Mutagenetix > Incidental Mutation

Incidental Mutation 'R8912:Sgsh'

678704

Institutional Source

Beutler Lab

Gene Symbol

Sgsh

Ensembl Gene

ENSMUSG00000005043

Gene Name

N-sulfoglucosamine sulfohydrolase (sulfamidase)

Synonyms

sulphamidase, 4632406A19Rik

MMRRC Submission

068765-MU

Accession Numbers

Essential gene?

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

Stock #

R8912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119234315-119246336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119243486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 79 (T79A)

Ref Sequence

ENSEMBL: ENSMUSP00000005173 (fasta)

Gene Model

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

AlphaFold

Q9EQ08

Predicted Effect

probably damaging
Transcript: ENSMUST00000005173
AA Change: T79A

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

SMART Domains

Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043
AA Change: T79A

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: T79A

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

SMART Domains

Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043
AA Change: T79A

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	C	T	5: 113,861,767 (GRCm39)	W34*	probably null	Het
Adck5	T	C	15: 76,477,435 (GRCm39)	S90P	probably damaging	Het
Adgra3	C	A	5: 50,118,273 (GRCm39)	A1092S	possibly damaging	Het
Arhgap33	A	T	7: 30,232,467 (GRCm39)		probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp6ap1l	T	A	13: 91,046,979 (GRCm39)		probably null	Het
Brd2	A	T	17: 34,332,458 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,260,097 (GRCm39)		probably benign	Het
Ciao1	A	G	2: 127,088,599 (GRCm39)	V108A	possibly damaging	Het
Clba1	T	C	12: 112,779,323 (GRCm39)	V320A	possibly damaging	Het
Dnah3	T	A	7: 119,689,869 (GRCm39)	H22L	probably benign	Het
Dnajc6	A	G	4: 101,468,513 (GRCm39)	Y251C	probably damaging	Het
Dsg2	T	A	18: 20,715,878 (GRCm39)	N273K	probably damaging	Het
Egf	A	G	3: 129,531,164 (GRCm39)	V137A	possibly damaging	Het
Ercc6	C	T	14: 32,248,211 (GRCm39)	P254L	probably benign	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fbln2	A	G	6: 91,240,420 (GRCm39)	E789G	possibly damaging	Het
Fbxl13	T	G	5: 21,727,184 (GRCm39)	D571A	probably damaging	Het
Fbxw26	T	A	9: 109,561,717 (GRCm39)	E159V	probably damaging	Het
Fndc1	T	C	17: 8,019,778 (GRCm39)	I134V	probably null	Het
Fsip2	A	G	2: 82,810,938 (GRCm39)	D2419G	probably benign	Het
Gm3371	T	C	14: 44,641,238 (GRCm39)	K109E		Het
Gm5414	A	G	15: 101,536,620 (GRCm39)	S2P	possibly damaging	Het
Igkv1-110	G	T	6: 68,247,950 (GRCm39)	D20Y	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ippk	A	G	13: 49,603,513 (GRCm39)	D422G	probably damaging	Het
Irs2	A	T	8: 11,056,655 (GRCm39)	D592E	probably damaging	Het
Klra9	A	G	6: 130,159,368 (GRCm39)	I215T	probably damaging	Het
Lrrc8b	T	A	5: 105,629,424 (GRCm39)	L590Q	probably damaging	Het
Myh10	A	G	11: 68,680,929 (GRCm39)		probably null	Het
Neto1	A	G	18: 86,479,173 (GRCm39)	D159G	probably damaging	Het
Nr1d2	T	C	14: 18,220,030 (GRCm38)	K104E	probably damaging	Het
Nrcam	T	C	12: 44,645,366 (GRCm39)	V1256A	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Or13e8	T	A	4: 43,697,017 (GRCm39)	D52V	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Or9m1b	C	T	2: 87,836,661 (GRCm39)	A145T	possibly damaging	Het
Patj	A	G	4: 98,385,565 (GRCm39)	H444R		Het
Pclo	T	C	5: 14,825,335 (GRCm39)	L1356P		Het
Pde4dip	A	G	3: 97,617,633 (GRCm39)	S1732P	probably damaging	Het
Pi4ka	A	T	16: 17,207,230 (GRCm39)	I25N		Het
Pira13	A	T	7: 3,825,818 (GRCm39)	D350E	unknown	Het
Pou2f3	C	A	9: 43,110,336 (GRCm39)	V30L	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Reck	T	A	4: 43,938,802 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,475,323 (GRCm39)		probably benign	Het
Serinc1	A	C	10: 57,400,075 (GRCm39)	S191A	probably benign	Het
Sgo2a	T	C	1: 58,056,560 (GRCm39)	S915P	probably damaging	Het
Sik1	A	G	17: 32,069,919 (GRCm39)	V207A	possibly damaging	Het
Skap1	A	T	11: 96,644,902 (GRCm39)	I338F	probably damaging	Het
Skic3	T	A	13: 76,305,361 (GRCm39)		probably benign	Het
Sowahc	G	T	10: 59,057,813 (GRCm39)		probably benign	Het
Spata31d1d	T	C	13: 59,875,136 (GRCm39)	K800E	possibly damaging	Het
Spin1	T	A	13: 51,298,433 (GRCm39)	W151R	probably damaging	Het
Srfbp1	A	G	18: 52,623,686 (GRCm39)	T438A	possibly damaging	Het
Srrm2	A	G	17: 24,038,575 (GRCm39)	T1740A	probably benign	Het
Tacr1	A	T	6: 82,534,014 (GRCm39)	S347C	probably damaging	Het
Taf1b	T	C	12: 24,566,860 (GRCm39)	S185P	possibly damaging	Het
Tanc2	C	T	11: 105,758,153 (GRCm39)	T638I	probably benign	Het
Tdrkh	T	C	3: 94,336,478 (GRCm39)	Y472H	probably damaging	Het
Trav4-2	C	G	14: 53,656,266 (GRCm39)	Y89*	probably null	Het
Trpm1	G	T	7: 63,918,628 (GRCm39)	R1540L	probably benign	Het
Ttc21a	T	C	9: 119,770,367 (GRCm39)		probably null	Het
Tti1	A	G	2: 157,851,188 (GRCm39)	V17A	probably benign	Het
Vamp8	A	G	6: 72,365,276 (GRCm39)	L44P	probably benign	Het
Vmn1r63	G	T	7: 5,806,131 (GRCm39)	S167Y	probably damaging	Het
Xrn2	T	C	2: 146,891,913 (GRCm39)	V710A	probably benign	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfyve28	T	C	5: 34,374,655 (GRCm39)	D453G	probably benign	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
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
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'- TTAGTCACTGAGCCAGCTGAAC -3'
(R):5'- TGCAGCAGTACCCTAGGTATCC -3'

Sequencing Primer
(F):5'- AGCTGAACTGAGGGGTGTG -3'
(R):5'- GTACCCTAGGTATCCCCCAG -3'

Posted On

2021-08-02