Incidental Mutation 'R0035:Tbc1d17'
| ID |
15330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d17
|
| Ensembl Gene |
ENSMUSG00000038520 |
| Gene Name |
TBC1 domain family, member 17 |
| Synonyms |
|
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44490832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 587
(N587D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033015]
[ENSMUST00000047085]
[ENSMUST00000118125]
[ENSMUST00000207293]
[ENSMUST00000145959]
|
| AlphaFold |
Q8BYH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033015
|
| SMART Domains |
Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:AlaDh_PNT_C
|
42 |
93 |
1.3e-9 |
PFAM |
|
Pfam:Thi4
|
53 |
100 |
1.8e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
59 |
94 |
1.4e-7 |
PFAM |
|
Pfam:HI0933_like
|
59 |
161 |
1.3e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
60 |
100 |
1.5e-8 |
PFAM |
|
Pfam:Pyr_redox
|
60 |
100 |
1.9e-8 |
PFAM |
|
Pfam:Pyr_redox_2
|
60 |
125 |
7.3e-8 |
PFAM |
|
Pfam:DAO
|
60 |
140 |
2.8e-9 |
PFAM |
|
Pfam:NAD_binding_8
|
63 |
130 |
3.6e-17 |
PFAM |
|
Pfam:Amino_oxidase
|
68 |
503 |
9.9e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047085
AA Change: N587D
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: N587D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3548
|
3 |
217 |
8.2e-93 |
PFAM |
|
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
|
TBC
|
307 |
545 |
3.93e-54 |
SMART |
|
Blast:TBC
|
554 |
594 |
1e-6 |
BLAST |
|
low complexity region
|
597 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118125
|
| SMART Domains |
Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:AlaDh_PNT_C
|
47 |
111 |
6.6e-9 |
PFAM |
|
Pfam:Pyr_redox_2
|
47 |
111 |
2e-9 |
PFAM |
|
Pfam:HI0933_like
|
67 |
169 |
1.8e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
68 |
108 |
5e-8 |
PFAM |
|
Pfam:Pyr_redox
|
68 |
109 |
8.5e-8 |
PFAM |
|
Pfam:DAO
|
68 |
159 |
5.6e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
71 |
138 |
1.2e-15 |
PFAM |
|
Pfam:Amino_oxidase
|
76 |
511 |
5.9e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133279
|
| SMART Domains |
Protein: ENSMUSP00000133613
Gene: ENSMUSG00000074141
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1TDO|A
|
2 |
44 |
1e-8 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145959
|
| SMART Domains |
Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3548
|
3 |
217 |
5.8e-93 |
PFAM |
|
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
|
TBC
|
307 |
544 |
3.91e-40 |
SMART |
|
| Meta Mutation Damage Score |
0.0806 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
probably benign |
Het |
|
| Other mutations in Tbc1d17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00753:Tbc1d17
|
APN |
7 |
44,492,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00791:Tbc1d17
|
APN |
7 |
44,494,737 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01865:Tbc1d17
|
APN |
7 |
44,492,113 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02468:Tbc1d17
|
APN |
7 |
44,497,753 (GRCm39) |
missense |
probably benign |
|
|
IGL02829:Tbc1d17
|
APN |
7 |
44,498,296 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4431001:Tbc1d17
|
UTSW |
7 |
44,494,498 (GRCm39) |
missense |
probably benign |
|
|
R0035:Tbc1d17
|
UTSW |
7 |
44,490,832 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0066:Tbc1d17
|
UTSW |
7 |
44,493,495 (GRCm39) |
unclassified |
probably benign |
|
|
R0066:Tbc1d17
|
UTSW |
7 |
44,493,495 (GRCm39) |
unclassified |
probably benign |
|
|
R0414:Tbc1d17
|
UTSW |
7 |
44,495,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0574:Tbc1d17
|
UTSW |
7 |
44,492,547 (GRCm39) |
unclassified |
probably benign |
|
|
R0626:Tbc1d17
|
UTSW |
7 |
44,492,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0960:Tbc1d17
|
UTSW |
7 |
44,497,852 (GRCm39) |
splice site |
probably benign |
|
|
R1203:Tbc1d17
|
UTSW |
7 |
44,492,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1244:Tbc1d17
|
UTSW |
7 |
44,493,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1730:Tbc1d17
|
UTSW |
7 |
44,494,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1783:Tbc1d17
|
UTSW |
7 |
44,494,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1899:Tbc1d17
|
UTSW |
7 |
44,491,057 (GRCm39) |
unclassified |
probably benign |
|
|
R1953:Tbc1d17
|
UTSW |
7 |
44,490,822 (GRCm39) |
splice site |
probably null |
|
|
R2106:Tbc1d17
|
UTSW |
7 |
44,497,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3889:Tbc1d17
|
UTSW |
7 |
44,495,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4240:Tbc1d17
|
UTSW |
7 |
44,496,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4547:Tbc1d17
|
UTSW |
7 |
44,490,771 (GRCm39) |
missense |
probably benign |
|
|
R4787:Tbc1d17
|
UTSW |
7 |
44,492,488 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5422:Tbc1d17
|
UTSW |
7 |
44,498,292 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R5569:Tbc1d17
|
UTSW |
7 |
44,497,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Tbc1d17
|
UTSW |
7 |
44,494,761 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6502:Tbc1d17
|
UTSW |
7 |
44,491,049 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6838:Tbc1d17
|
UTSW |
7 |
44,493,738 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7543:Tbc1d17
|
UTSW |
7 |
44,495,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8118:Tbc1d17
|
UTSW |
7 |
44,492,426 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8899:Tbc1d17
|
UTSW |
7 |
44,492,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9391:Tbc1d17
|
UTSW |
7 |
44,494,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Tbc1d17
|
UTSW |
7 |
44,490,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d17
|
UTSW |
7 |
44,492,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-17 |
Incidental Mutation