Incidental Mutation 'IGL00694:Sult6b2'
| ID |
11026 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sult6b2
|
| Ensembl Gene |
ENSMUSG00000048473 |
| Gene Name |
sulfotransferase family 6B, member 2 |
| Synonyms |
LOC330440, Gm766 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL00694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142731507-142750192 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142736015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 193
(I193T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111768]
[ENSMUST00000156662]
|
| AlphaFold |
B7ZWN4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111768
AA Change: I193T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107398
Gene: ENSMUSG00000048473
AA Change: I193T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
37 |
276 |
1.5e-64 |
PFAM |
|
Pfam:Sulfotransfer_3
|
38 |
200 |
1.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156662
|
| SMART Domains |
Protein: ENSMUSP00000138527
Gene: ENSMUSG00000048473
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
74 |
157 |
5.6e-21 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,145,033 (GRCm39) |
|
probably benign |
Het |
| Aqr |
A |
T |
2: 113,982,006 (GRCm39) |
D259E |
probably damaging |
Het |
| Arl14ep |
A |
T |
2: 106,797,537 (GRCm39) |
F153L |
probably damaging |
Het |
| Asb15 |
G |
T |
6: 24,570,663 (GRCm39) |
R547L |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,455,427 (GRCm39) |
V1020G |
probably damaging |
Het |
| Coq2 |
C |
T |
5: 100,803,180 (GRCm39) |
S370N |
probably benign |
Het |
| Crebl2 |
T |
A |
6: 134,826,158 (GRCm39) |
S36R |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,310,079 (GRCm39) |
T263S |
possibly damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,562 (GRCm39) |
I190T |
possibly damaging |
Het |
| Fbn2 |
T |
G |
18: 58,170,881 (GRCm39) |
E2170A |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,761,500 (GRCm39) |
*129C |
probably null |
Het |
| Hc |
T |
C |
2: 34,881,641 (GRCm39) |
I1436V |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,498,159 (GRCm39) |
F534I |
probably damaging |
Het |
| Mfhas1 |
G |
A |
8: 36,057,925 (GRCm39) |
R800Q |
probably benign |
Het |
| Npat |
A |
G |
9: 53,474,817 (GRCm39) |
T870A |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,956,456 (GRCm39) |
V285A |
possibly damaging |
Het |
| Potegl |
A |
T |
2: 23,120,180 (GRCm39) |
Q192L |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,511,204 (GRCm39) |
I127N |
probably damaging |
Het |
| Spag1 |
A |
T |
15: 36,227,317 (GRCm39) |
E658V |
possibly damaging |
Het |
| St3gal2 |
A |
T |
8: 111,696,213 (GRCm39) |
H266L |
probably damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,238 (GRCm39) |
F107L |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,989,744 (GRCm39) |
D475G |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,155,993 (GRCm39) |
R169S |
probably damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,156 (GRCm39) |
N175S |
probably benign |
Het |
|
| Other mutations in Sult6b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00436:Sult6b2
|
APN |
6 |
142,743,563 (GRCm39) |
splice site |
probably benign |
|
|
IGL01146:Sult6b2
|
APN |
6 |
142,750,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01886:Sult6b2
|
APN |
6 |
142,735,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02385:Sult6b2
|
APN |
6 |
142,747,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02477:Sult6b2
|
APN |
6 |
142,747,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0088:Sult6b2
|
UTSW |
6 |
142,743,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2850:Sult6b2
|
UTSW |
6 |
142,743,613 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4015:Sult6b2
|
UTSW |
6 |
142,735,988 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4667:Sult6b2
|
UTSW |
6 |
142,747,421 (GRCm39) |
nonsense |
probably null |
|
|
R5172:Sult6b2
|
UTSW |
6 |
142,743,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Sult6b2
|
UTSW |
6 |
142,736,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6152:Sult6b2
|
UTSW |
6 |
142,750,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6893:Sult6b2
|
UTSW |
6 |
142,750,025 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7667:Sult6b2
|
UTSW |
6 |
142,732,085 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7853:Sult6b2
|
UTSW |
6 |
142,747,524 (GRCm39) |
missense |
not run |
|
|
R8071:Sult6b2
|
UTSW |
6 |
142,735,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Sult6b2
|
UTSW |
6 |
142,750,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8344:Sult6b2
|
UTSW |
6 |
142,736,022 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2012-12-06 |
Incidental Mutation