Incidental Mutation 'R3889:Tbc1d17'
| ID |
310186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d17
|
| Ensembl Gene |
ENSMUSG00000038520 |
| Gene Name |
TBC1 domain family, member 17 |
| Synonyms |
|
| MMRRC Submission |
040801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R3889 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44495362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 154
(H154L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047085]
[ENSMUST00000054343]
[ENSMUST00000107880]
[ENSMUST00000107882]
[ENSMUST00000107885]
[ENSMUST00000145959]
[ENSMUST00000207293]
[ENSMUST00000207532]
[ENSMUST00000207223]
[ENSMUST00000141311]
[ENSMUST00000150335]
[ENSMUST00000136232]
[ENSMUST00000208384]
|
| AlphaFold |
Q8BYH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047085
AA Change: H154L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: H154L
| 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 |
noncoding transcript
Transcript: ENSMUST00000139947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145959
AA Change: H154L
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: H154L
| 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 damaging
Transcript: ENSMUST00000207293
AA Change: H154L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142880
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133846
|
| 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: 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: ENSMUST00000208890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208384
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
| Meta Mutation Damage Score |
0.4087 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| 7530416G11Rik |
A |
G |
15: 85,378,292 (GRCm39) |
F117S |
unknown |
Het |
| Adamts5 |
A |
G |
16: 85,665,009 (GRCm39) |
W652R |
probably damaging |
Het |
| Adamtsl4 |
G |
T |
3: 95,588,167 (GRCm39) |
Q607K |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,417,936 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
G |
A |
5: 124,777,203 (GRCm39) |
R168Q |
probably damaging |
Het |
| B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
| Baiap2l1 |
T |
C |
5: 144,215,345 (GRCm39) |
T387A |
possibly damaging |
Het |
| Cct3 |
A |
T |
3: 88,228,334 (GRCm39) |
Q472L |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,250,011 (GRCm39) |
E623K |
probably damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| Dclre1a |
A |
T |
19: 56,533,752 (GRCm39) |
C263S |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,821,479 (GRCm39) |
Q265L |
probably benign |
Het |
| Elp1 |
G |
A |
4: 56,759,852 (GRCm39) |
R1138C |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,431,327 (GRCm39) |
F526L |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
| Fat2 |
C |
A |
11: 55,172,589 (GRCm39) |
G2708V |
probably damaging |
Het |
| Fgd6 |
G |
A |
10: 93,925,499 (GRCm39) |
E853K |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Fsd1 |
A |
G |
17: 56,300,893 (GRCm39) |
K251E |
probably benign |
Het |
| Gjc3 |
T |
A |
5: 137,956,105 (GRCm39) |
N60I |
possibly damaging |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| H6pd |
T |
A |
4: 150,080,230 (GRCm39) |
Y197F |
possibly damaging |
Het |
| Hip1r |
C |
T |
5: 124,139,854 (GRCm39) |
R986* |
probably null |
Het |
| Igkv9-120 |
A |
G |
6: 68,027,362 (GRCm39) |
D92G |
probably damaging |
Het |
| Il6 |
A |
G |
5: 30,223,066 (GRCm39) |
K128E |
possibly damaging |
Het |
| Irf4 |
T |
C |
13: 30,945,473 (GRCm39) |
|
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,831,681 (GRCm39) |
|
probably benign |
Het |
| Pcmt1 |
C |
T |
10: 7,524,814 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
C |
T |
4: 141,369,301 (GRCm39) |
|
probably benign |
Het |
| Prkca |
C |
T |
11: 107,870,066 (GRCm39) |
G450R |
probably damaging |
Het |
| Psme3 |
C |
A |
11: 101,210,282 (GRCm39) |
P82T |
probably damaging |
Het |
| Rgs11 |
T |
C |
17: 26,426,561 (GRCm39) |
I262T |
probably damaging |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Serpina1e |
A |
T |
12: 103,917,132 (GRCm39) |
V179E |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,380,777 (GRCm39) |
Q685R |
possibly damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slc25a45 |
C |
T |
19: 5,930,661 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Spen |
A |
G |
4: 141,205,192 (GRCm39) |
V1145A |
unknown |
Het |
| Stub1 |
T |
C |
17: 26,050,276 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,952,923 (GRCm39) |
I176V |
probably benign |
Het |
| Tacr2 |
G |
A |
10: 62,100,865 (GRCm39) |
C325Y |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,658,258 (GRCm39) |
C54S |
possibly damaging |
Het |
| Tpsb2 |
G |
A |
17: 25,586,457 (GRCm39) |
V181I |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,274,939 (GRCm39) |
N146S |
probably null |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,289 (GRCm39) |
I196V |
possibly damaging |
Het |
| Zfp820 |
T |
C |
17: 22,037,877 (GRCm39) |
I484V |
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 |
|
|
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 |
|
|
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'- GGATATTCTTAGCGCCTTCCGAC -3'
(R):5'- TGTTGAGAGAGCACACTGC -3'
Sequencing Primer
(F):5'- CCAGAACTGTGCTTCGACCATG -3'
(R):5'- GCACACTGCGTGGATCTACAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation