Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Sgsh'

276746

Institutional Source

Beutler Lab

Gene Symbol

Sgsh

Ensembl Gene

ENSMUSG00000005043

Gene Name

N-sulfoglucosamine sulfohydrolase (sulfamidase)

Synonyms

sulphamidase, 4632406A19Rik

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R3874 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

119234315-119246336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119241773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 111 (L111P)

Ref Sequence

ENSEMBL: ENSMUSP00000097748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005173] [ENSMUST00000050880] [ENSMUST00000100172] [ENSMUST00000136523]

AlphaFold

Q9EQ08

Predicted Effect

probably damaging
Transcript: ENSMUST00000005173
AA Change: L111P

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

SMART Domains

Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043
AA Change: L111P

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 benign
Transcript: ENSMUST00000050880

SMART Domains

Protein: ENSMUSP00000050999
Gene: ENSMUSG00000039908

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	31	424	1.8e-97	PFAM
transmembrane domain	426	448	N/A	INTRINSIC
Pfam:STAS	453	559	3.6e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100172
AA Change: L111P

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

SMART Domains

Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043
AA Change: L111P

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: ENSMUST00000123634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133507

Predicted Effect

probably damaging
Transcript: ENSMUST00000136523
AA Change: S84P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115587
Gene: ENSMUSG00000005043
AA Change: S84P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147366

Meta Mutation Damage Score

0.9700

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,012,301 (GRCm39)	G26*	probably null	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061 (GRCm38)	I407T	probably benign	Het
Adam8	T	C	7: 139,567,520 (GRCm39)	N408D	probably damaging	Het
Adgre1	A	T	17: 57,708,925 (GRCm39)	T39S	probably benign	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Arid1b	T	A	17: 5,386,790 (GRCm39)		probably null	Het
Atp2c2	A	G	8: 120,462,035 (GRCm39)	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,827,118 (GRCm39)	V144I	probably benign	Het
Camk4	A	G	18: 33,291,907 (GRCm39)	E189G	possibly damaging	Het
Casz1	A	G	4: 149,024,046 (GRCm39)		probably benign	Het
Ccdc134	T	C	15: 82,015,643 (GRCm39)	V41A	possibly damaging	Het
Chrd	A	T	16: 20,557,660 (GRCm39)	T753S	probably damaging	Het
Cracd	A	G	5: 76,988,739 (GRCm39)	D30G	probably damaging	Het
Cyb561a3	T	C	19: 10,562,735 (GRCm39)	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606 (GRCm39)	T69S	probably benign	Het
Dchs1	A	G	7: 105,410,842 (GRCm39)	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnai2	G	T	11: 114,623,781 (GRCm39)	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,410,109 (GRCm39)	I526V	probably benign	Het
Far2	G	A	6: 148,052,089 (GRCm39)	E123K	probably benign	Het
Gli1	A	T	10: 127,166,088 (GRCm39)	V1055E	probably damaging	Het
Hand2	G	T	8: 57,775,011 (GRCm39)	A24S	probably benign	Het
Helb	T	C	10: 119,941,942 (GRCm39)	I249V	probably benign	Het
Hspa4l	G	A	3: 40,727,074 (GRCm39)	V492M	probably damaging	Het
Hspg2	T	C	4: 137,266,660 (GRCm39)	I1916T	probably damaging	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Kcnu1	T	A	8: 26,375,345 (GRCm39)	L353H	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Klhl13	T	C	X: 23,151,415 (GRCm39)	D21G	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Mansc1	T	C	6: 134,587,146 (GRCm39)	R344G	possibly damaging	Het
Mier2	G	T	10: 79,377,631 (GRCm39)	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,358,957 (GRCm39)		probably null	Het
Nedd4l	G	A	18: 65,300,606 (GRCm39)	A243T	probably benign	Het
Notch4	T	A	17: 34,797,043 (GRCm39)	C934*	probably null	Het
Nsmce3	C	T	7: 64,521,916 (GRCm39)	D251N	probably damaging	Het
Or10a49	C	T	7: 108,468,335 (GRCm39)	V9M	probably damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or3a10	A	G	11: 73,935,525 (GRCm39)	C192R	probably damaging	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Or8g23	A	G	9: 38,971,470 (GRCm39)	I164T	probably benign	Het
Pdzd7	T	C	19: 45,034,067 (GRCm39)	T6A	probably benign	Het
Picalm	T	A	7: 89,838,427 (GRCm39)	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,900,651 (GRCm39)	M1T	probably null	Het
Prl8a1	T	C	13: 27,759,441 (GRCm39)	K199E	possibly damaging	Het
Rims1	C	T	1: 22,498,740 (GRCm39)	R764H	probably damaging	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,833,916 (GRCm39)	L294P	probably damaging	Het
Slc22a30	G	T	19: 8,314,213 (GRCm39)	T491K	probably benign	Het
Slc35b3	T	C	13: 39,127,044 (GRCm39)	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,017,489 (GRCm39)	F429L	probably benign	Het
Sulf1	T	C	1: 12,887,636 (GRCm39)	I270T	probably damaging	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Tnc	T	A	4: 63,926,947 (GRCm39)	I860F	probably damaging	Het
Trh	A	T	6: 92,220,679 (GRCm39)	V61E	possibly damaging	Het
Ttn	T	G	2: 76,584,443 (GRCm39)	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,338,494 (GRCm39)	K652*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,831,954 (GRCm39)	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,627,032 (GRCm39)	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,315,856 (GRCm39)	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,722,317 (GRCm39)	A332T	probably benign	Het
Zfp568	T	A	7: 29,722,821 (GRCm39)	C589S	probably damaging	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
R2571:Sgsh	UTSW	11	119,241,340 (GRCm39)	missense	probably damaging	1.00
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
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'- ACAAAGTGGCCTTGCACCTG -3'
(R):5'- CTTTTACAGAGACAGGGCCTAGG -3'

Sequencing Primer
(F):5'- ACCTGCATCCTGTCCTCAG -3'
(R):5'- AGCTCACTGTGCAGCTG -3'

Posted On

2015-04-06