Incidental Mutation 'R3546:Sult6b1'
| ID |
268216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult6b1
|
| Ensembl Gene |
ENSMUSG00000038045 |
| Gene Name |
sulfotransferase family, cytosolic, 6B, member 1 |
| Synonyms |
2410078J06Rik |
| MMRRC Submission |
040665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3546 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
79192314-79214421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79214336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 29
(T29I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042683]
[ENSMUST00000159710]
[ENSMUST00000169544]
|
| AlphaFold |
P0CC03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042683
|
| SMART Domains |
Protein: ENSMUSP00000038282
Gene: ENSMUSG00000038045
| 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: T29I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132823
Gene: ENSMUSG00000038045
AA Change: T29I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
55 |
290 |
2.1e-57 |
PFAM |
|
| Meta Mutation Damage Score |
0.1102 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,668,926 (GRCm39) |
|
probably benign |
Het |
| Bves |
A |
G |
10: 45,230,907 (GRCm39) |
R293G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,171,339 (GRCm39) |
N375S |
probably benign |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,083,262 (GRCm39) |
V46A |
probably damaging |
Het |
| Ddx23 |
G |
A |
15: 98,548,613 (GRCm39) |
T365M |
probably damaging |
Het |
| Etaa1 |
A |
G |
11: 17,903,823 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Hdac7 |
G |
T |
15: 97,705,890 (GRCm39) |
Q361K |
probably damaging |
Het |
| Itk |
A |
G |
11: 46,246,675 (GRCm39) |
L181P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,982,243 (GRCm39) |
Y677C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,943 (GRCm39) |
V424A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,014 (GRCm39) |
I223T |
probably damaging |
Het |
| Pdilt |
C |
A |
7: 119,099,711 (GRCm39) |
E186* |
probably null |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Ush1g |
T |
A |
11: 115,209,723 (GRCm39) |
H157L |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly damaging |
Het |
|
| Other mutations in Sult6b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01479:Sult6b1
|
APN |
17 |
79,213,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAACGAACCTCCTCCTTC -3'
(R):5'- TTGCCAGGAGGATATTCAAACAGG -3'
Sequencing Primer
(F):5'- GAACCTCCTCCTTCCCACC -3'
(R):5'- GAATGAGAATGGTTGATTGTTTTCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation