Incidental Mutation 'R0574:Tbc1d17'
ID |
46572 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d17
|
Ensembl Gene |
ENSMUSG00000038520 |
Gene Name |
TBC1 domain family, member 17 |
Synonyms |
|
MMRRC Submission |
038764-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R0574 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 44492547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033015]
[ENSMUST00000047085]
[ENSMUST00000118125]
[ENSMUST00000145959]
[ENSMUST00000207532]
[ENSMUST00000207293]
|
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
|
SMART Domains |
Protein: ENSMUSP00000048260 Gene: ENSMUSG00000038520
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139947
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207532
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149686
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207293
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
Actrt3 |
T |
C |
3: 30,653,829 (GRCm39) |
E57G |
probably benign |
Het |
Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
Klk1b27 |
T |
A |
7: 43,705,525 (GRCm39) |
L199Q |
probably damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
Mmp15 |
G |
A |
8: 96,092,029 (GRCm39) |
A80T |
possibly damaging |
Het |
Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
Mynn |
T |
C |
3: 30,670,888 (GRCm39) |
S587P |
probably benign |
Het |
Nfkbib |
C |
T |
7: 28,461,213 (GRCm39) |
V145I |
probably benign |
Het |
Or1o3 |
G |
T |
17: 37,573,772 (GRCm39) |
S261Y |
probably damaging |
Het |
Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
Prl8a2 |
T |
A |
13: 27,532,883 (GRCm39) |
C32S |
probably damaging |
Het |
Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
Stx8 |
C |
T |
11: 67,864,078 (GRCm39) |
T46M |
probably damaging |
Het |
Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
Het |
Vmn1r214 |
A |
G |
13: 23,218,663 (GRCm39) |
I52M |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACTCATACCCTGAACGTAGCCTG -3'
(R):5'- TGCATGGATACCGAAGCCTCATTG -3'
Sequencing Primer
(F):5'- CGTAGCCTGAGGGAACAC -3'
(R):5'- AGATTGGGTGGCCTTACCTC -3'
|
Posted On |
2013-06-11 |