Mutagenetix > Incidental Mutation

Incidental Mutation 'R8688:Dsel'

668220

Institutional Source

Beutler Lab

Gene Symbol

Dsel

Ensembl Gene

ENSMUSG00000038702

Gene Name

dermatan sulfate epimerase-like

Synonyms

9330132E09Rik, DS-epi2

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111858702-111864918 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 111862738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 22 (C22*)

Ref Sequence

ENSEMBL: ENSMUSP00000043570 (fasta)

Gene Model

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

AlphaFold

Q0VBN2

Predicted Effect

probably null
Transcript: ENSMUST00000035462
AA Change: C22*

SMART Domains

Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: C22*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 145,045,373	T256I	probably damaging	Het
2700097O09Rik	C	T	12: 55,057,351	G161D	probably damaging	Het
4932438A13Rik	T	A	3: 37,035,917	Y745N		Het
Acvr1	G	A	2: 58,462,949	A333V	probably damaging	Het
Adamtsl1	A	C	4: 86,248,026	S209R		Het
Akr1c18	T	C	13: 4,137,195	K207E	possibly damaging	Het
Anapc1	T	G	2: 128,685,828	Q70P	probably benign	Het
Arhgef33	A	G	17: 80,373,186	E585G	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,571	E29G	probably damaging	Het
Baz1b	T	G	5: 135,242,489	S1309A	probably benign	Het
Bdp1	T	C	13: 100,103,799	R14G	probably damaging	Het
Ccdc150	A	C	1: 54,367,973	Q1058H	probably damaging	Het
Cdk5rap2	A	G	4: 70,380,273	F74S	probably damaging	Het
CK137956	C	T	4: 127,950,946	E335K	possibly damaging	Het
Cyp2c66	A	T	19: 39,163,440	I200F	probably benign	Het
Dmbt1	T	A	7: 131,058,254	W412R	unknown	Het
Ep400	A	G	5: 110,720,819	M949T	unknown	Het
Gcc1	A	T	6: 28,418,740	Y531*	probably null	Het
Gm10277	T	C	11: 77,785,579	R189G	unknown	Het
Gm17078	T	A	14: 51,611,230	R17*	probably null	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Grip1	A	G	10: 119,999,904	I502V	probably benign	Het
H2-M9	A	T	17: 36,642,142	V91D	probably damaging	Het
Hcls1	T	C	16: 36,961,459	L310P	probably benign	Het
Hsd17b11	T	A	5: 104,021,718	I8F	probably benign	Het
Ildr2	A	T	1: 166,269,533	D107V	probably damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,572,301		probably benign	Het
Josd2	T	C	7: 44,471,216	W126R	probably damaging	Het
Ltbp2	T	A	12: 84,803,804	D912V	probably benign	Het
Mdc1	A	G	17: 35,850,491	I765M	probably benign	Het
Mroh1	A	G	15: 76,428,350	E579G	probably benign	Het
Nmur2	T	C	11: 56,040,828	N19S	probably damaging	Het
Obscn	T	C	11: 59,056,083	Y4075C	probably damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr1286	C	T	2: 111,420,613	V113I	probably benign	Het
Olfr916	T	A	9: 38,657,751	I214L	probably benign	Het
Orm1	G	A	4: 63,346,341	V167M	probably damaging	Het
Phf14	A	G	6: 11,990,035	N688D	probably damaging	Het
Phlpp2	A	G	8: 109,904,380	K219E	probably damaging	Het
Prdm2	T	C	4: 143,111,740	T1683A	probably benign	Het
Ptprh	T	A	7: 4,551,023	Q815L	probably benign	Het
Rag1	A	T	2: 101,642,623	Y725N	probably damaging	Het
Rp1	T	A	1: 4,346,405	I1495F	probably benign	Het
Scn3a	A	G	2: 65,525,703	V229A	possibly damaging	Het
Siglech	A	G	7: 55,768,614	D110G	probably benign	Het
St8sia2	A	T	7: 73,943,344	D321E	probably damaging	Het
Stxbp3	A	G	3: 108,802,109		probably benign	Het
Tbccd1	A	T	16: 22,822,458	S390T	possibly damaging	Het
Tg	T	A	15: 66,694,953		probably benign	Het
Trio	T	A	15: 27,748,238	N2443Y	possibly damaging	Het
Ube2s	C	T	7: 4,810,578	M62I	probably benign	Het
Ugt2b37	T	C	5: 87,242,381	D402G	possibly damaging	Het
Vmn2r80	A	G	10: 79,168,235	N94S	probably damaging	Het
Wapl	T	A	14: 34,692,592	S470R	possibly damaging	Het
Xrra1	A	G	7: 99,906,545	E373G	probably damaging	Het
Zfp335	A	G	2: 164,892,193	Y1329H	probably damaging	Het
Zfp689	C	A	7: 127,444,912	C182F	probably benign	Het
Zfp933	T	A	4: 147,826,792	S116C	probably benign	Het

