Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:Sumf1'

58065

Institutional Source

Beutler Lab

Gene Symbol

Sumf1

Ensembl Gene

ENSMUSG00000030101

Gene Name

sulfatase modifying factor 1

Synonyms

MMRRC Submission

038822-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R0633 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108083989-108162543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108121632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 158 (Y158D)

Ref Sequence

ENSEMBL: ENSMUSP00000132321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032191] [ENSMUST00000167338] [ENSMUST00000169446] [ENSMUST00000172188]

AlphaFold

Q8R0F3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000025040

Predicted Effect

probably damaging
Transcript: ENSMUST00000032191
AA Change: Y290D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032191
Gene: ENSMUSG00000030101
AA Change: Y290D

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

probably damaging
Transcript: ENSMUST00000167338
AA Change: Y265D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127537
Gene: ENSMUSG00000030101
AA Change: Y265D

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 damaging
Transcript: ENSMUST00000169446
AA Change: Y9D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130061
Gene: ENSMUSG00000030101
AA Change: Y9D

Domain	Start	End	E-Value	Type
Pfam:FGE-sulfatase	1	83	6.6e-18	PFAM
low complexity region	139	151	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171697

Predicted Effect

probably damaging
Transcript: ENSMUST00000172188
AA Change: Y158D

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

SMART Domains

Protein: ENSMUSP00000132321
Gene: ENSMUSG00000030101
AA Change: Y158D

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	A	T	9: 30,854,807 (GRCm39)	R18S	probably damaging	Het
Adgb	G	A	10: 10,267,473 (GRCm39)	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,049,970 (GRCm39)	V416A	probably damaging	Het
Alox5	C	T	6: 116,397,345 (GRCm39)	G280R	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Apbb1	C	T	7: 105,208,170 (GRCm39)	V685I	probably damaging	Het
Apc2	C	A	10: 80,143,289 (GRCm39)	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,860,198 (GRCm39)	W1170*	probably null	Het
Atat1	G	A	17: 36,212,315 (GRCm39)	R305C	probably damaging	Het
Brd8dc	A	G	18: 34,719,319 (GRCm39)	V167A	possibly damaging	Het
Cars2	T	C	8: 11,600,511 (GRCm39)	D56G	probably benign	Het
Ccdc202	T	G	14: 96,119,379 (GRCm39)	N45K	probably damaging	Het
Cdc42bpb	T	C	12: 111,311,989 (GRCm39)	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,979 (GRCm39)	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,381,088 (GRCm39)	L148P	probably damaging	Het
Cntn4	A	G	6: 106,656,209 (GRCm39)		probably null	Het
Cpe	G	A	8: 65,062,237 (GRCm39)	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,509,146 (GRCm39)	D19G	probably benign	Het
Ddx25	C	A	9: 35,457,268 (GRCm39)	R349L	probably damaging	Het
Depdc7	T	C	2: 104,553,226 (GRCm39)	D446G	probably benign	Het
Det1	T	A	7: 78,493,683 (GRCm39)	N107I	probably benign	Het
Dock6	A	T	9: 21,755,713 (GRCm39)	D170E	probably benign	Het
Dvl1	C	T	4: 155,942,752 (GRCm39)	L673F	probably damaging	Het
Gucy1b1	A	T	3: 81,952,767 (GRCm39)	I222K	probably benign	Het
Hfm1	T	C	5: 107,065,467 (GRCm39)	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,719,223 (GRCm39)	E310G	probably damaging	Het
Impg1	T	C	9: 80,301,437 (GRCm39)	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,275,954 (GRCm39)	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,089,479 (GRCm39)	G360D	probably benign	Het
Kif14	C	T	1: 136,455,043 (GRCm39)	R1572C	probably damaging	Het
L3mbtl3	A	T	10: 26,178,583 (GRCm39)	H568Q	unknown	Het
Lgi2	A	G	5: 52,711,802 (GRCm39)	Y173H	probably damaging	Het
Lpar5	A	C	6: 125,058,954 (GRCm39)	Y225S	probably benign	Het
Lpin3	A	G	2: 160,745,894 (GRCm39)	H675R	probably damaging	Het
Lrp2	C	A	2: 69,278,464 (GRCm39)	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,591,891 (GRCm39)	D13E	possibly damaging	Het
Map1a	T	C	2: 121,138,495 (GRCm39)	V2753A	probably damaging	Het
Mitf	C	A	6: 97,980,865 (GRCm39)	N97K	probably damaging	Het
Msh2	A	G	17: 87,980,238 (GRCm39)		probably null	Het
Msr1	T	C	8: 40,073,041 (GRCm39)	E170G	probably damaging	Het
Myrip	C	A	9: 120,217,302 (GRCm39)	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782 (GRCm38)		probably null	Het
Neto1	C	T	18: 86,422,854 (GRCm39)	R104*	probably null	Het
Nom1	A	C	5: 29,656,098 (GRCm39)	K821T	probably damaging	Het
Nrxn1	A	G	17: 91,011,609 (GRCm39)	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,307,897 (GRCm39)	I334F	probably benign	Het
Or1e23	A	G	11: 73,407,753 (GRCm39)	S91P	probably benign	Het
Or2ag1	T	C	7: 106,313,184 (GRCm39)	K235E	probably benign	Het
Or4a74	T	C	2: 89,439,718 (GRCm39)	M243V	probably benign	Het
Or5al7	T	A	2: 85,992,435 (GRCm39)	N286I	probably damaging	Het
Or5b124	T	C	19: 13,610,700 (GRCm39)	V75A	probably damaging	Het
Or8k27	C	T	2: 86,275,473 (GRCm39)	M284I	probably benign	Het
Padi4	A	G	4: 140,484,896 (GRCm39)	S322P	probably damaging	Het
Peli3	A	G	19: 4,991,810 (GRCm39)	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,743,767 (GRCm39)	S163P	probably damaging	Het
Prom2	T	C	2: 127,381,445 (GRCm39)	D227G	probably benign	Het
Ptgfr	C	T	3: 151,507,400 (GRCm39)	R321H	probably benign	Het
Resf1	A	T	6: 149,227,199 (GRCm39)	I82L	probably benign	Het
Rgs3	G	A	4: 62,544,143 (GRCm39)	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,719,853 (GRCm39)	N3T	possibly damaging	Het
Rif1	T	C	2: 52,002,575 (GRCm39)	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690 (GRCm39)	F408L	probably damaging	Het
Rtn3	T	G	19: 7,434,958 (GRCm39)	T326P	probably benign	Het
Slc18b1	A	C	10: 23,681,936 (GRCm39)	M167L	probably benign	Het
Slc22a26	A	G	19: 7,765,575 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,317 (GRCm39)	D130G	probably damaging	Het
Snap47	A	G	11: 59,319,439 (GRCm39)	V233A	probably benign	Het
Tbc1d15	A	T	10: 115,056,215 (GRCm39)	H252Q	probably benign	Het
Thsd7b	T	C	1: 130,116,263 (GRCm39)	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 56,869,777 (GRCm39)	I56V	probably benign	Het
Ttc21b	A	G	2: 66,066,577 (GRCm39)	S359P	probably benign	Het
Ttc27	T	C	17: 75,036,972 (GRCm39)	I215T	probably benign	Het
Ttn	C	T	2: 76,554,539 (GRCm39)	V30759I	possibly damaging	Het
Vdac3	T	C	8: 23,070,404 (GRCm39)	N168S	probably damaging	Het
Wdr7	T	C	18: 63,998,371 (GRCm39)	V1106A	probably benign	Het
Wrap73	T	A	4: 154,226,948 (GRCm39)	F16Y	probably damaging	Het
Zfat	C	A	15: 68,052,652 (GRCm39)	D381Y	probably 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
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
R4574:Sumf1	UTSW	6	108,085,393 (GRCm39)	unclassified	probably benign
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'- AAACCCTTGCTGCTGTCTGCTCAG -3'
(R):5'- GCACGCACGTATTCTTACACGCAC -3'

Sequencing Primer
(F):5'- CTGTCTGCTCAGAGGACAAG -3'
(R):5'- GTCAAGCCTTGGTACTTATAGTTAG -3'

Posted On

2013-07-11