Mutagenetix > Incidental Mutation

Incidental Mutation 'R7088:Dse'

550023

Institutional Source

Beutler Lab

Gene Symbol

Dse

Ensembl Gene

ENSMUSG00000039497

Gene Name

dermatan sulfate epimerase

Synonyms

Sart2, B130024B19Rik, DS-epi1

MMRRC Submission

045182-MU

Accession Numbers

Essential gene?

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

Stock #

R7088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34027389-34083711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34029885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 402 (Y402H)

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: Y402H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: Y402H

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

probably damaging
Transcript: ENSMUST00000217051
AA Change: Y266H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (77/78)

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
1700020L24Rik	G	T	11: 83,331,232 (GRCm39)	E48*	probably null	Het
Acaca	T	C	11: 84,169,783 (GRCm39)		probably null	Het
Albfm1	T	A	5: 90,720,609 (GRCm39)	L260*	probably null	Het
Alkbh3	A	G	2: 93,835,097 (GRCm39)	S83P	possibly damaging	Het
Ammecr1l	T	C	18: 31,904,872 (GRCm39)	S38P	probably benign	Het
Armc10	T	C	5: 21,858,390 (GRCm39)	V145A	probably damaging	Het
BC048671	A	G	6: 90,280,222 (GRCm39)	K46R	probably null	Het
C2cd3	A	G	7: 100,065,388 (GRCm39)	T347A		Het
C8b	G	T	4: 104,650,540 (GRCm39)	E449D	probably benign	Het
Camk4	T	C	18: 33,072,584 (GRCm39)	S46P	probably benign	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Cd177	A	T	7: 24,444,558 (GRCm39)	C674*	probably null	Het
Cdc6	T	A	11: 98,810,065 (GRCm39)	V458D	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Ckap2	G	T	8: 22,659,882 (GRCm39)	P533Q	possibly damaging	Het
Cma1	T	A	14: 56,181,273 (GRCm39)	H44L	probably damaging	Het
Cmya5	A	T	13: 93,228,372 (GRCm39)	S2239T	possibly damaging	Het
Cntnap5b	T	A	1: 100,087,802 (GRCm39)	I141N	probably damaging	Het
Col6a4	T	A	9: 105,877,885 (GRCm39)	T2031S	possibly damaging	Het
Cplane1	C	T	15: 8,248,431 (GRCm39)	T1660M	probably benign	Het
Cxcr5	T	A	9: 44,424,683 (GRCm39)	T325S	possibly damaging	Het
Dhx32	A	T	7: 133,344,417 (GRCm39)	L204Q	probably damaging	Het
Ecpas	A	T	4: 58,849,766 (GRCm39)	L458I	possibly damaging	Het
Exoc6	G	T	19: 37,565,458 (GRCm39)	C178F	probably damaging	Het
Fam149a	A	G	8: 45,803,582 (GRCm39)	V384A	probably benign	Het
Fcrl5	T	C	3: 87,365,141 (GRCm39)	*597Q	probably null	Het
Fer1l6	A	G	15: 58,435,899 (GRCm39)	K431E	possibly damaging	Het
Fmo3	T	A	1: 162,796,434 (GRCm39)	H46L	probably benign	Het
Gcm2	T	C	13: 41,256,840 (GRCm39)	D303G	probably damaging	Het
Gk2	T	C	5: 97,603,534 (GRCm39)	M435V	probably damaging	Het
Gli1	C	A	10: 127,171,868 (GRCm39)	M295I	probably damaging	Het
Gm11444	G	T	11: 85,737,862 (GRCm39)	H109Q		Het
Gtpbp1	T	A	15: 79,603,483 (GRCm39)	D182E		Het
Hnf4g	A	T	3: 3,713,185 (GRCm39)		probably null	Het
Hsf2	G	A	10: 57,388,188 (GRCm39)	R483H	probably damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Lama3	T	C	18: 12,715,602 (GRCm39)	V1686A	possibly damaging	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Mboat1	T	G	13: 30,379,772 (GRCm39)		probably null	Het
Mdh1	T	C	11: 21,508,484 (GRCm39)	Y286C	probably damaging	Het
Mga	G	T	2: 119,792,417 (GRCm39)	K2607N	probably damaging	Het
Morf4l1	C	A	9: 89,979,433 (GRCm39)	V183F	possibly damaging	Het
Mroh4	G	A	15: 74,497,993 (GRCm39)	R196W	probably benign	Het
Muc16	C	A	9: 18,503,976 (GRCm39)	M6438I	probably damaging	Het
Myom3	A	G	4: 135,530,589 (GRCm39)	Y1167C	probably damaging	Het
Neurl3	T	C	1: 36,308,302 (GRCm39)	E170G	possibly damaging	Het
Nsd3	T	C	8: 26,156,050 (GRCm39)	I539T	probably benign	Het
Nup155	T	C	15: 8,186,177 (GRCm39)	F1313S	probably benign	Het
Nxn	A	T	11: 76,153,974 (GRCm39)	V287E	possibly damaging	Het
Or4a80	G	A	2: 89,582,443 (GRCm39)	T243I	probably benign	Het
Or7a38	A	C	10: 78,753,593 (GRCm39)	L306F	probably benign	Het
Or8c13	C	A	9: 38,091,748 (GRCm39)	V124F	probably damaging	Het
Pax6	A	G	2: 105,526,753 (GRCm39)	N220D	probably benign	Het
Pcdha11	G	A	18: 37,138,470 (GRCm39)	R33H	probably benign	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pear1	C	A	3: 87,661,945 (GRCm39)	V477F	possibly damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pidd1	A	T	7: 141,020,400 (GRCm39)	V539E	probably damaging	Het
Ptprg	A	T	14: 12,207,365 (GRCm38)	I878F	probably damaging	Het
Rabepk	T	C	2: 34,675,711 (GRCm39)	T140A	probably benign	Het
Ranbp2	G	T	10: 58,299,728 (GRCm39)	R454L	probably damaging	Het
Rnf123	C	T	9: 107,935,735 (GRCm39)	R943Q	probably null	Het
Sash1	G	A	10: 8,605,481 (GRCm39)	R970*	probably null	Het
Serpinb2	C	A	1: 107,452,422 (GRCm39)	F333L	probably damaging	Het
Shank3	T	A	15: 89,387,728 (GRCm39)		probably null	Het
Slc9a2	A	C	1: 40,765,539 (GRCm39)	I310L	probably damaging	Het
Strip2	T	A	6: 29,920,532 (GRCm39)		probably null	Het
Thoc3	T	C	13: 54,611,565 (GRCm39)	T241A	probably damaging	Het
Tmem139	T	A	6: 42,240,199 (GRCm39)	V2E	probably damaging	Het
Usp24	G	T	4: 106,244,743 (GRCm39)	V1233F	probably damaging	Het
Vnn1	A	G	10: 23,776,645 (GRCm39)	Q332R	probably benign	Het
Wac	T	A	18: 7,921,455 (GRCm39)	H530Q	probably damaging	Het
Wdr35	T	A	12: 9,028,659 (GRCm39)	N92K	probably benign	Het
Zbtb18	T	G	1: 177,274,820 (GRCm39)	L60R	probably damaging	Het
Zfp184	T	A	13: 22,144,162 (GRCm39)	C623S	probably damaging	Het
Zfp292	A	G	4: 34,806,796 (GRCm39)	Y2088H	probably damaging	Het
Zfp975	G	T	7: 42,312,096 (GRCm39)	S172R	probably benign	Het
Zswim2	G	A	2: 83,746,071 (GRCm39)	Q456*	probably null	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
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
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'- GGTGTACTTTGGCCCATACAG -3'
(R):5'- ATTACCATGTGGCACCATAGC -3'

Sequencing Primer
(F):5'- TGAACGGCACACCATTGG -3'
(R):5'- CATGTGGCACCATAGCTCTAGTGAG -3'

Posted On

2019-05-15