Incidental Mutation 'R6841:Tbc1d8'
| ID |
537994 |
| 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 |
044947-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6841 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39428455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 497
(I497V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000192531]
[ENSMUST00000193823]
|
| AlphaFold |
Q9Z1A9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054462
AA Change: I497V
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: I497V
| 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 |
possibly damaging
Transcript: ENSMUST00000193823
AA Change: I497V
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: I497V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
99% (71/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
G |
A |
11: 6,150,439 (GRCm39) |
W137* |
probably null |
Het |
| Acads |
G |
A |
5: 115,250,417 (GRCm39) |
T169I |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,570,787 (GRCm39) |
N414Y |
probably damaging |
Het |
| Ankrd35 |
T |
A |
3: 96,577,742 (GRCm39) |
S6T |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,206,630 (GRCm39) |
|
probably null |
Het |
| Atp9a |
C |
A |
2: 168,496,140 (GRCm39) |
V555F |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,075,630 (GRCm39) |
Y3610C |
probably damaging |
Het |
| Cars2 |
C |
T |
8: 11,566,198 (GRCm39) |
V443I |
probably benign |
Het |
| Cblc |
A |
G |
7: 19,526,821 (GRCm39) |
L137P |
probably damaging |
Het |
| Ccdc198 |
T |
C |
14: 49,481,270 (GRCm39) |
|
probably null |
Het |
| Cdk5r1 |
T |
A |
11: 80,369,021 (GRCm39) |
C229* |
probably null |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,710,877 (GRCm39) |
Y2728C |
unknown |
Het |
| Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
| Cnot11 |
C |
T |
1: 39,579,148 (GRCm39) |
Q12* |
probably null |
Het |
| Commd6 |
A |
T |
14: 101,874,534 (GRCm39) |
D19E |
probably damaging |
Het |
| Crygc |
C |
T |
1: 65,112,361 (GRCm39) |
G71D |
possibly damaging |
Het |
| Cstf3 |
A |
G |
2: 104,486,076 (GRCm39) |
K439E |
probably benign |
Het |
| Cyp11b2 |
G |
T |
15: 74,727,340 (GRCm39) |
H114N |
probably benign |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,687 (GRCm39) |
D106G |
probably benign |
Het |
| Dhx8 |
T |
A |
11: 101,655,618 (GRCm39) |
V1117E |
probably damaging |
Het |
| Duoxa1 |
G |
T |
2: 122,134,462 (GRCm39) |
L219I |
probably damaging |
Het |
| Dynap |
A |
T |
18: 70,374,253 (GRCm39) |
I91N |
probably damaging |
Het |
| Elfn1 |
G |
T |
5: 139,958,900 (GRCm39) |
G635W |
probably damaging |
Het |
| Fan1 |
A |
T |
7: 64,014,377 (GRCm39) |
I618N |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,876,410 (GRCm39) |
D2381G |
probably damaging |
Het |
| Fxyd6 |
T |
A |
9: 45,302,851 (GRCm39) |
|
probably null |
Het |
| Gpr137b |
A |
T |
13: 13,538,094 (GRCm39) |
W286R |
probably damaging |
Het |
| Gpsm3 |
A |
T |
17: 34,809,536 (GRCm39) |
|
probably null |
Het |
| Has1 |
C |
T |
17: 18,064,122 (GRCm39) |
V506I |
probably benign |
Het |
| Hoxd10 |
T |
A |
2: 74,522,616 (GRCm39) |
V98D |
probably benign |
Het |
| Htr2b |
T |
A |
1: 86,027,615 (GRCm39) |
D297V |
probably benign |
Het |
| Hydin |
G |
C |
8: 111,265,007 (GRCm39) |
R2730P |
probably benign |
Het |
| I830077J02Rik |
T |
C |
3: 105,833,830 (GRCm39) |
N109D |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,922,263 (GRCm39) |
F1284I |
probably damaging |
Het |
| Ildr2 |
C |
G |
1: 166,098,144 (GRCm39) |
D167E |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,314,046 (GRCm39) |
D949G |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,564,030 (GRCm39) |
F895L |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,153 (GRCm39) |
N27S |
probably damaging |
Het |
| Klra4 |
C |
A |
6: 130,042,162 (GRCm39) |
R35L |
probably benign |
Het |
| Map3k2 |
T |
A |
18: 32,359,682 (GRCm39) |
C512S |
probably benign |
Het |
| Mertk |
A |
G |
2: 128,601,150 (GRCm39) |
|
probably null |
Het |
| Mgat2 |
T |
A |
12: 69,232,407 (GRCm39) |
I327N |
probably damaging |
Het |
| Mogat1 |
T |
C |
1: 78,499,496 (GRCm39) |
I59T |
probably damaging |
Het |
| Mrpl2 |
A |
T |
17: 46,958,382 (GRCm39) |
M55L |
probably benign |
Het |
| Nxpe3 |
T |
C |
16: 55,664,685 (GRCm39) |
M512V |
possibly damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,286,052 (GRCm39) |
L769P |
probably damaging |
Het |
| Pcmtd2 |
T |
G |
2: 181,486,231 (GRCm39) |
V117G |
probably damaging |
Het |
| Pdia2 |
A |
T |
17: 26,415,578 (GRCm39) |
|
probably null |
Het |
| Repin1 |
A |
T |
6: 48,574,859 (GRCm39) |
Q593L |
possibly damaging |
Het |
| Rnf213 |
C |
T |
11: 119,340,692 (GRCm39) |
T3517I |
probably benign |
Het |
| Rxfp2 |
A |
T |
5: 149,942,210 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,785,968 (GRCm39) |
L138P |
probably damaging |
Het |
| Slc35a3 |
T |
A |
3: 116,506,417 (GRCm39) |
Q5L |
probably null |
Het |
| Stab2 |
T |
A |
10: 86,778,054 (GRCm39) |
N758I |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,908,658 (GRCm39) |
I557N |
probably damaging |
Het |
| Ticam2 |
A |
C |
18: 46,693,998 (GRCm39) |
S30A |
probably benign |
Het |
| Timp3 |
T |
C |
10: 86,181,638 (GRCm39) |
S170P |
possibly damaging |
Het |
| Top1mt |
C |
T |
15: 75,547,973 (GRCm39) |
E38K |
probably benign |
Het |
| Tpp1 |
G |
A |
7: 105,398,171 (GRCm39) |
L331F |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,654,941 (GRCm39) |
D1332E |
probably benign |
Het |
| Ttc23 |
A |
G |
7: 67,319,476 (GRCm39) |
E112G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,715,296 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,726,934 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,850,969 (GRCm39) |
C1796S |
probably damaging |
Het |
| Ugt2b34 |
C |
T |
5: 87,040,675 (GRCm39) |
V416I |
probably benign |
Het |
| Uqcrb |
A |
G |
13: 67,048,827 (GRCm39) |
|
probably benign |
Het |
| Vps26b |
A |
G |
9: 26,921,760 (GRCm39) |
L255P |
probably benign |
Het |
| Wdr59 |
A |
G |
8: 112,223,512 (GRCm39) |
V154A |
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 |
|
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'- GTCACTGCTCTGGACCTCATAC -3'
(R):5'- CTGTTGGTCCCTGATAAACTGAG -3'
Sequencing Primer
(F):5'- TCATACTTCCTGAGGGGGAC -3'
(R):5'- GGTCCCTGATAAACTGAGACATTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation