Mutagenetix > Incidental Mutation

Incidental Mutation 'R7343:Dsel'

569972

Institutional Source

Beutler Lab

Gene Symbol

Dsel

Ensembl Gene

ENSMUSG00000038702

Gene Name

dermatan sulfate epimerase-like

Synonyms

DS-epi2, 9330132E09Rik

MMRRC Submission

045433-MU

Accession Numbers

Essential gene?

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

Stock #

R7343 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111786432-111792648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111789303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 411 (G411S)

Ref Sequence

ENSEMBL: ENSMUSP00000043570 (fasta)

Gene Model

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

AlphaFold

Q0VBN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035462
AA Change: G411S

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

SMART Domains

Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: G411S

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

Meta Mutation Damage Score

0.5608

Coding Region Coverage

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

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	C	6: 83,139,353 (GRCm39)	N426T	probably benign	Het
6430548M08Rik	A	G	8: 120,872,327 (GRCm39)	D85G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abcg3	A	T	5: 105,116,100 (GRCm39)	F245I	probably benign	Het
Abhd17a	G	T	10: 80,419,991 (GRCm39)	F231L	possibly damaging	Het
Adgra1	A	T	7: 139,456,058 (GRCm39)	D562V	probably damaging	Het
Akap7	C	A	10: 25,165,567 (GRCm39)		probably benign	Het
Akap9	A	G	5: 4,096,364 (GRCm39)	D2413G	probably damaging	Het
Akr1c18	A	T	13: 4,187,236 (GRCm39)	C193S	probably damaging	Het
Aloxe3	A	T	11: 69,023,569 (GRCm39)	M231L	probably benign	Het
Apoh	A	G	11: 108,286,674 (GRCm39)	T33A	probably benign	Het
Atp13a5	T	C	16: 29,140,567 (GRCm39)	N330D	probably benign	Het
C1ql3	T	G	2: 13,015,589 (GRCm39)	M24L	probably benign	Het
Cacna1d	T	C	14: 29,845,014 (GRCm39)	N712S	probably benign	Het
Cbs	T	C	17: 31,838,113 (GRCm39)	M379V	possibly damaging	Het
Ccdc167	T	C	17: 29,924,517 (GRCm39)	D28G	probably damaging	Het
Ccp110	A	T	7: 118,323,798 (GRCm39)	Q679L	probably benign	Het
Ccz1	A	T	5: 143,935,000 (GRCm39)	L310H	probably damaging	Het
Cerkl	A	T	2: 79,259,104 (GRCm39)	D44E	probably damaging	Het
Cfap221	T	A	1: 119,922,828 (GRCm39)	E38V	possibly damaging	Het
Chia1	T	A	3: 106,039,331 (GRCm39)	*474R	probably null	Het
Clint1	C	T	11: 45,774,590 (GRCm39)	T32M	probably damaging	Het
Clk3	A	T	9: 57,668,239 (GRCm39)	F227L	probably damaging	Het
Col5a3	C	T	9: 20,705,242 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,426,873 (GRCm39)	I501T	probably benign	Het
Dag1	G	A	9: 108,086,292 (GRCm39)	A283V	possibly damaging	Het
Ddr2	A	T	1: 169,809,647 (GRCm39)	W777R	probably damaging	Het
Deaf1	A	T	7: 140,902,871 (GRCm39)	V151D	probably damaging	Het
Dido1	A	T	2: 180,316,914 (GRCm39)	V631E	possibly damaging	Het
Dpp4	G	A	2: 62,189,245 (GRCm39)	Q429*	probably null	Het
Dscaml1	A	G	9: 45,664,214 (GRCm39)	R2030G	probably benign	Het
E2f8	T	A	7: 48,517,713 (GRCm39)	M697L	probably damaging	Het
Eef2kmt	C	A	16: 5,065,299 (GRCm39)	G303W	probably damaging	Het
Eif2ak1	A	G	5: 143,814,489 (GRCm39)	Y182C	probably damaging	Het
Epha6	G	T	16: 59,780,793 (GRCm39)	A636E	probably damaging	Het
Fancd2	G	A	6: 113,513,900 (GRCm39)	V95I	probably benign	Het
Fbln5	A	T	12: 101,727,075 (GRCm39)	C292S	probably damaging	Het
Fgfr4	A	G	13: 55,306,968 (GRCm39)	Y219C	probably damaging	Het
Frem1	T	G	4: 82,912,359 (GRCm39)	K670T	probably damaging	Het
Fsip2	A	T	2: 82,809,711 (GRCm39)	H2010L	probably benign	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gbe1	A	G	16: 70,157,903 (GRCm39)	T101A	probably benign	Het
Gm5114	T	A	7: 39,058,180 (GRCm39)	I480F	probably damaging	Het
Gm7145	A	T	1: 117,913,842 (GRCm39)	R241S	probably damaging	Het
Gnal	G	A	18: 67,268,596 (GRCm39)	V161I	probably benign	Het
Gtpbp1	T	C	15: 79,575,243 (GRCm39)	C46R	probably benign	Het
Gucy2c	A	T	6: 136,679,746 (GRCm39)	L971Q	probably damaging	Het
Hsp90b1	T	C	10: 86,528,047 (GRCm39)	E740G	probably damaging	Het
Lingo2	G	A	4: 35,709,450 (GRCm39)	L177F	possibly damaging	Het
Mfsd6l	A	G	11: 68,447,874 (GRCm39)	T242A	possibly damaging	Het
Mmadhc	C	T	2: 50,181,457 (GRCm39)	R71K	probably damaging	Het
Mrm3	G	T	11: 76,140,726 (GRCm39)	V245L	probably damaging	Het
Nav3	T	A	10: 109,739,619 (GRCm39)	I117F	probably damaging	Het
Noc3l	A	T	19: 38,783,468 (GRCm39)	V636D	probably damaging	Het
Nwd1	A	T	8: 73,438,410 (GRCm39)	Q1486L	probably damaging	Het
Or10aa1	A	T	1: 173,870,419 (GRCm39)	K301M	probably damaging	Het
Or2y10	A	G	11: 49,455,329 (GRCm39)	T194A	possibly damaging	Het
Or3a10	G	T	11: 73,935,726 (GRCm39)	R125S	possibly damaging	Het
Or4c11c	T	G	2: 88,662,190 (GRCm39)	I243R	probably damaging	Het
Or6c5b	C	G	10: 129,245,852 (GRCm39)	L206V	possibly damaging	Het
Pax9	T	A	12: 56,742,647 (GRCm39)	M1K	probably null	Het
Pcdha1	T	C	18: 37,063,702 (GRCm39)	V122A	probably damaging	Het
Pgpep1l	A	T	7: 67,887,469 (GRCm39)	S44T	probably damaging	Het
Pla2g3	C	T	11: 3,443,022 (GRCm39)	L452F	possibly damaging	Het
Plbd2	G	A	5: 120,631,214 (GRCm39)	R188W	probably damaging	Het
Ppp1r42	G	A	1: 10,039,082 (GRCm39)	P346L	probably benign	Het
Prdm8	T	A	5: 98,332,375 (GRCm39)	V92D	probably damaging	Het
Ripor2	C	A	13: 24,885,427 (GRCm39)	S554*	probably null	Het
Rps19	T	C	7: 24,584,571 (GRCm39)	V4A	probably damaging	Het
Rrm2b	T	A	15: 37,944,817 (GRCm39)	I159F	probably benign	Het
Rusc1	C	A	3: 88,999,057 (GRCm39)	G242W	probably damaging	Het
Sarm1	A	G	11: 78,388,083 (GRCm39)	S68P	possibly damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Slc22a4	A	G	11: 53,877,364 (GRCm39)	F509S	possibly damaging	Het
Slc39a12	G	A	2: 14,456,811 (GRCm39)	A600T	probably damaging	Het
Spta1	A	T	1: 174,050,915 (GRCm39)	H1798L	probably damaging	Het
Sulf2	T	G	2: 165,919,536 (GRCm39)	D804A	possibly damaging	Het
Suz12	A	T	11: 79,910,529 (GRCm39)	E316D	probably benign	Het
Tbrg4	A	G	11: 6,570,065 (GRCm39)	S270P	probably benign	Het
Tecta	T	C	9: 42,248,628 (GRCm39)	T1925A	probably damaging	Het
Thrap3	A	T	4: 126,072,223 (GRCm39)	F390I	probably damaging	Het
Tpr	C	A	1: 150,269,245 (GRCm39)	A70E	unknown	Het
Trpv4	G	C	5: 114,774,520 (GRCm39)	P188R	probably benign	Het
Txlna	A	C	4: 129,525,953 (GRCm39)	L298R	probably damaging	Het
Ubr4	T	C	4: 139,140,749 (GRCm39)	S1223P	probably benign	Het
Ucp1	A	T	8: 84,021,881 (GRCm39)	T238S	probably damaging	Het
Ush2a	A	G	1: 188,147,943 (GRCm39)	S957G	probably benign	Het
Usp34	A	G	11: 23,438,868 (GRCm39)	N3496D		Het
Vmn2r50	T	C	7: 9,784,277 (GRCm39)		probably null	Het
Wdr54	A	G	6: 83,131,921 (GRCm39)	V130A	probably benign	Het
Zfp692	A	T	11: 58,202,331 (GRCm39)	E362V	probably damaging	Het
Zfp811	A	G	17: 33,016,487 (GRCm39)	Y518H	probably damaging	Het
Zfp994	A	C	17: 22,419,049 (GRCm39)	C633W	probably benign	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
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
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'- ATACCTGCCCATTAGGAGCG -3'
(R):5'- GTTCATTTTACAGAATGGAGCTGG -3'

Sequencing Primer
(F):5'- CTGCCCATTAGGAGCGAAAGTAAATG -3'
(R):5'- AGCTGGAAATTGGTTAGCTCAGC -3'

Posted On

2019-09-13