Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02407:Degs2'

292141

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Degs2

Ensembl Gene

ENSMUSG00000021263

Gene Name

delta 4-desaturase, sphingolipid 2

Synonyms

Des2, 2210008A03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

108653051-108668561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108658254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 242 (T242P)

Ref Sequence

ENSEMBL: ENSMUSP00000125891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021689] [ENSMUST00000021691] [ENSMUST00000077735] [ENSMUST00000109854] [ENSMUST00000167978] [ENSMUST00000172409]

AlphaFold

Q8R2F2

Predicted Effect

probably benign
Transcript: ENSMUST00000021689

SMART Domains

Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262

Domain	Start	End	E-Value	Type
WH1	1	109	7.72e-53	SMART
low complexity region	172	204	N/A	INTRINSIC
low complexity region	216	228	N/A	INTRINSIC
low complexity region	240	251	N/A	INTRINSIC
Pfam:VASP_tetra	375	411	2.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000021691
AA Change: T242P

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

SMART Domains

Protein: ENSMUSP00000021691
Gene: ENSMUSG00000021263
AA Change: T242P

Domain	Start	End	E-Value	Type
Lipid_DES	5	43	5.57e-18	SMART
Pfam:FA_desaturase	65	294	3.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077735

SMART Domains

Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262

Domain	Start	End	E-Value	Type
WH1	1	109	7.72e-53	SMART
low complexity region	172	204	N/A	INTRINSIC
low complexity region	216	228	N/A	INTRINSIC
low complexity region	240	251	N/A	INTRINSIC
Pfam:VASP_tetra	353	392	2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109854

SMART Domains

Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262

Domain	Start	End	E-Value	Type
WH1	7	115	1.87e-51	SMART
low complexity region	178	210	N/A	INTRINSIC
low complexity region	222	234	N/A	INTRINSIC
low complexity region	246	257	N/A	INTRINSIC
Pfam:VASP_tetra	359	398	7.1e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167978
AA Change: T242P

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

SMART Domains

Protein: ENSMUSP00000125891
Gene: ENSMUSG00000021263
AA Change: T242P

Domain	Start	End	E-Value	Type
Lipid_DES	5	43	5.57e-18	SMART
Pfam:FA_desaturase	64	275	1.1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172409

SMART Domains

Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262

Domain	Start	End	E-Value	Type
WH1	1	96	5.82e-39	SMART
low complexity region	159	191	N/A	INTRINSIC
low complexity region	203	215	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
Pfam:VASP_tetra	361	400	1.6e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221885

Predicted Effect

unknown
Transcript: ENSMUST00000222255
AA Change: T63P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222048

