Incidental Mutation 'R1203:Tbc1d17'
ID |
100254 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d17
|
Ensembl Gene |
ENSMUSG00000038520 |
Gene Name |
TBC1 domain family, member 17 |
Synonyms |
|
MMRRC Submission |
039273-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R1203 (G1)
|
Quality Score |
142 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 44492895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 363
(R363W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033015]
[ENSMUST00000047085]
[ENSMUST00000118125]
[ENSMUST00000145959]
[ENSMUST00000207293]
[ENSMUST00000207532]
|
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 damaging
Transcript: ENSMUST00000047085
AA Change: R363W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048260 Gene: ENSMUSG00000038520 AA Change: R363W
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: ENSMUST00000133846
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145959
AA Change: R363W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121546 Gene: ENSMUSG00000038520 AA Change: R363W
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207532
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139947
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142098
|
Meta Mutation Damage Score |
0.1351 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.6%
- 20x: 89.3%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,588,818 (GRCm39) |
R78S |
probably damaging |
Het |
Aadacl3 |
T |
C |
4: 144,190,140 (GRCm39) |
T54A |
probably benign |
Het |
Adcy8 |
A |
G |
15: 64,618,780 (GRCm39) |
I791T |
probably damaging |
Het |
Aldh1b1 |
A |
G |
4: 45,803,359 (GRCm39) |
D299G |
probably damaging |
Het |
Aoah |
A |
G |
13: 21,000,764 (GRCm39) |
E66G |
probably damaging |
Het |
Atl2 |
G |
T |
17: 80,160,334 (GRCm39) |
H418N |
probably damaging |
Het |
Atp6v1d |
A |
G |
12: 78,908,214 (GRCm39) |
I7T |
possibly damaging |
Het |
Calhm3 |
C |
T |
19: 47,143,839 (GRCm39) |
V155M |
probably damaging |
Het |
Carmil1 |
A |
T |
13: 24,282,989 (GRCm39) |
I105K |
probably damaging |
Het |
Csrp3 |
C |
A |
7: 48,489,278 (GRCm39) |
M1I |
probably null |
Het |
Dnah10 |
T |
A |
5: 124,837,078 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
C |
12: 117,897,547 (GRCm39) |
N3561S |
possibly damaging |
Het |
Dzip3 |
A |
T |
16: 48,772,180 (GRCm39) |
D496E |
probably damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,820,797 (GRCm39) |
V246A |
probably benign |
Het |
Fam171b |
T |
A |
2: 83,643,313 (GRCm39) |
V74E |
probably benign |
Het |
Gm14137 |
C |
T |
2: 119,005,605 (GRCm39) |
R55W |
probably damaging |
Het |
Gm4950 |
T |
C |
18: 51,998,830 (GRCm39) |
I42V |
probably benign |
Het |
Gpr35 |
T |
C |
1: 92,910,870 (GRCm39) |
V194A |
probably damaging |
Het |
Kdm5d |
C |
T |
Y: 941,011 (GRCm39) |
S1132F |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
Ncln |
A |
G |
10: 81,332,027 (GRCm39) |
V24A |
possibly damaging |
Het |
Nphp4 |
A |
G |
4: 152,573,289 (GRCm39) |
K76E |
probably damaging |
Het |
Nsf |
CAATAATAATAATAATA |
CAATAATAATAATAATAATA |
11: 103,816,952 (GRCm39) |
|
probably benign |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or52h2 |
A |
T |
7: 103,839,060 (GRCm39) |
L118* |
probably null |
Het |
Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
Pcbd2 |
G |
A |
13: 55,880,881 (GRCm39) |
|
probably null |
Het |
Rapgef6 |
T |
A |
11: 54,582,525 (GRCm39) |
V1479D |
probably benign |
Het |
Rnf43 |
T |
C |
11: 87,618,301 (GRCm39) |
|
probably benign |
Het |
Robo3 |
A |
G |
9: 37,329,978 (GRCm39) |
W1113R |
probably damaging |
Het |
Sall1 |
A |
T |
8: 89,758,562 (GRCm39) |
V514E |
probably damaging |
Het |
Sgpp1 |
A |
G |
12: 75,763,056 (GRCm39) |
I375T |
probably benign |
Het |
Strc |
T |
C |
2: 121,202,604 (GRCm39) |
N1187S |
possibly damaging |
Het |
Tbcd |
A |
G |
11: 121,366,451 (GRCm39) |
Q242R |
probably benign |
Het |
Tbcel |
A |
C |
9: 42,362,947 (GRCm39) |
V50G |
probably damaging |
Het |
Tead3 |
C |
T |
17: 28,560,536 (GRCm39) |
A23T |
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tlcd5 |
A |
G |
9: 43,022,775 (GRCm39) |
V193A |
probably benign |
Het |
Tmem241 |
G |
T |
18: 12,217,035 (GRCm39) |
|
probably benign |
Het |
Tmtc3 |
G |
T |
10: 100,312,606 (GRCm39) |
T79K |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,362,281 (GRCm39) |
V241A |
probably damaging |
Het |
Vps8 |
A |
T |
16: 21,330,307 (GRCm39) |
I729F |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
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 |
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 |
|
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'- TCAGAGGTAGCAGCGATAGTTCCC -3'
(R):5'- GGTGACACACATTAGCAGAAGCCC -3'
Sequencing Primer
(F):5'- AGCAGCGATAGTTCCCTGTATG -3'
(R):5'- TCCTGTGTAGAGAAGCATCG -3'
|
Posted On |
2014-01-15 |