Incidental Mutation 'R4547:Tbc1d17'
ID |
333825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d17
|
Ensembl Gene |
ENSMUSG00000038520 |
Gene Name |
TBC1 domain family, member 17 |
Synonyms |
|
MMRRC Submission |
041781-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R4547 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44490771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 607
(V607A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033015]
[ENSMUST00000047085]
[ENSMUST00000118125]
[ENSMUST00000207293]
[ENSMUST00000145959]
|
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 benign
Transcript: ENSMUST00000047085
AA Change: V607A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048260 Gene: ENSMUSG00000038520 AA Change: V607A
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: ENSMUST00000139947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149686
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
G |
T |
14: 54,883,124 (GRCm39) |
A909E |
probably benign |
Het |
Ankrd13a |
A |
G |
5: 114,913,357 (GRCm39) |
E23G |
probably benign |
Het |
Ano4 |
T |
C |
10: 88,817,032 (GRCm39) |
R148G |
probably null |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Aspm |
T |
C |
1: 139,405,925 (GRCm39) |
V1604A |
possibly damaging |
Het |
Cdh1 |
C |
A |
8: 107,390,535 (GRCm39) |
T625K |
probably damaging |
Het |
Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
Cfhr3 |
T |
G |
1: 139,512,651 (GRCm39) |
|
noncoding transcript |
Het |
Csmd1 |
T |
C |
8: 16,441,811 (GRCm39) |
D351G |
possibly damaging |
Het |
Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,169,388 (GRCm39) |
D404E |
probably benign |
Het |
Dpm1 |
A |
G |
2: 168,065,073 (GRCm39) |
L88P |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fat4 |
T |
C |
3: 39,005,432 (GRCm39) |
F1944L |
probably damaging |
Het |
Frmd4a |
C |
A |
2: 4,477,956 (GRCm39) |
L46I |
probably damaging |
Het |
Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
Hace1 |
T |
A |
10: 45,548,651 (GRCm39) |
|
probably null |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Klb |
T |
A |
5: 65,537,271 (GRCm39) |
V867E |
probably benign |
Het |
Lnpk |
C |
G |
2: 74,352,630 (GRCm39) |
E351Q |
probably benign |
Het |
Mettl25 |
T |
C |
10: 105,661,878 (GRCm39) |
D364G |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,227,467 (GRCm39) |
V567I |
probably benign |
Het |
Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
Naaa |
C |
T |
5: 92,411,445 (GRCm39) |
|
probably null |
Het |
Ncdn |
A |
G |
4: 126,640,467 (GRCm39) |
F542S |
probably damaging |
Het |
Nlrp4e |
A |
G |
7: 23,036,291 (GRCm39) |
N715D |
probably benign |
Het |
Nup42 |
T |
C |
5: 24,382,968 (GRCm39) |
|
probably benign |
Het |
Or10ag57 |
G |
A |
2: 87,218,504 (GRCm39) |
V152I |
probably benign |
Het |
Or2t6 |
A |
T |
14: 14,175,854 (GRCm38) |
I76N |
probably damaging |
Het |
Psg25 |
A |
G |
7: 18,258,629 (GRCm39) |
L349P |
probably damaging |
Het |
Rnf213 |
G |
T |
11: 119,370,496 (GRCm39) |
|
probably null |
Het |
Scara5 |
A |
C |
14: 65,908,023 (GRCm39) |
K4N |
possibly damaging |
Het |
Slc35f5 |
T |
C |
1: 125,500,119 (GRCm39) |
L211S |
probably benign |
Het |
Slc44a4 |
T |
A |
17: 35,146,731 (GRCm39) |
F285I |
probably damaging |
Het |
Slc8a3 |
A |
G |
12: 81,361,625 (GRCm39) |
V398A |
possibly damaging |
Het |
Smc2 |
T |
C |
4: 52,467,866 (GRCm39) |
S737P |
probably benign |
Het |
Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,785,170 (GRCm39) |
I229V |
possibly damaging |
Het |
Tac1 |
A |
G |
6: 7,557,216 (GRCm39) |
D74G |
probably damaging |
Het |
Tmem132a |
A |
G |
19: 10,837,564 (GRCm39) |
V582A |
possibly damaging |
Het |
Traf4 |
A |
G |
11: 78,051,863 (GRCm39) |
I207T |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,819,068 (GRCm39) |
R449G |
possibly damaging |
Het |
Ubn1 |
G |
A |
16: 4,889,956 (GRCm39) |
R407H |
probably damaging |
Het |
Vmn1r19 |
C |
T |
6: 57,381,774 (GRCm39) |
T109I |
possibly damaging |
Het |
Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
Vsig8 |
A |
T |
1: 172,388,163 (GRCm39) |
M44L |
probably benign |
Het |
Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
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 |
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 |
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'- ATTTCATTGGCCGGCTCATG -3'
(R):5'- CCTGATAAACCCCATGGCTC -3'
Sequencing Primer
(F):5'- CATGGACATGGAGCTCAGGACC -3'
(R):5'- GATAAACCCCATGGCTCCCCAG -3'
|
Posted On |
2015-08-18 |