Incidental Mutation 'R3825:Tbc1d9b'
| ID |
275351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9b
|
| Ensembl Gene |
ENSMUSG00000036644 |
| Gene Name |
TBC1 domain family, member 9B |
| Synonyms |
2700008N14Rik |
| MMRRC Submission |
040774-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.553)
|
| Stock # |
R3825 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50022223-50063612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50061954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1171
(V1171A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020647]
[ENSMUST00000093138]
[ENSMUST00000101270]
[ENSMUST00000123164]
|
| AlphaFold |
Q5SVR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020647
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093138
AA Change: V1154A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: V1154A
| 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: V1171A
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: V1171A
| 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 |
probably benign
Transcript: ENSMUST00000123164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143480
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,693,739 (GRCm39) |
K69E |
probably damaging |
Het |
| Abcb5 |
C |
T |
12: 118,865,087 (GRCm39) |
|
probably null |
Het |
| Acot1 |
G |
T |
12: 84,061,194 (GRCm39) |
G167* |
probably null |
Het |
| Agbl1 |
C |
T |
7: 76,069,715 (GRCm39) |
H164Y |
probably damaging |
Het |
| Atp4b |
T |
C |
8: 13,443,549 (GRCm39) |
Y43C |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,055 (GRCm39) |
D3333G |
unknown |
Het |
| Ccdc27 |
A |
C |
4: 154,120,742 (GRCm39) |
D351E |
unknown |
Het |
| Cd200r4 |
T |
C |
16: 44,641,313 (GRCm39) |
F19L |
probably benign |
Het |
| Dbndd1 |
T |
A |
8: 124,236,731 (GRCm39) |
I75F |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,946,334 (GRCm39) |
K426E |
probably benign |
Het |
| Drg2 |
A |
G |
11: 60,350,334 (GRCm39) |
T98A |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fmo1 |
T |
C |
1: 162,678,916 (GRCm39) |
|
probably benign |
Het |
| Foxn2 |
A |
T |
17: 88,791,837 (GRCm39) |
I236F |
probably damaging |
Het |
| Glmp |
G |
A |
3: 88,233,718 (GRCm39) |
V107I |
probably damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,723 (GRCm39) |
F122S |
probably damaging |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,780 (GRCm39) |
I158M |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,462,716 (GRCm39) |
D5140E |
probably benign |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Igfbp4 |
A |
G |
11: 98,939,061 (GRCm39) |
E27G |
probably damaging |
Het |
| Il7 |
A |
G |
3: 7,642,226 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
G |
T |
8: 23,352,380 (GRCm39) |
V55F |
probably damaging |
Het |
| Kynu |
A |
G |
2: 43,571,451 (GRCm39) |
T456A |
probably benign |
Het |
| Lcorl |
A |
G |
5: 45,932,729 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,655,290 (GRCm39) |
R1077* |
probably null |
Het |
| Mab21l2 |
T |
C |
3: 86,454,211 (GRCm39) |
E263G |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,338,744 (GRCm39) |
D1436V |
probably benign |
Het |
| Map4k2 |
C |
A |
19: 6,394,081 (GRCm39) |
T252N |
probably benign |
Het |
| Mterf2 |
A |
T |
10: 84,956,147 (GRCm39) |
L159Q |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,368,460 (GRCm39) |
T3063K |
possibly damaging |
Het |
| Myo18a |
T |
A |
11: 77,668,292 (GRCm39) |
S51T |
possibly damaging |
Het |
| Ncoa3 |
G |
T |
2: 165,896,718 (GRCm39) |
G503V |
possibly damaging |
Het |
| Ncor1 |
A |
T |
11: 62,264,183 (GRCm39) |
H406Q |
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,458,510 (GRCm39) |
K434E |
possibly damaging |
Het |
| Nipal2 |
A |
T |
15: 34,578,852 (GRCm39) |
|
probably null |
Het |
| Nub1 |
G |
C |
5: 24,912,851 (GRCm39) |
S517T |
probably benign |
Het |
| Or10a4 |
T |
C |
7: 106,696,816 (GRCm39) |
L48P |
possibly damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,391 (GRCm39) |
V255A |
probably damaging |
Het |
| Or8b101 |
A |
T |
9: 38,020,134 (GRCm39) |
I51F |
possibly damaging |
Het |
| Or8c17 |
T |
G |
9: 38,179,814 (GRCm39) |
S2A |
probably benign |
Het |
| Plscr3 |
G |
A |
11: 69,740,964 (GRCm39) |
V267M |
probably benign |
Het |
| Plxnb2 |
G |
T |
15: 89,050,602 (GRCm39) |
N451K |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,259,892 (GRCm39) |
L268P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,186,694 (GRCm39) |
I1743F |
probably benign |
Het |
| Rack1 |
A |
G |
11: 48,693,131 (GRCm39) |
T105A |
probably benign |
Het |
| Rhot1 |
G |
A |
11: 80,116,907 (GRCm39) |
V94I |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,351,517 (GRCm39) |
|
probably benign |
Het |
| Spink8 |
T |
A |
9: 109,645,861 (GRCm39) |
V11D |
probably damaging |
Het |
| Ss18l1 |
A |
T |
2: 179,705,103 (GRCm39) |
Q365L |
unknown |
Het |
| Tbc1d31 |
T |
A |
15: 57,779,474 (GRCm39) |
H62Q |
probably benign |
Het |
| Tln1 |
G |
A |
4: 43,536,413 (GRCm39) |
|
probably benign |
Het |
| Tmem220 |
G |
A |
11: 66,916,077 (GRCm39) |
A25T |
possibly damaging |
Het |
| Tmem259 |
T |
C |
10: 79,814,282 (GRCm39) |
N334S |
possibly damaging |
Het |
| Tmod3 |
A |
T |
9: 75,414,809 (GRCm39) |
|
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,398,021 (GRCm39) |
Y52N |
probably damaging |
Het |
| Tsga10 |
A |
T |
1: 37,873,278 (GRCm39) |
N200K |
possibly damaging |
Het |
| Ube2frt |
T |
C |
12: 36,141,036 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
T |
A |
13: 22,286,382 (GRCm39) |
T152S |
probably benign |
Het |
| Vmn2r76 |
C |
T |
7: 85,880,415 (GRCm39) |
M90I |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,166,277 (GRCm39) |
A849V |
probably damaging |
Het |
| Znhit6 |
T |
C |
3: 145,284,099 (GRCm39) |
M95T |
probably benign |
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 |
|
|
R2915:Tbc1d9b
|
UTSW |
11 |
50,040,563 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- ACAGGAATGTCAGCCACCAG -3'
(R):5'- TTGATCTTGAGTCCAATGTCTACC -3'
Sequencing Primer
(F):5'- CACCAGCTGCAGGGGAC -3'
(R):5'- TTCTCAAAGAAGTTCACTAGCACAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation