Incidental Mutation 'R1942:Sulf1'
| ID |
216258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sulf1
|
| Ensembl Gene |
ENSMUSG00000016918 |
| Gene Name |
sulfatase 1 |
| Synonyms |
|
| MMRRC Submission |
039960-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R1942 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
12762501-12931416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12918397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 38
(F38S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088585]
[ENSMUST00000177608]
[ENSMUST00000180062]
[ENSMUST00000185780]
[ENSMUST00000186051]
|
| AlphaFold |
Q8K007 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088585
AA Change: F787S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000085949
Gene: ENSMUSG00000016918
AA Change: F787S
| 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 |
possibly damaging
Transcript: ENSMUST00000177608
AA Change: F787S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137523
Gene: ENSMUSG00000016918
AA Change: F787S
| 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 |
possibly damaging
Transcript: ENSMUST00000180062
AA Change: F787S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136014
Gene: ENSMUSG00000016918
AA Change: F787S
| 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 damaging
Transcript: ENSMUST00000185780
AA Change: F38S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186051
AA Change: F787S
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141153
Gene: ENSMUSG00000016918
AA Change: F787S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Sulfatase
|
43 |
374 |
7.4e-56 |
PFAM |
|
Pfam:Phosphodiest
|
61 |
323 |
9.6e-8 |
PFAM |
|
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
|
Pfam:DUF3740
|
533 |
679 |
1.1e-48 |
PFAM |
|
low complexity region
|
717 |
737 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3280 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,949,625 (GRCm39) |
Y1174F |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,992,447 (GRCm39) |
E4577G |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 53,004,056 (GRCm39) |
V291A |
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,345,218 (GRCm39) |
E136G |
possibly damaging |
Het |
| Arhgap20 |
C |
A |
9: 51,742,998 (GRCm39) |
Q279K |
probably benign |
Het |
| B3galnt1 |
A |
T |
3: 69,483,258 (GRCm39) |
M1K |
probably null |
Het |
| C4bp |
C |
A |
1: 130,583,804 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
G |
A |
7: 28,906,232 (GRCm39) |
T157I |
possibly damaging |
Het |
| Cfap90 |
A |
C |
13: 68,761,090 (GRCm39) |
I171L |
probably benign |
Het |
| Chrm1 |
T |
A |
19: 8,655,637 (GRCm39) |
M114K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,429,078 (GRCm39) |
E329G |
possibly damaging |
Het |
| Clrn2 |
A |
C |
5: 45,611,337 (GRCm39) |
Y62S |
probably benign |
Het |
| Col12a1 |
T |
G |
9: 79,542,748 (GRCm39) |
D2339A |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,939,455 (GRCm39) |
L564Q |
probably damaging |
Het |
| Cpeb2 |
C |
A |
5: 43,392,596 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,572,573 (GRCm39) |
M647K |
probably damaging |
Het |
| Diaph3 |
C |
T |
14: 87,378,556 (GRCm39) |
|
probably benign |
Het |
| Eomes |
A |
G |
9: 118,313,716 (GRCm39) |
D587G |
probably benign |
Het |
| Gm5142 |
T |
A |
14: 59,416,156 (GRCm39) |
M1L |
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,923,957 (GRCm39) |
I12V |
probably benign |
Het |
| Gprin1 |
C |
T |
13: 54,887,752 (GRCm39) |
C174Y |
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,709,730 (GRCm39) |
V1272E |
possibly damaging |
Het |
| Hdac9 |
A |
G |
12: 34,479,544 (GRCm39) |
L227S |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,493,318 (GRCm39) |
L247Q |
probably benign |
Het |
| Hs6st1 |
T |
C |
1: 36,107,803 (GRCm39) |
V22A |
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,269,863 (GRCm39) |
A2304E |
possibly damaging |
Het |
| Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
| Il1rap |
A |
C |
16: 26,541,205 (GRCm39) |
E482A |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,689,670 (GRCm39) |
L581* |
probably null |
Het |
| Msmb |
A |
G |
14: 31,870,034 (GRCm39) |
E2G |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,776,666 (GRCm39) |
|
noncoding transcript |
Het |
| Muc4 |
A |
C |
16: 32,569,460 (GRCm39) |
L173F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,411,421 (GRCm39) |
S1456C |
unknown |
Het |
| Mylip |
A |
T |
13: 45,560,172 (GRCm39) |
I203F |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,952,039 (GRCm39) |
D1504E |
probably damaging |
Het |
| Neil1 |
C |
G |
9: 57,053,891 (GRCm39) |
R143P |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,325,447 (GRCm39) |
T742S |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,859,978 (GRCm39) |
V214A |
probably damaging |
Het |
| Nsun7 |
C |
T |
5: 66,441,588 (GRCm39) |
T419I |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,058,544 (GRCm39) |
E648K |
probably benign |
Het |
| Or10g6 |
T |
A |
9: 39,934,031 (GRCm39) |
L114H |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,934,048 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or2y1c |
T |
C |
11: 49,360,981 (GRCm39) |
M1T |
probably null |
Het |
| Or8s2 |
A |
G |
15: 98,276,445 (GRCm39) |
L182P |
probably damaging |
Het |
| Parp11 |
A |
C |
6: 127,447,663 (GRCm39) |
|
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,012,472 (GRCm39) |
|
probably null |
Het |
| Ppp1r14c |
T |
C |
10: 3,413,417 (GRCm39) |
I150T |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,295,805 (GRCm39) |
E908G |
probably damaging |
Het |
| Psmd6 |
A |
T |
14: 14,116,442 (GRCm38) |
V91E |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,406,830 (GRCm39) |
V634D |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
| Rbm45 |
G |
A |
2: 76,205,823 (GRCm39) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,578,416 (GRCm39) |
|
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,282,689 (GRCm39) |
K416E |
probably damaging |
Het |
| Six5 |
C |
T |
7: 18,830,858 (GRCm39) |
A495V |
possibly damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,689,870 (GRCm39) |
M112K |
probably damaging |
Het |
| Slc5a4a |
T |
C |
10: 75,983,422 (GRCm39) |
S20P |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,757,326 (GRCm39) |
|
probably benign |
Het |
| Sntb2 |
G |
A |
8: 107,737,984 (GRCm39) |
A511T |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,416,061 (GRCm39) |
N622I |
probably damaging |
Het |
| Szt2 |
G |
T |
4: 118,249,817 (GRCm39) |
T521K |
probably benign |
Het |
| Terf1 |
G |
T |
1: 15,876,038 (GRCm39) |
R46I |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,923,511 (GRCm39) |
|
probably benign |
Het |
| Tmigd1 |
T |
C |
11: 76,804,905 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Umod |
A |
G |
7: 119,076,155 (GRCm39) |
Y204H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,851,543 (GRCm39) |
Q1139L |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,668 (GRCm39) |
T159S |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,562 (GRCm39) |
S779T |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,200,722 (GRCm39) |
A412T |
probably damaging |
Het |
| Zc3h12d |
A |
C |
10: 7,729,077 (GRCm39) |
D147A |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,243,272 (GRCm39) |
D564E |
probably benign |
Het |
| Zfp932 |
A |
G |
5: 110,154,853 (GRCm39) |
E17G |
probably 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 |
|
|
PIT4480001:Sulf1
|
UTSW |
1 |
12,929,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- GTCATTGACAGCCAATCACAGC -3'
(R):5'- AAGATGCTCCGTTCTACTGTGTG -3'
Sequencing Primer
(F):5'- TTGACAGCCAATCACAGCACTTAG -3'
(R):5'- ATGCTCCGTTCTACTGTGTGTACTG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation