Incidental Mutation 'R1605:Tbc1d8'
| ID |
176373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d8
|
| Ensembl Gene |
ENSMUSG00000003134 |
| Gene Name |
TBC1 domain family, member 8 |
| Synonyms |
GRAM domain, BUB2-like protein 1, HBLP1, AD3 |
| MMRRC Submission |
039642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1605 (G1)
|
| Quality Score |
173 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39430206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 466
(S466P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000192531]
[ENSMUST00000193823]
|
| AlphaFold |
Q9Z1A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054462
AA Change: S466P
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: S466P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
|
GRAM
|
145 |
212 |
3.6e-20 |
SMART |
|
GRAM
|
285 |
353 |
2.77e-21 |
SMART |
|
TBC
|
501 |
714 |
4.51e-54 |
SMART |
|
Blast:TBC
|
726 |
923 |
1e-120 |
BLAST |
|
coiled coil region
|
960 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1030 |
1045 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192531
|
| SMART Domains |
Protein: ENSMUSP00000142143
Gene: ENSMUSG00000003134
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193823
AA Change: S466P
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: S466P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
|
GRAM
|
145 |
212 |
1.2e-22 |
SMART |
|
GRAM
|
285 |
353 |
9.6e-24 |
SMART |
|
TBC
|
501 |
714 |
2.2e-56 |
SMART |
|
Blast:TBC
|
726 |
923 |
1e-120 |
BLAST |
|
coiled coil region
|
960 |
990 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195854
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
A |
G |
4: 126,506,104 (GRCm39) |
K211E |
probably damaging |
Het |
| Acot7 |
A |
G |
4: 152,291,285 (GRCm39) |
I84V |
possibly damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,867,781 (GRCm39) |
V34A |
probably benign |
Het |
| Atp4b |
A |
T |
8: 13,443,489 (GRCm39) |
M63K |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,818,516 (GRCm39) |
I2163K |
probably damaging |
Het |
| Azgp1 |
A |
T |
5: 137,983,426 (GRCm39) |
R34* |
probably null |
Het |
| Ccdc152 |
T |
G |
15: 3,327,603 (GRCm39) |
K58T |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,827,837 (GRCm39) |
Q912L |
probably benign |
Het |
| Cdc42ep5 |
T |
A |
7: 4,154,395 (GRCm39) |
H131L |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,844,675 (GRCm39) |
E1595K |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,925,290 (GRCm39) |
G41D |
probably damaging |
Het |
| Cyp2b23 |
C |
T |
7: 26,385,843 (GRCm39) |
V5I |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,915 (GRCm39) |
V22A |
possibly damaging |
Het |
| Ddi1 |
T |
C |
9: 6,266,012 (GRCm39) |
Y119C |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,083,923 (GRCm39) |
L785P |
probably damaging |
Het |
| Eqtn |
T |
A |
4: 94,816,587 (GRCm39) |
T69S |
possibly damaging |
Het |
| F11 |
T |
A |
8: 45,694,617 (GRCm39) |
K581N |
probably damaging |
Het |
| Gli2 |
G |
A |
1: 118,782,290 (GRCm39) |
P172S |
probably damaging |
Het |
| Gm7579 |
G |
T |
7: 141,765,603 (GRCm39) |
C3F |
unknown |
Het |
| Grin2a |
A |
G |
16: 9,481,194 (GRCm39) |
V501A |
possibly damaging |
Het |
| Grk4 |
G |
A |
5: 34,831,901 (GRCm39) |
D57N |
probably damaging |
Het |
| Gsdma |
A |
T |
11: 98,557,319 (GRCm39) |
D86V |
probably damaging |
Het |
| Gsx1 |
A |
G |
5: 147,126,738 (GRCm39) |
E187G |
probably damaging |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,537 (GRCm39) |
D176G |
probably damaging |
Het |
| Inpp5k |
T |
A |
11: 75,524,307 (GRCm39) |
F75L |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,326,620 (GRCm39) |
V114A |
possibly damaging |
Het |
| Izumo3 |
A |
T |
4: 92,032,977 (GRCm39) |
C130S |
probably damaging |
Het |
| Mei4 |
G |
A |
9: 81,809,639 (GRCm39) |
E241K |
possibly damaging |
Het |
| Mocs2 |
T |
C |
13: 114,961,120 (GRCm39) |
V39A |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,974,572 (GRCm39) |
R1184H |
probably benign |
Het |
| Msh3 |
T |
C |
13: 92,436,783 (GRCm39) |
Q509R |
probably null |
Het |
| Myh8 |
T |
C |
11: 67,192,497 (GRCm39) |
W1459R |
probably damaging |
Het |
| Mypop |
T |
A |
7: 18,734,918 (GRCm39) |
|
probably benign |
Het |
| Ndc1 |
C |
A |
4: 107,225,293 (GRCm39) |
T3K |
probably damaging |
Het |
| Nf1 |
A |
C |
11: 79,331,749 (GRCm39) |
M695L |
probably benign |
Het |
| Nup50l |
A |
G |
6: 96,141,793 (GRCm39) |
M417T |
probably benign |
Het |
| Nutm2 |
C |
A |
13: 50,623,955 (GRCm39) |
D217E |
possibly damaging |
Het |
| Or52a20 |
T |
C |
7: 103,365,858 (GRCm39) |
I19T |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,562,994 (GRCm39) |
T109A |
probably benign |
Het |
| Pde6c |
C |
A |
19: 38,129,940 (GRCm39) |
D283E |
probably damaging |
Het |
| Phldb2 |
A |
G |
16: 45,591,142 (GRCm39) |
|
probably benign |
Het |
| Pigt |
G |
C |
2: 164,349,419 (GRCm39) |
R574P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,796,500 (GRCm39) |
I2354T |
possibly damaging |
Het |
| Prdm15 |
T |
C |
16: 97,640,506 (GRCm39) |
E27G |
probably damaging |
Het |
| Ptpn14 |
A |
G |
1: 189,597,709 (GRCm39) |
I1140V |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,974,891 (GRCm39) |
V9A |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,519,071 (GRCm39) |
S258P |
probably damaging |
Het |
| Rnf17 |
G |
T |
14: 56,730,822 (GRCm39) |
G1209C |
probably damaging |
Het |
| S1pr4 |
C |
T |
10: 81,335,225 (GRCm39) |
|
probably null |
Het |
| Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
| Serpinb1b |
T |
A |
13: 33,277,646 (GRCm39) |
V293E |
possibly damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,222,112 (GRCm39) |
|
probably null |
Het |
| Sez6l |
A |
C |
5: 112,622,915 (GRCm39) |
I212S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
| Spag9 |
G |
A |
11: 93,939,365 (GRCm39) |
R98H |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,511 (GRCm39) |
H556Q |
possibly damaging |
Het |
| St3gal5 |
T |
C |
6: 72,119,272 (GRCm39) |
L128P |
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,059,166 (GRCm39) |
M510L |
probably benign |
Het |
| Stxbp5l |
A |
G |
16: 37,028,473 (GRCm39) |
V530A |
probably benign |
Het |
| Tatdn1 |
A |
G |
15: 58,793,039 (GRCm39) |
|
probably benign |
Het |
| Tmem199 |
A |
T |
11: 78,399,152 (GRCm39) |
M175K |
possibly damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,764 (GRCm39) |
E54G |
probably benign |
Het |
| Usp37 |
G |
T |
1: 74,532,163 (GRCm39) |
Q77K |
possibly damaging |
Het |
| Vezf1 |
A |
G |
11: 87,967,125 (GRCm39) |
I301V |
possibly damaging |
Het |
| Vmn1r34 |
T |
G |
6: 66,613,932 (GRCm39) |
M269L |
probably benign |
Het |
| Wdr93 |
C |
A |
7: 79,421,257 (GRCm39) |
|
probably null |
Het |
| Wnk2 |
T |
C |
13: 49,214,370 (GRCm39) |
D644G |
probably damaging |
Het |
| Zc3h13 |
C |
T |
14: 75,574,923 (GRCm39) |
R1591* |
probably null |
Het |
| Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
| Zfp180 |
T |
A |
7: 23,804,049 (GRCm39) |
V156D |
probably benign |
Het |
| Zfp646 |
G |
T |
7: 127,479,359 (GRCm39) |
|
probably null |
Het |
| Zscan12 |
C |
A |
13: 21,550,813 (GRCm39) |
T144K |
probably benign |
Het |
|
| Other mutations in Tbc1d8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Tbc1d8
|
APN |
1 |
39,433,210 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01501:Tbc1d8
|
APN |
1 |
39,428,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Tbc1d8
|
APN |
1 |
39,420,385 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01884:Tbc1d8
|
APN |
1 |
39,415,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01919:Tbc1d8
|
APN |
1 |
39,431,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Tbc1d8
|
APN |
1 |
39,419,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02123:Tbc1d8
|
APN |
1 |
39,415,988 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02135:Tbc1d8
|
APN |
1 |
39,441,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02317:Tbc1d8
|
APN |
1 |
39,415,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02325:Tbc1d8
|
APN |
1 |
39,433,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02607:Tbc1d8
|
APN |
1 |
39,418,592 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0533:Tbc1d8
|
UTSW |
1 |
39,411,855 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0604:Tbc1d8
|
UTSW |
1 |
39,444,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Tbc1d8
|
UTSW |
1 |
39,411,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0639:Tbc1d8
|
UTSW |
1 |
39,430,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0976:Tbc1d8
|
UTSW |
1 |
39,445,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1051:Tbc1d8
|
UTSW |
1 |
39,420,534 (GRCm39) |
nonsense |
probably null |
|
|
R1622:Tbc1d8
|
UTSW |
1 |
39,419,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1710:Tbc1d8
|
UTSW |
1 |
39,445,918 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2419:Tbc1d8
|
UTSW |
1 |
39,415,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Tbc1d8
|
UTSW |
1 |
39,444,368 (GRCm39) |
splice site |
probably null |
|
|
R2862:Tbc1d8
|
UTSW |
1 |
39,441,777 (GRCm39) |
nonsense |
probably null |
|
|
R2870:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2873:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2874:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3759:Tbc1d8
|
UTSW |
1 |
39,415,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Tbc1d8
|
UTSW |
1 |
39,411,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4154:Tbc1d8
|
UTSW |
1 |
39,425,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4613:Tbc1d8
|
UTSW |
1 |
39,411,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4737:Tbc1d8
|
UTSW |
1 |
39,441,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4738:Tbc1d8
|
UTSW |
1 |
39,441,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4739:Tbc1d8
|
UTSW |
1 |
39,441,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4740:Tbc1d8
|
UTSW |
1 |
39,441,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5189:Tbc1d8
|
UTSW |
1 |
39,424,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5271:Tbc1d8
|
UTSW |
1 |
39,412,848 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5308:Tbc1d8
|
UTSW |
1 |
39,428,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5393:Tbc1d8
|
UTSW |
1 |
39,465,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5529:Tbc1d8
|
UTSW |
1 |
39,411,836 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5897:Tbc1d8
|
UTSW |
1 |
39,431,190 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6160:Tbc1d8
|
UTSW |
1 |
39,411,484 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6408:Tbc1d8
|
UTSW |
1 |
39,441,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6409:Tbc1d8
|
UTSW |
1 |
39,411,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6554:Tbc1d8
|
UTSW |
1 |
39,445,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Tbc1d8
|
UTSW |
1 |
39,428,455 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7282:Tbc1d8
|
UTSW |
1 |
39,411,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7294:Tbc1d8
|
UTSW |
1 |
39,445,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Tbc1d8
|
UTSW |
1 |
39,433,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7718:Tbc1d8
|
UTSW |
1 |
39,416,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7881:Tbc1d8
|
UTSW |
1 |
39,425,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7918:Tbc1d8
|
UTSW |
1 |
39,441,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7972:Tbc1d8
|
UTSW |
1 |
39,431,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8269:Tbc1d8
|
UTSW |
1 |
39,465,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8352:Tbc1d8
|
UTSW |
1 |
39,444,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Tbc1d8
|
UTSW |
1 |
39,420,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8452:Tbc1d8
|
UTSW |
1 |
39,444,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Tbc1d8
|
UTSW |
1 |
39,444,474 (GRCm39) |
missense |
|
|
|
R9712:Tbc1d8
|
UTSW |
1 |
39,424,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGTAACAGACTCGTTGCACACCC -3'
(R):5'- TAGGTTTAACTGACACGCGGTGCTC -3'
Sequencing Primer
(F):5'- GTTGCACACCCGGAAACC -3'
(R):5'- TCCTCTCTTGGACTTGTAGGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation