Mutagenetix > Incidental Mutation

Incidental Mutation 'R7484:Sgsh'

580010

Institutional Source

Beutler Lab

Gene Symbol

Sgsh

Ensembl Gene

ENSMUSG00000005043

Gene Name

N-sulfoglucosamine sulfohydrolase (sulfamidase)

Synonyms

sulphamidase, 4632406A19Rik

MMRRC Submission

045558-MU

Accession Numbers

Essential gene?

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

Stock #

R7484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119234315-119246336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119237183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 477 (D477V)

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: D477V

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

SMART Domains

Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043
AA Change: D477V

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

probably benign
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

Meta Mutation Damage Score

0.9504

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	G	4: 144,504,521 (GRCm39)	L210P	probably damaging	Het
Acacb	G	A	5: 114,356,923 (GRCm39)	V1285I	probably damaging	Het
Acly	A	T	11: 100,386,789 (GRCm39)	I591N	probably damaging	Het
Acr	T	A	15: 89,457,427 (GRCm39)	V225E	probably damaging	Het
Actr8	A	G	14: 29,714,925 (GRCm39)	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,734 (GRCm39)	Q1592K	probably benign	Het
Aire	T	C	10: 77,878,404 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,056,884 (GRCm39)	Q1789*	probably null	Het
Cbx5	A	C	15: 103,114,256 (GRCm39)		probably null	Het
Cd300lb	A	T	11: 114,819,345 (GRCm39)	W95R	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cenpf	A	G	1: 189,389,018 (GRCm39)	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,114,455 (GRCm39)	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,151,922 (GRCm39)	W454R	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,223,099 (GRCm39)	T104A	possibly damaging	Het
Cyp4a12b	A	G	4: 115,289,760 (GRCm39)	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,546,570 (GRCm39)	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,660,744 (GRCm39)		probably null	Het
Eif3l	T	G	15: 78,968,336 (GRCm39)	C202G	probably benign	Het
Ephx4	T	G	5: 107,577,612 (GRCm39)	M312R	probably damaging	Het
Erich6	A	T	3: 58,534,112 (GRCm39)		probably null	Het
Far2	G	A	6: 148,075,411 (GRCm39)	D424N	probably damaging	Het
Fat1	C	A	8: 45,489,221 (GRCm39)	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Fyb2	A	T	4: 104,870,499 (GRCm39)	H700L	probably benign	Het
Gm8356	T	A	14: 17,691,282 (GRCm39)	M128L	probably benign	Het
Golim4	G	T	3: 75,805,442 (GRCm39)		probably null	Het
Grm1	T	G	10: 10,622,403 (GRCm39)	D440A	probably benign	Het
Gtf2a1	A	G	12: 91,529,747 (GRCm39)	V322A	probably benign	Het
Hid1	T	C	11: 115,243,407 (GRCm39)		probably null	Het
Igfals	G	A	17: 25,098,962 (GRCm39)	V18M	possibly damaging	Het
Klk1b24	G	T	7: 43,839,688 (GRCm39)		probably null	Het
Lmbr1	T	C	5: 29,551,850 (GRCm39)		probably benign	Het
Lrrc40	T	C	3: 157,746,194 (GRCm39)	S90P	probably benign	Het
Mapk9	T	C	11: 49,763,663 (GRCm39)	Y185H	probably damaging	Het
Marveld2	C	T	13: 100,748,068 (GRCm39)	G337D	probably damaging	Het
Mga	G	T	2: 119,776,710 (GRCm39)	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,563,442 (GRCm39)	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,449,893 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,558,064 (GRCm39)	H2743L	unknown	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or10ag60	T	C	2: 87,438,281 (GRCm39)	F183S	probably damaging	Het
Or2l13	A	G	16: 19,305,753 (GRCm39)	H55R	possibly damaging	Het
Plcd3	T	G	11: 102,962,545 (GRCm39)	K635N	probably damaging	Het
Prkch	T	A	12: 73,632,301 (GRCm39)		probably null	Het
Rb1cc1	T	C	1: 6,344,441 (GRCm39)	V1570A	probably damaging	Het
Rp1	T	C	1: 4,415,704 (GRCm39)	N1803D	probably benign	Het
Rufy3	T	A	5: 88,746,331 (GRCm39)	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,613,452 (GRCm39)	Q181*	probably null	Het
Sgcb	A	G	5: 73,797,188 (GRCm39)	F191L	possibly damaging	Het
Shoc1	A	T	4: 59,062,286 (GRCm39)	V924E	probably damaging	Het
Slc22a28	C	A	19: 8,048,492 (GRCm39)	S385I	probably benign	Het
Slc26a3	T	C	12: 31,497,787 (GRCm39)	V47A	probably benign	Het
Slco2a1	A	T	9: 102,945,185 (GRCm39)	I187F	probably damaging	Het
Sltm	T	C	9: 70,481,179 (GRCm39)	S344P	unknown	Het
Sort1	A	G	3: 108,246,141 (GRCm39)	T373A	probably damaging	Het
Stab1	A	G	14: 30,882,274 (GRCm39)	F474L	probably benign	Het
Tbc1d5	G	T	17: 51,224,573 (GRCm39)	A326E	possibly damaging	Het
Tcstv4	A	T	13: 120,770,017 (GRCm39)	K112N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,951,562 (GRCm39)	T425I	probably benign	Het
Zfp30	T	C	7: 29,492,231 (GRCm39)	Y243H	probably benign	Het
Zfp974	A	T	7: 27,611,559 (GRCm39)	N55K	possibly damaging	Het
Zftraf1	A	G	15: 76,530,435 (GRCm39)	L295P	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
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'- GCCTCCTAGGATGGGTATGTAG -3'
(R):5'- GCCATTTCCCATCGACCAAG -3'

Sequencing Primer
(F):5'- AGAAGGTGCAGCTGTTGGTAC -3'
(R):5'- ATCGACCAAGATTTCTATGTCTCG -3'

Posted On

2019-10-07