Incidental Mutation 'IGL02801:Tbc1d9b'
| ID |
360200 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d9b
|
| Ensembl Gene |
ENSMUSG00000036644 |
| Gene Name |
TBC1 domain family, member 9B |
| Synonyms |
2700008N14Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.553)
|
| Stock # |
IGL02801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
50022223-50063612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50043657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 593
(Y593H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093138]
[ENSMUST00000101270]
|
| AlphaFold |
Q5SVR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093138
AA Change: Y593H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: Y593H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
GRAM
|
142 |
209 |
1.21e-26 |
SMART |
|
GRAM
|
288 |
356 |
3.02e-22 |
SMART |
|
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
TBC
|
506 |
719 |
1.18e-57 |
SMART |
|
Blast:TBC
|
727 |
810 |
2e-28 |
BLAST |
|
low complexity region
|
1124 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1144 |
1155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101270
AA Change: Y593H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: Y593H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
GRAM
|
142 |
209 |
1.21e-26 |
SMART |
|
GRAM
|
288 |
356 |
3.02e-22 |
SMART |
|
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
TBC
|
506 |
719 |
1.18e-57 |
SMART |
|
Blast:TBC
|
727 |
810 |
3e-28 |
BLAST |
|
low complexity region
|
970 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1155 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124605
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148887
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap5 |
A |
T |
12: 76,375,769 (GRCm39) |
K400N |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,393,336 (GRCm39) |
I1193F |
probably damaging |
Het |
| Arhgef16 |
A |
T |
4: 154,375,964 (GRCm39) |
L10Q |
probably damaging |
Het |
| Arl10 |
T |
C |
13: 54,723,696 (GRCm39) |
V106A |
probably benign |
Het |
| Bmi1 |
T |
C |
2: 18,686,692 (GRCm39) |
Y24H |
probably damaging |
Het |
| Cd163 |
T |
A |
6: 124,297,488 (GRCm39) |
I878K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,515,696 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,445,868 (GRCm39) |
|
probably null |
Het |
| Dcp2 |
G |
T |
18: 44,550,778 (GRCm39) |
M417I |
probably damaging |
Het |
| Ddx11 |
T |
A |
17: 66,455,028 (GRCm39) |
C662S |
probably benign |
Het |
| Dhx29 |
G |
A |
13: 113,101,180 (GRCm39) |
C1241Y |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,455,010 (GRCm39) |
P37L |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,037,476 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
A |
14: 119,123,067 (GRCm39) |
K643* |
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,079,725 (GRCm39) |
S463P |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,784,104 (GRCm39) |
V1361A |
possibly damaging |
Het |
| Fads2 |
C |
A |
19: 10,060,009 (GRCm39) |
A222S |
possibly damaging |
Het |
| Fancd2 |
A |
G |
6: 113,570,278 (GRCm39) |
N1410D |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,144 (GRCm39) |
F199S |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,596 (GRCm39) |
V1637A |
possibly damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,803,220 (GRCm39) |
S442P |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,966 (GRCm39) |
T114A |
possibly damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,912 (GRCm39) |
E27G |
probably damaging |
Het |
| Isl2 |
A |
G |
9: 55,452,816 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
T |
A |
1: 153,012,529 (GRCm39) |
H715L |
probably benign |
Het |
| Lrif1 |
T |
C |
3: 106,641,930 (GRCm39) |
V102A |
possibly damaging |
Het |
| Lrrc39 |
A |
G |
3: 116,371,995 (GRCm39) |
N254S |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,883,178 (GRCm39) |
W1346R |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,360,930 (GRCm39) |
I570T |
probably damaging |
Het |
| Mlkl |
G |
A |
8: 112,043,064 (GRCm39) |
T361M |
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,797,111 (GRCm39) |
M94K |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,580,876 (GRCm39) |
C124R |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,574,095 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Pde1c |
G |
T |
6: 56,150,651 (GRCm39) |
N289K |
probably damaging |
Het |
| Pfas |
G |
A |
11: 68,879,103 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
A |
T |
5: 143,862,653 (GRCm39) |
I587F |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,440,755 (GRCm39) |
E721G |
possibly damaging |
Het |
| Ppp2r1b |
A |
G |
9: 50,790,127 (GRCm39) |
I435V |
probably benign |
Het |
| Psip1 |
C |
T |
4: 83,376,357 (GRCm39) |
S494N |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,017,766 (GRCm39) |
V474A |
probably benign |
Het |
| Rnf220 |
C |
T |
4: 117,130,448 (GRCm39) |
C259Y |
probably damaging |
Het |
| Sdr16c6 |
T |
C |
4: 4,076,603 (GRCm39) |
I99V |
probably benign |
Het |
| Slc36a1 |
A |
T |
11: 55,116,879 (GRCm39) |
I303F |
probably benign |
Het |
| Slc4a1 |
C |
T |
11: 102,249,972 (GRCm39) |
|
probably null |
Het |
| Syncrip |
A |
T |
9: 88,361,862 (GRCm39) |
D84E |
probably damaging |
Het |
| Tenm2 |
G |
T |
11: 35,937,857 (GRCm39) |
Y1605* |
probably null |
Het |
| Tmem135 |
T |
A |
7: 88,803,333 (GRCm39) |
H280L |
probably benign |
Het |
| Tmem229a |
T |
A |
6: 24,955,121 (GRCm39) |
Q211L |
probably benign |
Het |
| Txlna |
T |
C |
4: 129,534,201 (GRCm39) |
D5G |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,098,056 (GRCm39) |
I4V |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,055,453 (GRCm39) |
L1539S |
probably damaging |
Het |
| Zdhhc14 |
T |
G |
17: 5,777,094 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tbc1d9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Tbc1d9b
|
APN |
11 |
50,052,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01870:Tbc1d9b
|
APN |
11 |
50,052,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02082:Tbc1d9b
|
APN |
11 |
50,054,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02105:Tbc1d9b
|
APN |
11 |
50,040,653 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02264:Tbc1d9b
|
APN |
11 |
50,040,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03111:Tbc1d9b
|
APN |
11 |
50,049,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Tbc1d9b
|
UTSW |
11 |
50,042,773 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0102:Tbc1d9b
|
UTSW |
11 |
50,026,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Tbc1d9b
|
UTSW |
11 |
50,049,261 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0131:Tbc1d9b
|
UTSW |
11 |
50,026,751 (GRCm39) |
missense |
probably benign |
|
|
R0463:Tbc1d9b
|
UTSW |
11 |
50,035,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0472:Tbc1d9b
|
UTSW |
11 |
50,059,055 (GRCm39) |
splice site |
probably null |
|
|
R0846:Tbc1d9b
|
UTSW |
11 |
50,062,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1099:Tbc1d9b
|
UTSW |
11 |
50,037,135 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1276:Tbc1d9b
|
UTSW |
11 |
50,043,476 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1642:Tbc1d9b
|
UTSW |
11 |
50,040,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2679:Tbc1d9b
|
UTSW |
11 |
50,052,528 (GRCm39) |
splice site |
probably null |
|
|
R2915:Tbc1d9b
|
UTSW |
11 |
50,040,563 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3825:Tbc1d9b
|
UTSW |
11 |
50,061,954 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3964:Tbc1d9b
|
UTSW |
11 |
50,059,523 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4051:Tbc1d9b
|
UTSW |
11 |
50,062,070 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4705:Tbc1d9b
|
UTSW |
11 |
50,031,289 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4783:Tbc1d9b
|
UTSW |
11 |
50,062,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5330:Tbc1d9b
|
UTSW |
11 |
50,037,140 (GRCm39) |
missense |
probably benign |
|
|
R5331:Tbc1d9b
|
UTSW |
11 |
50,037,140 (GRCm39) |
missense |
probably benign |
|
|
R5888:Tbc1d9b
|
UTSW |
11 |
50,031,311 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5949:Tbc1d9b
|
UTSW |
11 |
50,038,876 (GRCm39) |
missense |
probably benign |
|
|
R6144:Tbc1d9b
|
UTSW |
11 |
50,037,155 (GRCm39) |
missense |
probably benign |
|
|
R6166:Tbc1d9b
|
UTSW |
11 |
50,026,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Tbc1d9b
|
UTSW |
11 |
50,022,324 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6432:Tbc1d9b
|
UTSW |
11 |
50,037,155 (GRCm39) |
missense |
probably benign |
|
|
R6856:Tbc1d9b
|
UTSW |
11 |
50,059,573 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7110:Tbc1d9b
|
UTSW |
11 |
50,054,657 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7134:Tbc1d9b
|
UTSW |
11 |
50,043,519 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7372:Tbc1d9b
|
UTSW |
11 |
50,059,515 (GRCm39) |
splice site |
probably null |
|
|
R7464:Tbc1d9b
|
UTSW |
11 |
50,022,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7508:Tbc1d9b
|
UTSW |
11 |
50,035,947 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7584:Tbc1d9b
|
UTSW |
11 |
50,061,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7730:Tbc1d9b
|
UTSW |
11 |
50,026,742 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7747:Tbc1d9b
|
UTSW |
11 |
50,052,447 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8260:Tbc1d9b
|
UTSW |
11 |
50,055,013 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8345:Tbc1d9b
|
UTSW |
11 |
50,040,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8711:Tbc1d9b
|
UTSW |
11 |
50,047,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Tbc1d9b
|
UTSW |
11 |
50,061,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9012:Tbc1d9b
|
UTSW |
11 |
50,040,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9300:Tbc1d9b
|
UTSW |
11 |
50,054,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9655:Tbc1d9b
|
UTSW |
11 |
50,059,610 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9794:Tbc1d9b
|
UTSW |
11 |
50,062,005 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0065:Tbc1d9b
|
UTSW |
11 |
50,059,010 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation