Mutagenetix > Incidental Mutation

Incidental Mutation 'R7552:Sgsh'

584499

Institutional Source

Beutler Lab

Gene Symbol

Sgsh

Ensembl Gene

ENSMUSG00000005043

Gene Name

N-sulfoglucosamine sulfohydrolase (sulfamidase)

Synonyms

sulphamidase, 4632406A19Rik

MMRRC Submission

045621-MU

Accession Numbers

Essential gene?

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

Stock #

R7552 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119234315-119246336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119237378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 412 (L412Q)

Ref Sequence

ENSEMBL: ENSMUSP00000005173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005173] [ENSMUST00000053245] [ENSMUST00000100172] [ENSMUST00000106250] [ENSMUST00000136523]

AlphaFold

Q9EQ08

Predicted Effect

probably damaging
Transcript: ENSMUST00000005173
AA Change: L412Q

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

SMART Domains

Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043
AA Change: L412Q

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: ENSMUST00000053245

SMART Domains

Protein: ENSMUSP00000053665
Gene: ENSMUSG00000013483

Domain	Start	End	E-Value	Type
Pfam:CARD	20	106	4.1e-25	PFAM
coiled coil region	126	173	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC
low complexity region	262	275	N/A	INTRINSIC
coiled coil region	280	377	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	473	483	N/A	INTRINSIC
low complexity region	541	551	N/A	INTRINSIC
PDZ	578	657	5.51e-3	SMART
Blast:SH3	676	735	4e-25	BLAST
low complexity region	736	746	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
Blast:GuKc	826	989	4e-63	BLAST
SCOP:d1kjwa2	855	994	2e-11	SMART

Predicted Effect

silent
Transcript: ENSMUST00000100172

SMART Domains

Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043

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

probably benign
Transcript: ENSMUST00000106250

SMART Domains

Protein: ENSMUSP00000101857
Gene: ENSMUSG00000013483

Domain	Start	End	E-Value	Type
Pfam:CARD	20	106	2.8e-25	PFAM
coiled coil region	126	173	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC
low complexity region	262	275	N/A	INTRINSIC
coiled coil region	280	377	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	473	483	N/A	INTRINSIC
low complexity region	541	551	N/A	INTRINSIC
PDZ	578	657	5.51e-3	SMART
Blast:SH3	676	735	4e-25	BLAST
low complexity region	736	746	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
Blast:GuKc	826	989	4e-63	BLAST
SCOP:d1kjwa2	855	994	2e-11	SMART

Predicted Effect

probably benign
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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (89/89)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	G	10: 80,419,737 (GRCm39)	Y290H	probably benign	Het
Aco2	T	C	15: 81,788,142 (GRCm39)	V257A	probably damaging	Het
Adam26a	C	A	8: 44,023,007 (GRCm39)	C161F	possibly damaging	Het
Adam9	G	A	8: 25,445,988 (GRCm39)	P820S	unknown	Het
Adcy4	G	A	14: 56,010,922 (GRCm39)	T665M	probably benign	Het
Ahnak	T	A	19: 8,984,188 (GRCm39)	M1824K	probably benign	Het
Alpi	T	C	1: 87,026,795 (GRCm39)	N428D	probably benign	Het
Ano5	C	T	7: 51,196,528 (GRCm39)	P153L	probably benign	Het
Atp1a1	A	T	3: 101,489,437 (GRCm39)	L725*	probably null	Het
Atp8b2	G	A	3: 89,854,071 (GRCm39)	T595I	probably damaging	Het
Ccdc66	T	C	14: 27,220,820 (GRCm39)	I35V	possibly damaging	Het
Cd163	A	G	6: 124,284,187 (GRCm39)	T120A	probably benign	Het
Cmah	A	T	13: 24,640,938 (GRCm39)	T396S	possibly damaging	Het
Cmya5	C	T	13: 93,205,820 (GRCm39)	V3350I	probably benign	Het
Commd9	A	C	2: 101,731,410 (GRCm39)	K198N	probably damaging	Het
Cxcr1	A	G	1: 74,231,773 (GRCm39)	V83A	probably benign	Het
D630045J12Rik	A	G	6: 38,125,383 (GRCm39)	S1544P	probably damaging	Het
Ddt	A	T	10: 75,609,048 (GRCm39)		probably null	Het
Depdc7	A	G	2: 104,557,585 (GRCm39)	S222P	possibly damaging	Het
Ehd2	A	G	7: 15,684,431 (GRCm39)	I456T	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Esr1	G	A	10: 4,806,903 (GRCm39)	R273H	probably damaging	Het
Fras1	G	A	5: 96,916,297 (GRCm39)	D3444N	probably damaging	Het
Hand2	A	G	8: 57,775,272 (GRCm39)	R111G	probably damaging	Het
Hecw1	A	T	13: 14,490,835 (GRCm39)	V306E	probably damaging	Het
Ift140	T	C	17: 25,252,089 (GRCm39)	I312T	probably benign	Het
Ikbke	A	T	1: 131,199,887 (GRCm39)	L257*	probably null	Het
Kcnk5	G	A	14: 20,192,349 (GRCm39)	P271S	probably benign	Het
Lama1	T	C	17: 68,044,662 (GRCm39)	V187A		Het
Lemd2	A	T	17: 27,412,810 (GRCm39)		probably null	Het
Lig3	T	A	11: 82,679,717 (GRCm39)	D341E	probably benign	Het
Lpcat1	C	T	13: 73,643,014 (GRCm39)	S196L	probably damaging	Het
Lrp1b	A	T	2: 40,567,582 (GRCm39)	D4048E		Het
Lrrfip1	G	A	1: 91,033,005 (GRCm39)	E158K	probably damaging	Het
Mcm5	T	C	8: 75,848,220 (GRCm39)	S490P	probably damaging	Het
Mia3	A	C	1: 183,147,036 (GRCm39)	Y73*	probably null	Het
Minar1	T	A	9: 89,483,888 (GRCm39)	H503L	probably benign	Het
Msr1	A	T	8: 40,077,003 (GRCm39)	N202K	probably benign	Het
N4bp2l2	A	T	5: 150,585,286 (GRCm39)	Y231*	probably null	Het
Nbeal2	A	G	9: 110,482,985 (GRCm39)	W11R	probably benign	Het
Ncor1	T	C	11: 62,264,250 (GRCm39)	E384G	possibly damaging	Het
Neb	A	G	2: 52,137,202 (GRCm39)	V254A		Het
Nlrp9b	T	C	7: 19,779,691 (GRCm39)	S785P	probably benign	Het
Oprd1	T	G	4: 131,841,092 (GRCm39)	I289L	possibly damaging	Het
Or4c10	G	T	2: 89,761,064 (GRCm39)	D304Y	probably benign	Het
Or4s2	A	G	2: 88,473,752 (GRCm39)	I214V	probably benign	Het
Or5m12	A	G	2: 85,734,447 (GRCm39)	V317A	probably benign	Het
Or6a2	T	C	7: 106,600,534 (GRCm39)	T178A	probably benign	Het
Or6c2	T	A	10: 129,362,429 (GRCm39)	F111Y	possibly damaging	Het
Orc1	A	G	4: 108,445,951 (GRCm39)	N23S	probably benign	Het
Paip1	A	T	13: 119,577,356 (GRCm39)	H149L	possibly damaging	Het
Pdhx	A	T	2: 102,877,099 (GRCm39)	D103E	probably benign	Het
Pi4ka	T	C	16: 17,109,080 (GRCm39)	Y1614C		Het
Pias3	ACC	AC	3: 96,608,701 (GRCm39)		probably null	Het
Pigb	A	G	9: 72,941,770 (GRCm39)	V163A	probably benign	Het
Pla2g4d	A	G	2: 120,114,620 (GRCm39)	I37T	possibly damaging	Het
Ppfia1	A	T	7: 144,059,982 (GRCm39)	V610D	probably damaging	Het
Pramel41	G	A	5: 94,596,394 (GRCm39)	C477Y	probably damaging	Het
Prss1	T	C	6: 41,439,507 (GRCm39)	V80A	probably benign	Het
Psph	G	A	5: 129,847,800 (GRCm39)	R49W	probably benign	Het
Qrich2	T	C	11: 116,347,080 (GRCm39)	Y1248C	possibly damaging	Het
Rlbp1	T	A	7: 79,029,861 (GRCm39)	Y124F	probably damaging	Het
Scn4a	T	A	11: 106,239,995 (GRCm39)	E74V	probably benign	Het
Sdk2	A	T	11: 113,764,039 (GRCm39)	I249N	possibly damaging	Het
Shank1	C	A	7: 44,002,452 (GRCm39)	D1390E	probably benign	Het
Slc12a6	A	G	2: 112,172,319 (GRCm39)	D421G	probably damaging	Het
Snx29	T	A	16: 11,238,649 (GRCm39)		probably null	Het
Spata31d1c	A	G	13: 65,183,937 (GRCm39)	Y493C	probably damaging	Het
Stmn4	G	A	14: 66,593,727 (GRCm39)	G40E	probably damaging	Het
Stox2	A	G	8: 47,656,154 (GRCm39)		probably null	Het
Strada	T	C	11: 106,077,830 (GRCm39)	S45G	unknown	Het
Taco1	G	A	11: 105,962,774 (GRCm39)	G154S	probably benign	Het
Tas2r121	T	C	6: 132,677,505 (GRCm39)	M156V	probably benign	Het
Tbc1d31	A	G	15: 57,804,136 (GRCm39)	S384G	probably benign	Het
Tbc1d9	A	T	8: 83,966,560 (GRCm39)	D387V	probably damaging	Het
Tet3	A	G	6: 83,345,289 (GRCm39)	L1716P	probably damaging	Het
Thbs1	A	G	2: 117,943,843 (GRCm39)	K154E	possibly damaging	Het
Ush2a	T	C	1: 187,999,241 (GRCm39)	Y184H	possibly damaging	Het
Vmn1r235	C	A	17: 21,481,713 (GRCm39)	Q13K	probably benign	Het
Vmn2r15	A	T	5: 109,440,774 (GRCm39)	Y361*	probably null	Het
Vmn2r88	A	T	14: 51,648,315 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,248,831 (GRCm39)	V460A	probably benign	Het
Wdr64	A	G	1: 175,613,147 (GRCm39)	N674S	possibly damaging	Het
Zfp592	A	G	7: 80,673,390 (GRCm39)	D118G	probably benign	Het
Zfp763	A	G	17: 33,237,625 (GRCm39)	Y507H	probably benign	Het
Zfp934	T	C	13: 62,640,705 (GRCm39)	E16G	probably damaging	Het
Zfyve26	G	A	12: 79,337,731 (GRCm39)	L94F	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
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
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'- CATTGCCACTTGACAAGCTG -3'
(R):5'- AAGACGATCCAGCTCACAGG -3'

Sequencing Primer
(F):5'- ATGTCGTAGAGTTCCCAG -3'
(R):5'- GATCCAGCTCACAGGCCGATC -3'

Posted On

2019-10-17