Incidental Mutation 'IGL01479:Sult6b1'
ID |
88546 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sult6b1
|
Ensembl Gene |
ENSMUSG00000038045 |
Gene Name |
sulfotransferase family, cytosolic, 6B, member 1 |
Synonyms |
2410078J06Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
IGL01479
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
79192314-79214421 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 79213005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 82
(V82D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132823
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042683]
[ENSMUST00000159710]
[ENSMUST00000169544]
|
AlphaFold |
P0CC03 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042683
AA Change: V44D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000038282 Gene: ENSMUSG00000038045 AA Change: V44D
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
17 |
252 |
2.6e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159710
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169544
AA Change: V82D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000132823 Gene: ENSMUSG00000038045 AA Change: V82D
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
55 |
290 |
2.1e-57 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
C |
13: 4,322,934 (GRCm39) |
K225R |
probably benign |
Het |
Amn |
C |
A |
12: 111,238,227 (GRCm39) |
A47E |
probably damaging |
Het |
Arhgef1 |
T |
C |
7: 24,612,028 (GRCm39) |
I137T |
probably benign |
Het |
Cep57l1 |
T |
C |
10: 41,604,635 (GRCm39) |
K165E |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,292,859 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,846,543 (GRCm39) |
V2923A |
probably benign |
Het |
Dnaja2 |
T |
C |
8: 86,280,580 (GRCm39) |
Y35C |
probably damaging |
Het |
Dnajc2 |
T |
C |
5: 21,962,891 (GRCm39) |
T481A |
probably damaging |
Het |
Foxred2 |
A |
G |
15: 77,836,489 (GRCm39) |
|
probably null |
Het |
Gin1 |
C |
T |
1: 97,720,097 (GRCm39) |
T364I |
possibly damaging |
Het |
Glt8d2 |
C |
T |
10: 82,496,570 (GRCm39) |
V163I |
probably damaging |
Het |
Gm10118 |
T |
C |
10: 63,762,599 (GRCm39) |
|
probably benign |
Het |
Hps5 |
C |
T |
7: 46,412,366 (GRCm39) |
|
probably null |
Het |
Kdm4c |
A |
G |
4: 74,261,738 (GRCm39) |
K638E |
probably benign |
Het |
L3mbtl2 |
A |
G |
15: 81,560,593 (GRCm39) |
T285A |
probably benign |
Het |
Mab21l1 |
A |
G |
3: 55,691,253 (GRCm39) |
Y280C |
probably damaging |
Het |
Mcoln2 |
T |
A |
3: 145,881,407 (GRCm39) |
|
probably benign |
Het |
Myo9b |
G |
T |
8: 71,811,986 (GRCm39) |
R1926L |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,853,641 (GRCm39) |
V1251A |
probably benign |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,168 (GRCm39) |
D200G |
probably damaging |
Het |
Sbsn |
G |
A |
7: 30,451,782 (GRCm39) |
A266T |
possibly damaging |
Het |
Sgca |
A |
T |
11: 94,854,204 (GRCm39) |
C335* |
probably null |
Het |
Spag1 |
T |
C |
15: 36,233,345 (GRCm39) |
|
probably benign |
Het |
Tigit |
T |
C |
16: 43,479,885 (GRCm39) |
T137A |
probably benign |
Het |
Tmem125 |
G |
A |
4: 118,398,820 (GRCm39) |
Q204* |
probably null |
Het |
Tmem59l |
C |
T |
8: 70,938,748 (GRCm39) |
R111Q |
probably benign |
Het |
Vmn2r95 |
G |
A |
17: 18,664,124 (GRCm39) |
G448R |
probably damaging |
Het |
Zfp64 |
T |
C |
2: 168,793,599 (GRCm39) |
H49R |
probably damaging |
Het |
|
Other mutations in Sult6b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02065:Sult6b1
|
APN |
17 |
79,196,504 (GRCm39) |
missense |
probably damaging |
0.99 |
R0522:Sult6b1
|
UTSW |
17 |
79,212,958 (GRCm39) |
missense |
probably damaging |
0.97 |
R1911:Sult6b1
|
UTSW |
17 |
79,196,393 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3546:Sult6b1
|
UTSW |
17 |
79,214,336 (GRCm39) |
missense |
probably benign |
0.00 |
R4105:Sult6b1
|
UTSW |
17 |
79,214,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R4107:Sult6b1
|
UTSW |
17 |
79,214,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R4108:Sult6b1
|
UTSW |
17 |
79,214,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R5063:Sult6b1
|
UTSW |
17 |
79,213,005 (GRCm39) |
missense |
probably benign |
0.00 |
R5478:Sult6b1
|
UTSW |
17 |
79,202,101 (GRCm39) |
splice site |
probably null |
|
R5845:Sult6b1
|
UTSW |
17 |
79,202,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R6256:Sult6b1
|
UTSW |
17 |
79,214,343 (GRCm39) |
missense |
probably benign |
0.05 |
R6374:Sult6b1
|
UTSW |
17 |
79,214,360 (GRCm39) |
missense |
probably benign |
0.04 |
R7128:Sult6b1
|
UTSW |
17 |
79,202,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R7357:Sult6b1
|
UTSW |
17 |
79,202,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R7903:Sult6b1
|
UTSW |
17 |
79,198,279 (GRCm39) |
missense |
probably benign |
0.31 |
|
Posted On |
2013-11-18 |