Incidental Mutation 'R1594:Sulf2'
ID |
175543 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sulf2
|
Ensembl Gene |
ENSMUSG00000006800 |
Gene Name |
sulfatase 2 |
Synonyms |
2010004N24Rik |
MMRRC Submission |
039631-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.313)
|
Stock # |
R1594 (G1)
|
Quality Score |
128 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
165915819-165997603 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 165926367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088086]
[ENSMUST00000109249]
[ENSMUST00000146497]
|
AlphaFold |
Q8CFG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088086
|
SMART Domains |
Protein: ENSMUSP00000085405 Gene: ENSMUSG00000006800
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Sulfatase
|
44 |
375 |
2.8e-50 |
PFAM |
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
Pfam:DUF3740
|
533 |
669 |
5.6e-47 |
PFAM |
low complexity region
|
702 |
720 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109249
|
SMART Domains |
Protein: ENSMUSP00000104872 Gene: ENSMUSG00000006800
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Sulfatase
|
44 |
375 |
2.8e-50 |
PFAM |
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
Pfam:DUF3740
|
532 |
670 |
1.3e-46 |
PFAM |
low complexity region
|
702 |
720 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146497
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
100% (55/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous disruption of this gene may lead to a partially penetrant, strain-dependent phenotype of embryonic lethality, reduced postnatal body weight, lung abnormalities, brain malformations, and reduced fertility. Mice homozygous for a hypomorphic gene-trap allele display skeletal defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
G |
A |
16: 30,946,205 (GRCm39) |
A264V |
probably benign |
Het |
Adam17 |
A |
G |
12: 21,390,471 (GRCm39) |
|
probably null |
Het |
Adcy10 |
A |
G |
1: 165,352,602 (GRCm39) |
N479D |
probably benign |
Het |
C2cd2l |
A |
G |
9: 44,228,070 (GRCm39) |
S84P |
probably damaging |
Het |
Capn13 |
A |
G |
17: 73,658,474 (GRCm39) |
V198A |
probably benign |
Het |
Cblc |
G |
A |
7: 19,526,471 (GRCm39) |
S206F |
probably damaging |
Het |
Ccdc7b |
A |
T |
8: 129,904,838 (GRCm39) |
T159S |
possibly damaging |
Het |
Clpx |
A |
G |
9: 65,231,552 (GRCm39) |
T546A |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,948,870 (GRCm39) |
V214A |
possibly damaging |
Het |
Csgalnact1 |
A |
T |
8: 68,811,284 (GRCm39) |
V462E |
probably damaging |
Het |
Cts6 |
G |
A |
13: 61,346,181 (GRCm39) |
T202I |
probably damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
D630003M21Rik |
T |
A |
2: 158,053,550 (GRCm39) |
Q646L |
probably damaging |
Het |
E2f2 |
A |
G |
4: 135,914,141 (GRCm39) |
Q297R |
possibly damaging |
Het |
Eef1d |
T |
C |
15: 75,768,195 (GRCm39) |
E189G |
probably damaging |
Het |
Fam114a2 |
A |
C |
11: 57,404,066 (GRCm39) |
|
probably null |
Het |
Fam24b |
A |
C |
7: 130,928,025 (GRCm39) |
Y55D |
probably benign |
Het |
Gimap6 |
T |
C |
6: 48,679,125 (GRCm39) |
T304A |
probably benign |
Het |
Gm11232 |
T |
C |
4: 71,675,572 (GRCm39) |
E63G |
possibly damaging |
Het |
Hbs1l |
A |
G |
10: 21,227,922 (GRCm39) |
M152V |
probably benign |
Het |
Herc3 |
C |
A |
6: 58,864,569 (GRCm39) |
|
probably benign |
Het |
Hmx2 |
A |
G |
7: 131,157,231 (GRCm39) |
D115G |
probably benign |
Het |
Igsf3 |
C |
A |
3: 101,358,393 (GRCm39) |
Y761* |
probably null |
Het |
Kbtbd13 |
A |
G |
9: 65,298,901 (GRCm39) |
W12R |
probably benign |
Het |
Kif2c |
C |
A |
4: 117,035,385 (GRCm39) |
R21L |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,519,876 (GRCm39) |
N2078S |
probably benign |
Het |
Mgst3 |
T |
A |
1: 167,201,379 (GRCm39) |
Y102F |
probably damaging |
Het |
Mov10 |
G |
T |
3: 104,702,727 (GRCm39) |
T946N |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,344,450 (GRCm39) |
I2317N |
possibly damaging |
Het |
Nid2 |
T |
A |
14: 19,831,329 (GRCm39) |
I741N |
probably benign |
Het |
Nlrp9a |
G |
A |
7: 26,269,932 (GRCm39) |
W786* |
probably null |
Het |
Or8g20 |
A |
C |
9: 39,396,042 (GRCm39) |
I166S |
probably benign |
Het |
Or9a7 |
T |
C |
6: 40,521,281 (GRCm39) |
I211V |
probably benign |
Het |
Pi4ka |
G |
T |
16: 17,191,283 (GRCm39) |
|
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,812,310 (GRCm39) |
|
probably benign |
Het |
Psg16 |
A |
G |
7: 16,827,748 (GRCm39) |
T144A |
probably damaging |
Het |
Sec24b |
A |
G |
3: 129,785,000 (GRCm39) |
V1002A |
probably benign |
Het |
Shank1 |
A |
T |
7: 43,976,647 (GRCm39) |
K582* |
probably null |
Het |
Slc22a7 |
T |
C |
17: 46,748,957 (GRCm39) |
D120G |
possibly damaging |
Het |
Slco6c1 |
T |
A |
1: 96,990,163 (GRCm39) |
T676S |
probably benign |
Het |
Tgm1 |
T |
C |
14: 55,946,976 (GRCm39) |
D344G |
probably damaging |
Het |
Tle4 |
C |
T |
19: 14,430,970 (GRCm39) |
W604* |
probably null |
Het |
Tmco3 |
T |
C |
8: 13,342,052 (GRCm39) |
S109P |
probably damaging |
Het |
Unc13d |
T |
G |
11: 115,959,538 (GRCm39) |
D647A |
probably benign |
Het |
Usp19 |
T |
C |
9: 108,375,721 (GRCm39) |
V887A |
probably damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,550 (GRCm39) |
D727E |
probably damaging |
Het |
Ypel1 |
A |
G |
16: 16,899,985 (GRCm39) |
H72R |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,227,456 (GRCm39) |
V2051A |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,213,515 (GRCm39) |
L481P |
possibly damaging |
Het |
Zfp850 |
C |
A |
7: 27,688,816 (GRCm39) |
R464L |
probably benign |
Het |
Zfp985 |
T |
C |
4: 147,667,537 (GRCm39) |
V135A |
probably benign |
Het |
|
Other mutations in Sulf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00844:Sulf2
|
APN |
2 |
165,936,412 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01353:Sulf2
|
APN |
2 |
165,929,015 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02427:Sulf2
|
APN |
2 |
165,931,218 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02602:Sulf2
|
APN |
2 |
165,923,220 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02681:Sulf2
|
APN |
2 |
165,958,905 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03047:Sulf2
|
APN |
2 |
165,922,814 (GRCm39) |
splice site |
probably null |
|
PIT4468001:Sulf2
|
UTSW |
2 |
165,922,720 (GRCm39) |
missense |
probably benign |
|
R0029:Sulf2
|
UTSW |
2 |
165,958,893 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0029:Sulf2
|
UTSW |
2 |
165,958,893 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0233:Sulf2
|
UTSW |
2 |
165,927,589 (GRCm39) |
splice site |
probably benign |
|
R0332:Sulf2
|
UTSW |
2 |
165,931,119 (GRCm39) |
missense |
probably benign |
0.00 |
R0411:Sulf2
|
UTSW |
2 |
165,935,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R0599:Sulf2
|
UTSW |
2 |
165,925,799 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0694:Sulf2
|
UTSW |
2 |
165,927,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1710:Sulf2
|
UTSW |
2 |
165,920,992 (GRCm39) |
missense |
probably benign |
|
R1725:Sulf2
|
UTSW |
2 |
165,923,281 (GRCm39) |
missense |
probably damaging |
0.96 |
R1737:Sulf2
|
UTSW |
2 |
165,924,598 (GRCm39) |
missense |
probably benign |
0.01 |
R1775:Sulf2
|
UTSW |
2 |
165,921,532 (GRCm39) |
missense |
probably benign |
0.07 |
R2001:Sulf2
|
UTSW |
2 |
165,922,773 (GRCm39) |
missense |
probably benign |
0.05 |
R2570:Sulf2
|
UTSW |
2 |
165,927,721 (GRCm39) |
missense |
probably benign |
0.21 |
R4052:Sulf2
|
UTSW |
2 |
165,936,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Sulf2
|
UTSW |
2 |
165,919,497 (GRCm39) |
missense |
probably benign |
0.01 |
R4613:Sulf2
|
UTSW |
2 |
165,974,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Sulf2
|
UTSW |
2 |
165,931,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Sulf2
|
UTSW |
2 |
165,923,524 (GRCm39) |
missense |
probably benign |
0.00 |
R5033:Sulf2
|
UTSW |
2 |
165,923,542 (GRCm39) |
missense |
probably benign |
0.01 |
R5692:Sulf2
|
UTSW |
2 |
165,923,426 (GRCm39) |
missense |
probably benign |
0.03 |
R5695:Sulf2
|
UTSW |
2 |
165,974,678 (GRCm39) |
missense |
probably benign |
0.03 |
R6504:Sulf2
|
UTSW |
2 |
165,925,841 (GRCm39) |
missense |
probably benign |
0.00 |
R6816:Sulf2
|
UTSW |
2 |
165,924,674 (GRCm39) |
missense |
probably benign |
|
R6859:Sulf2
|
UTSW |
2 |
165,929,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R6873:Sulf2
|
UTSW |
2 |
165,931,195 (GRCm39) |
missense |
probably damaging |
0.97 |
R7125:Sulf2
|
UTSW |
2 |
165,917,448 (GRCm39) |
nonsense |
probably null |
|
R7329:Sulf2
|
UTSW |
2 |
165,959,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R7343:Sulf2
|
UTSW |
2 |
165,919,536 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7669:Sulf2
|
UTSW |
2 |
165,935,516 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7833:Sulf2
|
UTSW |
2 |
165,921,456 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8421:Sulf2
|
UTSW |
2 |
165,958,972 (GRCm39) |
missense |
probably benign |
0.11 |
R8430:Sulf2
|
UTSW |
2 |
165,916,736 (GRCm39) |
missense |
probably benign |
0.03 |
R8861:Sulf2
|
UTSW |
2 |
165,974,606 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9285:Sulf2
|
UTSW |
2 |
165,935,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R9410:Sulf2
|
UTSW |
2 |
165,936,444 (GRCm39) |
missense |
|
|
RF016:Sulf2
|
UTSW |
2 |
165,924,523 (GRCm39) |
missense |
probably benign |
0.01 |
X0063:Sulf2
|
UTSW |
2 |
165,921,053 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCGAATTCTGCATGAGCCACCC -3'
(R):5'- TGCAAATGCCCATGTAACTGTACCC -3'
Sequencing Primer
(F):5'- CACCCAATTGTGACAGGGAATTTG -3'
(R):5'- CATGTAACTGTACCCATTTCAACC -3'
|
Posted On |
2014-04-24 |