Incidental Mutation 'R4240:Tbc1d17'
ID |
320164 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d17
|
Ensembl Gene |
ENSMUSG00000038520 |
Gene Name |
TBC1 domain family, member 17 |
Synonyms |
|
MMRRC Submission |
041057-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R4240 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44496250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 84
(Y84C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047085]
[ENSMUST00000054343]
[ENSMUST00000107880]
[ENSMUST00000107882]
[ENSMUST00000107885]
[ENSMUST00000145959]
[ENSMUST00000207293]
[ENSMUST00000207223]
[ENSMUST00000207532]
[ENSMUST00000136232]
[ENSMUST00000150335]
[ENSMUST00000141311]
[ENSMUST00000208384]
|
AlphaFold |
Q8BYH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047085
AA Change: Y84C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048260 Gene: ENSMUSG00000038520 AA Change: Y84C
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 damaging
Transcript: ENSMUST00000145959
AA Change: Y84C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121546 Gene: ENSMUSG00000038520 AA Change: Y84C
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: Y84C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152091
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142880
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207223
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142098
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207532
|
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 |
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 |
unknown
Transcript: ENSMUST00000208890
AA Change: M77V
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208384
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
Meta Mutation Damage Score |
0.2834 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
93% (50/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
4930488N24Rik |
A |
T |
17: 14,326,049 (GRCm39) |
|
noncoding transcript |
Het |
Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
Ceacam3 |
G |
A |
7: 16,893,949 (GRCm39) |
E487K |
possibly damaging |
Het |
Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
Cnot6l |
T |
C |
5: 96,225,221 (GRCm39) |
T491A |
probably benign |
Het |
Cog7 |
C |
T |
7: 121,524,707 (GRCm39) |
V696M |
possibly damaging |
Het |
Col22a1 |
C |
T |
15: 71,878,980 (GRCm39) |
G59D |
probably damaging |
Het |
Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
Eno1b |
T |
A |
18: 48,180,907 (GRCm39) |
S362T |
probably benign |
Het |
Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
Hsf4 |
A |
G |
8: 106,001,513 (GRCm39) |
T378A |
possibly damaging |
Het |
Irf2bpl |
C |
A |
12: 86,929,691 (GRCm39) |
Q327H |
possibly damaging |
Het |
Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,742,452 (GRCm39) |
|
probably benign |
Het |
Kplce |
T |
C |
3: 92,775,898 (GRCm39) |
I262V |
possibly damaging |
Het |
Lad1 |
T |
A |
1: 135,755,033 (GRCm39) |
V103D |
possibly damaging |
Het |
Mcm4 |
A |
T |
16: 15,445,570 (GRCm39) |
Y692* |
probably null |
Het |
Med15 |
C |
T |
16: 17,473,358 (GRCm39) |
R497H |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,014,163 (GRCm39) |
V177A |
possibly damaging |
Het |
Mr1 |
T |
C |
1: 155,012,413 (GRCm39) |
E167G |
probably damaging |
Het |
Myo18b |
A |
G |
5: 112,951,053 (GRCm39) |
|
probably null |
Het |
Myom2 |
A |
G |
8: 15,182,895 (GRCm39) |
D1444G |
probably benign |
Het |
Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,115,243 (GRCm39) |
H479Q |
noncoding transcript |
Het |
Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
Pate10 |
T |
A |
9: 35,653,449 (GRCm39) |
Y84* |
probably null |
Het |
Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
Rdh7 |
T |
C |
10: 127,721,671 (GRCm39) |
I202V |
probably benign |
Het |
Rsf1 |
C |
CGGCGGCGGT |
7: 97,229,142 (GRCm39) |
|
probably benign |
Het |
Sgsm3 |
A |
G |
15: 80,895,983 (GRCm39) |
|
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
Slc8a3 |
T |
C |
12: 81,361,950 (GRCm39) |
K290E |
probably damaging |
Het |
Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
Vmn2r8 |
A |
T |
5: 108,945,369 (GRCm39) |
V746D |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,202,790 (GRCm39) |
V1120A |
possibly damaging |
Het |
Zbtb38 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTCTTC |
9: 96,568,155 (GRCm39) |
|
probably benign |
Het |
Zfp791 |
T |
C |
8: 85,836,295 (GRCm39) |
H523R |
probably null |
Het |
Zfp870 |
A |
G |
17: 33,104,710 (GRCm39) |
I53T |
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 |
|
R3889:Tbc1d17
|
UTSW |
7 |
44,495,362 (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'- ATGTCCAGAGCCAAGCCATTC -3'
(R):5'- AGCCACCATGAAGCTGTCTC -3'
Sequencing Primer
(F):5'- CATTCTTTCCTAGGCCAGAAAGG -3'
(R):5'- ATGAAGCTGTCTCCCTCCCG -3'
|
Posted On |
2015-06-12 |