Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Sumf1'

729431

Institutional Source

Beutler Lab

Gene Symbol

Sumf1

Ensembl Gene

ENSMUSG00000030101

Gene Name

sulfatase modifying factor 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108083989-108162543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108131923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 198 (H198R)

Ref Sequence

ENSEMBL: ENSMUSP00000032191 (fasta)

Gene Model

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

AlphaFold

Q8R0F3

Predicted Effect

probably benign
Transcript: ENSMUST00000032191
AA Change: H198R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032191
Gene: ENSMUSG00000030101
AA Change: H198R

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 benign
Transcript: ENSMUST00000167338
AA Change: H173R

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127537
Gene: ENSMUSG00000030101
AA Change: H173R

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 benign
Transcript: ENSMUST00000172188

SMART Domains

Protein: ENSMUSP00000132321
Gene: ENSMUSG00000030101

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,571,757 (GRCm39)	M1124V	probably benign	Het
Adamts9	A	G	6: 92,784,121 (GRCm39)	C1578R	probably damaging	Het
Adprs	T	C	4: 126,210,514 (GRCm39)	D322G	probably damaging	Het
Anks3	T	C	16: 4,766,113 (GRCm39)	E327G	probably benign	Het
Aspm	T	G	1: 139,389,646 (GRCm39)	N689K	probably benign	Het
Bsn	T	A	9: 107,993,170 (GRCm39)	I861F	probably damaging	Het
Camk2d	C	T	3: 126,633,833 (GRCm39)	H452Y	possibly damaging	Het
Cerk	T	C	15: 86,026,995 (GRCm39)	K477E	probably benign	Het
Cntn6	T	A	6: 104,810,044 (GRCm39)	Y575*	probably null	Het
Copg2	T	C	6: 30,838,373 (GRCm39)	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 103,985,396 (GRCm39)	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,646,508 (GRCm39)	I186T	possibly damaging	Het
Erich2	A	G	2: 70,371,055 (GRCm39)	D431G	unknown	Het
Fmn2	T	A	1: 174,364,739 (GRCm39)	C559S	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,236,024 (GRCm39)	T174A	probably benign	Het
Hrh3	A	G	2: 179,743,206 (GRCm39)	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,233,094 (GRCm39)	S1111P	unknown	Het
Il12rb1	G	T	8: 71,263,848 (GRCm39)	Q136H	possibly damaging	Het
Kcna3	T	C	3: 106,944,405 (GRCm39)	S223P	probably benign	Het
Map10	T	A	8: 126,398,723 (GRCm39)	N705K	probably benign	Het
Marf1	C	A	16: 13,967,077 (GRCm39)	V345L	probably benign	Het
Mcub	C	T	3: 129,710,668 (GRCm39)	D255N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mroh3	T	C	1: 136,114,452 (GRCm39)	T625A	probably damaging	Het
Myo18a	A	G	11: 77,720,681 (GRCm39)	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,643,688 (GRCm39)	Y378C	probably damaging	Het
Or1e30	T	C	11: 73,678,442 (GRCm39)	L226P	probably damaging	Het
Or2m13	A	T	16: 19,226,342 (GRCm39)	C141*	probably null	Het
Or55b4	G	A	7: 102,133,377 (GRCm39)	Q317*	probably null	Het
Pcm1	T	C	8: 41,723,541 (GRCm39)	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,218,959 (GRCm39)	D224V	probably benign	Het
Plxnb1	A	G	9: 108,925,251 (GRCm39)		probably benign	Het
Pot1a	T	C	6: 25,744,615 (GRCm39)	I630V	probably damaging	Het
Ppil4	A	G	10: 7,683,033 (GRCm39)		probably null	Het
Ptpru	A	T	4: 131,547,531 (GRCm39)	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,583,592 (GRCm39)	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,618,662 (GRCm39)	L207P	probably damaging	Het
Reg3g	A	C	6: 78,444,805 (GRCm39)	S58A	probably benign	Het
Ric8b	T	C	10: 84,783,361 (GRCm39)	L73P	probably damaging	Het
Rmdn2	A	G	17: 79,957,729 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc46a2	A	G	4: 59,912,582 (GRCm39)	S397P	probably damaging	Het
Smpd3	A	T	8: 106,992,296 (GRCm39)	S86T	possibly damaging	Het
Tagap1	C	G	17: 7,228,477 (GRCm39)	D18H	probably damaging	Het
Tcf23	C	T	5: 31,126,225 (GRCm39)	R35C	probably damaging	Het
Tdpoz8	T	A	3: 92,981,727 (GRCm39)	D174E	possibly damaging	Het
Tenm3	G	A	8: 48,689,246 (GRCm39)	L2114F	probably damaging	Het
Ttn	A	T	2: 76,773,718 (GRCm39)	I2301K	unknown	Het
Ubr4	A	G	4: 139,167,975 (GRCm39)	E1496G		Het
Usp48	T	C	4: 137,361,202 (GRCm39)	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,518,440 (GRCm39)	I474V	possibly damaging	Het
Zfpm1	T	A	8: 123,063,868 (GRCm39)	S976T	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGTCCGTTTAGTCAAGGCC -3'
(R):5'- AAAAGGCCTCATGACCCTATGTG -3'

Sequencing Primer
(F):5'- TGAGCAGACCCTGTGACTAG -3'
(R):5'- TAGTAGCTGATGGAAGCC -3'

Posted On

2022-10-06