Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03182:Dsel'

412275

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: 0.101) question?

Stock #

IGL03182

Quality Score

Status

Chromosome

Chromosomal Location

111786432-111792648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111787868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 889 (E889G)

Ref Sequence

ENSEMBL: ENSMUSP00000043570 (fasta)

Gene Model

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

AlphaFold

Q0VBN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035462
AA Change: E889G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: E889G

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	T	6: 34,780,435 (GRCm39)	K469N	probably damaging	Het
Aldh2	A	G	5: 121,718,787 (GRCm39)		probably benign	Het
Ankfy1	T	C	11: 72,619,580 (GRCm39)		probably benign	Het
Ankhd1	C	T	18: 36,711,827 (GRCm39)	T209I	probably benign	Het
Aox3	G	A	1: 58,205,046 (GRCm39)	V754I	probably benign	Het
Arfgef3	C	T	10: 18,476,292 (GRCm39)	R1509H	probably damaging	Het
Ccdc157	A	G	11: 4,101,832 (GRCm39)	S30P	probably damaging	Het
Cept1	T	A	3: 106,411,866 (GRCm39)	E369D	probably damaging	Het
Clcnka	T	C	4: 141,121,798 (GRCm39)	Y236C	probably damaging	Het
Ddx42	A	T	11: 106,138,353 (GRCm39)	L717F	probably benign	Het
Dnah11	A	T	12: 117,994,026 (GRCm39)	I2340N	probably damaging	Het
Fasn	T	C	11: 120,703,552 (GRCm39)	Y1560C	probably damaging	Het
Fermt2	A	T	14: 45,699,225 (GRCm39)	M623K	possibly damaging	Het
Gm21970	T	A	16: 91,190,726 (GRCm39)	S110T	possibly damaging	Het
Gm826	T	A	2: 160,169,035 (GRCm39)	R91S	unknown	Het
Lrrn3	A	G	12: 41,504,020 (GRCm39)	L99S	probably damaging	Het
Megf8	T	A	7: 25,046,773 (GRCm39)	M1552K	possibly damaging	Het
Mgll	G	T	6: 88,800,173 (GRCm39)	V191F	probably damaging	Het
Nkapd1	T	C	9: 50,523,698 (GRCm39)	N50S	possibly damaging	Het
Nol8	C	A	13: 49,817,557 (GRCm39)	H778N	probably damaging	Het
Or1e26	T	A	11: 73,480,268 (GRCm39)	T99S	probably benign	Het
Or5b116	A	C	19: 13,422,807 (GRCm39)	T144P	possibly damaging	Het
Or8g30	A	T	9: 39,230,277 (GRCm39)	M211K	probably benign	Het
Or8k40	A	T	2: 86,584,366 (GRCm39)	S239T	probably damaging	Het
Pfkfb3	A	T	2: 11,506,474 (GRCm39)	I13N	probably damaging	Het
Pim1	T	A	17: 29,710,740 (GRCm39)	D114E	possibly damaging	Het
Pkd1	T	C	17: 24,792,792 (GRCm39)	L1493P	probably damaging	Het
Plb1	A	T	5: 32,502,259 (GRCm39)		probably benign	Het
Plch1	A	T	3: 63,610,015 (GRCm39)	Y872*	probably null	Het
Rictor	A	G	15: 6,819,079 (GRCm39)	D1434G	probably benign	Het
Rptor	G	A	11: 119,615,971 (GRCm39)	G162R	probably damaging	Het
Serping1	T	C	2: 84,596,162 (GRCm39)	D424G	probably damaging	Het
Slit2	A	G	5: 48,377,395 (GRCm39)	I475V	possibly damaging	Het
Snx31	G	T	15: 36,525,833 (GRCm39)	Q289K	probably benign	Het
Tbc1d13	G	A	2: 30,037,379 (GRCm39)	A254T	probably damaging	Het
Tek	T	C	4: 94,740,002 (GRCm39)	I750T	probably damaging	Het
Tet2	A	T	3: 133,177,159 (GRCm39)	L1296*	probably null	Het
Tmem145	T	A	7: 25,014,304 (GRCm39)	F459I	probably damaging	Het
Uba5	A	T	9: 103,931,328 (GRCm39)	V247D	possibly damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Zfp609	A	G	9: 65,608,287 (GRCm39)	S1198P	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
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

2016-08-02