Predicted Effect

probably benign
Transcript: ENSMUST00000223548

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,645,575 (GRCm39)	W1040*	probably null	Het
Adgrv1	C	A	13: 81,627,789 (GRCm39)	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,718,295 (GRCm39)	Y345*	probably null	Het
Aplp2	A	T	9: 31,069,823 (GRCm39)	Y496*	probably null	Het
Ash1l	T	C	3: 88,979,855 (GRCm39)	V2793A	probably damaging	Het
Bfsp1	A	T	2: 143,668,853 (GRCm39)	D575E	probably benign	Het
Ceacam20	G	T	7: 19,704,332 (GRCm39)	V128F	probably benign	Het
Cers4	A	T	8: 4,570,306 (GRCm39)	K204*	probably null	Het
Cog1	T	C	11: 113,544,852 (GRCm39)	Y345H	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col19a1	A	T	1: 24,351,453 (GRCm39)		probably null	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,388,652 (GRCm39)	M275K	probably damaging	Het
Elac2	T	C	11: 64,890,001 (GRCm39)	V612A	probably benign	Het
Elovl6	T	A	3: 129,398,733 (GRCm39)	F45I	probably damaging	Het
Exoc1	A	C	5: 76,693,193 (GRCm39)	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309 (GRCm39)	S101T	possibly damaging	Het
Garre1	A	T	7: 33,955,909 (GRCm39)	N393K	probably damaging	Het
Glyr1	A	G	16: 4,854,812 (GRCm39)	F89L	probably benign	Het
Herc4	C	A	10: 63,142,203 (GRCm39)	T668K	probably damaging	Het
Hibadh	C	T	6: 52,525,874 (GRCm39)	V259I	possibly damaging	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Ift80	G	T	3: 68,805,869 (GRCm39)	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,550,223 (GRCm39)		probably benign	Het
Irf9	G	T	14: 55,842,678 (GRCm39)	A75S	possibly damaging	Het
Kif13a	C	T	13: 46,938,769 (GRCm39)	V76M	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Lgals8	A	G	13: 12,469,699 (GRCm39)	W87R	probably benign	Het
Mccc2	G	A	13: 100,127,816 (GRCm39)	P96L	probably damaging	Het
Megf11	A	C	9: 64,587,531 (GRCm39)	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,321,008 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,281 (GRCm39)	V230A	probably benign	Het
Nif3l1	G	T	1: 58,496,956 (GRCm39)	V294L	possibly damaging	Het
Or4k39	T	A	2: 111,238,923 (GRCm39)		noncoding transcript	Het
Pcdhb13	T	A	18: 37,576,128 (GRCm39)	Y169N	probably damaging	Het
Peg3	A	G	7: 6,710,635 (GRCm39)	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,279,915 (GRCm39)	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,424,836 (GRCm39)	R242W	unknown	Het
Prrc2a	A	T	17: 35,379,480 (GRCm39)	D255E	unknown	Het
Rapgef6	G	T	11: 54,567,181 (GRCm39)	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,585,303 (GRCm39)	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,810,042 (GRCm39)		probably benign	Het
Slc30a9	A	G	5: 67,510,065 (GRCm39)	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,826,777 (GRCm39)	S172G	probably benign	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Smurf1	A	T	5: 144,821,534 (GRCm39)	M496K	probably damaging	Het
Srgap2	A	T	1: 131,247,340 (GRCm39)	V564D	probably damaging	Het
Stk32a	T	C	18: 43,430,576 (GRCm39)	I162T	probably benign	Het
Tchhl1	A	T	3: 93,378,634 (GRCm39)	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584 (GRCm39)	H211Q	probably damaging	Het
Trim3	T	C	7: 105,262,218 (GRCm39)	N586S	probably benign	Het
Trpm1	A	G	7: 63,868,869 (GRCm39)	E507G	probably damaging	Het
Tyk2	G	T	9: 21,020,523 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,365,316 (GRCm39)	K310*	probably null	Het
Unc13a	T	A	8: 72,101,586 (GRCm39)	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,359,228 (GRCm39)	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,741,770 (GRCm39)	I161F	probably damaging	Het
Zcchc17	A	G	4: 130,243,108 (GRCm39)	M25T	probably benign	Het
Zfp563	G	A	17: 33,323,795 (GRCm39)	R130Q	probably benign	Het
Zhx2	A	G	15: 57,686,802 (GRCm39)	S724G	probably benign	Het

Other mutations in Degs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02755:Degs2	APN	12	108,658,842 (GRCm39)	missense	probably benign
largo	UTSW	12	108,658,413 (GRCm39)	missense	probably damaging	1.00
R0039:Degs2	UTSW	12	108,656,848 (GRCm39)	missense	probably damaging	1.00
R0044:Degs2	UTSW	12	108,658,413 (GRCm39)	missense	probably damaging	1.00
R0044:Degs2	UTSW	12	108,658,413 (GRCm39)	missense	probably damaging	1.00
R0441:Degs2	UTSW	12	108,668,469 (GRCm39)	missense	probably damaging	0.97
R1642:Degs2	UTSW	12	108,658,451 (GRCm39)	missense	probably benign
R4183:Degs2	UTSW	12	108,658,358 (GRCm39)	missense	probably damaging	1.00
R4817:Degs2	UTSW	12	108,655,325 (GRCm39)	nonsense	probably null
R6268:Degs2	UTSW	12	108,658,839 (GRCm39)	missense	probably damaging	1.00
R6863:Degs2	UTSW	12	108,668,457 (GRCm39)	missense	probably damaging	1.00
R7626:Degs2	UTSW	12	108,658,332 (GRCm39)	missense	possibly damaging	0.68
R7839:Degs2	UTSW	12	108,658,460 (GRCm39)	frame shift	probably null
R8356:Degs2	UTSW	12	108,658,223 (GRCm39)	missense	possibly damaging	0.89
Z1177:Degs2	UTSW	12	108,658,856 (GRCm39)	missense	probably benign	0.11

Posted On

2015-04-16