Mutagenetix > Incidental Mutation

Incidental Mutation 'R1502:Dse'

169375

Institutional Source

Beutler Lab

Gene Symbol

Dse

Ensembl Gene

ENSMUSG00000039497

Gene Name

dermatan sulfate epimerase

Synonyms

Sart2, B130024B19Rik, DS-epi1

MMRRC Submission

039552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R1502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34027389-34083711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34029214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 625 (S625R)

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: S625R

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

SMART Domains

Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: S625R

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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	G	11: 109,865,471 (GRCm39)	T329P	probably damaging	Het
Adamts4	C	A	1: 171,086,559 (GRCm39)	P784T	probably damaging	Het
Adamts6	T	C	13: 104,630,145 (GRCm39)	L1096P	probably damaging	Het
Ap1b1	A	G	11: 4,990,290 (GRCm39)	S849G	probably benign	Het
Arap2	T	C	5: 62,761,747 (GRCm39)	S1660G	probably benign	Het
Atp10b	A	C	11: 43,121,174 (GRCm39)	T946P	probably damaging	Het
Brpf1	A	G	6: 113,299,381 (GRCm39)	D1103G	probably damaging	Het
Bub1	A	G	2: 127,669,339 (GRCm39)	Y102H	probably damaging	Het
Ccdc182	A	G	11: 88,185,193 (GRCm39)	E91G	probably benign	Het
Cd200r4	C	T	16: 44,653,803 (GRCm39)	T154M	probably damaging	Het
Cdh20	A	G	1: 104,881,755 (GRCm39)	T407A	probably benign	Het
Col6a2	T	C	10: 76,450,512 (GRCm39)	I140V	probably benign	Het
Csn3	C	A	5: 88,077,983 (GRCm39)	T163K	probably damaging	Het
Dars2	A	T	1: 160,874,375 (GRCm39)	L438*	probably null	Het
Dbr1	T	C	9: 99,464,440 (GRCm39)	L289P	probably damaging	Het
Ddx46	A	G	13: 55,811,122 (GRCm39)	R573G	possibly damaging	Het
Defb10	T	C	8: 22,348,972 (GRCm39)	I10T	possibly damaging	Het
Dis3l	T	C	9: 64,233,069 (GRCm39)	E136G	possibly damaging	Het
Dnajb13	T	C	7: 100,156,668 (GRCm39)	Q136R	probably benign	Het
Dvl3	A	G	16: 20,342,209 (GRCm39)	D94G	probably damaging	Het
Dynlt2a2	A	G	17: 15,187,876 (GRCm39)	F133L	probably benign	Het
E130311K13Rik	A	C	3: 63,822,968 (GRCm39)	Y225*	probably null	Het
Etnppl	A	G	3: 130,422,438 (GRCm39)	I222V	probably benign	Het
Evc2	T	C	5: 37,550,440 (GRCm39)	L818P	probably benign	Het
Fbn1	A	T	2: 125,205,626 (GRCm39)	C1083*	probably null	Het
Flnc	G	A	6: 29,438,693 (GRCm39)	V196I	probably benign	Het
Fscn3	A	G	6: 28,435,622 (GRCm39)	D415G	probably benign	Het
Gm4861	A	C	3: 137,256,381 (GRCm39)	V75G	probably damaging	Het
Gpld1	A	T	13: 25,155,399 (GRCm39)	T345S	probably benign	Het
Grik4	T	C	9: 42,432,169 (GRCm39)	S943G	probably damaging	Het
Grik4	C	T	9: 42,502,743 (GRCm39)	R460Q	probably benign	Het
Ifi207	A	C	1: 173,556,872 (GRCm39)	L629R	possibly damaging	Het
Ift52	G	A	2: 162,871,782 (GRCm39)		probably null	Het
Insl3	A	G	8: 72,142,876 (GRCm39)	D79G	probably damaging	Het
Kif5a	A	T	10: 127,081,310 (GRCm39)	I208N	probably damaging	Het
Lag3	T	C	6: 124,886,206 (GRCm39)	Y249C	probably damaging	Het
Lipe	T	C	7: 25,097,572 (GRCm39)	N124D	possibly damaging	Het
Lnpep	A	G	17: 17,791,906 (GRCm39)	Y412H	probably damaging	Het
Lrtm2	A	G	6: 119,294,235 (GRCm39)	Y299H	probably benign	Het
Lypd4	T	C	7: 24,566,253 (GRCm39)	T24A	probably benign	Het
Magi1	T	A	6: 93,671,151 (GRCm39)	I805F	probably damaging	Het
Mfap3	T	C	11: 57,418,975 (GRCm39)	L45P	probably benign	Het
Nbea	G	A	3: 55,912,310 (GRCm39)	P1159L	probably benign	Het
Ndst4	A	T	3: 125,231,407 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,374,335 (GRCm39)	N229K	possibly damaging	Het
Nova1	A	G	12: 46,767,615 (GRCm39)	I102T	unknown	Het
Npepps	T	C	11: 97,109,401 (GRCm39)	E725G	possibly damaging	Het
Or11g27	A	T	14: 50,771,234 (GRCm39)	M122L	possibly damaging	Het
Or13a1	T	C	6: 116,471,242 (GRCm39)	I224T	probably damaging	Het
Or5l14	T	C	2: 87,792,379 (GRCm39)	N286D	probably damaging	Het
Or6c69c	T	C	10: 129,910,741 (GRCm39)	I154T	probably damaging	Het
Pappa2	A	T	1: 158,784,858 (GRCm39)	W51R	probably damaging	Het
Pde8a	T	C	7: 80,942,007 (GRCm39)	S149P	probably damaging	Het
Pgap6	A	G	17: 26,339,290 (GRCm39)	T535A	possibly damaging	Het
Phkb	T	A	8: 86,785,968 (GRCm39)	L1052Q	possibly damaging	Het
Pou5f2	T	A	13: 78,173,370 (GRCm39)	L104Q	probably benign	Het
Pramel32	T	A	4: 88,546,269 (GRCm39)	I358F	probably benign	Het
Psme2b	A	T	11: 48,836,576 (GRCm39)	W124R	probably damaging	Het
Ptk2b	G	A	14: 66,400,529 (GRCm39)	S762L	possibly damaging	Het
Ptprs	T	C	17: 56,744,992 (GRCm39)	N248S	probably benign	Het
Rgs22	G	A	15: 36,080,997 (GRCm39)	T705I	probably damaging	Het
Rnf123	T	C	9: 107,945,709 (GRCm39)		probably null	Het
Sel1l2	A	T	2: 140,231,515 (GRCm39)	I13N	probably damaging	Het
Slc39a4	T	C	15: 76,500,793 (GRCm39)	T57A	probably benign	Het
Smpdl3a	T	G	10: 57,685,187 (GRCm39)	V319G	probably damaging	Het
Syt9	T	C	7: 107,035,694 (GRCm39)	L237P	probably damaging	Het
Tbc1d16	G	T	11: 119,044,830 (GRCm39)	A536E	probably damaging	Het
Tcf20	T	C	15: 82,739,777 (GRCm39)	D558G	probably damaging	Het
Tdpoz2	A	T	3: 93,559,453 (GRCm39)	M173K	probably benign	Het
Tek	A	G	4: 94,669,339 (GRCm39)	I113M	probably damaging	Het
Tmem50a	A	T	4: 134,636,980 (GRCm39)	D50E	probably benign	Het
Trappc11	A	T	8: 47,983,862 (GRCm39)	V10E	possibly damaging	Het
Vmn1r172	C	T	7: 23,359,681 (GRCm39)	R189*	probably null	Het
Vmn2r63	A	T	7: 42,578,015 (GRCm39)	D174E	possibly damaging	Het
Zc3h10	A	T	10: 128,380,151 (GRCm39)	M402K	probably damaging	Het
Zfp109	T	C	7: 23,927,588 (GRCm39)	H615R	probably damaging	Het
Zfp982	A	C	4: 147,597,126 (GRCm39)	H161P	probably benign	Het
Zhx1	A	G	15: 57,917,992 (GRCm39)	F85L	probably 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
IGL01828:Dse	APN	10	34,028,772 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- GATGCTGAAGCTCTGGACATCCAC -3'
(R):5'- AGAAGGCGTAGGAGCATATAACCCC -3'

Sequencing Primer
(F):5'- TCTGGACATCCACAGATGGC -3'
(R):5'- TGAAGCACATTCAACGGAATCTC -3'

Posted On

2014-04-13