Incidental Mutation 'R1244:Tbc1d17'
| ID |
152084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d17
|
| Ensembl Gene |
ENSMUSG00000038520 |
| Gene Name |
TBC1 domain family, member 17 |
| Synonyms |
|
| MMRRC Submission |
039311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R1244 (G1)
|
| Quality Score |
197 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44493822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 267
(V267E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033015]
[ENSMUST00000047085]
[ENSMUST00000054343]
[ENSMUST00000107885]
[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 damaging
Transcript: ENSMUST00000047085
AA Change: V267E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: V267E
| 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 |
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: 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 damaging
Transcript: ENSMUST00000145959
AA Change: V267E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: V267E
| 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 |
noncoding transcript
Transcript: ENSMUST00000149921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152091
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142098
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,262,918 (GRCm39) |
T1417I |
probably benign |
Het |
| Abca14 |
G |
A |
7: 119,815,561 (GRCm39) |
A270T |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,223,227 (GRCm39) |
T12K |
unknown |
Het |
| Ash2l |
T |
C |
8: 26,307,449 (GRCm39) |
S529G |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,180,654 (GRCm39) |
Y125C |
probably benign |
Het |
| Calca |
A |
G |
7: 114,232,962 (GRCm39) |
Y96H |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,946,417 (GRCm39) |
E131G |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,679,397 (GRCm39) |
D25G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,749,557 (GRCm39) |
D1728G |
probably damaging |
Het |
| Cyp39a1 |
A |
T |
17: 44,060,836 (GRCm39) |
K461N |
probably benign |
Het |
| Ddx50 |
T |
A |
10: 62,478,703 (GRCm39) |
Q161L |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,438,554 (GRCm39) |
T90A |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,868,367 (GRCm39) |
E39G |
possibly damaging |
Het |
| Hipk3 |
G |
A |
2: 104,263,601 (GRCm39) |
R905W |
probably damaging |
Het |
| Hsd11b1 |
T |
G |
1: 192,906,068 (GRCm39) |
M175L |
probably benign |
Het |
| Htra1 |
G |
A |
7: 130,586,799 (GRCm39) |
V461I |
possibly damaging |
Het |
| Il10 |
A |
G |
1: 130,951,953 (GRCm39) |
D162G |
probably damaging |
Het |
| Mapre2 |
A |
G |
18: 23,986,774 (GRCm39) |
K62R |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ogfod1 |
A |
G |
8: 94,763,999 (GRCm39) |
D28G |
probably benign |
Het |
| Or5an10 |
A |
T |
19: 12,275,860 (GRCm39) |
I212N |
probably damaging |
Het |
| Perm1 |
C |
T |
4: 156,302,340 (GRCm39) |
R295C |
probably benign |
Het |
| Ppp4c |
A |
G |
7: 126,385,452 (GRCm39) |
V119A |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,593,999 (GRCm39) |
I1616T |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,472,190 (GRCm39) |
N1390S |
probably benign |
Het |
| Sub1 |
A |
T |
15: 11,991,130 (GRCm39) |
V37E |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,847 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
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 |
|
|
R1203:Tbc1d17
|
UTSW |
7 |
44,492,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAAGGAACTTCCAAGCCTCTCGAC -3'
(R):5'- TTCCTAGCCTGGCCTTAGAGTGTG -3'
Sequencing Primer
(F):5'- CAACAGTCAGAGGGCTTCC -3'
(R):5'- GCCTTAGAGTGTGTGACCCTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation