Incidental Mutation 'R3031:Sult3a1'
ID |
264731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sult3a1
|
Ensembl Gene |
ENSMUSG00000069668 |
Gene Name |
sulfotransferase family 3A, member 1 |
Synonyms |
Sultx2 |
MMRRC Submission |
040547-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R3031 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
33733717-33755528 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33753345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 214
(D214N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092597]
[ENSMUST00000218204]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092597
AA Change: D214N
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000090259 Gene: ENSMUSG00000069668 AA Change: D214N
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
36 |
283 |
1.8e-81 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217760
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218204
AA Change: D214N
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
Cbln4 |
A |
G |
2: 171,884,100 (GRCm39) |
V40A |
probably damaging |
Het |
Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
Cdc37 |
T |
C |
9: 21,054,487 (GRCm39) |
E46G |
possibly damaging |
Het |
Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lipe |
T |
C |
7: 25,084,320 (GRCm39) |
E588G |
possibly damaging |
Het |
Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
Mboat7 |
A |
G |
7: 3,681,687 (GRCm39) |
V398A |
probably benign |
Het |
Slc35e1 |
A |
G |
8: 73,238,735 (GRCm39) |
W258R |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Traf3ip1 |
T |
C |
1: 91,447,822 (GRCm39) |
V433A |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,194,125 (GRCm39) |
D232E |
probably benign |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
Zfp58 |
A |
G |
13: 67,640,231 (GRCm39) |
F87L |
probably benign |
Het |
Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
Het |
|
Other mutations in Sult3a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01984:Sult3a1
|
APN |
10 |
33,755,205 (GRCm39) |
nonsense |
probably null |
|
IGL02269:Sult3a1
|
APN |
10 |
33,755,259 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02302:Sult3a1
|
APN |
10 |
33,742,571 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02947:Sult3a1
|
APN |
10 |
33,740,046 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02966:Sult3a1
|
APN |
10 |
33,753,269 (GRCm39) |
splice site |
probably benign |
|
IGL03271:Sult3a1
|
APN |
10 |
33,739,997 (GRCm39) |
missense |
probably benign |
|
IGL03367:Sult3a1
|
APN |
10 |
33,753,342 (GRCm39) |
missense |
probably benign |
0.01 |
R0539:Sult3a1
|
UTSW |
10 |
33,742,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R0627:Sult3a1
|
UTSW |
10 |
33,740,010 (GRCm39) |
missense |
probably benign |
0.00 |
R0838:Sult3a1
|
UTSW |
10 |
33,755,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R1538:Sult3a1
|
UTSW |
10 |
33,746,166 (GRCm39) |
missense |
probably benign |
0.29 |
R1604:Sult3a1
|
UTSW |
10 |
33,742,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R1622:Sult3a1
|
UTSW |
10 |
33,746,246 (GRCm39) |
missense |
probably benign |
0.39 |
R4933:Sult3a1
|
UTSW |
10 |
33,742,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R5943:Sult3a1
|
UTSW |
10 |
33,742,637 (GRCm39) |
missense |
probably damaging |
0.99 |
R6440:Sult3a1
|
UTSW |
10 |
33,746,198 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7140:Sult3a1
|
UTSW |
10 |
33,753,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R7356:Sult3a1
|
UTSW |
10 |
33,742,579 (GRCm39) |
missense |
probably benign |
0.25 |
R8342:Sult3a1
|
UTSW |
10 |
33,742,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGGCCTATTCTGTATCAATGCC -3'
(R):5'- TTGGCCTGAGTATAAGCACGC -3'
Sequencing Primer
(F):5'- CACCCTGCTTCTGTGAATAAATG -3'
(R):5'- GCGAAGGAAACTTCCCAT -3'
|
Posted On |
2015-02-05 |