Mutagenetix > Incidental Mutation

Incidental Mutation 'R1857:Dse'

206246

Institutional Source

Beutler Lab

Gene Symbol

Dse

Ensembl Gene

ENSMUSG00000039497

Gene Name

dermatan sulfate epimerase

Synonyms

Sart2, B130024B19Rik, DS-epi1

MMRRC Submission

039881-MU

Accession Numbers

Essential gene?

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

Stock #

R1857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34027389-34083711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34029225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 622 (T622A)

Ref Sequence

ENSEMBL: ENSMUSP00000040074 (fasta)

Gene Model

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

AlphaFold

Q8BLI4

Predicted Effect

probably benign
Transcript: ENSMUST00000048010
AA Change: T622A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: T622A

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

Meta Mutation Damage Score

0.0718

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,766,789 (GRCm39)	I57N	probably damaging	Het
Abca15	T	C	7: 119,960,592 (GRCm39)	S685P	probably damaging	Het
Adpgk	G	T	9: 59,222,248 (GRCm39)	V392L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amdhd1	A	T	10: 93,367,416 (GRCm39)	I246N	probably damaging	Het
Amhr2	T	A	15: 102,355,212 (GRCm39)	L165*	probably null	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Ccdc33	T	C	9: 57,939,991 (GRCm39)	N750S	possibly damaging	Het
Cdh23	A	G	10: 60,159,076 (GRCm39)	I2233T	probably damaging	Het
Cfap46	C	A	7: 139,233,324 (GRCm39)	V774F	probably damaging	Het
Cfap69	G	T	5: 5,632,518 (GRCm39)	T362K	possibly damaging	Het
Cnih3	A	G	1: 181,277,638 (GRCm39)	H101R	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp2j5	T	C	4: 96,547,723 (GRCm39)	E173G	possibly damaging	Het
Cyp3a41b	T	A	5: 145,503,660 (GRCm39)	I296F	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dync1h1	T	A	12: 110,629,059 (GRCm39)	F4205L	probably damaging	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif3h	T	C	15: 51,662,674 (GRCm39)	Y124C	probably damaging	Het
Eif4g3	A	T	4: 137,903,187 (GRCm39)	Q1169L	possibly damaging	Het
Endod1	T	A	9: 14,268,405 (GRCm39)	H360L	probably benign	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Frem2	T	A	3: 53,562,294 (GRCm39)	T738S	probably benign	Het
Gm1527	A	T	3: 28,957,539 (GRCm39)	T148S	probably damaging	Het
Gm4894	T	C	9: 49,189,976 (GRCm39)	S84P	unknown	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il1f10	A	T	2: 24,182,817 (GRCm39)	D31V	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp11	A	T	10: 75,764,191 (GRCm39)	D91E	probably benign	Het
Mpped2	T	C	2: 106,613,989 (GRCm39)	Y108H	probably damaging	Het
Mroh9	A	G	1: 162,866,714 (GRCm39)	V674A	probably damaging	Het
Mtor	G	T	4: 148,565,336 (GRCm39)	Q1015H	probably damaging	Het
Mylk3	G	A	8: 86,055,223 (GRCm39)	T711I	probably damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Neurl4	G	T	11: 69,796,361 (GRCm39)	G435V	probably damaging	Het
Nipal2	A	G	15: 34,678,779 (GRCm39)	S21P	possibly damaging	Het
Nphp1	T	A	2: 127,612,296 (GRCm39)	D217V	probably benign	Het
Nphp3	T	C	9: 103,898,493 (GRCm39)	I432T	possibly damaging	Het
Oprd1	T	G	4: 131,840,992 (GRCm39)	D322A	probably damaging	Het
Or10ag2	T	C	2: 87,248,992 (GRCm39)	L198P	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or56a3b	T	G	7: 104,770,751 (GRCm39)	L29R	probably benign	Het
Pcdh10	C	A	3: 45,334,372 (GRCm39)	Q229K	possibly damaging	Het
Pdlim7	G	A	13: 55,653,858 (GRCm39)	T253M	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Pigc	T	G	1: 161,798,446 (GRCm39)	S143A	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,408 (GRCm39)	D1294G	possibly damaging	Het
Ppp2r1a	T	C	17: 21,181,951 (GRCm39)	S490P	possibly damaging	Het
Ppp2r3d	T	A	9: 101,090,092 (GRCm39)	N77I	probably damaging	Het
Pramel17	T	C	4: 101,692,770 (GRCm39)	Y410C	probably damaging	Het
Pramel29	C	T	4: 143,935,091 (GRCm39)	V217I	possibly damaging	Het
Prl7a2	A	T	13: 27,843,163 (GRCm39)	C213*	probably null	Het
Prpf8	T	A	11: 75,386,249 (GRCm39)		probably null	Het
Psmd7	A	T	8: 108,311,525 (GRCm39)	N109K	probably damaging	Het
Ptprn	T	C	1: 75,224,549 (GRCm39)	K936E	possibly damaging	Het
Ro60	T	C	1: 143,646,488 (GRCm39)	T86A	probably benign	Het
Ror1	A	T	4: 100,298,700 (GRCm39)	Q691L	probably damaging	Het
Sars2	A	G	7: 28,449,437 (GRCm39)	M322V	probably benign	Het
Scfd2	C	A	5: 74,372,962 (GRCm39)	E638*	probably null	Het
Scgb3a2	A	G	18: 43,899,900 (GRCm39)	T63A	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Smarcd1	A	G	15: 99,607,295 (GRCm39)	K382E	probably damaging	Het
Sox5	T	A	6: 143,906,541 (GRCm39)	S305C	probably damaging	Het
Sp5	C	A	2: 70,307,213 (GRCm39)	H299Q	possibly damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Tmprss6	A	G	15: 78,336,752 (GRCm39)	F383L	probably damaging	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Ugt2b34	T	C	5: 87,052,241 (GRCm39)	T252A	possibly damaging	Het
Vangl2	A	T	1: 171,837,464 (GRCm39)	L115Q	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vwa5b1	A	G	4: 138,296,413 (GRCm39)	F1205L	probably damaging	Het
Zfp951	G	C	5: 104,962,723 (GRCm39)	T281R	probably damaging	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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
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'- TCCATGGATGCTGAAGCTCTG -3'
(R):5'- AGGAGCATATAACCCCATGC -3'

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

Posted On

2014-06-23