Mutagenetix > Incidental Mutation

Incidental Mutation 'R7060:Sumf2'

568466

Institutional Source

Beutler Lab

Gene Symbol

Sumf2

Ensembl Gene

ENSMUSG00000025538

Gene Name

sulfatase modifying factor 2

Synonyms

2610040F05Rik

MMRRC Submission

045157-MU

Accession Numbers

Essential gene?

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

Stock #

R7060 (G1)

Quality Score

57.0073

Status

Validated

Chromosome

Chromosomal Location

129875807-129892275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129883341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 139 (K139E)

Ref Sequence

ENSEMBL: ENSMUSP00000144155 (fasta)

Gene Model

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

AlphaFold

Q8BPG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137357
AA Change: K139E

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538
AA Change: K139E

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 benign
Transcript: ENSMUST00000171300

SMART Domains

Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538

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 benign
Transcript: ENSMUST00000201874

SMART Domains

Protein: ENSMUSP00000144230
Gene: ENSMUSG00000025538

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,425 (GRCm39)	T535S	probably benign	Het
Adamts19	A	T	18: 58,970,712 (GRCm39)	R99*	probably null	Het
Alg6	C	T	4: 99,650,198 (GRCm39)	L473F	possibly damaging	Het
Ankar	A	T	1: 72,695,272 (GRCm39)	N893K	probably benign	Het
Ankrd54	G	A	15: 78,939,739 (GRCm39)	A183V	possibly damaging	Het
Anpep	G	T	7: 79,491,542 (GRCm39)	T153K	probably benign	Het
Arap1	A	G	7: 101,058,564 (GRCm39)		probably null	Het
Aspg	A	T	12: 112,089,387 (GRCm39)	T392S	probably benign	Het
B230307C23Rik	A	C	16: 97,811,331 (GRCm39)	R68S	probably benign	Het
Bdp1	G	C	13: 100,196,002 (GRCm39)	N1253K	probably damaging	Het
Ccrl2	G	A	9: 110,884,682 (GRCm39)	S272F	probably damaging	Het
Cdon	T	C	9: 35,398,205 (GRCm39)	L974P	probably damaging	Het
Celsr1	C	A	15: 85,916,856 (GRCm39)	E372D	probably benign	Het
Cers1	A	T	8: 70,768,555 (GRCm39)	M16L	possibly damaging	Het
Col2a1	G	T	15: 97,874,022 (GRCm39)	Q1387K	unknown	Het
Ddx39b	G	A	17: 35,471,726 (GRCm39)	V291M	probably damaging	Het
Dppa2	T	A	16: 48,136,076 (GRCm39)	S143T	probably benign	Het
Dpy19l1	A	T	9: 24,334,419 (GRCm39)	M583K	possibly damaging	Het
Eno3	A	T	11: 70,552,245 (GRCm39)	D299V	possibly damaging	Het
Epha8	C	T	4: 136,658,469 (GRCm39)	V969M	probably damaging	Het
Fcgbp	A	T	7: 27,791,358 (GRCm39)	H873L	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fntb	A	C	12: 76,934,649 (GRCm39)	N173T	possibly damaging	Het
Gins2	T	A	8: 121,308,880 (GRCm39)	M125L	probably benign	Het
Gys1	G	A	7: 45,089,437 (GRCm39)	A199T	probably damaging	Het
Herpud1	C	A	8: 95,117,391 (GRCm39)	H116N	probably benign	Het
Hoga1	C	A	19: 42,048,685 (GRCm39)	Y134*	probably null	Het
Il10ra	A	G	9: 45,167,522 (GRCm39)	I343T	probably benign	Het
Inava	T	C	1: 136,147,935 (GRCm39)	K339R	possibly damaging	Het
Inpp5j	C	T	11: 3,450,133 (GRCm39)		probably null	Het
Itpkb	T	C	1: 180,160,695 (GRCm39)	S274P	probably damaging	Het
Kalrn	C	T	16: 34,177,418 (GRCm39)	C249Y	probably damaging	Het
Klhl35	G	C	7: 99,117,665 (GRCm39)	A70P	possibly damaging	Het
Lhx1	A	G	11: 84,411,108 (GRCm39)		probably null	Het
Lmbrd1	T	C	1: 24,732,047 (GRCm39)	V88A	probably benign	Het
Macc1	T	G	12: 119,411,190 (GRCm39)	L653V	probably damaging	Het
Madd	T	C	2: 91,007,452 (GRCm39)	D220G	probably damaging	Het
Mllt10	T	A	2: 18,164,371 (GRCm39)	H300Q	possibly damaging	Het
Mlxipl	G	A	5: 135,161,169 (GRCm39)	A363T	possibly damaging	Het
Mus81	G	T	19: 5,537,821 (GRCm39)	D78E	probably benign	Het
Mxd1	A	T	6: 86,630,141 (GRCm39)	L26M	probably damaging	Het
Nhsl1	C	T	10: 18,402,251 (GRCm39)	T1159M	probably damaging	Het
Nos1ap	A	G	1: 170,165,694 (GRCm39)	S190P	possibly damaging	Het
Nwd1	A	C	8: 73,393,322 (GRCm39)	D195A	probably damaging	Het
Or12d13	G	T	17: 37,647,352 (GRCm39)	T257N	probably benign	Het
Or6k4	A	T	1: 173,964,376 (GRCm39)	D22V	probably benign	Het
Or8c14-ps1	G	A	9: 38,101,392 (GRCm39)	V124I	probably damaging	Het
Or8k24	T	A	2: 86,216,569 (GRCm39)	R64S	possibly damaging	Het
Otof	T	C	5: 30,545,700 (GRCm39)	D500G	possibly damaging	Het
Pcgf5	T	A	19: 36,420,339 (GRCm39)	Y190*	probably null	Het
Pdcd11	C	T	19: 47,099,418 (GRCm39)	T839I	probably benign	Het
Ppard	G	C	17: 28,517,886 (GRCm39)	S318T	probably benign	Het
Ppfia2	A	G	10: 106,597,970 (GRCm39)	K178E	probably damaging	Het
Ppm1n	G	T	7: 19,013,187 (GRCm39)	R255S	probably damaging	Het
Ppp1r21	A	G	17: 88,887,972 (GRCm39)	Y693C	probably damaging	Het
Ppp2r5d	A	T	17: 46,998,279 (GRCm39)	V169E	possibly damaging	Het
Prc1	A	T	7: 79,954,121 (GRCm39)	T53S	probably benign	Het
Pwp2	A	C	10: 78,009,084 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Ring1	A	G	17: 34,242,364 (GRCm39)	C48R	probably damaging	Het
Rpap1	T	C	2: 119,604,043 (GRCm39)	D496G	probably damaging	Het
Rspo4	C	A	2: 151,714,998 (GRCm39)	Q212K	unknown	Het
Samd9l	T	A	6: 3,372,716 (GRCm39)	D1515V	probably damaging	Het
Serinc3	T	C	2: 163,478,879 (GRCm39)	T83A	probably benign	Het
Setd5	A	C	6: 113,094,343 (GRCm39)	D420A	probably damaging	Het
Sidt2	T	C	9: 45,864,544 (GRCm39)	T62A	possibly damaging	Het
Smarcal1	T	C	1: 72,652,101 (GRCm39)	V621A	probably damaging	Het
Srcin1	A	G	11: 97,464,711 (GRCm39)	L12P	probably damaging	Het
Stx18	G	A	5: 38,278,599 (GRCm39)	D165N	possibly damaging	Het
Tdo2	A	T	3: 81,876,866 (GRCm39)	I102N	probably damaging	Het
Tdp1	T	A	12: 99,877,947 (GRCm39)	S410T	probably benign	Het
Tmem94	A	T	11: 115,683,764 (GRCm39)	I726F	probably damaging	Het
Ttc21a	A	G	9: 119,795,742 (GRCm39)	E1192G	probably damaging	Het
Ttc8	T	C	12: 98,909,726 (GRCm39)	I52T	probably benign	Het
Vmn2r99	A	T	17: 19,614,826 (GRCm39)	R849*	probably null	Het
Wwc1	T	C	11: 35,806,003 (GRCm39)	K77E	possibly damaging	Het
Xirp2	A	T	2: 67,345,952 (GRCm39)	E2731V	probably damaging	Het
Zfp1006	A	C	8: 129,945,613 (GRCm39)	I404R	probably benign	Het
Zfp423	G	A	8: 88,509,507 (GRCm39)	T258I	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
R6877:Sumf2	UTSW	5	129,878,867 (GRCm39)	missense	probably damaging	1.00
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'- AGGACATTTTAGGAGTAACCCC -3'
(R):5'- GAAGCTCCAGTTTCTCTCGGATG -3'

Sequencing Primer
(F):5'- GGACATTTTAGGAGTAACCCCGTTTC -3'
(R):5'- AAAAACCTGGCTTGGCT -3'

Posted On

2019-07-31