Incidental Mutation 'IGL01868:Tbc1d9b'
ID |
178607 |
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 # |
IGL01868
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
50022223-50063612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50052460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 889
(F889S)
|
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: F889S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090825 Gene: ENSMUSG00000036644 AA Change: F889S
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: F889S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098828 Gene: ENSMUSG00000036644 AA Change: F889S
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: ENSMUST00000141520
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
G |
A |
18: 67,547,218 (GRCm39) |
T569M |
possibly damaging |
Het |
Aldh1l1 |
A |
T |
6: 90,560,212 (GRCm39) |
K620* |
probably null |
Het |
Amdhd2 |
G |
T |
17: 24,376,504 (GRCm39) |
T346K |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,902,904 (GRCm39) |
D521G |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,538,052 (GRCm39) |
A91S |
probably damaging |
Het |
Ccdc187 |
C |
A |
2: 26,170,960 (GRCm39) |
R506L |
probably benign |
Het |
Cd37 |
T |
C |
7: 44,885,603 (GRCm39) |
Q128R |
probably benign |
Het |
Cdh22 |
T |
A |
2: 164,999,278 (GRCm39) |
M185L |
probably damaging |
Het |
Cib2 |
A |
T |
9: 54,455,759 (GRCm39) |
N68K |
probably damaging |
Het |
Ddx46 |
C |
T |
13: 55,787,683 (GRCm39) |
R96* |
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,039,944 (GRCm39) |
H2050Q |
possibly damaging |
Het |
Drgx |
C |
A |
14: 32,330,334 (GRCm39) |
F150L |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,168,888 (GRCm39) |
H1172R |
probably benign |
Het |
Eftud2 |
C |
T |
11: 102,759,953 (GRCm39) |
V132I |
probably benign |
Het |
Fcrl5 |
G |
A |
3: 87,351,014 (GRCm39) |
D87N |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Kat6a |
T |
C |
8: 23,416,471 (GRCm39) |
F660L |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,708,238 (GRCm39) |
M259V |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,619,417 (GRCm39) |
L90* |
probably null |
Het |
Lsm1 |
G |
A |
8: 26,283,821 (GRCm39) |
|
probably null |
Het |
Luzp1 |
T |
C |
4: 136,270,048 (GRCm39) |
I757T |
probably damaging |
Het |
Micall1 |
A |
G |
15: 78,999,260 (GRCm39) |
I76V |
probably benign |
Het |
Mmp21 |
A |
T |
7: 133,277,643 (GRCm39) |
D394E |
probably damaging |
Het |
Mtfr1l |
T |
C |
4: 134,258,018 (GRCm39) |
D68G |
probably null |
Het |
Necab2 |
A |
G |
8: 120,189,315 (GRCm39) |
S162G |
probably benign |
Het |
Or11a4 |
A |
T |
17: 37,536,043 (GRCm39) |
Q9L |
probably benign |
Het |
Or4c100 |
T |
C |
2: 88,356,059 (GRCm39) |
V44A |
possibly damaging |
Het |
Or51b17 |
G |
A |
7: 103,542,583 (GRCm39) |
R120* |
probably null |
Het |
Or6n1 |
C |
T |
1: 173,916,936 (GRCm39) |
T110I |
possibly damaging |
Het |
Pde7b |
A |
T |
10: 20,282,911 (GRCm39) |
C376* |
probably null |
Het |
Pira12 |
G |
A |
7: 3,900,174 (GRCm39) |
Q143* |
probably null |
Het |
Plcb2 |
A |
G |
2: 118,540,071 (GRCm39) |
L1074P |
probably damaging |
Het |
Plcb2 |
G |
T |
2: 118,541,868 (GRCm39) |
T914N |
probably benign |
Het |
Prph |
C |
A |
15: 98,954,224 (GRCm39) |
D207E |
probably damaging |
Het |
Rbp4 |
C |
A |
19: 38,112,968 (GRCm39) |
R37L |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,633,503 (GRCm39) |
|
probably benign |
Het |
Sardh |
T |
G |
2: 27,117,159 (GRCm39) |
Q496P |
probably benign |
Het |
Serpina1f |
T |
A |
12: 103,659,704 (GRCm39) |
N193Y |
probably benign |
Het |
Slc10a7 |
G |
A |
8: 79,423,965 (GRCm39) |
|
probably null |
Het |
Spg7 |
T |
C |
8: 123,816,975 (GRCm39) |
|
probably null |
Het |
Sphkap |
T |
C |
1: 83,258,120 (GRCm39) |
|
probably null |
Het |
Tas2r121 |
T |
A |
6: 132,677,235 (GRCm39) |
I246L |
probably benign |
Het |
Tcp10a |
T |
C |
17: 7,597,263 (GRCm39) |
M140T |
possibly damaging |
Het |
Tctn2 |
G |
A |
5: 124,754,591 (GRCm39) |
|
noncoding transcript |
Het |
Tfap2b |
G |
T |
1: 19,284,506 (GRCm39) |
R138L |
probably damaging |
Het |
Tnrc18 |
T |
C |
5: 142,757,567 (GRCm39) |
T985A |
unknown |
Het |
Treml1 |
G |
A |
17: 48,673,035 (GRCm39) |
V211I |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,139,989 (GRCm39) |
Q1191* |
probably null |
Het |
Vim |
G |
A |
2: 13,583,249 (GRCm39) |
R217H |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r77 |
A |
G |
7: 86,452,224 (GRCm39) |
D468G |
probably benign |
Het |
Vmn2r98 |
G |
T |
17: 19,286,548 (GRCm39) |
V349F |
probably benign |
Het |
Vwa7 |
A |
T |
17: 35,240,235 (GRCm39) |
E401V |
probably null |
Het |
Zfp119b |
C |
A |
17: 56,246,866 (GRCm39) |
V75L |
possibly damaging |
Het |
Zfp287 |
C |
T |
11: 62,606,083 (GRCm39) |
E275K |
probably benign |
Het |
|
Other mutations in Tbc1d9b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02801:Tbc1d9b
|
APN |
11 |
50,043,657 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |