Incidental Mutation 'R0414:Tbc1d17'
ID |
40166 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d17
|
Ensembl Gene |
ENSMUSG00000038520 |
Gene Name |
TBC1 domain family, member 17 |
Synonyms |
|
MMRRC Submission |
038616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R0414 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44495483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 114
(S114G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047085]
[ENSMUST00000054343]
[ENSMUST00000107880]
[ENSMUST00000107882]
[ENSMUST00000107885]
[ENSMUST00000145959]
[ENSMUST00000207293]
[ENSMUST00000207532]
[ENSMUST00000207223]
[ENSMUST00000141311]
[ENSMUST00000136232]
[ENSMUST00000150335]
[ENSMUST00000208384]
|
AlphaFold |
Q8BYH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047085
AA Change: S114G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048260 Gene: ENSMUSG00000038520 AA Change: S114G
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: ENSMUST00000054343
|
SMART Domains |
Protein: ENSMUSP00000049764 Gene: ENSMUSG00000011096
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
60 |
N/A |
INTRINSIC |
low complexity region
|
66 |
101 |
N/A |
INTRINSIC |
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
180 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102096
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107880
|
SMART Domains |
Protein: ENSMUSP00000103512 Gene: ENSMUSG00000011096
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
60 |
N/A |
INTRINSIC |
low complexity region
|
66 |
101 |
N/A |
INTRINSIC |
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
180 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107882
|
SMART Domains |
Protein: ENSMUSP00000103514 Gene: ENSMUSG00000011096
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
86 |
N/A |
INTRINSIC |
low complexity region
|
92 |
127 |
N/A |
INTRINSIC |
low complexity region
|
128 |
142 |
N/A |
INTRINSIC |
low complexity region
|
187 |
206 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107885
|
SMART Domains |
Protein: ENSMUSP00000103517 Gene: ENSMUSG00000011096
Domain | Start | End | E-Value | Type |
low complexity region
|
104 |
131 |
N/A |
INTRINSIC |
low complexity region
|
137 |
172 |
N/A |
INTRINSIC |
low complexity region
|
173 |
187 |
N/A |
INTRINSIC |
Pfam:PRAS
|
199 |
323 |
1.2e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130081
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145959
AA Change: S114G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121546 Gene: ENSMUSG00000038520 AA Change: S114G
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 |
probably benign
Transcript: ENSMUST00000207293
AA Change: S114G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152091
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139947
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207532
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207223
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142880
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141311
|
SMART Domains |
Protein: ENSMUSP00000120690 Gene: ENSMUSG00000011096
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
67 |
N/A |
INTRINSIC |
low complexity region
|
73 |
108 |
N/A |
INTRINSIC |
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
low complexity region
|
168 |
187 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136232
|
SMART Domains |
Protein: ENSMUSP00000116541 Gene: ENSMUSG00000011096
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
60 |
N/A |
INTRINSIC |
low complexity region
|
66 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150335
|
SMART Domains |
Protein: ENSMUSP00000122607 Gene: ENSMUSG00000011096
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
60 |
N/A |
INTRINSIC |
low complexity region
|
66 |
101 |
N/A |
INTRINSIC |
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000208890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208384
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
96% (64/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
A |
T |
5: 103,797,356 (GRCm39) |
V51E |
probably benign |
Het |
Abo |
T |
C |
2: 26,733,428 (GRCm39) |
Y259C |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,674,794 (GRCm39) |
S457P |
probably damaging |
Het |
Alk |
G |
T |
17: 72,206,281 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,439,230 (GRCm39) |
I1188T |
probably benign |
Het |
Ambra1 |
T |
C |
2: 91,706,084 (GRCm39) |
S730P |
possibly damaging |
Het |
Arhgef2 |
T |
C |
3: 88,539,575 (GRCm39) |
|
probably benign |
Het |
Atpsckmt |
T |
A |
15: 31,617,148 (GRCm39) |
Y126* |
probably null |
Het |
B3gnt7 |
T |
C |
1: 86,233,351 (GRCm39) |
I82T |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,193,526 (GRCm39) |
D400G |
probably benign |
Het |
Bag4 |
A |
G |
8: 26,258,025 (GRCm39) |
V434A |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,425,476 (GRCm39) |
|
probably null |
Het |
Cfc1 |
A |
G |
1: 34,576,409 (GRCm39) |
D130G |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
Clec2m |
T |
C |
6: 129,303,813 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
GAGAAGAAG |
GAGAAG |
4: 133,799,947 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,390,064 (GRCm39) |
D727G |
probably benign |
Het |
Dock10 |
C |
A |
1: 80,513,650 (GRCm39) |
V1129F |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,221,411 (GRCm39) |
I688N |
possibly damaging |
Het |
Dyrk1a |
C |
G |
16: 94,464,701 (GRCm39) |
T103R |
probably damaging |
Het |
Ebf1 |
C |
T |
11: 44,815,297 (GRCm39) |
R304* |
probably null |
Het |
Eif2s2 |
A |
G |
2: 154,726,381 (GRCm39) |
|
probably benign |
Het |
Endov |
T |
G |
11: 119,390,397 (GRCm39) |
Y8* |
probably null |
Het |
Eps15 |
T |
A |
4: 109,223,677 (GRCm39) |
D485E |
probably damaging |
Het |
Fam118a |
C |
A |
15: 84,929,890 (GRCm39) |
S39R |
probably damaging |
Het |
Fbxo22 |
T |
A |
9: 55,130,910 (GRCm39) |
M393K |
possibly damaging |
Het |
Firrm |
T |
C |
1: 163,795,890 (GRCm39) |
I434V |
probably benign |
Het |
Gab1 |
A |
G |
8: 81,526,918 (GRCm39) |
I60T |
probably damaging |
Het |
Gapvd1 |
A |
G |
2: 34,583,439 (GRCm39) |
L1059P |
probably benign |
Het |
Gbp5 |
A |
G |
3: 142,213,674 (GRCm39) |
|
probably null |
Het |
Glb1l2 |
T |
A |
9: 26,676,400 (GRCm39) |
K487* |
probably null |
Het |
H1f1 |
A |
G |
13: 23,948,141 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,591,573 (GRCm39) |
I1875M |
possibly damaging |
Het |
Jkamp |
T |
C |
12: 72,140,919 (GRCm39) |
|
probably null |
Het |
Kprp |
C |
T |
3: 92,733,020 (GRCm39) |
C10Y |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,401,372 (GRCm39) |
|
probably null |
Het |
Lrrn3 |
T |
A |
12: 41,503,939 (GRCm39) |
N126I |
probably damaging |
Het |
Mug1 |
T |
C |
6: 121,833,513 (GRCm39) |
F325L |
probably benign |
Het |
Myadm |
AC |
ACC |
7: 3,345,276 (GRCm39) |
|
probably null |
Het |
Nagk |
C |
T |
6: 83,774,249 (GRCm39) |
R87* |
probably null |
Het |
Nipal4 |
T |
A |
11: 46,052,735 (GRCm39) |
I77F |
probably damaging |
Het |
Or4c112 |
A |
G |
2: 88,853,490 (GRCm39) |
Y286H |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,769,932 (GRCm39) |
H250R |
probably damaging |
Het |
Pcx |
T |
C |
19: 4,657,670 (GRCm39) |
V378A |
possibly damaging |
Het |
Pfkp |
T |
A |
13: 6,643,246 (GRCm39) |
H524L |
probably benign |
Het |
Picalm |
A |
T |
7: 89,838,406 (GRCm39) |
N370I |
possibly damaging |
Het |
Plcl2 |
A |
C |
17: 50,914,983 (GRCm39) |
D664A |
possibly damaging |
Het |
Ptpn5 |
G |
A |
7: 46,732,884 (GRCm39) |
P320S |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,356,326 (GRCm39) |
|
probably benign |
Het |
Sfswap |
A |
G |
5: 129,581,115 (GRCm39) |
D96G |
possibly damaging |
Het |
Slfn1 |
A |
G |
11: 83,012,096 (GRCm39) |
I71V |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,181,943 (GRCm39) |
|
probably null |
Het |
Stx18 |
T |
C |
5: 38,262,349 (GRCm39) |
|
probably benign |
Het |
Suox |
T |
A |
10: 128,507,326 (GRCm39) |
H234L |
probably benign |
Het |
Tfeb |
T |
A |
17: 48,099,224 (GRCm39) |
|
probably null |
Het |
Tnks |
A |
C |
8: 35,320,463 (GRCm39) |
V736G |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,514,045 (GRCm39) |
T4A |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTTAGCGCCTTCCGACCAGAAC -3'
(R):5'- TTGCGTGCCAAGTAGAGGAATACAG -3'
Sequencing Primer
(F):5'- GACCAGAACTGTGCTTCGAC -3'
(R):5'- TCTGGAACGGACATGTGGC -3'
|
Posted On |
2013-05-23 |