Incidental Mutation 'IGL02317:Tbc1d8'
| ID |
288062 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d8
|
| Ensembl Gene |
ENSMUSG00000003134 |
| Gene Name |
TBC1 domain family, member 8 |
| Synonyms |
GRAM domain, BUB2-like protein 1, HBLP1, AD3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39415985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 896
(E896G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000086535]
[ENSMUST00000192531]
[ENSMUST00000193823]
|
| AlphaFold |
Q9Z1A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054462
AA Change: E896G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: E896G
| 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: ENSMUST00000086535
|
| SMART Domains |
Protein: ENSMUSP00000083722
Gene: ENSMUSG00000073702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L31e
|
18 |
101 |
3.1e-43 |
PFAM |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192099
|
| 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 benign
Transcript: ENSMUST00000193823
AA Change: E896G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: E896G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019M22Rik |
T |
C |
12: 96,013,780 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,784,408 (GRCm39) |
N294D |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,933,282 (GRCm39) |
P418S |
possibly damaging |
Het |
| Abca5 |
T |
A |
11: 110,218,587 (GRCm39) |
Q93L |
probably benign |
Het |
| Arhgap22 |
G |
T |
14: 33,081,230 (GRCm39) |
V209L |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,154,693 (GRCm39) |
R7L |
possibly damaging |
Het |
| Ccdc86 |
T |
C |
19: 10,920,556 (GRCm39) |
Q420R |
possibly damaging |
Het |
| Cep85 |
C |
T |
4: 133,883,122 (GRCm39) |
G256R |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
| Dck |
T |
C |
5: 88,921,942 (GRCm39) |
Y135H |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,663,279 (GRCm39) |
E1434G |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,334,244 (GRCm39) |
T4824I |
probably damaging |
Het |
| Fam20c |
G |
A |
5: 138,792,115 (GRCm39) |
R404H |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,478,855 (GRCm39) |
A2611T |
probably benign |
Het |
| Fbxl13 |
C |
T |
5: 21,727,232 (GRCm39) |
C555Y |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,049 (GRCm39) |
R323L |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,298,711 (GRCm39) |
F50L |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,450,332 (GRCm39) |
Y50C |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,316,097 (GRCm39) |
H437L |
probably damaging |
Het |
| Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,074,147 (GRCm39) |
T624A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,833,112 (GRCm39) |
Y1574C |
probably damaging |
Het |
| Lrrc26 |
A |
G |
2: 25,180,314 (GRCm39) |
N105S |
probably damaging |
Het |
| Megf8 |
C |
A |
7: 25,063,213 (GRCm39) |
T2523K |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,370,005 (GRCm39) |
I135V |
probably benign |
Het |
| Oma1 |
A |
G |
4: 103,176,234 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
T |
G |
16: 29,433,984 (GRCm39) |
|
probably null |
Het |
| Or13j1 |
T |
C |
4: 43,706,172 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5m3b |
T |
C |
2: 85,871,913 (GRCm39) |
S85P |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Rab11b |
C |
T |
17: 33,968,790 (GRCm39) |
A43T |
probably damaging |
Het |
| Rabl2 |
A |
T |
15: 89,468,492 (GRCm39) |
N133K |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,467,621 (GRCm39) |
V840I |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,854 (GRCm39) |
S1001P |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,432,389 (GRCm39) |
E859G |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,073 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,765 (GRCm39) |
I710T |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,662,492 (GRCm39) |
T533A |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation