Mutagenetix > Incidental Mutation

Incidental Mutation 'R7608:Galns'

588443

Institutional Source

Beutler Lab

Gene Symbol

Galns

Ensembl Gene

ENSMUSG00000015027

Gene Name

galactosamine (N-acetyl)-6-sulfatase

Synonyms

N-acetylgalactosamine-6-sulfate sulfatase

MMRRC Submission

045678-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7608 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

123304981-123338202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123318184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 410 (F410S)

Ref Sequence

ENSEMBL: ENSMUSP00000015171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015171] [ENSMUST00000127664] [ENSMUST00000212319]

AlphaFold

Q571E4

Predicted Effect

probably benign
Transcript: ENSMUST00000015171
AA Change: F410S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000015171
Gene: ENSMUSG00000015027
AA Change: F410S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Sulfatase	28	353	2.3e-91	PFAM
Pfam:Phosphodiest	30	315	2.1e-11	PFAM
Pfam:Sulfatase_C	376	507	2.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212319

Meta Mutation Damage Score

0.1890

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,154,347 (GRCm39)	F311S	probably benign	Het
Adamts7	C	A	9: 90,055,826 (GRCm39)	T193N	possibly damaging	Het
Akr1b7	A	G	6: 34,397,457 (GRCm39)	N273S	probably damaging	Het
Asz1	G	A	6: 18,077,252 (GRCm39)	T151M	probably damaging	Het
Atosb	A	G	4: 43,036,533 (GRCm39)	L66P	probably damaging	Het
Atrnl1	T	A	19: 57,703,119 (GRCm39)	Y1046N	probably damaging	Het
Cacna2d1	T	C	5: 16,564,022 (GRCm39)	S902P	probably damaging	Het
Casp3	T	A	8: 47,087,368 (GRCm39)	I105K	probably benign	Het
Ccdc146	C	T	5: 21,506,450 (GRCm39)	V664I	probably benign	Het
Cfap61	G	A	2: 145,805,451 (GRCm39)	C267Y	possibly damaging	Het
Dgkz	A	T	2: 91,764,399 (GRCm39)		probably null	Het
Dnah11	G	T	12: 118,104,505 (GRCm39)		probably null	Het
Duox1	C	A	2: 122,156,616 (GRCm39)	Y514*	probably null	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fan1	A	T	7: 64,003,979 (GRCm39)		probably null	Het
Fgfrl1	A	T	5: 108,853,211 (GRCm39)	K278M	probably damaging	Het
Fign	T	C	2: 63,809,063 (GRCm39)	I736V	possibly damaging	Het
Hspbp1	C	A	7: 4,663,821 (GRCm39)	K341N	possibly damaging	Het
Idh3b	A	T	2: 130,122,900 (GRCm39)	S296R	probably damaging	Het
Ifi44	A	G	3: 151,438,045 (GRCm39)	F414S	probably damaging	Het
Kdm3a	T	A	6: 71,577,731 (GRCm39)	M690L	probably benign	Het
Ldaf1	A	G	7: 119,704,011 (GRCm39)	K19E	probably damaging	Het
Lrrc49	C	T	9: 60,510,005 (GRCm39)	G488S	probably null	Het
Mcc	T	C	18: 44,624,294 (GRCm39)	N417S	possibly damaging	Het
Melk	T	A	4: 44,325,571 (GRCm39)		probably null	Het
Mtcl1	T	C	17: 66,650,300 (GRCm39)	R1722G	probably damaging	Het
Or4a79	A	G	2: 89,551,642 (GRCm39)	V271A	probably benign	Het
Or51f23c-ps1	A	G	7: 102,431,132 (GRCm39)	I150V	probably benign	Het
Or5b119	G	A	19: 13,456,956 (GRCm39)	T202I	possibly damaging	Het
Or8d2	T	A	9: 38,759,806 (GRCm39)	V132D	possibly damaging	Het
Pdzrn3	T	C	6: 101,128,713 (GRCm39)	E651G	probably damaging	Het
Pop5	A	G	5: 115,375,931 (GRCm39)		probably benign	Het
Prox1	T	A	1: 189,885,642 (GRCm39)	M602L	probably benign	Het
Prpf39	G	A	12: 65,100,220 (GRCm39)	A298T	probably benign	Het
Scg2	T	C	1: 79,413,898 (GRCm39)	E275G	probably benign	Het
Scn11a	A	T	9: 119,644,379 (GRCm39)		probably null	Het
Slc16a4	A	T	3: 107,210,443 (GRCm39)	Y371F	probably damaging	Het
Slc4a1ap	T	A	5: 31,693,533 (GRCm39)	M489K	possibly damaging	Het
Spata13	A	G	14: 60,929,956 (GRCm39)	N505D	possibly damaging	Het
Tas2r129	A	G	6: 132,928,156 (GRCm39)	N31S	probably damaging	Het
Tnn	A	T	1: 159,915,984 (GRCm39)	Y1508*	probably null	Het
Trim23	T	C	13: 104,328,541 (GRCm39)	V354A	probably benign	Het
Tsc1	A	T	2: 28,548,748 (GRCm39)	T18S	probably benign	Het
Txlnb	A	G	10: 17,691,146 (GRCm39)	K232R	probably damaging	Het
Vmn1r53	C	T	6: 90,201,104 (GRCm39)	M73I	probably benign	Het
Vmn1r67	G	A	7: 10,181,290 (GRCm39)	V185M	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,276 (GRCm39)	I99T	probably benign	Het
Zfp318	T	G	17: 46,710,935 (GRCm39)	V886G	probably damaging	Het
Zfp760	A	G	17: 21,941,797 (GRCm39)	N324S	probably benign	Het
Zfp819	T	C	7: 43,266,357 (GRCm39)	V280A	probably benign	Het

Other mutations in Galns

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:Galns	APN	8	123,325,365 (GRCm39)	missense	probably damaging	1.00
IGL02401:Galns	APN	8	123,331,938 (GRCm39)	missense	probably damaging	1.00
brimstone	UTSW	8	123,327,349 (GRCm39)	missense	probably damaging	1.00
fiend	UTSW	8	123,338,077 (GRCm39)	start codon destroyed	probably null
vesuvius	UTSW	8	123,326,087 (GRCm39)	splice site	probably null
R0001:Galns	UTSW	8	123,322,622 (GRCm39)	splice site	probably benign
R0018:Galns	UTSW	8	123,311,724 (GRCm39)	missense	probably benign	0.09
R1417:Galns	UTSW	8	123,311,652 (GRCm39)	missense	possibly damaging	0.71
R1636:Galns	UTSW	8	123,330,955 (GRCm39)	splice site	probably benign
R4729:Galns	UTSW	8	123,330,195 (GRCm39)	missense	probably damaging	1.00
R4851:Galns	UTSW	8	123,327,272 (GRCm39)	missense	probably damaging	1.00
R4891:Galns	UTSW	8	123,325,895 (GRCm39)	missense	possibly damaging	0.92
R5218:Galns	UTSW	8	123,325,328 (GRCm39)	missense	probably damaging	0.99
R5532:Galns	UTSW	8	123,311,765 (GRCm39)	missense	possibly damaging	0.83
R6323:Galns	UTSW	8	123,325,390 (GRCm39)	missense	probably damaging	1.00
R6444:Galns	UTSW	8	123,338,077 (GRCm39)	start codon destroyed	probably null
R6495:Galns	UTSW	8	123,327,349 (GRCm39)	missense	probably damaging	1.00
R7215:Galns	UTSW	8	123,326,087 (GRCm39)	splice site	probably null
R7612:Galns	UTSW	8	123,311,693 (GRCm39)	missense	possibly damaging	0.71
R9568:Galns	UTSW	8	123,311,649 (GRCm39)	critical splice donor site	probably null
Z1177:Galns	UTSW	8	123,331,945 (GRCm39)	missense	probably damaging	1.00
Z1177:Galns	UTSW	8	123,325,262 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- ATCTCTACATCTGGACATCTAGGC -3'
(R):5'- ATGTCAGCCGATACCTACCC -3'

Sequencing Primer
(F):5'- TCTGGACATCTAGGCATGAAAAC -3'
(R):5'- GGAGGCATGGGCAGCTC -3'

Posted On

2019-10-24