Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01591:Dsel'

91595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsel

Ensembl Gene

ENSMUSG00000038702

Gene Name

dermatan sulfate epimerase-like

Synonyms

DS-epi2, 9330132E09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL01591

Quality Score

Status

Chromosome

Chromosomal Location

111786432-111792648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111787425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1037 (Y1037H)

Ref Sequence

ENSEMBL: ENSMUSP00000043570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035462]

AlphaFold

Q0VBN2

Predicted Effect

probably benign
Transcript: ENSMUST00000035462
AA Change: Y1037H

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: Y1037H

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	120	131	N/A	INTRINSIC
low complexity region	568	577	N/A	INTRINSIC
transmembrane domain	769	791	N/A	INTRINSIC
transmembrane domain	798	817	N/A	INTRINSIC
Pfam:Sulfotransfer_1	847	1201	2.1e-12	PFAM
Pfam:Sulfotransfer_3	848	1143	1.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189731

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced epimerase activity in the skin, lung, liver, spleen, kidney and brain and reduced iduronic acid content in the brain and kidney chondroitin sulfate/dermatan sulfate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	T	11: 84,134,146 (GRCm39)	G420W	probably damaging	Het
Adamts17	G	A	7: 66,654,144 (GRCm39)	R458H	probably damaging	Het
Adprs	T	C	4: 126,212,274 (GRCm39)	T82A	probably damaging	Het
Ccdc158	T	A	5: 92,809,900 (GRCm39)	I203L	probably benign	Het
Commd10	C	A	18: 47,096,735 (GRCm39)	S47R	probably benign	Het
Crb1	T	C	1: 139,165,077 (GRCm39)	T1016A	probably damaging	Het
Crhbp	T	A	13: 95,580,295 (GRCm39)	I95F	probably damaging	Het
Cyp3a11	A	T	5: 145,812,291 (GRCm39)		probably benign	Het
Epha1	T	C	6: 42,337,485 (GRCm39)	D898G	probably damaging	Het
Esr2	T	A	12: 76,168,498 (GRCm39)		probably benign	Het
Exosc10	T	A	4: 148,647,344 (GRCm39)		probably benign	Het
Fat4	A	T	3: 39,064,524 (GRCm39)	R4827*	probably null	Het
Gm11596	A	T	11: 99,683,624 (GRCm39)	C165*	probably null	Het
Heatr5b	A	G	17: 79,115,901 (GRCm39)	S852P	probably benign	Het
Mcm3ap	C	T	10: 76,306,639 (GRCm39)	P251S	probably benign	Het
Nmur2	A	G	11: 55,917,825 (GRCm39)	V388A	probably benign	Het
Parp14	T	C	16: 35,678,877 (GRCm39)	T364A	possibly damaging	Het
Rarb	T	A	14: 16,434,207 (GRCm38)	I370F	possibly damaging	Het
Rnf32	T	A	5: 29,429,272 (GRCm39)	I283N	probably damaging	Het
Smg8	A	G	11: 86,975,979 (GRCm39)	V77A	probably damaging	Het
Tnn	T	C	1: 159,953,144 (GRCm39)	E632G	probably damaging	Het
Trip11	A	T	12: 101,849,604 (GRCm39)	S1487T	probably damaging	Het
Vmn2r58	T	C	7: 41,514,753 (GRCm39)	K72R	probably benign	Het
Vmn2r92	A	G	17: 18,405,423 (GRCm39)	I856V	unknown	Het

Other mutations in Dsel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Dsel	APN	1	111,787,791 (GRCm39)	nonsense	probably null
IGL01562:Dsel	APN	1	111,788,049 (GRCm39)	missense	probably benign
IGL01822:Dsel	APN	1	111,789,626 (GRCm39)	missense	probably damaging	1.00
IGL02289:Dsel	APN	1	111,787,832 (GRCm39)	nonsense	probably null
IGL02557:Dsel	APN	1	111,790,300 (GRCm39)	missense	probably damaging	1.00
IGL02805:Dsel	APN	1	111,790,046 (GRCm39)	missense	probably damaging	1.00
IGL02864:Dsel	APN	1	111,786,944 (GRCm39)	missense	probably damaging	1.00
IGL02887:Dsel	APN	1	111,788,462 (GRCm39)	missense	possibly damaging	0.90
IGL03092:Dsel	APN	1	111,787,793 (GRCm39)	missense	probably damaging	1.00
IGL03117:Dsel	APN	1	111,786,908 (GRCm39)	utr 3 prime	probably benign
IGL03182:Dsel	APN	1	111,787,868 (GRCm39)	missense	probably damaging	0.99
rudolph	UTSW	1	111,787,547 (GRCm39)	missense	probably damaging	0.99
R0196:Dsel	UTSW	1	111,789,333 (GRCm39)	missense	possibly damaging	0.86
R0465:Dsel	UTSW	1	111,789,992 (GRCm39)	missense	probably benign	0.00
R0725:Dsel	UTSW	1	111,787,682 (GRCm39)	missense	possibly damaging	0.79
R1024:Dsel	UTSW	1	111,788,403 (GRCm39)	missense	probably damaging	1.00
R1147:Dsel	UTSW	1	111,789,939 (GRCm39)	missense	possibly damaging	0.71
R1147:Dsel	UTSW	1	111,789,939 (GRCm39)	missense	possibly damaging	0.71
R1654:Dsel	UTSW	1	111,790,242 (GRCm39)	missense	probably damaging	1.00
R1728:Dsel	UTSW	1	111,787,724 (GRCm39)	missense	probably benign
R1728:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R1729:Dsel	UTSW	1	111,787,724 (GRCm39)	missense	probably benign
R1729:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R1730:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R1730:Dsel	UTSW	1	111,787,724 (GRCm39)	missense	probably benign
R1735:Dsel	UTSW	1	111,788,645 (GRCm39)	missense	probably damaging	1.00
R1739:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R1739:Dsel	UTSW	1	111,787,724 (GRCm39)	missense	probably benign
R1762:Dsel	UTSW	1	111,787,724 (GRCm39)	missense	probably benign
R1762:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R1783:Dsel	UTSW	1	111,787,724 (GRCm39)	missense	probably benign
R1783:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R1785:Dsel	UTSW	1	111,787,724 (GRCm39)	missense	probably benign
R1785:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R2049:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R2080:Dsel	UTSW	1	111,787,692 (GRCm39)	missense	probably benign
R2141:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R2142:Dsel	UTSW	1	111,787,187 (GRCm39)	missense	probably benign
R2150:Dsel	UTSW	1	111,787,987 (GRCm39)	missense	probably benign	0.04
R4324:Dsel	UTSW	1	111,789,123 (GRCm39)	missense	probably damaging	1.00
R5378:Dsel	UTSW	1	111,790,551 (GRCm39)	start gained	probably benign
R5881:Dsel	UTSW	1	111,787,168 (GRCm39)	missense	probably damaging	1.00
R5919:Dsel	UTSW	1	111,787,983 (GRCm39)	missense	probably benign
R6820:Dsel	UTSW	1	111,787,547 (GRCm39)	missense	probably damaging	0.99
R7003:Dsel	UTSW	1	111,788,025 (GRCm39)	missense	probably benign
R7064:Dsel	UTSW	1	111,790,577 (GRCm39)	start gained	probably benign
R7297:Dsel	UTSW	1	111,789,506 (GRCm39)	missense	probably damaging	1.00
R7340:Dsel	UTSW	1	111,789,303 (GRCm39)	missense	probably damaging	1.00
R7341:Dsel	UTSW	1	111,789,303 (GRCm39)	missense	probably damaging	1.00
R7343:Dsel	UTSW	1	111,789,303 (GRCm39)	missense	probably damaging	1.00
R7346:Dsel	UTSW	1	111,788,798 (GRCm39)	missense	probably damaging	1.00
R7347:Dsel	UTSW	1	111,789,303 (GRCm39)	missense	probably damaging	1.00
R7365:Dsel	UTSW	1	111,789,303 (GRCm39)	missense	probably damaging	1.00
R7366:Dsel	UTSW	1	111,789,303 (GRCm39)	missense	probably damaging	1.00
R7367:Dsel	UTSW	1	111,789,303 (GRCm39)	missense	probably damaging	1.00
R7393:Dsel	UTSW	1	111,789,303 (GRCm39)	missense	probably damaging	1.00
R7974:Dsel	UTSW	1	111,788,229 (GRCm39)	missense	probably benign	0.00
R7978:Dsel	UTSW	1	111,787,449 (GRCm39)	nonsense	probably null
R8220:Dsel	UTSW	1	111,789,437 (GRCm39)	missense	probably damaging	1.00
R8434:Dsel	UTSW	1	111,789,385 (GRCm39)	missense	probably damaging	1.00
R8688:Dsel	UTSW	1	111,790,468 (GRCm39)	nonsense	probably null
R8819:Dsel	UTSW	1	111,787,994 (GRCm39)	missense	probably benign	0.11
R8820:Dsel	UTSW	1	111,787,994 (GRCm39)	missense	probably benign	0.11
R8923:Dsel	UTSW	1	111,788,284 (GRCm39)	missense	possibly damaging	0.85
R9014:Dsel	UTSW	1	111,788,509 (GRCm39)	nonsense	probably null
R9196:Dsel	UTSW	1	111,787,863 (GRCm39)	missense	probably benign	0.01
R9384:Dsel	UTSW	1	111,787,863 (GRCm39)	nonsense	probably null
R9427:Dsel	UTSW	1	111,787,425 (GRCm39)	missense	probably damaging	0.99
X0057:Dsel	UTSW	1	111,786,940 (GRCm39)	missense	probably benign
Z1177:Dsel	UTSW	1	111,789,446 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09