Incidental Mutation 'R8452:Tbc1d8'
| ID |
654784 |
| 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 |
067903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 39444438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 174
(R174S)
|
| 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: R174S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: R174S
| 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 |
unknown
Transcript: ENSMUST00000192531
AA Change: P134Q
|
| SMART Domains |
Protein: ENSMUSP00000142143
Gene: ENSMUSG00000003134
AA Change: P134Q
| 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: R174S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: R174S
| 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: 98.9%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Actl7b |
T |
A |
4: 56,740,251 (GRCm39) |
D369V |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,445,804 (GRCm39) |
D900G |
possibly damaging |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,377 (GRCm39) |
N246S |
possibly damaging |
Het |
| Cdkal1 |
G |
A |
13: 29,538,663 (GRCm39) |
P499S |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpp |
A |
G |
13: 49,683,887 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
| Cox8b |
T |
A |
7: 140,478,929 (GRCm39) |
E62V |
probably null |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,162 (GRCm39) |
A342T |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,997 (GRCm39) |
Y112H |
probably damaging |
Het |
| Dlg5 |
G |
T |
14: 24,241,261 (GRCm39) |
A212D |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,466,986 (GRCm39) |
E3626G |
probably null |
Het |
| Dpys |
T |
C |
15: 39,656,720 (GRCm39) |
E449G |
possibly damaging |
Het |
| Fam187a |
C |
A |
11: 102,777,400 (GRCm39) |
C401* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,814,937 (GRCm39) |
I3557L |
probably benign |
Het |
| Gm30083 |
C |
T |
14: 33,712,279 (GRCm39) |
|
probably null |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| H2bc7 |
A |
G |
13: 23,758,219 (GRCm39) |
V49A |
probably damaging |
Het |
| Ifi213 |
T |
C |
1: 173,422,835 (GRCm39) |
K10R |
possibly damaging |
Het |
| Morc2b |
T |
C |
17: 33,356,476 (GRCm39) |
D432G |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,631,425 (GRCm39) |
I59F |
probably damaging |
Het |
| Mttp |
A |
T |
3: 137,818,374 (GRCm39) |
D361E |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,863,510 (GRCm39) |
S28P |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,876,260 (GRCm39) |
V284D |
probably damaging |
Het |
| Nrip2 |
A |
T |
6: 128,384,957 (GRCm39) |
D203V |
probably damaging |
Het |
| Oog4 |
A |
T |
4: 143,164,047 (GRCm39) |
Y495N |
probably benign |
Het |
| Or52h1 |
A |
T |
7: 103,829,103 (GRCm39) |
C171S |
probably damaging |
Het |
| Or52n4 |
A |
T |
7: 104,293,736 (GRCm39) |
V281E |
possibly damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,459 (GRCm39) |
L172M |
possibly damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,647 (GRCm39) |
M151L |
probably benign |
Het |
| Pacrg |
T |
A |
17: 10,795,523 (GRCm39) |
R146* |
probably null |
Het |
| Pcdh18 |
A |
T |
3: 49,699,624 (GRCm39) |
M946K |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,575,917 (GRCm39) |
I241T |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,243,639 (GRCm39) |
I944T |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,510,511 (GRCm39) |
F99L |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,431,493 (GRCm39) |
N756K |
probably benign |
Het |
| Prex2 |
A |
T |
1: 11,355,363 (GRCm39) |
M1555L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,355,364 (GRCm39) |
M1555R |
probably benign |
Het |
| Prl3c1 |
T |
A |
13: 27,386,385 (GRCm39) |
D123E |
probably benign |
Het |
| Prr22 |
G |
A |
17: 57,078,311 (GRCm39) |
G155R |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,698,899 (GRCm39) |
D1132G |
probably damaging |
Het |
| Rnf180 |
A |
T |
13: 105,318,056 (GRCm39) |
F452Y |
probably damaging |
Het |
| Scn4b |
A |
T |
9: 45,058,039 (GRCm39) |
I44F |
possibly damaging |
Het |
| Selenon |
A |
T |
4: 134,275,398 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,607,410 (GRCm39) |
I291L |
probably benign |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,914,428 (GRCm39) |
F2370L |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,844,202 (GRCm39) |
H115L |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,908,381 (GRCm39) |
T1345S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,831 (GRCm39) |
N27354I |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,838,290 (GRCm39) |
Y854H |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,689,253 (GRCm39) |
W11R |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,016,577 (GRCm39) |
Q347R |
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 |
|
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 |
|
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'- AAAAGTGTCTGTACAAATCACGGG -3'
(R):5'- AAGTGTCTTTCTGTCCTCAGGC -3'
Sequencing Primer
(F):5'- GTGTCTGTACAAATCACGGGAATATG -3'
(R):5'- TCCTCAGGCTCTGATCGCAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation