Incidental Mutation 'PIT4480001:Sulf1'
| ID |
554840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sulf1
|
| Ensembl Gene |
ENSMUSG00000016918 |
| Gene Name |
sulfatase 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
PIT4480001 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
12762501-12931416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12929637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 301
(D301E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088585]
[ENSMUST00000177608]
[ENSMUST00000180062]
[ENSMUST00000185780]
|
| AlphaFold |
Q8K007 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088585
|
| SMART Domains |
Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Sulfatase
|
43 |
374 |
7.7e-59 |
PFAM |
|
Pfam:Phosphodiest
|
61 |
323 |
9.2e-11 |
PFAM |
|
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
|
Pfam:DUF3740
|
533 |
679 |
5e-52 |
PFAM |
|
low complexity region
|
717 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177608
|
| SMART Domains |
Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Sulfatase
|
43 |
374 |
7.7e-59 |
PFAM |
|
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
|
Pfam:DUF3740
|
534 |
678 |
9.7e-52 |
PFAM |
|
low complexity region
|
717 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180062
|
| SMART Domains |
Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Sulfatase
|
43 |
374 |
7.7e-59 |
PFAM |
|
Pfam:Phosphodiest
|
61 |
323 |
9.2e-11 |
PFAM |
|
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
|
Pfam:DUF3740
|
533 |
679 |
5e-52 |
PFAM |
|
low complexity region
|
717 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185780
AA Change: D301E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.7%
- 10x: 83.8%
- 20x: 69.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a null allele display a slight increase in mortality early in life. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
G |
A |
19: 4,917,605 (GRCm39) |
Q413* |
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,740,358 (GRCm39) |
S1238N |
possibly damaging |
Het |
| Arsk |
T |
C |
13: 76,210,484 (GRCm39) |
E521G |
probably damaging |
Het |
| Baiap2 |
A |
G |
11: 119,887,913 (GRCm39) |
T356A |
probably benign |
Het |
| Baz1b |
G |
A |
5: 135,246,819 (GRCm39) |
R756H |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,615 (GRCm39) |
P453S |
probably damaging |
Het |
| Cep41 |
G |
A |
6: 30,658,412 (GRCm39) |
P196S |
probably damaging |
Het |
| Cln5 |
T |
A |
14: 103,309,214 (GRCm39) |
Y89* |
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,905,024 (GRCm39) |
F919S |
probably damaging |
Het |
| Cntrl |
C |
T |
2: 35,045,440 (GRCm39) |
H1383Y |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,592 (GRCm39) |
S1037P |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,659,813 (GRCm39) |
S380T |
probably benign |
Het |
| Cyrib |
G |
A |
15: 63,828,490 (GRCm39) |
T11I |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,238,022 (GRCm39) |
S323T |
probably benign |
Het |
| Dicer1 |
G |
T |
12: 104,662,803 (GRCm39) |
Q1593K |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,078,863 (GRCm39) |
I2367V |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,086,588 (GRCm39) |
S184P |
possibly damaging |
Het |
| Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,114,702 (GRCm39) |
M914K |
probably damaging |
Het |
| Eva1a |
A |
G |
6: 82,068,784 (GRCm39) |
E37G |
probably damaging |
Het |
| Fyco1 |
G |
T |
9: 123,657,715 (GRCm39) |
Y820* |
probably null |
Het |
| Gipr |
T |
C |
7: 18,896,859 (GRCm39) |
Y137C |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,536,181 (GRCm39) |
V148A |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,685 (GRCm39) |
V79A |
probably damaging |
Het |
| Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
| Inpp4b |
A |
C |
8: 82,772,896 (GRCm39) |
E730A |
probably damaging |
Het |
| Inpp5f |
C |
T |
7: 128,286,858 (GRCm39) |
T579I |
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,840,608 (GRCm39) |
M1201L |
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,801,254 (GRCm39) |
N631S |
possibly damaging |
Het |
| Mdh1 |
G |
A |
11: 21,508,538 (GRCm39) |
S268L |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,103 (GRCm39) |
T314S |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,361,731 (GRCm39) |
Q233R |
probably benign |
Het |
| Or11g1 |
T |
C |
14: 50,651,372 (GRCm39) |
F124L |
probably benign |
Het |
| Or5w17 |
T |
C |
2: 87,584,127 (GRCm39) |
D70G |
possibly damaging |
Het |
| Paqr5 |
T |
A |
9: 61,863,438 (GRCm39) |
I295L |
probably benign |
Het |
| Peg10 |
C |
T |
6: 4,756,560 (GRCm39) |
H379Y |
unknown |
Het |
| Phtf2 |
A |
T |
5: 21,018,242 (GRCm39) |
I33N |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,553,977 (GRCm39) |
M115V |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,003,576 (GRCm39) |
Y431H |
possibly damaging |
Het |
| Prph2 |
GT |
G |
17: 47,222,039 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
C |
T |
1: 86,055,960 (GRCm39) |
P774L |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,247,340 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,304,977 (GRCm39) |
D770G |
possibly damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,087 (GRCm39) |
L439P |
probably damaging |
Het |
| Slitrk6 |
TTTTAGTCTGTTCTACCAACACCTT |
TTT |
14: 110,987,257 (GRCm39) |
|
probably null |
Het |
| Sox6 |
T |
C |
7: 115,196,744 (GRCm39) |
I295M |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,586 (GRCm39) |
M4475V |
probably benign |
Het |
| Tas2r117 |
G |
A |
6: 132,780,014 (GRCm39) |
V51I |
possibly damaging |
Het |
| Tbx2 |
C |
T |
11: 85,725,561 (GRCm39) |
R171C |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,402,955 (GRCm39) |
I320V |
probably benign |
Het |
| Tjp3 |
C |
A |
10: 81,115,091 (GRCm39) |
G396W |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,400,460 (GRCm39) |
N4D |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,883,071 (GRCm39) |
N165D |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,802 (GRCm39) |
Y138F |
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,632,817 (GRCm39) |
S267P |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,940,328 (GRCm39) |
L803* |
probably null |
Het |
| Zbbx |
T |
A |
3: 75,043,794 (GRCm39) |
D35V |
probably damaging |
Het |
| Zscan12 |
T |
G |
13: 21,552,744 (GRCm39) |
N189K |
possibly damaging |
Het |
|
| Other mutations in Sulf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Sulf1
|
APN |
1 |
12,890,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00788:Sulf1
|
APN |
1 |
12,918,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00845:Sulf1
|
APN |
1 |
12,867,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01606:Sulf1
|
APN |
1 |
12,906,428 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01963:Sulf1
|
APN |
1 |
12,888,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01968:Sulf1
|
APN |
1 |
12,888,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02072:Sulf1
|
APN |
1 |
12,918,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02424:Sulf1
|
APN |
1 |
12,867,064 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02519:Sulf1
|
APN |
1 |
12,908,587 (GRCm39) |
nonsense |
probably null |
|
|
IGL02601:Sulf1
|
APN |
1 |
12,856,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03066:Sulf1
|
APN |
1 |
12,878,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03200:Sulf1
|
APN |
1 |
12,856,841 (GRCm39) |
nonsense |
probably null |
|
|
PIT4519001:Sulf1
|
UTSW |
1 |
12,918,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Sulf1
|
UTSW |
1 |
12,887,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0467:Sulf1
|
UTSW |
1 |
12,867,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Sulf1
|
UTSW |
1 |
12,875,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Sulf1
|
UTSW |
1 |
12,887,716 (GRCm39) |
splice site |
probably null |
|
|
R1083:Sulf1
|
UTSW |
1 |
12,906,388 (GRCm39) |
frame shift |
probably null |
|
|
R1084:Sulf1
|
UTSW |
1 |
12,906,388 (GRCm39) |
frame shift |
probably null |
|
|
R1498:Sulf1
|
UTSW |
1 |
12,918,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Sulf1
|
UTSW |
1 |
12,887,574 (GRCm39) |
nonsense |
probably null |
|
|
R1854:Sulf1
|
UTSW |
1 |
12,908,661 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1942:Sulf1
|
UTSW |
1 |
12,918,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Sulf1
|
UTSW |
1 |
12,867,131 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1998:Sulf1
|
UTSW |
1 |
12,929,058 (GRCm39) |
nonsense |
probably null |
|
|
R2034:Sulf1
|
UTSW |
1 |
12,890,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Sulf1
|
UTSW |
1 |
12,910,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Sulf1
|
UTSW |
1 |
12,918,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2277:Sulf1
|
UTSW |
1 |
12,867,018 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3827:Sulf1
|
UTSW |
1 |
12,887,656 (GRCm39) |
missense |
probably benign |
|
|
R3874:Sulf1
|
UTSW |
1 |
12,887,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4488:Sulf1
|
UTSW |
1 |
12,856,739 (GRCm39) |
start gained |
probably benign |
|
|
R4619:Sulf1
|
UTSW |
1 |
12,856,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4743:Sulf1
|
UTSW |
1 |
12,906,517 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4836:Sulf1
|
UTSW |
1 |
12,912,910 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4918:Sulf1
|
UTSW |
1 |
12,888,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4958:Sulf1
|
UTSW |
1 |
12,867,134 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5216:Sulf1
|
UTSW |
1 |
12,867,098 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5225:Sulf1
|
UTSW |
1 |
12,911,702 (GRCm39) |
missense |
probably benign |
|
|
R5427:Sulf1
|
UTSW |
1 |
12,867,136 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5450:Sulf1
|
UTSW |
1 |
12,867,131 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5909:Sulf1
|
UTSW |
1 |
12,929,039 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5912:Sulf1
|
UTSW |
1 |
12,856,976 (GRCm39) |
unclassified |
probably benign |
|
|
R5966:Sulf1
|
UTSW |
1 |
12,929,636 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6339:Sulf1
|
UTSW |
1 |
12,908,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Sulf1
|
UTSW |
1 |
12,908,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Sulf1
|
UTSW |
1 |
12,912,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Sulf1
|
UTSW |
1 |
12,908,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Sulf1
|
UTSW |
1 |
12,929,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7275:Sulf1
|
UTSW |
1 |
12,921,189 (GRCm39) |
splice site |
probably null |
|
|
R7386:Sulf1
|
UTSW |
1 |
12,908,585 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7611:Sulf1
|
UTSW |
1 |
12,906,467 (GRCm39) |
missense |
probably benign |
|
|
R7732:Sulf1
|
UTSW |
1 |
12,913,013 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7796:Sulf1
|
UTSW |
1 |
12,929,044 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7898:Sulf1
|
UTSW |
1 |
12,875,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Sulf1
|
UTSW |
1 |
12,929,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8003:Sulf1
|
UTSW |
1 |
12,908,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8684:Sulf1
|
UTSW |
1 |
12,867,004 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8714:Sulf1
|
UTSW |
1 |
12,878,141 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8723:Sulf1
|
UTSW |
1 |
12,856,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Sulf1
|
UTSW |
1 |
12,906,499 (GRCm39) |
missense |
probably benign |
|
|
R9055:Sulf1
|
UTSW |
1 |
12,878,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Sulf1
|
UTSW |
1 |
12,878,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Sulf1
|
UTSW |
1 |
12,856,827 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9358:Sulf1
|
UTSW |
1 |
12,890,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Sulf1
|
UTSW |
1 |
12,908,778 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9462:Sulf1
|
UTSW |
1 |
12,929,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Sulf1
|
UTSW |
1 |
12,918,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9581:Sulf1
|
UTSW |
1 |
12,875,478 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9664:Sulf1
|
UTSW |
1 |
12,891,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAACGTTAAGTCCAGAGAG -3'
(R):5'- TCGAGATTTGGTAGCCACTCC -3'
Sequencing Primer
(F):5'- CTTGAATGGGATAATGACATTCCAG -3'
(R):5'- AGATTTGGTAGCCACTCCTTTGTATC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation