Mutagenetix > Incidental Mutation

Incidental Mutation 'R4574:Sumf1'

342333

Institutional Source

Beutler Lab

Gene Symbol

Sumf1

Ensembl Gene

ENSMUSG00000030101

Gene Name

sulfatase modifying factor 1

Synonyms

MMRRC Submission

041797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R4574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108083989-108162543 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 108085393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032191] [ENSMUST00000167338] [ENSMUST00000172188]

AlphaFold

Q8R0F3

Predicted Effect

probably benign
Transcript: ENSMUST00000032191

SMART Domains

Protein: ENSMUSP00000032191
Gene: ENSMUSG00000030101

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	40	51	N/A	INTRINSIC
Pfam:FGE-sulfatase	85	365	1.4e-93	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166197

Predicted Effect

probably benign
Transcript: ENSMUST00000167338

SMART Domains

Protein: ENSMUSP00000127537
Gene: ENSMUSG00000030101

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	40	51	N/A	INTRINSIC
Pfam:FGE-sulfatase	85	340	1.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172188

SMART Domains

Protein: ENSMUSP00000132321
Gene: ENSMUSG00000030101

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	40	51	N/A	INTRINSIC
Pfam:FGE-sulfatase	85	149	9.5e-18	PFAM
Pfam:FGE-sulfatase	144	233	4.9e-30	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes lacking all sulfatase activities exhibit frequent early postnatal lethality and growth retardation, skeletal anomalies, neurological defects, and massive GAG accumulation and cell vacuolization in all tissues in association with systemic inflammation, apoptosis, and neurodegeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Adamts9	G	A	6: 92,856,940 (GRCm39)	R319*	probably null	Het
Anapc1	G	T	2: 128,469,115 (GRCm39)	S1575R	probably damaging	Het
Appbp2	A	T	11: 85,100,764 (GRCm39)		probably null	Het
Bcas2	C	T	3: 103,081,666 (GRCm39)	P90S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cd101	T	C	3: 100,920,469 (GRCm39)	N477D	probably benign	Het
Cdk12	A	G	11: 98,111,814 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,290,804 (GRCm39)	E634G	probably benign	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cpt1b	G	T	15: 89,308,247 (GRCm39)		probably null	Het
Ctf2	T	G	7: 127,318,556 (GRCm39)	T148P	possibly damaging	Het
Ddx23	G	A	15: 98,545,505 (GRCm39)	T601I	probably damaging	Het
Dlx6	G	T	6: 6,865,305 (GRCm39)		probably benign	Het
Dmrtb1	A	T	4: 107,534,265 (GRCm39)	N183K	possibly damaging	Het
Dnah11	A	G	12: 117,975,990 (GRCm39)		probably null	Het
Dnah5	C	T	15: 28,367,909 (GRCm39)	P2765S	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Fpr-rs6	T	A	17: 20,403,359 (GRCm39)	M1L	probably damaging	Het
Gm4841	T	C	18: 60,402,998 (GRCm39)	N365S	probably benign	Het
Gsdmc2	C	T	15: 63,699,872 (GRCm39)		probably null	Het
Irx5	G	A	8: 93,084,890 (GRCm39)	V27I	probably damaging	Het
Kmt2e	T	A	5: 23,697,405 (GRCm39)	V101D	possibly damaging	Het
Maip1	A	C	1: 57,452,404 (GRCm39)	K219Q	possibly damaging	Het
Mpp7	G	T	18: 7,353,228 (GRCm39)	R493S	probably benign	Het
Ms4a14	T	C	19: 11,281,335 (GRCm39)	T408A	probably benign	Het
Mthfr	A	G	4: 148,127,998 (GRCm39)	N117S	possibly damaging	Het
Mtres1	T	A	10: 43,409,006 (GRCm39)	S46C	probably damaging	Het
Myo5c	A	G	9: 75,176,893 (GRCm39)	I613V	probably benign	Het
Neurl1b	A	G	17: 26,650,860 (GRCm39)	Q44R	probably benign	Het
Nup54	T	A	5: 92,573,641 (GRCm39)	N187I	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5ak22	C	A	2: 85,230,370 (GRCm39)	C169F	probably damaging	Het
Pate2	C	A	9: 35,596,969 (GRCm39)		probably benign	Het
Pccb	T	C	9: 100,867,252 (GRCm39)	S445G	probably damaging	Het
Pex3	G	A	10: 13,411,315 (GRCm39)	Q188*	probably null	Het
Pikfyve	T	A	1: 65,231,351 (GRCm39)	W74R	probably damaging	Het
Plcl2	T	C	17: 50,914,874 (GRCm39)	S628P	probably damaging	Het
Pnldc1	T	C	17: 13,111,669 (GRCm39)	H346R	probably benign	Het
Pom121l2	T	A	13: 22,168,572 (GRCm39)	C948S	probably benign	Het
Pspc1	A	T	14: 56,999,404 (GRCm39)	M284K	possibly damaging	Het
Ralgapa2	A	G	2: 146,277,919 (GRCm39)	L414S	probably damaging	Het
Rgs13	T	A	1: 144,016,583 (GRCm39)	K53N	probably damaging	Het
Rorc	T	C	3: 94,296,291 (GRCm39)	S163P	probably benign	Het
Rpl3l	A	C	17: 24,952,984 (GRCm39)	T315P	possibly damaging	Het
Rsph3b	A	G	17: 7,172,438 (GRCm39)	V487A	probably benign	Het
Rusc2	A	G	4: 43,416,080 (GRCm39)	E462G	probably damaging	Het
Sez6l	T	C	5: 112,576,344 (GRCm39)	T838A	probably damaging	Het
Slc22a14	A	G	9: 119,008,561 (GRCm39)	Y236H	probably damaging	Het
Sspo	G	A	6: 48,442,457 (GRCm39)	R1984H	probably damaging	Het
Steap3	G	T	1: 120,169,186 (GRCm39)	D370E	probably benign	Het
Telo2	T	C	17: 25,320,647 (GRCm39)	E754G	probably damaging	Het
Tjp1	A	G	7: 64,972,353 (GRCm39)	F604L	probably damaging	Het
Trpm7	A	T	2: 126,639,131 (GRCm39)	D1734E	probably benign	Het
Tsfm	A	C	10: 126,864,242 (GRCm39)	Y158D	probably damaging	Het
Ubtf	T	C	11: 102,197,591 (GRCm39)		probably benign	Het
Upk3a	G	T	15: 84,904,752 (GRCm39)	V167F	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,939 (GRCm39)	S327L	probably benign	Het
Vps13c	T	A	9: 67,858,965 (GRCm39)	I2805N	probably damaging	Het
Zfp592	A	G	7: 80,673,534 (GRCm39)	D166G	possibly damaging	Het

Other mutations in Sumf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Sumf1	APN	6	108,152,977 (GRCm39)	missense	probably damaging	1.00
IGL01624:Sumf1	APN	6	108,130,162 (GRCm39)	missense	probably damaging	1.00
IGL02146:Sumf1	APN	6	108,150,392 (GRCm39)	critical splice acceptor site	probably null
R0594:Sumf1	UTSW	6	108,150,375 (GRCm39)	missense	probably benign	0.31
R0633:Sumf1	UTSW	6	108,121,632 (GRCm39)	missense	probably damaging	1.00
R1479:Sumf1	UTSW	6	108,153,019 (GRCm39)	missense	probably damaging	1.00
R3036:Sumf1	UTSW	6	108,130,152 (GRCm39)	missense	possibly damaging	0.92
R3054:Sumf1	UTSW	6	108,130,165 (GRCm39)	missense	probably benign	0.14
R4246:Sumf1	UTSW	6	108,131,974 (GRCm39)	missense	probably damaging	1.00
R4247:Sumf1	UTSW	6	108,131,974 (GRCm39)	missense	probably damaging	1.00
R4249:Sumf1	UTSW	6	108,131,974 (GRCm39)	missense	probably damaging	1.00
R4853:Sumf1	UTSW	6	108,162,456 (GRCm39)	missense	probably benign	0.00
R5146:Sumf1	UTSW	6	108,162,271 (GRCm39)	missense	probably benign	0.12
R5764:Sumf1	UTSW	6	108,095,424 (GRCm39)	intron	probably benign
R7981:Sumf1	UTSW	6	108,129,186 (GRCm39)	critical splice donor site	probably null
R9410:Sumf1	UTSW	6	108,150,363 (GRCm39)	missense	probably damaging	1.00
R9434:Sumf1	UTSW	6	108,130,096 (GRCm39)	missense	possibly damaging	0.72
R9698:Sumf1	UTSW	6	108,131,923 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGCTTTCAAAGTAAAACATGGCG -3'
(R):5'- TAACGTAAGCCCTAAGCCAAGG -3'

Sequencing Primer
(F):5'- TGGCGATGATCCCCAAAG -3'
(R):5'- CAAGGGTTCCAGGATCTCTTACG -3'

Posted On

2015-09-24