Incidental Mutation 'R5308:Tbc1d8'
ID |
434453 |
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 |
042891-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5308 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39428490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 485
(Y485C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000192531]
[ENSMUST00000193823]
|
AlphaFold |
Q9Z1A9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054462
AA Change: Y485C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000049967 Gene: ENSMUSG00000003134 AA Change: Y485C
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 damaging
Transcript: ENSMUST00000193823
AA Change: Y485C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141750 Gene: ENSMUSG00000003134 AA Change: Y485C
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 97.7%
- 10x: 95.4%
- 20x: 91.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
4921504E06Rik |
T |
C |
2: 19,528,892 (GRCm39) |
D163G |
probably damaging |
Het |
Abcd4 |
C |
T |
12: 84,650,067 (GRCm39) |
|
probably null |
Het |
Alg9 |
T |
C |
9: 50,734,011 (GRCm39) |
S570P |
possibly damaging |
Het |
Angptl3 |
C |
A |
4: 98,922,723 (GRCm39) |
H255N |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Cdc37 |
A |
T |
9: 21,052,060 (GRCm39) |
D326E |
probably benign |
Het |
Cdk13 |
T |
C |
13: 17,946,898 (GRCm39) |
K6R |
probably damaging |
Het |
Ces1b |
T |
C |
8: 93,793,645 (GRCm39) |
K315E |
probably benign |
Het |
Cfap61 |
G |
A |
2: 145,951,908 (GRCm39) |
G190S |
probably damaging |
Het |
Cimap3 |
T |
C |
3: 105,908,419 (GRCm39) |
T107A |
probably benign |
Het |
Ckap4 |
T |
C |
10: 84,364,238 (GRCm39) |
E275G |
probably benign |
Het |
Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
Csf3r |
A |
G |
4: 125,929,137 (GRCm39) |
D349G |
probably benign |
Het |
Cyp2d37-ps |
T |
C |
15: 82,574,012 (GRCm39) |
|
noncoding transcript |
Het |
Dmbt1 |
T |
A |
7: 130,642,751 (GRCm39) |
C190S |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,049,415 (GRCm39) |
F1670L |
possibly damaging |
Het |
Dnah5 |
A |
T |
15: 28,229,797 (GRCm39) |
I144F |
possibly damaging |
Het |
Eno2 |
C |
A |
6: 124,744,056 (GRCm39) |
V84L |
probably damaging |
Het |
Ercc4 |
G |
T |
16: 12,948,028 (GRCm39) |
R325L |
probably damaging |
Het |
Fcgr2b |
T |
G |
1: 170,793,279 (GRCm39) |
Q250P |
probably benign |
Het |
Garin5a |
T |
C |
7: 44,149,606 (GRCm39) |
V109A |
probably damaging |
Het |
Garre1 |
T |
A |
7: 33,945,180 (GRCm39) |
K355* |
probably null |
Het |
Gcfc2 |
T |
C |
6: 81,920,524 (GRCm39) |
|
probably null |
Het |
Glb1l2 |
C |
T |
9: 26,676,055 (GRCm39) |
G509D |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Grn |
A |
G |
11: 102,327,018 (GRCm39) |
N160D |
possibly damaging |
Het |
Hexd |
T |
A |
11: 121,113,095 (GRCm39) |
V510D |
probably damaging |
Het |
Igfbp1 |
G |
A |
11: 7,149,919 (GRCm39) |
|
probably null |
Het |
Itga11 |
T |
A |
9: 62,663,051 (GRCm39) |
M589K |
probably benign |
Het |
Itpr1 |
A |
T |
6: 108,333,472 (GRCm39) |
S51C |
probably damaging |
Het |
Klra3 |
T |
C |
6: 130,311,270 (GRCm39) |
|
probably null |
Het |
Mad2l1 |
T |
C |
6: 66,514,675 (GRCm39) |
|
probably null |
Het |
Matn3 |
CGGGGCTCGGGGGC |
CGGGGC |
12: 9,002,308 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
A |
9: 59,771,244 (GRCm39) |
Y939N |
probably damaging |
Het |
Nxpe3 |
C |
T |
16: 55,686,834 (GRCm39) |
S58N |
probably benign |
Het |
Or1j16 |
T |
A |
2: 36,530,706 (GRCm39) |
Y218* |
probably null |
Het |
Or3a1c |
T |
A |
11: 74,046,397 (GRCm39) |
M139K |
probably damaging |
Het |
Or4c103 |
T |
C |
2: 88,513,749 (GRCm39) |
E109G |
probably benign |
Het |
Or4k45 |
C |
T |
2: 111,394,899 (GRCm39) |
A297T |
probably damaging |
Het |
Paics |
T |
C |
5: 77,104,479 (GRCm39) |
S35P |
probably damaging |
Het |
Pcnt |
A |
C |
10: 76,192,159 (GRCm39) |
Y2717* |
probably null |
Het |
Plekho2 |
T |
A |
9: 65,465,957 (GRCm39) |
N144Y |
probably damaging |
Het |
Plscr5 |
T |
C |
9: 92,080,565 (GRCm39) |
F17S |
possibly damaging |
Het |
Prrc2a |
C |
T |
17: 35,380,023 (GRCm39) |
R192H |
unknown |
Het |
Rbm27 |
T |
A |
18: 42,460,275 (GRCm39) |
M735K |
probably damaging |
Het |
Rfc1 |
T |
A |
5: 65,436,804 (GRCm39) |
K625N |
probably damaging |
Het |
Ric8b |
T |
A |
10: 84,783,611 (GRCm39) |
F156L |
probably benign |
Het |
Romo1 |
C |
A |
2: 155,986,473 (GRCm39) |
A32E |
possibly damaging |
Het |
Rpl26 |
T |
A |
11: 68,795,284 (GRCm39) |
Y135N |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,429,849 (GRCm39) |
V636A |
probably benign |
Het |
Scyl2 |
A |
T |
10: 89,477,869 (GRCm39) |
I710N |
probably benign |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc4a1 |
T |
A |
11: 102,249,903 (GRCm39) |
I154F |
probably damaging |
Het |
Snx11 |
A |
G |
11: 96,661,535 (GRCm39) |
S157P |
probably damaging |
Het |
Snx18 |
G |
A |
13: 113,753,383 (GRCm39) |
Q517* |
probably null |
Het |
Stard4 |
G |
T |
18: 33,336,678 (GRCm39) |
N212K |
probably damaging |
Het |
Strn3 |
A |
G |
12: 51,676,168 (GRCm39) |
Y454H |
probably damaging |
Het |
Stx17 |
A |
T |
4: 48,182,851 (GRCm39) |
|
probably benign |
Het |
Tas2r121 |
G |
A |
6: 132,677,480 (GRCm39) |
T164I |
possibly damaging |
Het |
Tmem45b |
T |
C |
9: 31,340,380 (GRCm39) |
M8V |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,948,501 (GRCm39) |
F844L |
probably damaging |
Het |
Usp32 |
T |
A |
11: 84,908,544 (GRCm39) |
N1054I |
probably benign |
Het |
Xpa |
T |
A |
4: 46,185,659 (GRCm39) |
E106D |
probably benign |
Het |
Zfp85 |
C |
T |
13: 67,896,974 (GRCm39) |
C366Y |
probably damaging |
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 |
|
R1605:Tbc1d8
|
UTSW |
1 |
39,430,206 (GRCm39) |
missense |
probably benign |
0.38 |
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 |
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'- TGGTGGTTTACAGAAACAATCCTG -3'
(R):5'- GATTCTTTATGCCTGGCAGCG -3'
Sequencing Primer
(F):5'- ATCCTGACATGCTGCTCACAGG -3'
(R):5'- CAGCGGCTCATACGTGTTG -3'
|
Posted On |
2016-10-06 |