Incidental Mutation 'R7881:Tbc1d8'
| ID |
608732 |
| 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 |
045933-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7881 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 39425104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 582
(R582Q)
|
| 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: R582Q
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: R582Q
| 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: R582Q
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: R582Q
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,685 (GRCm39) |
N1030S |
possibly damaging |
Het |
| 4930507D05Rik |
A |
G |
10: 62,285,303 (GRCm39) |
H9R |
unknown |
Het |
| Anks1b |
T |
A |
10: 90,802,880 (GRCm39) |
S398T |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,122,871 (GRCm39) |
K139N |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,948,666 (GRCm39) |
H3047N |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,920,333 (GRCm39) |
S18F |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,031,277 (GRCm39) |
Y12C |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,705,271 (GRCm39) |
A585T |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,957,497 (GRCm39) |
N109S |
probably benign |
Het |
| Crisp4 |
A |
T |
1: 18,198,893 (GRCm39) |
D180E |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,997,450 (GRCm39) |
M546K |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,951,237 (GRCm39) |
V3024I |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,322,064 (GRCm39) |
D3752G |
probably damaging |
Het |
| Dram1 |
G |
T |
10: 88,160,609 (GRCm39) |
D237E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,769,426 (GRCm39) |
N626D |
probably benign |
Het |
| Elavl1 |
T |
G |
8: 4,361,763 (GRCm39) |
N3T |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,574,589 (GRCm39) |
V340A |
probably benign |
Het |
| Fer1l5 |
C |
T |
1: 36,446,117 (GRCm39) |
T876M |
not run |
Het |
| Foxp2 |
T |
A |
6: 15,409,888 (GRCm39) |
V471E |
unknown |
Het |
| Fstl5 |
G |
A |
3: 76,443,605 (GRCm39) |
G317R |
probably damaging |
Het |
| Gm32742 |
T |
C |
9: 51,060,414 (GRCm39) |
E963G |
possibly damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,575,733 (GRCm39) |
S257T |
possibly damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,769,568 (GRCm39) |
C218Y |
possibly damaging |
Het |
| Hmg20b |
T |
C |
10: 81,182,442 (GRCm39) |
H298R |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,967,591 (GRCm39) |
C72S |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,583,206 (GRCm39) |
M193T |
probably damaging |
Het |
| Khdc1c |
G |
T |
1: 21,439,899 (GRCm39) |
C150F |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,279,208 (GRCm39) |
S1485P |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,787,001 (GRCm39) |
S533P |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,040,060 (GRCm39) |
V997E |
possibly damaging |
Het |
| Mob2 |
T |
C |
7: 141,563,177 (GRCm39) |
Y94C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Npepl1 |
A |
G |
2: 173,962,387 (GRCm39) |
D351G |
probably damaging |
Het |
| Nrg1 |
G |
A |
8: 32,328,352 (GRCm39) |
Q213* |
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,810,990 (GRCm39) |
D677G |
probably benign |
Het |
| Or11h7 |
A |
G |
14: 50,890,904 (GRCm39) |
E70G |
probably damaging |
Het |
| Or2b4 |
G |
T |
17: 38,116,320 (GRCm39) |
G95C |
probably damaging |
Het |
| Or56a3 |
G |
T |
7: 104,735,780 (GRCm39) |
V286F |
probably damaging |
Het |
| Or5aq7 |
G |
T |
2: 86,938,401 (GRCm39) |
T110K |
probably damaging |
Het |
| Or5m3b |
C |
A |
2: 85,871,814 (GRCm39) |
Q52K |
probably benign |
Het |
| Or8c8 |
T |
A |
9: 38,165,406 (GRCm39) |
M228K |
probably benign |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,976,084 (GRCm39) |
T347N |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,100,393 (GRCm39) |
V1966I |
possibly damaging |
Het |
| Ptch2 |
A |
G |
4: 116,967,585 (GRCm39) |
H751R |
probably benign |
Het |
| Ptges2 |
T |
A |
2: 32,292,243 (GRCm39) |
M353K |
probably damaging |
Het |
| Pum3 |
G |
A |
19: 27,373,728 (GRCm39) |
Q564* |
probably null |
Het |
| Qtrt1 |
A |
G |
9: 21,330,637 (GRCm39) |
D279G |
probably damaging |
Het |
| Rftn1 |
C |
T |
17: 50,354,463 (GRCm39) |
V300I |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,717,585 (GRCm39) |
T1172A |
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,544,244 (GRCm39) |
D74G |
unknown |
Het |
| Setd1b |
A |
G |
5: 123,290,336 (GRCm39) |
M768V |
unknown |
Het |
| Shld2 |
A |
T |
14: 33,989,724 (GRCm39) |
M394K |
possibly damaging |
Het |
| Siglech |
A |
T |
7: 55,422,289 (GRCm39) |
H298L |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,701,704 (GRCm39) |
L977Q |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,403,332 (GRCm39) |
V800I |
probably benign |
Het |
| Spata31e1 |
A |
G |
13: 49,943,547 (GRCm39) |
S44P |
possibly damaging |
Het |
| Spata31f1a |
C |
T |
4: 42,851,586 (GRCm39) |
C190Y |
probably benign |
Het |
| Tmem247 |
T |
A |
17: 87,229,728 (GRCm39) |
F190I |
probably damaging |
Het |
| Trim42 |
C |
A |
9: 97,245,070 (GRCm39) |
A577S |
possibly damaging |
Het |
| Ubiad1 |
G |
A |
4: 148,528,726 (GRCm39) |
T61I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,923,435 (GRCm39) |
Q279* |
probably null |
Het |
| Usp48 |
A |
G |
4: 137,360,766 (GRCm39) |
N733S |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,286,487 (GRCm39) |
P568S |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,664,679 (GRCm39) |
W513R |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,410,440 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
T |
A |
11: 95,640,935 (GRCm39) |
S287T |
possibly damaging |
Het |
| Znrf3 |
G |
A |
11: 5,394,533 (GRCm39) |
A49V |
unknown |
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 |
|
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'- AGCTGATCGGCCTGTTTGAC -3'
(R):5'- CAAGCCATCATCATGAAACGTTGC -3'
Sequencing Primer
(F):5'- CCTGTTTGACTGGACAGCAG -3'
(R):5'- ACTCCTCAGATGCTGTGACG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation