Incidental Mutation 'R7282:Tbc1d8'
| ID |
565688 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39411614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1074
(D1074G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000086535]
[ENSMUST00000178079]
[ENSMUST00000179954]
[ENSMUST00000192531]
[ENSMUST00000193823]
[ENSMUST00000194746]
[ENSMUST00000195123]
|
| AlphaFold |
Q9Z1A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054462
AA Change: D1074G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: D1074G
| 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 |
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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
C |
A |
11: 58,316,582 (GRCm39) |
D187E |
probably damaging |
Het |
| Abl2 |
T |
C |
1: 156,457,630 (GRCm39) |
Y299H |
probably damaging |
Het |
| Acsl3 |
T |
A |
1: 78,659,709 (GRCm39) |
N120K |
probably damaging |
Het |
| Aldh1a1 |
A |
G |
19: 20,606,434 (GRCm39) |
K255R |
possibly damaging |
Het |
| Baz2b |
C |
T |
2: 59,750,781 (GRCm39) |
R1205H |
probably benign |
Het |
| Btbd8 |
G |
T |
5: 107,655,062 (GRCm39) |
V954L |
probably benign |
Het |
| Btbd8 |
A |
G |
5: 107,658,371 (GRCm39) |
D1647G |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,197,387 (GRCm39) |
S1350P |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,738,582 (GRCm39) |
N325I |
|
Het |
| Cep120 |
C |
T |
18: 53,873,161 (GRCm39) |
A57T |
probably damaging |
Het |
| Chst8 |
T |
C |
7: 34,447,628 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
T |
6: 106,502,421 (GRCm39) |
I393F |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,749,652 (GRCm39) |
D1494G |
probably damaging |
Het |
| Cwc25 |
T |
C |
11: 97,638,832 (GRCm39) |
E364G |
possibly damaging |
Het |
| Dnah7a |
C |
A |
1: 53,724,059 (GRCm39) |
|
probably null |
Het |
| Drg2 |
A |
G |
11: 60,345,519 (GRCm39) |
E5G |
probably benign |
Het |
| Ehd4 |
T |
C |
2: 119,921,729 (GRCm39) |
H509R |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,650,186 (GRCm39) |
N565I |
probably damaging |
Het |
| Evi2a |
G |
T |
11: 79,418,249 (GRCm39) |
N120K |
probably benign |
Het |
| Faim |
A |
G |
9: 98,874,179 (GRCm39) |
T2A |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,833 (GRCm39) |
N907S |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,087,091 (GRCm39) |
V836A |
unknown |
Het |
| Fosb |
T |
C |
7: 19,039,113 (GRCm39) |
I224V |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,338,660 (GRCm39) |
T318S |
probably damaging |
Het |
| Gm9972 |
G |
A |
11: 42,927,631 (GRCm39) |
G93R |
unknown |
Het |
| Gtf2a1 |
A |
T |
12: 91,534,609 (GRCm39) |
I215N |
possibly damaging |
Het |
| Hs3st3b1 |
A |
G |
11: 63,812,397 (GRCm39) |
V106A |
probably benign |
Het |
| Igkv19-93 |
T |
C |
6: 68,713,485 (GRCm39) |
D48G |
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,201,443 (GRCm39) |
W31R |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,751,985 (GRCm39) |
W1995R |
unknown |
Het |
| Lama3 |
G |
T |
18: 12,572,449 (GRCm39) |
Q551H |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,588 (GRCm39) |
Y453C |
probably damaging |
Het |
| Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,271 (GRCm39) |
V384A |
probably damaging |
Het |
| Lgsn |
T |
G |
1: 31,242,452 (GRCm39) |
L178R |
probably damaging |
Het |
| Lhcgr |
C |
T |
17: 89,065,811 (GRCm39) |
V193I |
probably benign |
Het |
| Lta4h |
T |
C |
10: 93,289,373 (GRCm39) |
M1T |
probably null |
Het |
| Ly6l |
T |
C |
15: 75,321,345 (GRCm39) |
S14P |
probably damaging |
Het |
| Met |
C |
A |
6: 17,547,011 (GRCm39) |
C881* |
probably null |
Het |
| Mettl21e |
A |
T |
1: 44,249,399 (GRCm39) |
Y86N |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,633,446 (GRCm39) |
N251Y |
possibly damaging |
Het |
| Mgam |
A |
G |
6: 40,740,045 (GRCm39) |
T1673A |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,578,231 (GRCm39) |
V357D |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,306,481 (GRCm39) |
E740G |
|
Het |
| Myoc |
C |
A |
1: 162,476,413 (GRCm39) |
S372R |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,097,104 (GRCm39) |
M1358K |
|
Het |
| Nol6 |
A |
G |
4: 41,119,468 (GRCm39) |
S613P |
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,855,072 (GRCm39) |
I334N |
probably damaging |
Het |
| Nxnl2 |
C |
T |
13: 51,325,542 (GRCm39) |
P62S |
probably damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,764,067 (GRCm39) |
H51Y |
possibly damaging |
Het |
| Olfml1 |
T |
A |
7: 107,189,530 (GRCm39) |
D198E |
possibly damaging |
Het |
| Or2t26 |
A |
C |
11: 49,039,945 (GRCm39) |
N287T |
probably damaging |
Het |
| Ovch2 |
C |
T |
7: 107,393,577 (GRCm39) |
R183H |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,937,798 (GRCm39) |
L1516Q |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,451 (GRCm39) |
N237S |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,507,543 (GRCm39) |
V2448A |
possibly damaging |
Het |
| Rexo5 |
C |
T |
7: 119,417,636 (GRCm39) |
T212I |
probably damaging |
Het |
| Rgl2 |
C |
T |
17: 34,152,403 (GRCm39) |
R367W |
probably damaging |
Het |
| Rnf213 |
T |
G |
11: 119,328,818 (GRCm39) |
I2030S |
|
Het |
| Rtf1 |
C |
T |
2: 119,505,580 (GRCm39) |
A11V |
unknown |
Het |
| Setdb1 |
T |
G |
3: 95,245,985 (GRCm39) |
T647P |
probably damaging |
Het |
| Shisa6 |
G |
C |
11: 66,393,480 (GRCm39) |
P272R |
possibly damaging |
Het |
| Slc25a54 |
G |
T |
3: 109,023,817 (GRCm39) |
G471* |
probably null |
Het |
| Slc30a1 |
A |
G |
1: 191,641,544 (GRCm39) |
T397A |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,281,302 (GRCm39) |
F336S |
possibly damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,957,798 (GRCm39) |
V325I |
possibly damaging |
Het |
| Sptan1 |
A |
G |
2: 29,876,941 (GRCm39) |
Y361C |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,984 (GRCm39) |
D1747G |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,956,253 (GRCm39) |
E638G |
probably damaging |
Het |
| Tecrl |
G |
A |
5: 83,502,754 (GRCm39) |
H32Y |
probably benign |
Het |
| Tgm3 |
T |
A |
2: 129,866,481 (GRCm39) |
M133K |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,880,685 (GRCm39) |
F195S |
probably damaging |
Het |
| Tmem82 |
T |
C |
4: 141,342,261 (GRCm39) |
I314V |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,043,327 (GRCm39) |
E555G |
probably damaging |
Het |
| Ubn2 |
A |
T |
6: 38,429,811 (GRCm39) |
K176* |
probably null |
Het |
| Ucp1 |
G |
A |
8: 84,020,531 (GRCm39) |
G114R |
probably benign |
Het |
| Unc5c |
A |
G |
3: 141,383,751 (GRCm39) |
D43G |
probably damaging |
Het |
| Vmn2r3 |
C |
T |
3: 64,168,825 (GRCm39) |
V571M |
possibly damaging |
Het |
| Vwa3a |
A |
T |
7: 120,385,688 (GRCm39) |
I677L |
probably benign |
Het |
| Wdr48 |
T |
C |
9: 119,740,147 (GRCm39) |
S319P |
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 |
|
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 |
|
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'- TGTGTTCTCCAGCAGCTCAG -3'
(R):5'- AATGACCTGTATCAAGCCATTGC -3'
Sequencing Primer
(F):5'- GCCTACAGGTCATTGAGCTTCAG -3'
(R):5'- TGTATCAAGCCATTGCCACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation