Mutagenetix > Incidental Mutation

Incidental Mutation 'R6820:Dsel'

537548

Institutional Source

Beutler Lab

Gene Symbol

Dsel

Ensembl Gene

ENSMUSG00000038702

Gene Name

dermatan sulfate epimerase-like

Synonyms

DS-epi2, 9330132E09Rik

MMRRC Submission

044932-MU

Accession Numbers

Essential gene?

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

Stock #

R6820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111786432-111792648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111787547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 996 (V996A)

Ref Sequence

ENSEMBL: ENSMUSP00000043570 (fasta)

Gene Model

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

AlphaFold

Q0VBN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035462
AA Change: V996A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: V996A

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

0.1247

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,673,266 (GRCm39)	N141Y	probably null	Het
Chkb	A	G	15: 89,312,379 (GRCm39)	L46P	probably damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Dna2	T	C	10: 62,800,683 (GRCm39)	I739T	possibly damaging	Het
Dnah17	T	C	11: 117,959,826 (GRCm39)	H2620R	probably damaging	Het
Dst	T	C	1: 34,250,337 (GRCm39)	L1757S	probably damaging	Het
Exoc5	A	T	14: 49,286,387 (GRCm39)		probably null	Het
Fam120a	A	T	13: 49,034,468 (GRCm39)	V1048E	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fbxw19	T	A	9: 109,311,079 (GRCm39)	T377S	probably benign	Het
Fbxw28	A	T	9: 109,167,493 (GRCm39)	F88Y	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Gtsf1	T	C	15: 103,328,954 (GRCm39)	T92A	probably benign	Het
Hoxc13	A	G	15: 102,830,257 (GRCm39)	Y212C	probably damaging	Het
Itih2	T	C	2: 10,102,909 (GRCm39)	I742V	probably benign	Het
Kat7	T	C	11: 95,174,965 (GRCm39)	T351A	probably damaging	Het
Mlh3	T	C	12: 85,294,497 (GRCm39)	D1233G	probably damaging	Het
Mroh2b	A	G	15: 4,982,756 (GRCm39)	D1525G	probably damaging	Het
Nme5	T	C	18: 34,704,626 (GRCm39)	Y73C	probably damaging	Het
Nr3c2	T	C	8: 77,969,086 (GRCm39)	V957A	probably damaging	Het
Nup153	A	G	13: 46,863,459 (GRCm39)	S301P	probably benign	Het
Obscn	T	C	11: 58,942,019 (GRCm39)	D5013G	probably damaging	Het
Or4f54	C	T	2: 111,123,455 (GRCm39)	P281S	probably damaging	Het
Or5p51	A	G	7: 107,444,298 (GRCm39)	V214A	probably benign	Het
Or8g51	A	G	9: 38,608,771 (GRCm39)	V297A	possibly damaging	Het
Pak1	A	G	7: 97,535,586 (GRCm39)	N226D	probably benign	Het
Pak4	A	G	7: 28,262,461 (GRCm39)	Y384H	probably benign	Het
Pkp3	T	C	7: 140,659,757 (GRCm39)		probably null	Het
Prxl2b	A	T	4: 154,982,623 (GRCm39)	D50E	probably damaging	Het
Psd	G	T	19: 46,309,283 (GRCm39)	A558E	probably damaging	Het
Psmd14	C	A	2: 61,607,068 (GRCm39)	H172N	probably benign	Het
Pygb	G	T	2: 150,658,674 (GRCm39)	W366L	possibly damaging	Het
Rbm39	A	T	2: 156,021,146 (GRCm39)	M1K	probably null	Het
Rnf213	T	C	11: 119,339,664 (GRCm39)	I3421T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,932,790 (GRCm39)	V88A	probably damaging	Het
Tha1	T	C	11: 117,762,504 (GRCm39)	E80G	probably benign	Het
Tie1	A	G	4: 118,341,583 (GRCm39)	V243A	probably damaging	Het
Tmem215	T	C	4: 40,473,926 (GRCm39)	M1T	probably null	Het
Tpm2	A	G	4: 43,518,443 (GRCm39)	Y221H	probably damaging	Het
Ubap1	C	T	4: 41,379,854 (GRCm39)	P356L	probably benign	Het
Wbp2nl	G	T	15: 82,197,996 (GRCm39)	A178S	possibly damaging	Het
Wdr54	A	T	6: 83,131,601 (GRCm39)	S139T	probably benign	Het
Wipi2	G	C	5: 142,615,555 (GRCm39)	Q14H	probably benign	Het
Zan	T	C	5: 137,406,106 (GRCm39)		probably benign	Het
Zfp735	A	G	11: 73,579,783 (GRCm39)	M1V	probably null	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
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'- TGCTAAGTGCTCTGGTACATTC -3'
(R):5'- TTGGTCCAGGATACAAAACTTCAC -3'

Sequencing Primer
(F):5'- GTGCTCTGGTACATTCTTCAAAG -3'
(R):5'- TCCATCTACATGAAACCAGTAGGAG -3'

Posted On

2018-10-18