Other mutations in Dsel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Dsel	APN	1	111860061	nonsense	probably null
IGL01562:Dsel	APN	1	111860319	missense	probably benign
IGL01591:Dsel	APN	1	111859695	missense	probably benign	0.08
IGL01822:Dsel	APN	1	111861896	missense	probably damaging	1.00
IGL02289:Dsel	APN	1	111860102	nonsense	probably null
IGL02557:Dsel	APN	1	111862570	missense	probably damaging	1.00
IGL02805:Dsel	APN	1	111862316	missense	probably damaging	1.00
IGL02864:Dsel	APN	1	111859214	missense	probably damaging	1.00
IGL02887:Dsel	APN	1	111860732	missense	possibly damaging	0.90
IGL03092:Dsel	APN	1	111860063	missense	probably damaging	1.00
IGL03117:Dsel	APN	1	111859178	utr 3 prime	probably benign
IGL03182:Dsel	APN	1	111860138	missense	probably damaging	0.99
rudolph	UTSW	1	111859817	missense	probably damaging	0.99
R0196:Dsel	UTSW	1	111861603	missense	possibly damaging	0.86
R0465:Dsel	UTSW	1	111862262	missense	probably benign	0.00
R0725:Dsel	UTSW	1	111859952	missense	possibly damaging	0.79
R1024:Dsel	UTSW	1	111860673	missense	probably damaging	1.00
R1147:Dsel	UTSW	1	111862209	missense	possibly damaging	0.71
R1147:Dsel	UTSW	1	111862209	missense	possibly damaging	0.71
R1654:Dsel	UTSW	1	111862512	missense	probably damaging	1.00
R1728:Dsel	UTSW	1	111859457	missense	probably benign
R1728:Dsel	UTSW	1	111859994	missense	probably benign
R1729:Dsel	UTSW	1	111859457	missense	probably benign
R1729:Dsel	UTSW	1	111859994	missense	probably benign
R1730:Dsel	UTSW	1	111859457	missense	probably benign
R1730:Dsel	UTSW	1	111859994	missense	probably benign
R1735:Dsel	UTSW	1	111860915	missense	probably damaging	1.00
R1739:Dsel	UTSW	1	111859457	missense	probably benign
R1739:Dsel	UTSW	1	111859994	missense	probably benign
R1762:Dsel	UTSW	1	111859457	missense	probably benign
R1762:Dsel	UTSW	1	111859994	missense	probably benign
R1783:Dsel	UTSW	1	111859457	missense	probably benign
R1783:Dsel	UTSW	1	111859994	missense	probably benign
R1785:Dsel	UTSW	1	111859457	missense	probably benign
R1785:Dsel	UTSW	1	111859994	missense	probably benign
R2049:Dsel	UTSW	1	111859457	missense	probably benign
R2080:Dsel	UTSW	1	111859962	missense	probably benign
R2141:Dsel	UTSW	1	111859457	missense	probably benign
R2142:Dsel	UTSW	1	111859457	missense	probably benign
R2150:Dsel	UTSW	1	111860257	missense	probably benign	0.04
R4324:Dsel	UTSW	1	111861393	missense	probably damaging	1.00
R5378:Dsel	UTSW	1	111862821	start gained	probably benign
R5881:Dsel	UTSW	1	111859438	missense	probably damaging	1.00
R5919:Dsel	UTSW	1	111860253	missense	probably benign
R6820:Dsel	UTSW	1	111859817	missense	probably damaging	0.99
R7003:Dsel	UTSW	1	111860295	missense	probably benign
R7064:Dsel	UTSW	1	111862847	start gained	probably benign
R7297:Dsel	UTSW	1	111861776	missense	probably damaging	1.00
R7340:Dsel	UTSW	1	111861573	missense	probably damaging	1.00
R7341:Dsel	UTSW	1	111861573	missense	probably damaging	1.00
R7343:Dsel	UTSW	1	111861573	missense	probably damaging	1.00
R7346:Dsel	UTSW	1	111861068	missense	probably damaging	1.00
R7347:Dsel	UTSW	1	111861573	missense	probably damaging	1.00
R7365:Dsel	UTSW	1	111861573	missense	probably damaging	1.00
R7366:Dsel	UTSW	1	111861573	missense	probably damaging	1.00
R7367:Dsel	UTSW	1	111861573	missense	probably damaging	1.00
R7393:Dsel	UTSW	1	111861573	missense	probably damaging	1.00
R7974:Dsel	UTSW	1	111860499	missense	probably benign	0.00
R7978:Dsel	UTSW	1	111859719	nonsense	probably null
R8220:Dsel	UTSW	1	111861707	missense	probably damaging	1.00
R8434:Dsel	UTSW	1	111861655	missense	probably damaging	1.00
R8819:Dsel	UTSW	1	111860264	missense	probably benign	0.11
R8820:Dsel	UTSW	1	111860264	missense	probably benign	0.11
R8923:Dsel	UTSW	1	111860554	missense	possibly damaging	0.85
R9014:Dsel	UTSW	1	111860779	nonsense	probably null
R9196:Dsel	UTSW	1	111860133	missense	probably benign	0.01
R9384:Dsel	UTSW	1	111860133	nonsense	probably null
R9427:Dsel	UTSW	1	111859695	missense	probably damaging	0.99
X0057:Dsel	UTSW	1	111859210	missense	probably benign
Z1177:Dsel	UTSW	1	111861716	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAATGGCTTGTACGAGAC -3'
(R):5'- TTTGAATAAGCTGAATGTCACCTGG -3'

Sequencing Primer
(F):5'- CAAATGGCTTGTACGAGACTTTTG -3'
(R):5'- ACCTGGATTTCACAGCCTATGAGG -3'

Posted On

2021-04-30