Incidental Mutation 'R0960:Tbc1d17'
ID |
81826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d17
|
Ensembl Gene |
ENSMUSG00000038520 |
Gene Name |
TBC1 domain family, member 17 |
Synonyms |
|
MMRRC Submission |
039089-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R0960 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 44497852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047085]
[ENSMUST00000054343]
[ENSMUST00000107880]
[ENSMUST00000107882]
[ENSMUST00000107885]
[ENSMUST00000127783]
[ENSMUST00000207293]
[ENSMUST00000145959]
[ENSMUST00000207223]
[ENSMUST00000150335]
[ENSMUST00000136232]
[ENSMUST00000141311]
[ENSMUST00000207532]
[ENSMUST00000208384]
|
AlphaFold |
Q8BYH7 |
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: 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 |
probably benign
Transcript: ENSMUST00000127783
|
SMART Domains |
Protein: ENSMUSP00000116149 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 |
Pfam:PRAS
|
134 |
247 |
1.3e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133846
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142098
|
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: ENSMUST00000130081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152091
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142880
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207223
|
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 |
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: 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: ENSMUST00000208890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207532
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208384
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
T |
C |
19: 8,867,792 (GRCm39) |
V256A |
probably benign |
Het |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
4930474N05Rik |
C |
A |
14: 35,818,367 (GRCm39) |
H122N |
probably benign |
Het |
Aamp |
T |
C |
1: 74,320,304 (GRCm39) |
T341A |
possibly damaging |
Het |
Adam26a |
A |
T |
8: 44,021,800 (GRCm39) |
H563Q |
probably damaging |
Het |
Ankrd13a |
G |
A |
5: 114,924,868 (GRCm39) |
E118K |
probably benign |
Het |
Asic5 |
A |
G |
3: 81,913,847 (GRCm39) |
I174V |
probably benign |
Het |
Atad2b |
G |
A |
12: 5,056,593 (GRCm39) |
|
probably benign |
Het |
Bub1b |
A |
G |
2: 118,437,161 (GRCm39) |
I120V |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,868,172 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
G |
4: 70,161,745 (GRCm39) |
Y254H |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,479,756 (GRCm39) |
I996T |
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
Flnc |
A |
G |
6: 29,441,511 (GRCm39) |
D431G |
probably damaging |
Het |
Gm4884 |
T |
A |
7: 40,692,232 (GRCm39) |
M67K |
possibly damaging |
Het |
Hmx3 |
T |
C |
7: 131,145,043 (GRCm39) |
Y118H |
probably benign |
Het |
Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
Il12b |
G |
T |
11: 44,299,315 (GRCm39) |
C128F |
probably damaging |
Het |
Ints6 |
T |
C |
14: 62,947,015 (GRCm39) |
M317V |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,471,781 (GRCm39) |
E769G |
probably damaging |
Het |
Kif28 |
G |
A |
1: 179,523,370 (GRCm39) |
Q987* |
probably null |
Het |
Klhdc3 |
T |
C |
17: 46,987,444 (GRCm39) |
H330R |
possibly damaging |
Het |
Leo1 |
G |
A |
9: 75,352,522 (GRCm39) |
E22K |
probably benign |
Het |
Lpcat2 |
C |
T |
8: 93,596,338 (GRCm39) |
T125M |
probably benign |
Het |
Map1a |
A |
G |
2: 121,132,124 (GRCm39) |
Y742C |
probably benign |
Het |
Mllt6 |
C |
T |
11: 97,555,772 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
A |
G |
11: 101,952,411 (GRCm39) |
V354A |
possibly damaging |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Myo10 |
A |
G |
15: 25,801,275 (GRCm39) |
E1488G |
probably damaging |
Het |
Neb |
A |
G |
2: 52,102,995 (GRCm39) |
V4461A |
probably benign |
Het |
Nudcd1 |
G |
T |
15: 44,291,047 (GRCm39) |
|
probably benign |
Het |
Or10ag59 |
T |
C |
2: 87,406,279 (GRCm39) |
Y284H |
probably benign |
Het |
Or2w1b |
A |
C |
13: 21,300,435 (GRCm39) |
D191A |
possibly damaging |
Het |
Pde1a |
G |
A |
2: 79,695,378 (GRCm39) |
|
probably benign |
Het |
Sdha |
A |
T |
13: 74,471,303 (GRCm39) |
|
probably benign |
Het |
Selenoo |
T |
G |
15: 88,980,957 (GRCm39) |
I432S |
probably benign |
Het |
Sh3gl2 |
A |
T |
4: 85,295,717 (GRCm39) |
I140F |
probably damaging |
Het |
Svopl |
G |
T |
6: 37,993,992 (GRCm39) |
Y346* |
probably null |
Het |
Tlr3 |
A |
C |
8: 45,850,452 (GRCm39) |
I815S |
probably damaging |
Het |
Tmem25 |
T |
A |
9: 44,706,809 (GRCm39) |
|
probably null |
Het |
Tpd52 |
A |
T |
3: 9,008,650 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
T |
11: 87,661,421 (GRCm39) |
|
probably benign |
Het |
Txndc11 |
A |
T |
16: 10,909,453 (GRCm39) |
D364E |
probably benign |
Het |
Unc5cl |
G |
T |
17: 48,766,624 (GRCm39) |
|
probably benign |
Het |
Vmn1r13 |
A |
G |
6: 57,186,996 (GRCm39) |
M52V |
probably benign |
Het |
Zap70 |
T |
C |
1: 36,818,254 (GRCm39) |
Y314H |
probably damaging |
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 |
R0574:Tbc1d17
|
UTSW |
7 |
44,492,547 (GRCm39) |
unclassified |
probably benign |
|
R0626:Tbc1d17
|
UTSW |
7 |
44,492,509 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AGCAAACAGGCTCACAGGTTCC -3'
(R):5'- ACGATGCTGTTGTCACTCTCCG -3'
Sequencing Primer
(F):5'- ACTCCCTGCCTTCCACTAGAG -3'
(R):5'- GGACTGTAGACTCGCCAC -3'
|
Posted On |
2013-11-08 |