Mutagenetix > Incidental Mutation

Incidental Mutation 'R1479:Sumf1'

164196

Institutional Source

Beutler Lab

Gene Symbol

Sumf1

Ensembl Gene

ENSMUSG00000030101

Gene Name

sulfatase modifying factor 1

Synonyms

MMRRC Submission

039532-MU

Accession Numbers

Essential gene?

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

Stock #

R1479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108083989-108162543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108153019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 123 (Y123C)

Ref Sequence

ENSEMBL: ENSMUSP00000127537 (fasta)

Gene Model

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

AlphaFold

Q8R0F3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032191
AA Change: Y123C

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

SMART Domains

Protein: ENSMUSP00000032191
Gene: ENSMUSG00000030101
AA Change: Y123C

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: Y123C

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

SMART Domains

Protein: ENSMUSP00000127537
Gene: ENSMUSG00000030101
AA Change: Y123C

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: ENSMUST00000172188
AA Change: Y123C

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

SMART Domains

Protein: ENSMUSP00000132321
Gene: ENSMUSG00000030101
AA Change: Y123C

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

0.3934

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (81/84)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	T	A	9: 50,652,601 (GRCm39)	T58S	possibly damaging	Het
Alox12e	A	G	11: 70,211,608 (GRCm39)	V252A	probably benign	Het
Anks6	T	C	4: 47,044,874 (GRCm39)	D344G	probably damaging	Het
Atg14	A	T	14: 47,784,696 (GRCm39)		probably null	Het
Bcr	G	T	10: 74,896,957 (GRCm39)	E34*	probably null	Het
Birc6	C	T	17: 74,941,848 (GRCm39)	T2728M	probably damaging	Het
Bmp2k	T	A	5: 97,201,059 (GRCm39)	N326K	probably benign	Het
Brme1	C	A	8: 84,889,026 (GRCm39)	T123K	possibly damaging	Het
Ccdc188	A	C	16: 18,037,154 (GRCm39)	T242P	possibly damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdin1	T	A	2: 115,469,494 (GRCm39)	N74K	probably benign	Het
Chsy3	A	T	18: 59,541,985 (GRCm39)	E374D	probably benign	Het
Clca4b	A	T	3: 144,621,229 (GRCm39)	V615E	probably damaging	Het
Clcnka	C	A	4: 141,116,758 (GRCm39)	A498S	possibly damaging	Het
Csmd3	A	G	15: 47,721,282 (GRCm39)	C1450R	probably damaging	Het
Cul7	C	A	17: 46,962,673 (GRCm39)	D101E	probably damaging	Het
Cyp27b1	G	A	10: 126,887,580 (GRCm39)		probably null	Het
Cyp2d22	A	G	15: 82,256,137 (GRCm39)	S404P	probably damaging	Het
Dclk3	G	A	9: 111,297,614 (GRCm39)	S386N	probably benign	Het
Dnah10	G	A	5: 124,854,953 (GRCm39)	D1953N	possibly damaging	Het
Dst	T	A	1: 34,303,596 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,711,314 (GRCm39)	N241D	probably damaging	Het
Entpd7	T	C	19: 43,710,279 (GRCm39)	F312S	probably damaging	Het
Esp34	T	A	17: 38,865,219 (GRCm39)		probably benign	Het
Foxd2	T	A	4: 114,765,115 (GRCm39)	T302S	unknown	Het
Fzd6	A	T	15: 38,894,394 (GRCm39)	N187Y	probably damaging	Het
Gbp9	C	T	5: 105,241,930 (GRCm39)		probably benign	Het
Gna14	T	C	19: 16,511,133 (GRCm39)	S61P	possibly damaging	Het
Grap	A	T	11: 61,551,124 (GRCm39)	Y52F	probably benign	Het
H2-T3	T	C	17: 36,500,320 (GRCm39)	Y125C	probably damaging	Het
Hax1	C	A	3: 89,903,164 (GRCm39)	E212D	probably damaging	Het
Hecw1	A	C	13: 14,491,077 (GRCm39)	S638R	probably benign	Het
Hira	A	T	16: 18,715,219 (GRCm39)	K39M	probably damaging	Het
Hoxa2	T	A	6: 52,140,320 (GRCm39)	D222V	probably damaging	Het
Hycc2	T	A	1: 58,591,427 (GRCm39)	R91*	probably null	Het
Jph2	C	T	2: 163,181,191 (GRCm39)	V658M	possibly damaging	Het
Kansl1	A	T	11: 104,233,242 (GRCm39)	S762T	probably damaging	Het
Kat6b	T	A	14: 21,669,024 (GRCm39)	C267S	probably benign	Het
Klk6	A	G	7: 43,481,058 (GRCm39)	N250S	probably benign	Het
Lbp	T	C	2: 158,161,634 (GRCm39)	L232S	probably damaging	Het
Lcn9	A	T	2: 25,713,715 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,025,068 (GRCm39)	H213R	probably benign	Het
Lrrc9	A	T	12: 72,507,599 (GRCm39)	K367*	probably null	Het
Lyst	A	G	13: 13,809,067 (GRCm39)	I246V	probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mst1r	T	C	9: 107,790,544 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,733,020 (GRCm39)	E909G	probably benign	Het
Nipbl	A	T	15: 8,379,773 (GRCm39)	D1006E	probably benign	Het
Or4k5	C	A	14: 50,386,245 (GRCm39)	V29F	probably benign	Het
Or5d37	A	G	2: 87,923,630 (GRCm39)	F217L	probably benign	Het
Or8d1b	A	T	9: 38,887,058 (GRCm39)	I29F	probably benign	Het
Otog	A	G	7: 45,945,402 (GRCm39)	I2220V	possibly damaging	Het
Pcx	T	A	19: 4,652,052 (GRCm39)	I99N	probably damaging	Het
Pi4ka	C	T	16: 17,191,264 (GRCm39)	G211D	probably benign	Het
Pp2d1	T	C	17: 53,814,883 (GRCm39)	S614G	probably benign	Het
Prdx6	G	A	1: 161,071,833 (GRCm39)	A111V	probably damaging	Het
Prorp	T	A	12: 55,426,172 (GRCm39)	D138E	probably damaging	Het
Prss51	G	A	14: 64,333,619 (GRCm39)		probably null	Het
Psmd6	C	T	14: 14,116,819 (GRCm38)		probably benign	Het
Pten	T	A	19: 32,797,250 (GRCm39)	L345Q	probably damaging	Het
Qrich2	T	G	11: 116,332,311 (GRCm39)	H2295P	probably benign	Het
Rgs11	T	C	17: 26,427,257 (GRCm39)		probably null	Het
Rgs6	A	G	12: 83,163,018 (GRCm39)	E408G	probably damaging	Het
Septin4	G	T	11: 87,458,244 (GRCm39)	R206L	probably damaging	Het
Slc38a7	T	C	8: 96,575,122 (GRCm39)	T53A	probably benign	Het
Spata31g1	A	C	4: 42,972,543 (GRCm39)	K625N	possibly damaging	Het
Sptbn1	A	G	11: 30,063,909 (GRCm39)	C1957R	probably damaging	Het
Tnrc6b	T	A	15: 80,771,233 (GRCm39)		probably null	Het
Ttc21a	C	A	9: 119,786,013 (GRCm39)	D670E	probably benign	Het
Ttn	A	G	2: 76,574,855 (GRCm39)	V25346A	probably damaging	Het
Ubr4	A	G	4: 139,153,151 (GRCm39)	T2070A	possibly damaging	Het
Vmn2r57	C	A	7: 41,077,254 (GRCm39)	W304L	possibly damaging	Het
Vps13a	T	C	19: 16,727,478 (GRCm39)		probably benign	Het
Zfp647	A	G	15: 76,795,403 (GRCm39)	V419A	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
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'- TGCCATCTGTGTTCTCAGAAAGCC -3'
(R):5'- TGCTTTTGATGCGTGATGCCCC -3'

Sequencing Primer
(F):5'- TCACAGCTTGGTACATCACGG -3'
(R):5'- CGTGATGCCCCATGTTTG -3'

Posted On

2014-03-28