Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01828:Dse'

154713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dse

Ensembl Gene

ENSMUSG00000039497

Gene Name

dermatan sulfate epimerase

Synonyms

Sart2, B130024B19Rik, DS-epi1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

IGL01828

Quality Score

Status

Chromosome

Chromosomal Location

34027389-34083711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34028772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 773 (T773S)

Ref Sequence

ENSEMBL: ENSMUSP00000040074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048010] [ENSMUST00000217051]

AlphaFold

Q8BLI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000048010
AA Change: T773S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: T773S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF4962	24	353	5.2e-11	PFAM
low complexity region	558	568	N/A	INTRINSIC
low complexity region	797	815	N/A	INTRINSIC
transmembrane domain	901	923	N/A	INTRINSIC
transmembrane domain	935	952	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216774

Predicted Effect

probably benign
Transcript: ENSMUST00000217051

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and length with altered skin morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,178,521 (GRCm39)	I1151V	probably benign	Het
Abcc4	C	T	14: 118,790,691 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,658,615 (GRCm39)		probably benign	Het
Car4	C	A	11: 84,855,571 (GRCm39)	Q198K	probably benign	Het
Ces1a	T	C	8: 93,751,829 (GRCm39)	H435R	probably damaging	Het
Chdh	T	A	14: 29,758,565 (GRCm39)	F503L	probably damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Fbxw11	T	A	11: 32,670,505 (GRCm39)	L123H	probably damaging	Het
Gigyf2	A	G	1: 87,346,820 (GRCm39)	D550G	probably damaging	Het
Gm45844	T	C	7: 7,234,322 (GRCm39)		probably null	Het
Krcc1	T	A	6: 71,261,351 (GRCm39)	Y128N	probably damaging	Het
Myh8	T	C	11: 67,194,652 (GRCm39)	M1621T	possibly damaging	Het
Notch2	T	A	3: 97,979,929 (GRCm39)	C148S	probably damaging	Het
Plcg2	C	A	8: 118,316,972 (GRCm39)	H616Q	probably damaging	Het
Plec	T	C	15: 76,067,955 (GRCm39)	E1218G	probably damaging	Het
Plekhm2	T	C	4: 141,356,896 (GRCm39)	E749G	probably benign	Het
Slco1a6	C	T	6: 142,042,137 (GRCm39)	V480M	probably damaging	Het
Vmn1r88	C	T	7: 12,911,662 (GRCm39)	T6I	probably damaging	Het
Vmn2r14	A	G	5: 109,372,443 (GRCm39)	F16L	possibly damaging	Het
Ywhab	G	A	2: 163,853,694 (GRCm39)	R57H	possibly damaging	Het

Other mutations in Dse

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Dse	APN	10	34,038,801 (GRCm39)	missense	probably damaging	1.00
IGL01835:Dse	APN	10	34,036,213 (GRCm39)	splice site	probably benign
IGL01942:Dse	APN	10	34,031,989 (GRCm39)	missense	probably benign	0.02
IGL02047:Dse	APN	10	34,038,841 (GRCm39)	nonsense	probably null
IGL02208:Dse	APN	10	34,028,433 (GRCm39)	missense	probably benign
IGL02306:Dse	APN	10	34,036,130 (GRCm39)	missense	probably damaging	0.96
IGL02504:Dse	APN	10	34,028,796 (GRCm39)	missense	probably benign
IGL02626:Dse	APN	10	34,029,158 (GRCm39)	missense	probably damaging	0.99
IGL02812:Dse	APN	10	34,059,712 (GRCm39)	missense	probably damaging	1.00
R0018:Dse	UTSW	10	34,029,464 (GRCm39)	missense	probably benign	0.00
R0018:Dse	UTSW	10	34,029,464 (GRCm39)	missense	probably benign	0.00
R0131:Dse	UTSW	10	34,029,660 (GRCm39)	missense	probably damaging	1.00
R1300:Dse	UTSW	10	34,028,411 (GRCm39)	missense	probably benign	0.00
R1502:Dse	UTSW	10	34,029,214 (GRCm39)	missense	probably damaging	1.00
R1619:Dse	UTSW	10	34,029,230 (GRCm39)	missense	probably damaging	1.00
R1736:Dse	UTSW	10	34,029,145 (GRCm39)	missense	probably damaging	1.00
R1857:Dse	UTSW	10	34,029,225 (GRCm39)	missense	probably benign	0.03
R1858:Dse	UTSW	10	34,029,225 (GRCm39)	missense	probably benign	0.03
R1859:Dse	UTSW	10	34,029,225 (GRCm39)	missense	probably benign	0.03
R1868:Dse	UTSW	10	34,029,284 (GRCm39)	missense	possibly damaging	0.86
R1959:Dse	UTSW	10	34,036,202 (GRCm39)	missense	probably damaging	1.00
R2082:Dse	UTSW	10	34,031,936 (GRCm39)	missense	probably damaging	1.00
R2325:Dse	UTSW	10	34,060,043 (GRCm39)	missense	probably benign	0.23
R2883:Dse	UTSW	10	34,028,503 (GRCm39)	missense	probably benign	0.34
R3436:Dse	UTSW	10	34,028,470 (GRCm39)	missense	probably benign
R3818:Dse	UTSW	10	34,029,429 (GRCm39)	missense	probably benign
R4158:Dse	UTSW	10	34,029,330 (GRCm39)	missense	probably damaging	1.00
R4159:Dse	UTSW	10	34,029,330 (GRCm39)	missense	probably damaging	1.00
R4160:Dse	UTSW	10	34,029,330 (GRCm39)	missense	probably damaging	1.00
R4229:Dse	UTSW	10	34,038,740 (GRCm39)	missense	probably damaging	1.00
R4414:Dse	UTSW	10	34,028,632 (GRCm39)	missense	probably benign	0.04
R4667:Dse	UTSW	10	34,029,008 (GRCm39)	missense	probably damaging	1.00
R4669:Dse	UTSW	10	34,029,008 (GRCm39)	missense	probably damaging	1.00
R4777:Dse	UTSW	10	34,029,584 (GRCm39)	missense	possibly damaging	0.56
R5154:Dse	UTSW	10	34,029,657 (GRCm39)	missense	possibly damaging	0.83
R5573:Dse	UTSW	10	34,028,678 (GRCm39)	missense	probably benign	0.02
R5804:Dse	UTSW	10	34,029,375 (GRCm39)	missense	possibly damaging	0.84
R5844:Dse	UTSW	10	34,029,038 (GRCm39)	missense	probably damaging	0.99
R5895:Dse	UTSW	10	34,028,601 (GRCm39)	missense	probably damaging	1.00
R6290:Dse	UTSW	10	34,028,336 (GRCm39)	missense	probably benign	0.00
R6600:Dse	UTSW	10	34,028,537 (GRCm39)	missense	probably benign	0.06
R7088:Dse	UTSW	10	34,029,885 (GRCm39)	missense	probably damaging	1.00
R7254:Dse	UTSW	10	34,060,144 (GRCm39)	start gained	probably benign
R7491:Dse	UTSW	10	34,028,561 (GRCm39)	missense	probably benign
R7989:Dse	UTSW	10	34,029,454 (GRCm39)	nonsense	probably null
R8552:Dse	UTSW	10	34,028,316 (GRCm39)	missense	possibly damaging	0.78
R8799:Dse	UTSW	10	34,060,149 (GRCm39)	start gained	probably benign
R8862:Dse	UTSW	10	34,029,934 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-02-04