Incidental Mutation 'R7972:Tbc1d8'
| ID |
650635 |
| 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 |
046015-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7972 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39431250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 374
(F374S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000192531]
[ENSMUST00000193823]
|
| AlphaFold |
Q9Z1A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054462
AA Change: F374S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: F374S
| 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: F374S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: F374S
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,320,287 (GRCm39) |
V384E |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,364,918 (GRCm39) |
R1533* |
probably null |
Het |
| Alox12 |
T |
A |
11: 70,133,513 (GRCm39) |
M604L |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Brdt |
A |
T |
5: 107,496,415 (GRCm39) |
I176F |
possibly damaging |
Het |
| Cdk5 |
G |
T |
5: 24,624,656 (GRCm39) |
T245K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,732,395 (GRCm39) |
R1304S |
unknown |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,185,871 (GRCm39) |
E438V |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,803,949 (GRCm39) |
V92A |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fam184a |
A |
T |
10: 53,514,355 (GRCm39) |
L1022Q |
probably damaging |
Het |
| Foxd4 |
T |
C |
19: 24,877,594 (GRCm39) |
H202R |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,233,861 (GRCm39) |
V16A |
probably benign |
Het |
| Gstcd |
A |
T |
3: 132,777,894 (GRCm39) |
F306I |
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,899,977 (GRCm39) |
S113P |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,954,711 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Hoxd12 |
G |
T |
2: 74,506,269 (GRCm39) |
R227L |
probably damaging |
Het |
| Ifi208 |
T |
A |
1: 173,506,556 (GRCm39) |
M113K |
possibly damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,802 (GRCm39) |
M427K |
probably damaging |
Het |
| Kcnh4 |
T |
G |
11: 100,643,278 (GRCm39) |
T330P |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
G |
A |
4: 133,733,574 (GRCm39) |
P158S |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,557,060 (GRCm39) |
E3078* |
probably null |
Het |
| Naaladl1 |
A |
G |
19: 6,156,274 (GRCm39) |
N120S |
probably damaging |
Het |
| Nol10 |
G |
A |
12: 17,402,648 (GRCm39) |
R40H |
probably benign |
Het |
| Ntng1 |
G |
A |
3: 110,042,802 (GRCm39) |
S8L |
probably benign |
Het |
| Or4a71 |
T |
G |
2: 89,357,948 (GRCm39) |
I269L |
probably benign |
Het |
| Or4c107 |
T |
A |
2: 88,789,177 (GRCm39) |
Y122* |
probably null |
Het |
| Pacsin1 |
T |
A |
17: 27,927,613 (GRCm39) |
F319I |
unknown |
Het |
| Pla2g4d |
G |
A |
2: 120,109,413 (GRCm39) |
T212I |
probably benign |
Het |
| Ppp4r1 |
T |
A |
17: 66,140,093 (GRCm39) |
C664S |
possibly damaging |
Het |
| Prodh2 |
T |
C |
7: 30,210,580 (GRCm39) |
I377T |
probably damaging |
Het |
| Prss57 |
A |
T |
10: 79,619,230 (GRCm39) |
L243H |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 52,030,926 (GRCm39) |
R581* |
probably null |
Het |
| Rps6kc1 |
C |
T |
1: 190,531,321 (GRCm39) |
G894S |
probably benign |
Het |
| Sirt7 |
A |
G |
11: 120,510,016 (GRCm39) |
S183P |
unknown |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Styxl2 |
T |
A |
1: 165,926,708 (GRCm39) |
E968V |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,837,134 (GRCm39) |
D489E |
probably damaging |
Het |
| Tiprl |
T |
A |
1: 165,064,543 (GRCm39) |
|
probably benign |
Het |
| Tpt1 |
T |
C |
14: 76,085,539 (GRCm39) |
*173Q |
probably null |
Het |
| Trim17 |
A |
G |
11: 58,859,394 (GRCm39) |
I203V |
probably benign |
Het |
| Trim43b |
T |
A |
9: 88,973,361 (GRCm39) |
H124L |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,852,186 (GRCm39) |
I780T |
probably damaging |
Het |
| Tyrobp |
G |
A |
7: 30,114,063 (GRCm39) |
G101R |
|
Het |
| Vmn1r181 |
A |
T |
7: 23,683,871 (GRCm39) |
H112L |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,381,193 (GRCm39) |
N406D |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,013,728 (GRCm39) |
K379E |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,799,323 (GRCm39) |
I230T |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,477,533 (GRCm39) |
T3383A |
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 |
|
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 |
|
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'- TTTGGAGACTATGGCCCTCC -3'
(R):5'- GTGGCACTGACAGGTAACAC -3'
Sequencing Primer
(F):5'- AGACTATGGCCCTCCCGGAG -3'
(R):5'- TGACAGGTAACACTGCCCAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation