Incidental Mutation 'R1412:Hs3st5'
| ID |
159641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hs3st5
|
| Ensembl Gene |
ENSMUSG00000044499 |
| Gene Name |
heparan sulfate (glucosamine) 3-O-sulfotransferase 5 |
| Synonyms |
LOC382362, D930005L05Rik |
| MMRRC Submission |
039468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
36382810-36710393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36708672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 69
(H69L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058738]
[ENSMUST00000167191]
[ENSMUST00000168572]
|
| AlphaFold |
Q8BSL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058738
AA Change: H69L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000060229
Gene: ENSMUSG00000044499
AA Change: H69L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
90 |
339 |
5.5e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167191
AA Change: H69L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000130778
Gene: ENSMUSG00000044499
AA Change: H69L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
90 |
339 |
5.5e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168572
AA Change: H69L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000129434
Gene: ENSMUSG00000044499
AA Change: H69L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
90 |
339 |
5.5e-38 |
PFAM |
|
| Meta Mutation Damage Score |
0.0730 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,165,495 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
A |
G |
7: 117,719,591 (GRCm39) |
I179T |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
| Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
| Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
T |
11: 102,347,831 (GRCm39) |
L890Q |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,402 (GRCm39) |
F262L |
probably damaging |
Het |
| Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,127,284 (GRCm39) |
L51P |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
| Pdlim2 |
A |
T |
14: 70,411,773 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
| Raly |
A |
G |
2: 154,699,315 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
possibly damaging |
Het |
|
| Other mutations in Hs3st5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Hs3st5
|
APN |
10 |
36,708,918 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00913:Hs3st5
|
APN |
10 |
36,708,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01407:Hs3st5
|
APN |
10 |
36,709,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Hs3st5
|
APN |
10 |
36,709,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02396:Hs3st5
|
APN |
10 |
36,704,699 (GRCm39) |
start codon destroyed |
probably benign |
0.08 |
|
IGL03351:Hs3st5
|
APN |
10 |
36,709,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Hs3st5
|
UTSW |
10 |
36,708,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1443:Hs3st5
|
UTSW |
10 |
36,709,410 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1493:Hs3st5
|
UTSW |
10 |
36,708,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Hs3st5
|
UTSW |
10 |
36,709,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1792:Hs3st5
|
UTSW |
10 |
36,708,720 (GRCm39) |
missense |
probably benign |
|
|
R1991:Hs3st5
|
UTSW |
10 |
36,708,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Hs3st5
|
UTSW |
10 |
36,708,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4330:Hs3st5
|
UTSW |
10 |
36,708,726 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4610:Hs3st5
|
UTSW |
10 |
36,704,802 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5459:Hs3st5
|
UTSW |
10 |
36,704,742 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5561:Hs3st5
|
UTSW |
10 |
36,709,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Hs3st5
|
UTSW |
10 |
36,708,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Hs3st5
|
UTSW |
10 |
36,708,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7326:Hs3st5
|
UTSW |
10 |
36,709,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Hs3st5
|
UTSW |
10 |
36,709,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Hs3st5
|
UTSW |
10 |
36,704,776 (GRCm39) |
nonsense |
probably null |
|
|
R9147:Hs3st5
|
UTSW |
10 |
36,708,917 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9372:Hs3st5
|
UTSW |
10 |
36,708,698 (GRCm39) |
nonsense |
probably null |
|
|
R9497:Hs3st5
|
UTSW |
10 |
36,709,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGGCACAGATGCAGAATG -3'
(R):5'- GGCTCCCTGACAATGATCAACAGC -3'
Sequencing Primer
(F):5'- TGCAGAATGAAGAGAAGTATATTGTG -3'
(R):5'- CCTGACAATGATCAACAGCTTGATG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation