Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01114:Dsel'

50292

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 #

IGL01114

Quality Score

Status

Chromosome

Chromosomal Location

111786432-111792648 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 111787791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 915 (R915*)

Ref Sequence

ENSEMBL: ENSMUSP00000043570 (fasta)

Gene Model

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

AlphaFold

Q0VBN2

Predicted Effect

probably null
Transcript: ENSMUST00000035462
AA Change: R915*

SMART Domains

Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: R915*

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700101I19Rik	T	C	1: 34,618,370 (GRCm39)		probably benign	Het
Abca15	T	G	7: 119,960,643 (GRCm39)	Y702D	probably damaging	Het
Abcc8	T	C	7: 45,754,088 (GRCm39)	K1576R	probably benign	Het
Acot12	T	A	13: 91,905,711 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,895,202 (GRCm39)	I1098V	probably benign	Het
Adcy6	C	T	15: 98,496,857 (GRCm39)	V471M	probably damaging	Het
Ccdc170	C	A	10: 4,508,550 (GRCm39)	D591E	probably benign	Het
Corin	A	C	5: 72,462,354 (GRCm39)	D826E	probably damaging	Het
Cpsf2	T	G	12: 101,956,098 (GRCm39)	N300K	possibly damaging	Het
Csmd2	C	T	4: 128,262,923 (GRCm39)	T703I	probably benign	Het
D130043K22Rik	T	A	13: 25,041,139 (GRCm39)	L187Q	probably damaging	Het
D430041D05Rik	G	T	2: 104,088,511 (GRCm39)	S155*	probably null	Het
Dmrtc2	C	T	7: 24,572,001 (GRCm39)	P32L	probably damaging	Het
Fam124b	T	C	1: 80,190,852 (GRCm39)	Y177C	possibly damaging	Het
Fam171b	G	A	2: 83,707,072 (GRCm39)	W314*	probably null	Het
Gpn1	G	T	5: 31,655,745 (GRCm39)	D103Y	probably damaging	Het
Gpr89	A	T	3: 96,800,865 (GRCm39)	F88I	probably damaging	Het
Ifi27l2a	T	C	12: 103,403,792 (GRCm39)		probably benign	Het
Kdm4d	A	G	9: 14,375,493 (GRCm39)	Y122H	probably damaging	Het
Oas1d	G	A	5: 121,054,907 (GRCm39)	V160I	probably benign	Het
Or5b108	A	G	19: 13,168,598 (GRCm39)	D189G	possibly damaging	Het
Or7e170	A	T	9: 19,794,844 (GRCm39)	Y252*	probably null	Het
Poglut3	T	C	9: 53,299,879 (GRCm39)		probably null	Het
Rrp1b	C	T	17: 32,271,793 (GRCm39)	P288S	probably benign	Het
Sin3b	A	G	8: 73,471,133 (GRCm39)	K360R	probably benign	Het
Sympk	A	G	7: 18,781,498 (GRCm39)	D818G	probably benign	Het
Tecpr2	A	G	12: 110,934,213 (GRCm39)	D1291G	possibly damaging	Het
Tep1	C	T	14: 51,088,096 (GRCm39)	V814M	probably damaging	Het
Tpsg1	T	C	17: 25,592,196 (GRCm39)	V17A	probably benign	Het

Other mutations in Dsel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01562:Dsel	APN	1	111,788,049 (GRCm39)	missense	probably benign
IGL01591:Dsel	APN	1	111,787,425 (GRCm39)	missense	probably benign	0.08
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

2013-06-21