Mutagenetix > Incidental Mutation

Incidental Mutation 'R4324:Dsel'

323941

Institutional Source

Beutler Lab

Gene Symbol

Dsel

Ensembl Gene

ENSMUSG00000038702

Gene Name

dermatan sulfate epimerase-like

Synonyms

DS-epi2, 9330132E09Rik

MMRRC Submission

041095-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R4324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111786432-111792648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111789123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 471 (T471A)

Ref Sequence

ENSEMBL: ENSMUSP00000043570 (fasta)

Gene Model

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

AlphaFold

Q0VBN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035462
AA Change: T471A

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

SMART Domains

Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: T471A

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afp	A	G	5: 90,655,764 (GRCm39)	D583G	probably benign	Het
Alg9	T	G	9: 50,716,643 (GRCm39)	H22Q	probably damaging	Het
Aqp6	G	A	15: 99,499,291 (GRCm39)	M1I	probably null	Het
Arhgef10	T	A	8: 14,990,335 (GRCm39)	I270N	possibly damaging	Het
Asb13	G	T	13: 3,695,012 (GRCm39)	R160L	possibly damaging	Het
Atg10	T	A	13: 91,189,085 (GRCm39)	D75V	probably damaging	Het
Atxn7l2	A	T	3: 108,113,148 (GRCm39)	D218E	probably damaging	Het
Ccdc191	A	G	16: 43,767,872 (GRCm39)	E624G	probably damaging	Het
Cdan1	T	C	2: 120,555,460 (GRCm39)	I760M	probably damaging	Het
Cdk14	T	A	5: 5,086,532 (GRCm39)	K263*	probably null	Het
Cdk5rap2	A	T	4: 70,271,851 (GRCm39)	I287N	probably damaging	Het
Cdkn2aip	A	T	8: 48,165,208 (GRCm39)	S168R	probably benign	Het
Dnah17	C	T	11: 117,985,039 (GRCm39)	V1555M	probably benign	Het
Dzank1	T	C	2: 144,330,618 (GRCm39)	E478G	possibly damaging	Het
Enc1	T	C	13: 97,382,405 (GRCm39)	F305S	probably benign	Het
Epn1	T	A	7: 5,100,210 (GRCm39)	M441K	probably benign	Het
Fbxw24	C	T	9: 109,434,013 (GRCm39)		probably null	Het
Gad1	G	A	2: 70,420,174 (GRCm39)	D353N	probably damaging	Het
Ggcx	A	G	6: 72,405,803 (GRCm39)	S545G	probably benign	Het
H2-K2	C	T	17: 34,219,014 (GRCm39)	V30M	possibly damaging	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Krt82	T	A	15: 101,450,182 (GRCm39)	M505L	probably benign	Het
Man2a1	A	G	17: 64,973,788 (GRCm39)	I355V	probably benign	Het
Or5p53	C	T	7: 107,532,900 (GRCm39)	P58S	probably damaging	Het
Pcbp3	G	A	10: 76,599,177 (GRCm39)	R109*	probably null	Het
Pcgf1	T	C	6: 83,056,938 (GRCm39)		probably null	Het
Plekhm2	A	T	4: 141,359,168 (GRCm39)	V533E	possibly damaging	Het
Prss3	T	G	6: 41,350,779 (GRCm39)	D237A	probably benign	Het
Rnf125	G	A	18: 21,110,817 (GRCm39)	R25K	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shc4	T	A	2: 125,520,670 (GRCm39)	M260L	probably benign	Het
Spag6l	T	C	16: 16,605,099 (GRCm39)	Y151C	probably benign	Het
Stac3	C	T	10: 127,339,118 (GRCm39)	P76S	probably damaging	Het
Trpc7	T	C	13: 57,035,169 (GRCm39)	I255V	probably damaging	Het
Ttn	T	C	2: 76,738,923 (GRCm39)	E3872G	probably benign	Het
Uqcrfs1	A	G	13: 30,725,141 (GRCm39)	V133A	probably benign	Het
Vmn2r52	T	A	7: 9,904,940 (GRCm39)	T300S	possibly damaging	Het
Wipi1	A	T	11: 109,494,662 (GRCm39)	I57N	possibly damaging	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
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	111,787,187 (GRCm39)	missense	probably benign
R1729:Dsel	UTSW	1	111,787,724 (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	111,787,724 (GRCm39)	missense	probably benign
R1739:Dsel	UTSW	1	111,787,187 (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
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

Predicted Primers

PCR Primer
(F):5'- AGTAATAACTTCCCCAGCTGC -3'
(R):5'- GCACACATTTCCTAACTGGGG -3'

Sequencing Primer
(F):5'- GTAATAACTTCCCCAGCTGCATCAC -3'
(R):5'- ACACATTTCCTAACTGGGGTGTCG -3'

Posted On

2015-06-24