |
| Gene Name |
centrosomal protein 170B |
| Synonyms |
AW555464 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.601)
|
| Stock # |
IGL01313
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
112687950-112713026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112702086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 293
(R293H)
|
| 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: R293H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: R293H
| 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: R293H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: R293H
| 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: R293H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222532
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222711
AA Change: R293H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223104
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,621,969 (GRCm39) |
|
probably null |
Het |
| Abca7 |
T |
A |
10: 79,838,957 (GRCm39) |
|
probably benign |
Het |
| Acvr1c |
T |
G |
2: 58,205,986 (GRCm39) |
Q41H |
probably benign |
Het |
| Apob |
A |
T |
12: 8,050,898 (GRCm39) |
N1041Y |
probably damaging |
Het |
| Asb5 |
A |
T |
8: 55,038,798 (GRCm39) |
|
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,516 (GRCm39) |
E835V |
probably benign |
Het |
| Ccdc73 |
A |
T |
2: 104,737,972 (GRCm39) |
M23L |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,448,032 (GRCm39) |
L316F |
probably damaging |
Het |
| Cldn13 |
T |
C |
5: 134,944,114 (GRCm39) |
S24G |
possibly damaging |
Het |
| Cnot10 |
A |
T |
9: 114,460,923 (GRCm39) |
N82K |
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,323,157 (GRCm39) |
V127M |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,478 (GRCm39) |
S130G |
unknown |
Het |
| Ddx60 |
T |
A |
8: 62,435,560 (GRCm39) |
H904Q |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,362 (GRCm39) |
S435T |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,979,974 (GRCm39) |
N177S |
possibly damaging |
Het |
| F5 |
G |
T |
1: 164,021,181 (GRCm39) |
V1219L |
probably benign |
Het |
| Fam47c |
G |
T |
X: 77,781,454 (GRCm39) |
R12L |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,061,350 (GRCm39) |
I4311T |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,907 (GRCm39) |
V545A |
probably benign |
Het |
| Fhod3 |
G |
A |
18: 25,153,777 (GRCm39) |
E420K |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,589 (GRCm39) |
K162E |
probably damaging |
Het |
| Insl6 |
C |
A |
19: 29,298,953 (GRCm39) |
S153I |
possibly damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,141,708 (GRCm39) |
Y317C |
probably damaging |
Het |
| Lzts1 |
C |
A |
8: 69,591,759 (GRCm39) |
V130L |
probably benign |
Het |
| Mill1 |
T |
C |
7: 17,998,558 (GRCm39) |
I256T |
possibly damaging |
Het |
| Mycbpap |
A |
C |
11: 94,400,145 (GRCm39) |
|
probably null |
Het |
| Or6c65 |
A |
G |
10: 129,603,464 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pdia6 |
T |
A |
12: 17,320,542 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
C |
T |
1: 132,999,369 (GRCm39) |
Q406* |
probably null |
Het |
| Pkhd1 |
C |
A |
1: 20,271,248 (GRCm39) |
G3102C |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,561,607 (GRCm39) |
I1122N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,653,371 (GRCm39) |
|
probably null |
Het |
| Samhd1 |
A |
G |
2: 156,958,321 (GRCm39) |
I300T |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,662,361 (GRCm39) |
I609F |
unknown |
Het |
| Slc27a3 |
G |
T |
3: 90,293,861 (GRCm39) |
T541K |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Sv2c |
C |
T |
13: 96,224,797 (GRCm39) |
V171M |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,075 (GRCm39) |
V2154A |
probably damaging |
Het |
| Thoc1 |
A |
T |
18: 9,987,158 (GRCm39) |
I433F |
probably benign |
Het |
| Thoc2 |
A |
T |
X: 40,916,223 (GRCm39) |
V865D |
probably benign |
Het |
| Trdn |
C |
A |
10: 33,076,216 (GRCm39) |
P282Q |
probably damaging |
Het |
| Twsg1 |
C |
A |
17: 66,255,699 (GRCm39) |
C25F |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,423,206 (GRCm39) |
I3155N |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,498,651 (GRCm39) |
Q420L |
probably damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,770,419 (GRCm39) |
R523K |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation