Incidental Mutation 'R2437:Tbc1d8'
ID |
249613 |
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 |
040398-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2437 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 39444368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000192531]
[ENSMUST00000193823]
|
AlphaFold |
Q9Z1A9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000054462
|
SMART Domains |
Protein: ENSMUSP00000049967 Gene: ENSMUSG00000003134
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
|
SMART Domains |
Protein: ENSMUSP00000141750 Gene: ENSMUSG00000003134
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
A |
G |
4: 148,031,075 (GRCm39) |
*635W |
probably null |
Het |
Anxa2 |
A |
G |
9: 69,397,046 (GRCm39) |
Y317C |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,340,002 (GRCm39) |
S675P |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,012,834 (GRCm39) |
|
probably null |
Het |
Camk2d |
A |
G |
3: 126,628,277 (GRCm39) |
N53S |
probably damaging |
Het |
Carns1 |
A |
T |
19: 4,215,782 (GRCm39) |
M800K |
possibly damaging |
Het |
Ces1f |
A |
T |
8: 93,996,767 (GRCm39) |
|
probably null |
Het |
Chrne |
T |
A |
11: 70,506,086 (GRCm39) |
D426V |
possibly damaging |
Het |
Cntfr |
T |
C |
4: 41,671,035 (GRCm39) |
T43A |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 10,048,758 (GRCm39) |
C63* |
probably null |
Het |
Col12a1 |
G |
A |
9: 79,599,501 (GRCm39) |
T884I |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,307,537 (GRCm39) |
|
probably null |
Het |
Dnajc2 |
A |
T |
5: 21,965,389 (GRCm39) |
S537R |
probably benign |
Het |
Dnajc25 |
T |
C |
4: 59,020,234 (GRCm39) |
I100T |
probably damaging |
Het |
Ephx1 |
C |
A |
1: 180,823,661 (GRCm39) |
G149C |
probably damaging |
Het |
Fam163b |
G |
T |
2: 27,002,698 (GRCm39) |
P100T |
probably damaging |
Het |
Fbxl9 |
A |
G |
8: 106,039,675 (GRCm39) |
|
probably null |
Het |
Fgd5 |
A |
T |
6: 92,039,850 (GRCm39) |
R1017* |
probably null |
Het |
Fibin |
A |
T |
2: 110,192,848 (GRCm39) |
L98Q |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,505,481 (GRCm39) |
L929H |
probably damaging |
Het |
Frem1 |
T |
A |
4: 82,918,410 (GRCm39) |
S512C |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,659,829 (GRCm39) |
M298L |
probably benign |
Het |
Gstm2 |
G |
A |
3: 107,891,369 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
A |
G |
5: 31,317,042 (GRCm39) |
|
probably null |
Het |
Ibtk |
A |
C |
9: 85,590,178 (GRCm39) |
L1026V |
probably benign |
Het |
Il9 |
T |
A |
13: 56,629,684 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
T |
C |
1: 37,432,037 (GRCm39) |
S146P |
probably damaging |
Het |
Kcnab1 |
G |
T |
3: 65,264,435 (GRCm39) |
|
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,436 (GRCm39) |
S217P |
probably damaging |
Het |
Mr1 |
T |
C |
1: 155,008,277 (GRCm39) |
M233V |
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,218,584 (GRCm39) |
T1415I |
probably damaging |
Het |
Oasl2 |
G |
A |
5: 115,049,357 (GRCm39) |
D486N |
probably benign |
Het |
Or1j14 |
A |
T |
2: 36,418,258 (GRCm39) |
Y278F |
probably damaging |
Het |
Or9a7 |
G |
A |
6: 40,521,856 (GRCm39) |
T19I |
probably benign |
Het |
Or9s27 |
T |
C |
1: 92,516,688 (GRCm39) |
I212T |
possibly damaging |
Het |
Pcnx4 |
T |
C |
12: 72,588,587 (GRCm39) |
F132L |
probably damaging |
Het |
Pde5a |
T |
A |
3: 122,636,702 (GRCm39) |
L717Q |
probably damaging |
Het |
Peli2 |
A |
T |
14: 48,465,389 (GRCm39) |
|
probably benign |
Het |
Phf14 |
A |
G |
6: 11,962,657 (GRCm39) |
S435G |
probably damaging |
Het |
Plekhg1 |
T |
A |
10: 3,913,564 (GRCm39) |
H1095Q |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,893,907 (GRCm39) |
|
probably null |
Het |
Plekho1 |
T |
G |
3: 95,899,497 (GRCm39) |
N99H |
probably damaging |
Het |
Plxnc1 |
T |
A |
10: 94,742,395 (GRCm39) |
K457N |
probably benign |
Het |
Ppp1r3a |
T |
C |
6: 14,718,322 (GRCm39) |
E864G |
probably benign |
Het |
Prkab2 |
T |
A |
3: 97,574,715 (GRCm39) |
L237Q |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptger3 |
T |
A |
3: 157,273,207 (GRCm39) |
C185S |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,230,709 (GRCm39) |
Y267H |
probably damaging |
Het |
Pum2 |
A |
G |
12: 8,794,654 (GRCm39) |
I715V |
probably benign |
Het |
R3hdm1 |
T |
C |
1: 128,114,573 (GRCm39) |
V518A |
probably damaging |
Het |
Rab3d |
T |
C |
9: 21,827,147 (GRCm39) |
I28V |
probably damaging |
Het |
Rad54b |
T |
C |
4: 11,606,272 (GRCm39) |
L560P |
probably damaging |
Het |
Rgs20 |
A |
G |
1: 5,140,370 (GRCm39) |
|
probably null |
Het |
Sesn1 |
T |
A |
10: 41,781,315 (GRCm39) |
L460H |
probably damaging |
Het |
Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
Slco6c1 |
T |
A |
1: 96,990,201 (GRCm39) |
H663L |
probably benign |
Het |
Snx13 |
T |
A |
12: 35,132,926 (GRCm39) |
C63S |
probably benign |
Het |
Spmip4 |
T |
A |
6: 50,560,959 (GRCm39) |
D212V |
probably damaging |
Het |
Strip2 |
T |
C |
6: 29,941,940 (GRCm39) |
|
probably null |
Het |
Syncrip |
A |
G |
9: 88,361,620 (GRCm39) |
|
probably benign |
Het |
Taf15 |
A |
G |
11: 83,395,579 (GRCm39) |
|
probably benign |
Het |
Tgm4 |
T |
A |
9: 122,877,614 (GRCm39) |
C205* |
probably null |
Het |
Tmem212 |
A |
T |
3: 27,940,628 (GRCm39) |
L63Q |
possibly damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,054 (GRCm39) |
|
probably null |
Het |
Trpm5 |
C |
A |
7: 142,636,298 (GRCm39) |
V525L |
probably benign |
Het |
Ttn |
A |
G |
2: 76,537,171 (GRCm39) |
L34919P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,694,619 (GRCm39) |
|
probably benign |
Het |
Tuba4a |
T |
C |
1: 75,194,069 (GRCm39) |
I4V |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,200,853 (GRCm39) |
D4679G |
possibly damaging |
Het |
Usp2 |
T |
G |
9: 44,003,445 (GRCm39) |
V448G |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,453,024 (GRCm39) |
|
probably null |
Het |
Zfp341 |
T |
A |
2: 154,470,721 (GRCm39) |
V246E |
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 |
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 |
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'- CTCCTTGGAGAAGCAGCCTATG -3'
(R):5'- AAGTGTCTTTCTGTCCTCAGGC -3'
Sequencing Primer
(F):5'- GCAGCCTATGTAATTAAGCAAAAGTG -3'
(R):5'- TCTGATCGCAGAGGAGACC -3'
|
Posted On |
2014-11-12 |