Mutagenetix > Incidental Mutation

Incidental Mutation 'R7949:Sumf2'

649454

Institutional Source

Beutler Lab

Gene Symbol

Sumf2

Ensembl Gene

ENSMUSG00000025538

Gene Name

sulfatase modifying factor 2

Synonyms

2610040F05Rik

MMRRC Submission

045994-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R7949 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129875807-129892275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129881759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 98 (F98S)

Ref Sequence

ENSEMBL: ENSMUSP00000126036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000137357] [ENSMUST00000171300] [ENSMUST00000201874]

AlphaFold

Q8BPG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000137357
AA Change: F89S

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

SMART Domains

Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538
AA Change: F89S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:FGE-sulfatase	25	136	6.2e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171300
AA Change: F98S

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

SMART Domains

Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538
AA Change: F98S

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:FGE-sulfatase	34	299	3.9e-88	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201874
AA Change: F93S

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

SMART Domains

Protein: ENSMUSP00000144230
Gene: ENSMUSG00000025538
AA Change: F93S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:FGE-sulfatase	29	135	3.5e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,303,353 (GRCm39)	T6111M	probably damaging	Het
Adprhl1	T	G	8: 13,274,225 (GRCm39)	R844S	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,807 (GRCm39)	E115G	possibly damaging	Het
Anp32a	A	G	9: 62,280,948 (GRCm39)	E170G	unknown	Het
Arhgap27	A	G	11: 103,228,595 (GRCm39)	S349P	probably damaging	Het
Asns	T	A	6: 7,685,328 (GRCm39)	I110F	probably damaging	Het
Atad3a	T	C	4: 155,833,152 (GRCm39)	H437R	possibly damaging	Het
Atl2	C	A	17: 80,167,289 (GRCm39)	R244L	probably damaging	Het
Bcl2l14	A	T	6: 134,407,083 (GRCm39)	D222V	probably damaging	Het
Ccdc102a	G	T	8: 95,631,913 (GRCm39)	Q498K	probably damaging	Het
Cdc14b	T	C	13: 64,338,212 (GRCm39)		probably null	Het
Cdcp3	G	A	7: 130,895,324 (GRCm39)		probably null	Het
Cep162	T	A	9: 87,088,901 (GRCm39)	M994L	probably benign	Het
Ddx18	A	G	1: 121,483,047 (GRCm39)	Y580H	probably damaging	Het
Entpd6	C	A	2: 150,612,197 (GRCm39)		probably null	Het
Fer	T	A	17: 64,440,503 (GRCm39)	S707T	probably damaging	Het
Gabra6	A	G	11: 42,207,826 (GRCm39)	V215A	probably benign	Het
Gm20671	A	G	5: 32,977,288 (GRCm39)	V142A	probably benign	Het
Gtf3c1	G	T	7: 125,250,253 (GRCm39)	N1439K	probably benign	Het
Igbp1b	T	C	6: 138,635,414 (GRCm39)	K10R	probably benign	Het
Ighv5-8	TATATATATATATATATATATATA	TATATATATATATATATATATATATA	12: 113,618,563 (GRCm39)		probably null	Het
Igkv12-44	A	T	6: 69,791,874 (GRCm39)	S30T	probably benign	Het
Immt	A	T	6: 71,851,327 (GRCm39)	R563*	probably null	Het
Jakmip1	A	T	5: 37,339,492 (GRCm39)	Q1231L	probably damaging	Het
Jsrp1	T	C	10: 80,647,906 (GRCm39)	T51A	probably benign	Het
Krtap31-1	A	G	11: 99,799,144 (GRCm39)	T116A	possibly damaging	Het
Lrp8	T	A	4: 107,660,524 (GRCm39)	D61E	probably damaging	Het
Mark2	T	C	19: 7,262,081 (GRCm39)	D311G	probably benign	Het
Men1	C	T	19: 6,388,323 (GRCm39)	S314L	possibly damaging	Het
Nxpe2	T	C	9: 48,234,397 (GRCm39)	N290S	possibly damaging	Het
Or2f2	T	C	6: 42,767,588 (GRCm39)	V205A	possibly damaging	Het
Or5b105	T	A	19: 13,080,610 (GRCm39)		probably null	Het
Pcolce2	A	T	9: 95,576,688 (GRCm39)	T320S	probably benign	Het
Phc2	C	T	4: 128,603,401 (GRCm39)	T177M	probably damaging	Het
Phf21b	G	T	15: 84,676,036 (GRCm39)	P337H	probably damaging	Het
Pinlyp	G	T	7: 24,245,375 (GRCm39)	T15K	probably damaging	Het
Ppox	A	T	1: 171,105,521 (GRCm39)	S307R	probably benign	Het
Ptk7	T	A	17: 46,897,387 (GRCm39)	E315V	possibly damaging	Het
Pxk	T	C	14: 8,144,233 (GRCm38)	I327T	probably damaging	Het
Rabgap1	A	T	2: 37,453,491 (GRCm39)	K973I	probably benign	Het
Rbbp8	A	T	18: 11,851,892 (GRCm39)	I238L	probably benign	Het
Runx2	T	A	17: 45,046,442 (GRCm39)	D109V	possibly damaging	Het
Serpinb6a	G	A	13: 34,107,003 (GRCm39)	S183L	probably benign	Het
Slco1a8	C	A	6: 141,939,991 (GRCm39)	G171C	probably damaging	Het
Sptlc3	T	C	2: 139,467,795 (GRCm39)	I451T	possibly damaging	Het
Sugp1	A	T	8: 70,509,153 (GRCm39)	Y142F	possibly damaging	Het
Tmem120a	C	T	5: 135,771,220 (GRCm39)	E39K	possibly damaging	Het
Tnxb	C	T	17: 34,936,103 (GRCm39)	P2680L	probably damaging	Het
Zfp78	C	G	7: 6,382,365 (GRCm39)	R472G	possibly damaging	Het

