Mutagenetix > Incidental Mutation

Incidental Mutation 'R6877:Sumf2'

536459

Institutional Source

Beutler Lab

Gene Symbol

Sumf2

Ensembl Gene

ENSMUSG00000025538

Gene Name

sulfatase modifying factor 2

Synonyms

2610040F05Rik

MMRRC Submission

044973-MU

Accession Numbers

Essential gene?

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

Stock #

R6877 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129875807-129892275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129878867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 68 (D68N)

Ref Sequence

ENSEMBL: ENSMUSP00000144230 (fasta)

Gene Model

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

AlphaFold

Q8BPG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000137357
AA Change: D64N

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

SMART Domains

Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538
AA Change: D64N

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: D73N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538
AA Change: D73N

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: D68N

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

SMART Domains

Protein: ENSMUSP00000144230
Gene: ENSMUSG00000025538
AA Change: D68N

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: 99.5%
20x: 98.2%

Validation Efficiency

94% (47/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	C	8: 44,078,274 (GRCm39)	H650R	probably benign	Het
Adgrl2	T	C	3: 148,522,922 (GRCm39)	Y1367C	probably damaging	Het
Aqr	A	T	2: 113,947,052 (GRCm39)	C1043*	probably null	Het
Arhgef17	A	G	7: 100,530,548 (GRCm39)	S1413P	probably damaging	Het
AU041133	A	G	10: 81,987,405 (GRCm39)	T352A	probably benign	Het
Bcl7a	A	G	5: 123,489,958 (GRCm39)	T41A	probably damaging	Het
Btbd10	A	T	7: 112,921,967 (GRCm39)	F298Y	probably damaging	Het
Ccdc57	G	A	11: 120,764,528 (GRCm39)	T749I	probably benign	Het
Clcnkb	T	C	4: 141,132,143 (GRCm39)	N646S	probably benign	Het
Dcst1	T	C	3: 89,257,667 (GRCm39)	D701G	probably benign	Het
Dnah14	C	A	1: 181,455,997 (GRCm39)	T1001K	possibly damaging	Het
Dnah8	G	T	17: 30,965,933 (GRCm39)	G2422W	probably damaging	Het
Dyrk2	A	T	10: 118,696,328 (GRCm39)	I310N	probably damaging	Het
Eif5b	A	T	1: 38,089,320 (GRCm39)	N1099Y	probably damaging	Het
Elp2	T	A	18: 24,768,033 (GRCm39)	N762K	probably benign	Het
Esco2	A	G	14: 66,068,494 (GRCm39)	V272A	probably benign	Het
Fat3	A	C	9: 15,910,564 (GRCm39)	S1813A	probably benign	Het
Igf2r	A	G	17: 12,916,228 (GRCm39)	V1710A	probably damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Kcnk5	T	C	14: 20,194,784 (GRCm39)	T185A	possibly damaging	Het
Litafd	G	A	16: 8,501,173 (GRCm39)	V10I	unknown	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nol4	A	T	18: 22,852,186 (GRCm39)	C460S	probably benign	Het
Ntaq1	C	A	15: 58,017,074 (GRCm39)	P163Q	probably damaging	Het
Or10g3b	T	A	14: 52,587,270 (GRCm39)	I78F	possibly damaging	Het
Or4f14b	T	C	2: 111,775,184 (GRCm39)	I206V	probably benign	Het
Ovch2	G	A	7: 107,389,315 (GRCm39)	A371V	probably benign	Het
Pcdhb4	A	G	18: 37,442,625 (GRCm39)	D645G	probably damaging	Het
Pcnt	A	C	10: 76,269,851 (GRCm39)	S207A	possibly damaging	Het
Pex1	A	T	5: 3,685,505 (GRCm39)	Q1211L	probably benign	Het
Pnn	A	G	12: 59,115,553 (GRCm39)	E99G	probably damaging	Het
Prkrip1	A	T	5: 136,218,478 (GRCm39)		probably null	Het
Rnf133	A	G	6: 23,649,486 (GRCm39)	F191L	probably benign	Het
Scn10a	T	C	9: 119,438,848 (GRCm39)	T1674A	probably damaging	Het
Sdccag8	G	A	1: 176,839,501 (GRCm39)	V682M	probably damaging	Het
Spi1	T	C	2: 90,944,741 (GRCm39)	L162P	probably damaging	Het
Sptan1	C	G	2: 29,920,985 (GRCm39)	N2432K	probably damaging	Het
Stx2	A	G	5: 129,064,884 (GRCm39)	V271A	probably benign	Het
Tsc22d4	A	G	5: 137,760,855 (GRCm39)	E92G	possibly damaging	Het
Ube3c	G	T	5: 29,792,316 (GRCm39)	R37L	probably benign	Het
Ubr5	A	G	15: 38,002,814 (GRCm39)	S1446P	probably damaging	Het
Veph1	T	C	3: 66,162,505 (GRCm39)	N51S	probably damaging	Het
Vmn1r82	T	C	7: 12,039,290 (GRCm39)	F70L	possibly damaging	Het
Vmn2r92	A	G	17: 18,389,084 (GRCm39)	N466S	probably damaging	Het
Vwf	T	A	6: 125,634,164 (GRCm39)	V2153D	possibly damaging	Het
Yeats2	A	G	16: 19,998,344 (GRCm39)	T300A	probably benign	Het
Zc3h12d	G	T	10: 7,715,735 (GRCm39)	R46L	probably damaging	Het
Zfp516	T	C	18: 82,973,916 (GRCm39)	I38T	probably damaging	Het
Zic5	G	A	14: 122,697,100 (GRCm39)	T505I	unknown	Het
Zpld1	C	T	16: 55,072,034 (GRCm39)	G75E	probably 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
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
R7949:Sumf2	UTSW	5	129,881,759 (GRCm39)	missense	probably damaging	1.00
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'- CAGTTTCTAAATTGACCTAGCTGAG -3'
(R):5'- AAAATCGAGAGTCTATCTTTCGTGA -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- CTATCTTTCGTGATTTGTAAGCTGC -3'

Posted On

2018-10-18