Mutagenetix > Incidental Mutation

Incidental Mutation 'R2571:Sgsh'

252571

Institutional Source

Beutler Lab

Gene Symbol

Sgsh

Ensembl Gene

ENSMUSG00000005043

Gene Name

N-sulfoglucosamine sulfohydrolase (sulfamidase)

Synonyms

sulphamidase, 4632406A19Rik

MMRRC Submission

040429-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R2571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119234315-119246336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119241340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 132 (Y132H)

Ref Sequence

ENSEMBL: ENSMUSP00000097748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005173] [ENSMUST00000100172] [ENSMUST00000136523]

AlphaFold

Q9EQ08

Predicted Effect

probably damaging
Transcript: ENSMUST00000005173
AA Change: Y132H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043
AA Change: Y132H

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	23	328	2.6e-60	PFAM
Pfam:Phosphodiest	25	287	5.2e-8	PFAM
low complexity region	348	357	N/A	INTRINSIC
Pfam:DUF4976	400	477	1.5e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100172
AA Change: Y132H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043
AA Change: Y132H

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	23	250	1.7e-35	PFAM
Pfam:Phosphodiest	25	237	2.7e-8	PFAM
low complexity region	311	329	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133507

Predicted Effect

silent
Transcript: ENSMUST00000136523

SMART Domains

Protein: ENSMUSP00000115587
Gene: ENSMUSG00000005043

Domain	Start	End	E-Value	Type
PDB:4MIV\|H	1	30	1e-5	PDB
low complexity region	40	56	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141540

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele die prematurely displaying low sulfamidase activity, variable lysosomal storage in various brain cell types and other tissues, heparan sulfate-uria, scruffy coats, corneal opacities, bladder distension, hydronephrosis, hepatosplenomegaly and bone deformities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,289,044 (GRCm39)	N2438S	probably benign	Het
Ago3	G	A	4: 126,257,604 (GRCm39)	R476W	probably damaging	Het
Akap8	T	C	17: 32,534,429 (GRCm39)	E339G	probably damaging	Het
Apba2	T	C	7: 64,395,498 (GRCm39)	V658A	probably damaging	Het
Bcl3	T	C	7: 19,543,452 (GRCm39)	D338G	probably damaging	Het
Bpnt2	C	T	4: 4,778,192 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,349,044 (GRCm39)	Y197H	probably benign	Het
Ccdc162	T	A	10: 41,428,393 (GRCm39)	Q499L	probably damaging	Het
Ccser1	G	A	6: 61,399,944 (GRCm39)	C21Y	probably damaging	Het
Chil6	A	T	3: 106,297,709 (GRCm39)	Y229*	probably null	Het
Cntnap5a	C	T	1: 116,112,092 (GRCm39)	R461C	probably damaging	Het
Col19a1	T	A	1: 24,413,712 (GRCm39)	R407S	unknown	Het
Crlf3	A	T	11: 79,938,339 (GRCm39)	F433I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah10	A	T	5: 124,852,542 (GRCm39)	R1867W	probably damaging	Het
Dsg3	T	C	18: 20,673,062 (GRCm39)	V911A	probably benign	Het
Dzip3	T	C	16: 48,792,581 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,128,795 (GRCm39)	Q10R	unknown	Het
Glra3	C	T	8: 56,563,516 (GRCm39)	A337V	probably benign	Het
H2-T5	C	T	17: 36,478,553 (GRCm39)	G132R	possibly damaging	Het
Hcfc2	T	C	10: 82,544,857 (GRCm39)	F163S	probably damaging	Het
Hells	T	C	19: 38,948,177 (GRCm39)	V701A	possibly damaging	Het
Helz	A	G	11: 107,504,778 (GRCm39)	T422A	probably benign	Het
Hhat	G	A	1: 192,235,330 (GRCm39)	T442I	probably damaging	Het
Hmces	A	T	6: 87,913,202 (GRCm39)	Q319L	possibly damaging	Het
Ighv1-62-1	T	A	12: 115,350,377 (GRCm39)	T97S	probably damaging	Het
Kcne2	C	T	16: 92,093,800 (GRCm39)	T109I	probably damaging	Het
Kcnq1	T	G	7: 142,661,433 (GRCm39)	L113R	probably benign	Het
Kdm5d	T	C	Y: 940,932 (GRCm39)	S1106P	probably benign	Het
Kel	C	A	6: 41,665,001 (GRCm39)	A588S	possibly damaging	Het
Kmt2e	T	A	5: 23,706,885 (GRCm39)	F1483I	probably benign	Het
Krt4	T	A	15: 101,829,692 (GRCm39)	N279Y	probably damaging	Het
Lama4	T	A	10: 38,918,671 (GRCm39)	M384K	possibly damaging	Het
Lepr	C	T	4: 101,625,369 (GRCm39)	T508I	possibly damaging	Het
Lypd10	A	G	7: 24,412,819 (GRCm39)	I76V	probably benign	Het
Map1lc3b	T	A	8: 122,320,213 (GRCm39)		probably null	Het
Me1	T	C	9: 86,536,751 (GRCm39)	H108R	probably damaging	Het
Mindy4	T	C	6: 55,261,770 (GRCm39)	S560P	probably damaging	Het
Mmp3	T	A	9: 7,451,844 (GRCm39)	I394N	possibly damaging	Het
Mmrn2	T	C	14: 34,124,896 (GRCm39)	S826P	probably damaging	Het
Or13n4	T	A	7: 106,422,933 (GRCm39)	M267L	probably benign	Het
Osbpl7	T	C	11: 96,945,667 (GRCm39)	L138P	probably damaging	Het
Pcdhga11	G	A	18: 37,889,921 (GRCm39)	E310K	probably damaging	Het
Pcif1	A	G	2: 164,726,131 (GRCm39)	D39G	probably damaging	Het
Ppp1r21	C	T	17: 88,852,810 (GRCm39)	T63I	probably benign	Het
Prickle2	T	C	6: 92,682,381 (GRCm39)	Q25R	probably benign	Het
Ptk2	A	G	15: 73,103,768 (GRCm39)	L94P	probably damaging	Het
Ptprg	T	C	14: 12,122,135 (GRCm38)	F333S	probably benign	Het
Rag2	T	A	2: 101,460,312 (GRCm39)	H207Q	probably damaging	Het
Rps6ka1	G	T	4: 133,587,923 (GRCm39)		probably null	Het
Rps6ka4	G	T	19: 6,815,471 (GRCm39)	H174Q	probably damaging	Het
Rreb1	C	A	13: 38,083,613 (GRCm39)	T92K	probably damaging	Het
Ryr1	A	T	7: 28,708,987 (GRCm39)	M4793K	unknown	Het
Ryr1	T	A	7: 28,735,551 (GRCm39)	M4076L	possibly damaging	Het
Sec16a	A	C	2: 26,329,343 (GRCm39)	S891A	probably benign	Het
Sos2	T	A	12: 69,682,492 (GRCm39)	E242V	possibly damaging	Het
Spata31d1c	G	T	13: 65,184,198 (GRCm39)	R580L	probably damaging	Het
Spata9	C	A	13: 76,115,880 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,875,194 (GRCm39)	V202E	probably damaging	Het
Thada	T	C	17: 84,762,068 (GRCm39)	K168E	probably damaging	Het
Tmem64	T	C	4: 15,266,718 (GRCm39)	I256T	probably damaging	Het
Tra2a	G	T	6: 49,229,421 (GRCm39)		probably benign	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Ttc13	A	C	8: 125,410,538 (GRCm39)	Y372D	probably damaging	Het
Vit	T	C	17: 78,894,174 (GRCm39)	V192A	probably benign	Het
Vmn2r69	T	C	7: 85,064,764 (GRCm39)	T41A	probably benign	Het
Vps13d	C	A	4: 144,875,706 (GRCm39)	K1600N	probably benign	Het
Xpnpep3	A	T	15: 81,335,127 (GRCm39)	H420L	probably damaging	Het
Zfp322a	A	G	13: 23,540,614 (GRCm39)	L376P	probably damaging	Het
Zfp619	T	C	7: 39,186,595 (GRCm39)	L875P	probably damaging	Het
Zic5	T	A	14: 122,696,890 (GRCm39)	Q575L	unknown	Het

Other mutations in Sgsh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Sgsh	APN	11	119,237,311 (GRCm39)	missense	probably benign
IGL01549:Sgsh	APN	11	119,241,755 (GRCm39)	missense	probably damaging	0.99
IGL02110:Sgsh	APN	11	119,243,632 (GRCm39)	missense	probably damaging	1.00
IGL02878:Sgsh	APN	11	119,237,384 (GRCm39)	missense	probably damaging	1.00
hindenburg	UTSW	11	119,241,773 (GRCm39)	missense	probably damaging	1.00
ludendorff	UTSW	11	119,237,183 (GRCm39)	missense	probably damaging	1.00
BB005:Sgsh	UTSW	11	119,238,561 (GRCm39)	missense	probably benign	0.03
BB015:Sgsh	UTSW	11	119,238,561 (GRCm39)	missense	probably benign	0.03
R1187:Sgsh	UTSW	11	119,237,404 (GRCm39)	nonsense	probably null
R2342:Sgsh	UTSW	11	119,238,540 (GRCm39)	missense	probably benign	0.01
R2472:Sgsh	UTSW	11	119,246,300 (GRCm39)	missense	possibly damaging	0.83
R3872:Sgsh	UTSW	11	119,241,773 (GRCm39)	missense	probably damaging	1.00
R3873:Sgsh	UTSW	11	119,241,773 (GRCm39)	missense	probably damaging	1.00
R3874:Sgsh	UTSW	11	119,241,773 (GRCm39)	missense	probably damaging	1.00
R3875:Sgsh	UTSW	11	119,241,773 (GRCm39)	missense	probably damaging	1.00
R5075:Sgsh	UTSW	11	119,237,594 (GRCm39)	missense	probably benign	0.34
R5660:Sgsh	UTSW	11	119,241,807 (GRCm39)	missense	probably damaging	1.00
R5938:Sgsh	UTSW	11	119,237,625 (GRCm39)	missense	probably benign	0.08
R7302:Sgsh	UTSW	11	119,238,525 (GRCm39)	missense	probably benign	0.02
R7484:Sgsh	UTSW	11	119,237,183 (GRCm39)	missense	probably damaging	1.00
R7533:Sgsh	UTSW	11	119,238,696 (GRCm39)	missense	probably damaging	1.00
R7552:Sgsh	UTSW	11	119,237,378 (GRCm39)	missense	probably damaging	1.00
R7928:Sgsh	UTSW	11	119,238,561 (GRCm39)	missense	probably benign	0.03
R7958:Sgsh	UTSW	11	119,243,599 (GRCm39)	missense	probably damaging	0.98
R8013:Sgsh	UTSW	11	119,243,521 (GRCm39)	missense	probably damaging	0.97
R8014:Sgsh	UTSW	11	119,243,521 (GRCm39)	missense	probably damaging	0.97
R8912:Sgsh	UTSW	11	119,243,486 (GRCm39)	missense	probably damaging	1.00
R9504:Sgsh	UTSW	11	119,237,375 (GRCm39)	missense	probably benign	0.23
R9584:Sgsh	UTSW	11	119,241,789 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- TGGAGAATGTTTTCCTCTGCCC -3'
(R):5'- CTCAGCTCATGAAGTCCTCC -3'

Sequencing Primer
(F):5'- TCAACTGTGGACCCTAGGATGAC -3'
(R):5'- CGTGAGCACTTGTCCTAAGAGTC -3'

Posted On

2014-12-04