Other mutations in Sumf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Sumf2	APN	5	129,882,918 (GRCm39)	intron	probably benign
IGL01285:Sumf2	APN	5	129,878,811 (GRCm39)	missense	probably damaging	1.00
IGL02247:Sumf2	APN	5	129,888,986 (GRCm39)	missense	probably damaging	0.98
IGL02348:Sumf2	APN	5	129,888,711 (GRCm39)	missense	probably damaging	1.00
IGL03074:Sumf2	APN	5	129,888,674 (GRCm39)	splice site	probably benign
R0105:Sumf2	UTSW	5	129,878,735 (GRCm39)	splice site	probably benign
R0105:Sumf2	UTSW	5	129,878,735 (GRCm39)	splice site	probably benign
R0751:Sumf2	UTSW	5	129,878,846 (GRCm39)	missense	probably benign	0.45
R1219:Sumf2	UTSW	5	129,883,613 (GRCm39)	missense	probably benign
R1565:Sumf2	UTSW	5	129,888,755 (GRCm39)	missense	probably damaging	1.00
R1678:Sumf2	UTSW	5	129,883,557 (GRCm39)	missense	possibly damaging	0.69
R1778:Sumf2	UTSW	5	129,873,909 (GRCm39)	unclassified	probably benign
R2987:Sumf2	UTSW	5	129,875,925 (GRCm39)	missense	possibly damaging	0.96
R3930:Sumf2	UTSW	5	129,878,820 (GRCm39)	missense	probably benign	0.15
R6877:Sumf2	UTSW	5	129,878,867 (GRCm39)	missense	probably damaging	1.00
R7060:Sumf2	UTSW	5	129,883,341 (GRCm39)	missense	possibly damaging	0.66
R7326:Sumf2	UTSW	5	129,891,551 (GRCm39)	missense	probably benign	0.00
R8291:Sumf2	UTSW	5	129,887,138 (GRCm39)	critical splice donor site	probably null
R8356:Sumf2	UTSW	5	129,889,003 (GRCm39)	missense	possibly damaging	0.84
R8456:Sumf2	UTSW	5	129,889,003 (GRCm39)	missense	possibly damaging	0.84
R9185:Sumf2	UTSW	5	129,875,909 (GRCm39)	missense	possibly damaging	0.53
R9649:Sumf2	UTSW	5	129,891,482 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- AATCGAAAGCTTGGCAAGGC -3'
(R):5'- CTTGTCAGCTCCTCCAAGAC -3'

Sequencing Primer
(F):5'- CTCCAGAAAAGGGTGTCAGATCTC -3'
(R):5'- GCTCCTCCAAGACGCCCC -3'

Posted On

2020-09-15