Incidental Mutation 'R0533:Tbc1d8'
ID |
49296 |
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 |
038725-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0533 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 39411855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 994
(Q994K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049967
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000086535]
[ENSMUST00000178079]
[ENSMUST00000179954]
[ENSMUST00000192531]
[ENSMUST00000194746]
[ENSMUST00000193823]
[ENSMUST00000195123]
|
AlphaFold |
Q9Z1A9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054462
AA Change: Q994K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049967 Gene: ENSMUSG00000003134 AA Change: Q994K
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: ENSMUST00000086535
|
SMART Domains |
Protein: ENSMUSP00000083722 Gene: ENSMUSG00000073702
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L31e
|
18 |
101 |
3.1e-43 |
PFAM |
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178079
|
SMART Domains |
Protein: ENSMUSP00000136354 Gene: ENSMUSG00000073702
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L31e
|
18 |
101 |
3.1e-43 |
PFAM |
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179954
|
SMART Domains |
Protein: ENSMUSP00000137631 Gene: ENSMUSG00000073702
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L31e
|
18 |
101 |
3.1e-43 |
PFAM |
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191855
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192099
|
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: ENSMUST00000194746
|
SMART Domains |
Protein: ENSMUSP00000141808 Gene: ENSMUSG00000073702
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L31e
|
18 |
101 |
3.1e-40 |
PFAM |
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193823
|
SMART Domains |
Protein: ENSMUSP00000141750 Gene: ENSMUSG00000003134
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 |
probably benign
Transcript: ENSMUST00000195123
|
SMART Domains |
Protein: ENSMUSP00000142039 Gene: ENSMUSG00000073702
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L31e
|
18 |
83 |
7.9e-29 |
PFAM |
|
Meta Mutation Damage Score |
0.1255 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
G |
8: 60,984,797 (GRCm39) |
|
probably benign |
Het |
Abcb1b |
A |
T |
5: 8,914,113 (GRCm39) |
|
probably null |
Het |
Adcy10 |
A |
G |
1: 165,391,592 (GRCm39) |
N1283S |
probably benign |
Het |
Adgrb1 |
T |
A |
15: 74,413,408 (GRCm39) |
W531R |
probably damaging |
Het |
Ago4 |
A |
G |
4: 126,410,653 (GRCm39) |
V246A |
probably benign |
Het |
Arid5b |
A |
T |
10: 68,021,863 (GRCm39) |
D242E |
probably damaging |
Het |
Arpp21 |
A |
G |
9: 111,955,573 (GRCm39) |
V522A |
probably benign |
Het |
Atg4b |
T |
A |
1: 93,712,632 (GRCm39) |
|
probably benign |
Het |
Capn12 |
T |
C |
7: 28,587,108 (GRCm39) |
F359S |
possibly damaging |
Het |
Ccdc88c |
A |
T |
12: 100,920,541 (GRCm39) |
I360N |
probably damaging |
Het |
Clic3 |
A |
G |
2: 25,348,150 (GRCm39) |
Y99C |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,336,713 (GRCm39) |
E925G |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,852,314 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 118,001,363 (GRCm39) |
V860A |
possibly damaging |
Het |
Etv5 |
C |
T |
16: 22,254,825 (GRCm39) |
|
probably benign |
Het |
Fam83a |
T |
A |
15: 57,873,207 (GRCm39) |
N345K |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gpm6a |
A |
G |
8: 55,508,409 (GRCm39) |
|
probably null |
Het |
Grid1 |
T |
A |
14: 35,031,342 (GRCm39) |
Y312N |
possibly damaging |
Het |
Gstm4 |
T |
C |
3: 107,950,841 (GRCm39) |
N51S |
probably benign |
Het |
Hid1 |
A |
T |
11: 115,239,635 (GRCm39) |
I765N |
probably damaging |
Het |
Hmmr |
A |
G |
11: 40,600,816 (GRCm39) |
V518A |
unknown |
Het |
Itgb6 |
A |
G |
2: 60,499,541 (GRCm39) |
V84A |
probably benign |
Het |
Kbtbd4 |
A |
G |
2: 90,737,948 (GRCm39) |
K233E |
probably benign |
Het |
Kif15 |
A |
T |
9: 122,838,498 (GRCm39) |
|
probably benign |
Het |
Klre1 |
T |
C |
6: 129,560,156 (GRCm39) |
S143P |
probably damaging |
Het |
Krt81 |
T |
C |
15: 101,359,270 (GRCm39) |
D216G |
probably benign |
Het |
Mctp2 |
G |
T |
7: 71,730,570 (GRCm39) |
H868Q |
probably benign |
Het |
Morc2b |
G |
C |
17: 33,354,906 (GRCm39) |
Y955* |
probably null |
Het |
Myog |
A |
C |
1: 134,218,211 (GRCm39) |
N140H |
possibly damaging |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Neil3 |
A |
T |
8: 54,091,810 (GRCm39) |
|
probably null |
Het |
Nrg1 |
T |
C |
8: 32,321,273 (GRCm39) |
|
probably null |
Het |
Or1o4 |
A |
T |
17: 37,591,182 (GRCm39) |
L43* |
probably null |
Het |
Or56a3b |
G |
A |
7: 104,771,557 (GRCm39) |
V298I |
probably benign |
Het |
Or56b35 |
A |
T |
7: 104,963,579 (GRCm39) |
M123L |
probably benign |
Het |
Pramel16 |
A |
T |
4: 143,677,290 (GRCm39) |
D96E |
possibly damaging |
Het |
Pramel23 |
G |
T |
4: 143,424,590 (GRCm39) |
C284* |
probably null |
Het |
Ptger2 |
T |
A |
14: 45,226,439 (GRCm39) |
N6K |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,778,205 (GRCm39) |
E2097V |
probably damaging |
Het |
Sel1l |
A |
T |
12: 91,786,868 (GRCm39) |
F397Y |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,685,064 (GRCm39) |
V551A |
unknown |
Het |
Slc39a12 |
A |
G |
2: 14,405,142 (GRCm39) |
T245A |
probably benign |
Het |
Syne1 |
C |
T |
10: 5,308,438 (GRCm39) |
V706I |
probably benign |
Het |
Tnrc6b |
C |
T |
15: 80,760,854 (GRCm39) |
T187I |
probably benign |
Het |
Ttll6 |
G |
A |
11: 96,045,582 (GRCm39) |
A600T |
probably benign |
Het |
Ust |
T |
C |
10: 8,123,844 (GRCm39) |
|
probably benign |
Het |
Vmn2r71 |
GT |
GTT |
7: 85,268,426 (GRCm39) |
|
probably null |
Het |
Vstm2a |
C |
T |
11: 16,213,041 (GRCm39) |
A142V |
probably damaging |
Het |
Wfs1 |
T |
A |
5: 37,131,066 (GRCm39) |
|
probably benign |
Het |
Wrap73 |
G |
A |
4: 154,236,106 (GRCm39) |
G145D |
probably damaging |
Het |
Wrap73 |
G |
A |
4: 154,240,611 (GRCm39) |
V368M |
possibly damaging |
Het |
Xrra1 |
T |
A |
7: 99,524,352 (GRCm39) |
|
probably null |
Het |
Zfhx2 |
C |
T |
14: 55,301,547 (GRCm39) |
V2146I |
probably benign |
Het |
Zfp335 |
A |
T |
2: 164,749,842 (GRCm39) |
L185* |
probably null |
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 |
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 |
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'- TGACTGCTCAGTGAGAAGGGATGC -3'
(R):5'- TGCTTGTGGGACACAACTATCACC -3'
Sequencing Primer
(F):5'- GCAAAAACTGAGTCCTGTTCG -3'
(R):5'- CTATCACCCAGTGTTTACTGGAGAG -3'
|
Posted On |
2013-06-12 |