Incidental Mutation 'R2915:Tbc1d9b'
ID |
254856 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d9b
|
Ensembl Gene |
ENSMUSG00000036644 |
Gene Name |
TBC1 domain family, member 9B |
Synonyms |
2700008N14Rik |
MMRRC Submission |
040502-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.553)
|
Stock # |
R2915 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
50022223-50063612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 50040563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 360
(V360D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098828
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093138]
[ENSMUST00000101270]
|
AlphaFold |
Q5SVR0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093138
AA Change: V360D
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000090825 Gene: ENSMUSG00000036644 AA Change: V360D
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 |
possibly damaging
Transcript: ENSMUST00000101270
AA Change: V360D
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000098828 Gene: ENSMUSG00000036644 AA Change: V360D
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Arhgap11a |
A |
G |
2: 113,663,853 (GRCm39) |
V810A |
probably damaging |
Het |
B3gnt6 |
T |
C |
7: 97,842,800 (GRCm39) |
N387D |
probably benign |
Het |
Col5a2 |
C |
G |
1: 45,452,656 (GRCm39) |
G358R |
probably damaging |
Het |
Cracr2a |
A |
G |
6: 127,588,468 (GRCm39) |
K209R |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,464,741 (GRCm39) |
N32S |
unknown |
Het |
Dusp13b |
T |
A |
14: 21,790,205 (GRCm39) |
N47I |
probably damaging |
Het |
Elmo2 |
A |
G |
2: 165,139,573 (GRCm39) |
|
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,591,172 (GRCm39) |
F110L |
probably damaging |
Het |
Gabrb2 |
T |
A |
11: 42,482,734 (GRCm39) |
N197K |
probably benign |
Het |
Gdnf |
T |
A |
15: 7,845,130 (GRCm39) |
V41E |
possibly damaging |
Het |
Gm21915 |
A |
G |
9: 40,582,083 (GRCm39) |
I59V |
possibly damaging |
Het |
Gprin2 |
C |
T |
14: 33,917,038 (GRCm39) |
G244D |
possibly damaging |
Het |
Grin2d |
T |
C |
7: 45,482,781 (GRCm39) |
|
probably benign |
Het |
Ice2 |
A |
G |
9: 69,318,122 (GRCm39) |
D241G |
probably benign |
Het |
Mios |
C |
T |
6: 8,214,935 (GRCm39) |
R44C |
possibly damaging |
Het |
Nlrp5-ps |
T |
C |
7: 14,320,636 (GRCm39) |
|
noncoding transcript |
Het |
Nyap2 |
C |
T |
1: 81,065,188 (GRCm39) |
R67* |
probably null |
Het |
Or4d6 |
G |
A |
19: 12,085,989 (GRCm39) |
P81L |
probably benign |
Het |
Or4f14 |
G |
T |
2: 111,743,064 (GRCm39) |
D70E |
probably damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,389 (GRCm39) |
V76E |
probably damaging |
Het |
Or5t9 |
T |
C |
2: 86,659,570 (GRCm39) |
I158T |
probably benign |
Het |
Or8g19 |
G |
T |
9: 39,055,762 (GRCm39) |
R122L |
possibly damaging |
Het |
Otop2 |
G |
A |
11: 115,219,972 (GRCm39) |
A271T |
probably benign |
Het |
Otulin |
A |
G |
15: 27,619,716 (GRCm39) |
|
probably benign |
Het |
Pax1 |
A |
G |
2: 147,210,348 (GRCm39) |
Y361C |
probably damaging |
Het |
Pcdhb12 |
A |
T |
18: 37,570,693 (GRCm39) |
N613I |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,534,925 (GRCm39) |
K173E |
probably damaging |
Het |
Plin4 |
T |
A |
17: 56,411,389 (GRCm39) |
T881S |
probably damaging |
Het |
Poli |
A |
G |
18: 70,655,771 (GRCm39) |
|
probably null |
Het |
Prex2 |
T |
A |
1: 11,240,077 (GRCm39) |
F898I |
probably damaging |
Het |
Prr14l |
A |
T |
5: 32,987,112 (GRCm39) |
H794Q |
probably benign |
Het |
Prss1 |
A |
T |
6: 41,439,545 (GRCm39) |
I93F |
probably benign |
Het |
Ptpro |
C |
T |
6: 137,391,239 (GRCm39) |
|
probably benign |
Het |
Rad1 |
T |
C |
15: 10,486,728 (GRCm39) |
C42R |
probably damaging |
Het |
Rnf20 |
A |
G |
4: 49,638,769 (GRCm39) |
E197G |
probably benign |
Het |
Setx |
A |
G |
2: 29,062,336 (GRCm39) |
E2260G |
probably damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Six2 |
A |
G |
17: 85,992,616 (GRCm39) |
S296P |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,810,102 (GRCm39) |
|
probably benign |
Het |
Spred2 |
T |
C |
11: 19,948,215 (GRCm39) |
V41A |
probably damaging |
Het |
Ssu2 |
A |
T |
6: 112,354,566 (GRCm39) |
C219* |
probably null |
Het |
Tdrd9 |
G |
A |
12: 112,006,895 (GRCm39) |
D920N |
probably damaging |
Het |
Tyrp1 |
A |
G |
4: 80,755,692 (GRCm39) |
T154A |
possibly damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Wac |
A |
C |
18: 7,926,131 (GRCm39) |
M596L |
possibly damaging |
Het |
Zfhx2 |
G |
T |
14: 55,302,014 (GRCm39) |
P1990Q |
probably damaging |
Het |
Zfp853 |
T |
C |
5: 143,275,332 (GRCm39) |
E96G |
unknown |
Het |
Zzef1 |
G |
A |
11: 72,801,152 (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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACATCATCTTCCCAGAGCCTG -3'
(R):5'- GTCTGAAACACTGGCCTTTG -3'
Sequencing Primer
(F):5'- GTGCAGCTCACACGCAAG -3'
(R):5'- GAAACACTGGCCTTTGTTCCC -3'
|
Posted On |
2014-12-29 |