Incidental Mutation 'R2862:Tbc1d8'
| ID |
252879 |
| 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 |
040452-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2862 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 39441777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 272
(Q272*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000192531]
[ENSMUST00000193823]
|
| AlphaFold |
Q9Z1A9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054462
AA Change: Q272*
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: Q272*
| 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 null
Transcript: ENSMUST00000193823
AA Change: Q272*
|
| SMART Domains |
Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: Q272*
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,259,057 (GRCm39) |
S2928G |
probably damaging |
Het |
| Abcd1 |
T |
A |
X: 72,781,064 (GRCm39) |
L713H |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,237,627 (GRCm39) |
I52V |
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,857,307 (GRCm39) |
V634E |
probably damaging |
Het |
| Ang |
G |
T |
14: 51,339,275 (GRCm39) |
D139Y |
probably damaging |
Het |
| Apoe |
T |
C |
7: 19,431,479 (GRCm39) |
Y46C |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,967,398 (GRCm39) |
V539D |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,161,868 (GRCm39) |
V114A |
probably damaging |
Het |
| Cap1 |
A |
T |
4: 122,758,518 (GRCm39) |
S221T |
probably benign |
Het |
| Ccdc121 |
G |
A |
5: 31,643,255 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,935,539 (GRCm39) |
E392G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,687,792 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
G |
A |
19: 39,449,138 (GRCm39) |
R72W |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,006,719 (GRCm39) |
G2199S |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,361,766 (GRCm39) |
E3608G |
probably benign |
Het |
| Ears2 |
A |
T |
7: 121,662,163 (GRCm39) |
L95Q |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,012,533 (GRCm39) |
K482N |
probably damaging |
Het |
| Gata5 |
C |
T |
2: 179,976,129 (GRCm39) |
G12S |
possibly damaging |
Het |
| Gm11938 |
C |
A |
11: 99,493,972 (GRCm39) |
R41L |
probably damaging |
Het |
| Grap2 |
A |
T |
15: 80,532,165 (GRCm39) |
Q260L |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,761,746 (GRCm39) |
S545P |
probably benign |
Het |
| Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
| Il18r1 |
T |
C |
1: 40,537,717 (GRCm39) |
V494A |
possibly damaging |
Het |
| Kdf1 |
G |
A |
4: 133,255,852 (GRCm39) |
E190K |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,298,608 (GRCm39) |
Q163* |
probably null |
Het |
| Lama3 |
G |
T |
18: 12,586,807 (GRCm39) |
L723F |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 135,900,866 (GRCm39) |
H22L |
probably benign |
Het |
| Maged1 |
G |
A |
X: 93,582,530 (GRCm39) |
P366S |
probably damaging |
Het |
| Med14 |
A |
G |
X: 12,585,936 (GRCm39) |
I521T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,201,196 (GRCm39) |
K841E |
probably damaging |
Het |
| Mrgbp |
G |
A |
2: 180,225,203 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Mrps18b |
G |
A |
17: 36,221,746 (GRCm39) |
S101L |
probably benign |
Het |
| Nmnat2 |
G |
A |
1: 152,988,171 (GRCm39) |
V267I |
probably benign |
Het |
| Noc2l |
A |
G |
4: 156,321,907 (GRCm39) |
D102G |
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,276,690 (GRCm39) |
E86G |
probably benign |
Het |
| Opn4 |
A |
G |
14: 34,315,785 (GRCm39) |
|
probably null |
Het |
| Or2d2b |
T |
A |
7: 106,705,675 (GRCm39) |
H131L |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,664 (GRCm39) |
I294K |
probably benign |
Het |
| Or52n1 |
A |
G |
7: 104,383,425 (GRCm39) |
F49L |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,945,298 (GRCm39) |
Y95H |
probably damaging |
Het |
| Pate3 |
T |
A |
9: 35,559,415 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pex2 |
A |
G |
3: 5,626,240 (GRCm39) |
Y190H |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,404,267 (GRCm39) |
T2299P |
probably damaging |
Het |
| Ppp6r3 |
A |
C |
19: 3,571,782 (GRCm39) |
S122R |
possibly damaging |
Het |
| Pwwp3b |
G |
A |
X: 138,137,429 (GRCm39) |
G656S |
possibly damaging |
Het |
| Rnf113a1 |
A |
G |
X: 36,455,736 (GRCm39) |
E231G |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,274,023 (GRCm39) |
L225P |
possibly damaging |
Het |
| Rreb1 |
G |
C |
13: 38,116,429 (GRCm39) |
A1263P |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,589,778 (GRCm39) |
V121A |
possibly damaging |
Het |
| Slc35e4 |
A |
T |
11: 3,862,796 (GRCm39) |
V131D |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,280,962 (GRCm39) |
M145K |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,188,116 (GRCm39) |
I798N |
probably benign |
Het |
| Srgap3 |
A |
T |
6: 112,699,933 (GRCm39) |
F1015Y |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,766,217 (GRCm39) |
Y567C |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,918,088 (GRCm39) |
D127G |
probably damaging |
Het |
| Ube2v1 |
G |
A |
2: 167,459,885 (GRCm39) |
P39L |
probably damaging |
Het |
| Vegfd |
A |
G |
X: 163,168,879 (GRCm39) |
E57G |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,400,044 (GRCm39) |
I335N |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,857,380 (GRCm39) |
H633R |
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 |
|
|
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 |
|
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'- AAGACTGACTCCAGGGCTAG -3'
(R):5'- AATGTCTTTCTCACGGACACC -3'
Sequencing Primer
(F):5'- GGACAAGTCCTCTAGAGATCCTG -3'
(R):5'- CATCCGGATCACTACACAGAATAAGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation