Incidental Mutation 'R0612:Tbc1d8'
ID |
54772 |
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 |
038801-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0612 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39411596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1080
(E1080G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049967
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000086535]
[ENSMUST00000178079]
[ENSMUST00000179954]
[ENSMUST00000192531]
[ENSMUST00000195123]
[ENSMUST00000194746]
[ENSMUST00000193823]
|
AlphaFold |
Q9Z1A9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054462
AA Change: E1080G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049967 Gene: ENSMUSG00000003134 AA Change: E1080G
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: 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 |
|
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 |
|
Meta Mutation Damage Score |
0.3678 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 93.5%
|
Validation Efficiency |
98% (92/94) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,936,478 (GRCm39) |
L181P |
probably damaging |
Het |
Aldh3a1 |
A |
T |
11: 61,105,445 (GRCm39) |
I184F |
probably damaging |
Het |
Arl6ip4 |
A |
G |
5: 124,254,596 (GRCm39) |
S30G |
probably benign |
Het |
Atp9b |
T |
C |
18: 80,797,171 (GRCm39) |
E891G |
possibly damaging |
Het |
Brsk1 |
T |
C |
7: 4,710,425 (GRCm39) |
L478P |
possibly damaging |
Het |
Btaf1 |
G |
A |
19: 36,946,537 (GRCm39) |
V448I |
probably damaging |
Het |
Cab39 |
T |
C |
1: 85,746,236 (GRCm39) |
|
probably null |
Het |
Cacna2d4 |
G |
T |
6: 119,258,679 (GRCm39) |
|
probably benign |
Het |
Capzb |
C |
T |
4: 139,018,340 (GRCm39) |
S253L |
probably benign |
Het |
Ccdc174 |
A |
G |
6: 91,867,873 (GRCm39) |
|
probably benign |
Het |
Ccdc180 |
C |
T |
4: 45,927,969 (GRCm39) |
A1168V |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,820,900 (GRCm39) |
|
probably benign |
Het |
Cdh8 |
T |
C |
8: 100,127,546 (GRCm39) |
T22A |
probably benign |
Het |
Cdk10 |
T |
C |
8: 123,957,419 (GRCm39) |
V181A |
probably benign |
Het |
Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
Cftr |
A |
C |
6: 18,198,125 (GRCm39) |
T20P |
probably benign |
Het |
Cip2a |
C |
T |
16: 48,819,402 (GRCm39) |
A112V |
probably benign |
Het |
Clstn3 |
T |
C |
6: 124,426,459 (GRCm39) |
T576A |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,516,003 (GRCm39) |
V165I |
unknown |
Het |
Copg2 |
A |
T |
6: 30,838,404 (GRCm39) |
|
probably null |
Het |
Cps1 |
A |
G |
1: 67,178,929 (GRCm39) |
H47R |
probably benign |
Het |
Cytip |
T |
C |
2: 58,024,202 (GRCm39) |
D206G |
possibly damaging |
Het |
Dcaf8l |
G |
A |
X: 88,448,972 (GRCm39) |
R386* |
probably null |
Het |
Dnmt1 |
C |
T |
9: 20,829,489 (GRCm39) |
E824K |
probably damaging |
Het |
Dock7 |
A |
C |
4: 98,877,470 (GRCm39) |
V442G |
probably benign |
Het |
Dsc1 |
T |
G |
18: 20,247,573 (GRCm39) |
K14T |
probably damaging |
Het |
Dync1h1 |
C |
T |
12: 110,582,930 (GRCm39) |
P371L |
probably damaging |
Het |
Enah |
A |
G |
1: 181,734,013 (GRCm39) |
|
probably benign |
Het |
Entrep2 |
C |
T |
7: 64,411,549 (GRCm39) |
V395M |
probably benign |
Het |
Fastkd1 |
T |
C |
2: 69,542,727 (GRCm39) |
T27A |
probably benign |
Het |
Fcho1 |
A |
G |
8: 72,168,168 (GRCm39) |
L248P |
probably damaging |
Het |
Fezf1 |
A |
T |
6: 23,247,028 (GRCm39) |
V268D |
probably damaging |
Het |
Fgd2 |
T |
A |
17: 29,597,321 (GRCm39) |
V547E |
probably benign |
Het |
Flnb |
T |
A |
14: 7,887,682 (GRCm38) |
|
probably benign |
Het |
Gabrg3 |
A |
G |
7: 56,379,454 (GRCm39) |
M316T |
probably damaging |
Het |
Gigyf2 |
T |
C |
1: 87,376,802 (GRCm39) |
F1265L |
probably damaging |
Het |
Git2 |
A |
G |
5: 114,890,342 (GRCm39) |
S271P |
probably damaging |
Het |
Gorab |
T |
C |
1: 163,224,738 (GRCm39) |
D21G |
possibly damaging |
Het |
Gpr179 |
T |
A |
11: 97,229,264 (GRCm39) |
T964S |
possibly damaging |
Het |
Hdac5 |
A |
G |
11: 102,087,078 (GRCm39) |
V1042A |
possibly damaging |
Het |
Hoxa2 |
T |
A |
6: 52,140,540 (GRCm39) |
T149S |
probably damaging |
Het |
Igsf8 |
G |
T |
1: 172,146,974 (GRCm39) |
*108L |
probably null |
Het |
Il1rap |
C |
T |
16: 26,519,855 (GRCm39) |
T307M |
possibly damaging |
Het |
Itih2 |
T |
C |
2: 10,122,205 (GRCm39) |
D232G |
probably benign |
Het |
Jak3 |
A |
G |
8: 72,136,021 (GRCm39) |
Y607C |
probably damaging |
Het |
Kcnh1 |
C |
T |
1: 191,959,361 (GRCm39) |
P305L |
probably damaging |
Het |
Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
Lrrn2 |
T |
C |
1: 132,865,466 (GRCm39) |
L177P |
probably damaging |
Het |
Lypd8l |
A |
G |
11: 58,502,799 (GRCm39) |
|
probably null |
Het |
Map4k3 |
C |
A |
17: 80,909,622 (GRCm39) |
K712N |
probably damaging |
Het |
Med11 |
A |
G |
11: 70,342,910 (GRCm39) |
T36A |
probably benign |
Het |
Mmp14 |
A |
G |
14: 54,677,891 (GRCm39) |
D504G |
probably damaging |
Het |
Mob1a |
A |
G |
6: 83,311,140 (GRCm39) |
T120A |
probably benign |
Het |
Mr1 |
T |
A |
1: 155,013,436 (GRCm39) |
D47V |
probably damaging |
Het |
Nacad |
G |
T |
11: 6,551,382 (GRCm39) |
A603E |
possibly damaging |
Het |
Nwd1 |
T |
A |
8: 73,394,308 (GRCm39) |
W524R |
probably damaging |
Het |
Or11g26 |
A |
T |
14: 50,752,939 (GRCm39) |
T93S |
probably benign |
Het |
Or13a19 |
T |
A |
7: 139,903,101 (GRCm39) |
M163K |
possibly damaging |
Het |
Or4e1 |
T |
C |
14: 52,701,008 (GRCm39) |
T153A |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pde6c |
T |
A |
19: 38,121,694 (GRCm39) |
C101S |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pdlim4 |
G |
A |
11: 53,959,713 (GRCm39) |
R16C |
probably damaging |
Het |
Pfkp |
A |
G |
13: 6,655,670 (GRCm39) |
|
probably null |
Het |
Plcg2 |
T |
A |
8: 118,300,104 (GRCm39) |
S225T |
probably benign |
Het |
Pramel1 |
T |
C |
4: 143,124,101 (GRCm39) |
S259P |
probably damaging |
Het |
Pramel27 |
G |
T |
4: 143,578,658 (GRCm39) |
|
probably benign |
Het |
Rc3h2 |
T |
C |
2: 37,301,227 (GRCm39) |
N92D |
possibly damaging |
Het |
Ric8b |
C |
A |
10: 84,837,745 (GRCm39) |
N517K |
probably damaging |
Het |
Rnf34 |
G |
A |
5: 123,002,237 (GRCm39) |
R65H |
probably damaging |
Het |
Rraga |
C |
T |
4: 86,494,564 (GRCm39) |
R137C |
probably damaging |
Het |
Scube2 |
C |
T |
7: 109,403,971 (GRCm39) |
|
probably benign |
Het |
Slc28a2b |
T |
C |
2: 122,352,179 (GRCm39) |
M339T |
probably damaging |
Het |
Spata31d1d |
T |
C |
13: 59,875,787 (GRCm39) |
I583V |
probably benign |
Het |
Suox |
T |
C |
10: 128,506,525 (GRCm39) |
E501G |
probably benign |
Het |
Susd1 |
A |
G |
4: 59,390,561 (GRCm39) |
|
probably benign |
Het |
Tac1 |
T |
C |
6: 7,555,653 (GRCm39) |
S14P |
probably damaging |
Het |
Tll1 |
A |
C |
8: 64,524,344 (GRCm39) |
S447R |
possibly damaging |
Het |
Tmem132e |
G |
A |
11: 82,334,198 (GRCm39) |
V662M |
probably damaging |
Het |
Upf2 |
G |
T |
2: 6,038,909 (GRCm39) |
|
probably benign |
Het |
Uspl1 |
A |
G |
5: 149,151,767 (GRCm39) |
E989G |
probably damaging |
Het |
Vmn1r58 |
T |
C |
7: 5,413,618 (GRCm39) |
H204R |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,816,481 (GRCm39) |
C367S |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,623,803 (GRCm39) |
Q1240L |
probably benign |
Het |
Xrcc1 |
C |
T |
7: 24,269,744 (GRCm39) |
|
probably benign |
Het |
Yeats2 |
T |
G |
16: 20,005,175 (GRCm39) |
V385G |
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 |
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'- AGGGCAGACTCACTATCAGGATCAC -3'
(R):5'- ATTGCCACAGTAACCACTCTGCTAC -3'
Sequencing Primer
(F):5'- GGTCTCAGCAAAGTTGATAGTCAC -3'
(R):5'- TGCTCCCAAGAATGTGAGGA -3'
|
Posted On |
2013-07-11 |