Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Degs1'

345989

Institutional Source

Beutler Lab

Gene Symbol

Degs1

Ensembl Gene

ENSMUSG00000038633

Gene Name

delta 4-desaturase, sphingolipid 1

Synonyms

Des1, Mdes

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R4606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182103529-182110366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 182104388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 299 (D299G)

Ref Sequence

ENSEMBL: ENSMUSP00000048519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035295] [ENSMUST00000133052]

AlphaFold

O09005

Predicted Effect

probably damaging
Transcript: ENSMUST00000035295
AA Change: D299G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: D299G

Domain	Start	End	E-Value	Type
Lipid_DES	5	43	4.36e-20	SMART
Pfam:FA_desaturase	65	293	1.1e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132551

Predicted Effect

probably benign
Transcript: ENSMUST00000133052

SMART Domains

Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
transmembrane domain	37	55	N/A	INTRINSIC
Pfam:FA_desaturase	59	260	4.5e-20	PFAM

Meta Mutation Damage Score

0.5645

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, decreased to absent ceramide levels, decreased body weight, scaly skin, sparse hair, tremors, hematological and blood chemistry abnormalities, decreased bone mineral content and density and decreased liver function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,937,374 (GRCm39)	W178R	probably benign	Het
Abcb5	T	C	12: 118,896,345 (GRCm39)		probably null	Het
Akr1b1	C	A	6: 34,283,599 (GRCm39)		probably benign	Het
Arid1a	A	G	4: 133,414,634 (GRCm39)	F1199S	unknown	Het
Atp4b	A	G	8: 13,439,998 (GRCm39)	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,729,443 (GRCm39)	S127P	probably damaging	Het
Blk	C	T	14: 63,611,652 (GRCm39)	V428I	probably benign	Het
Ccser1	T	C	6: 61,288,568 (GRCm39)	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,173,951 (GRCm39)	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,513,579 (GRCm39)	Y173N	possibly damaging	Het
Ddr2	T	A	1: 169,829,421 (GRCm39)	I278F	probably benign	Het
Dip2b	G	A	15: 100,113,210 (GRCm39)	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 50,095,248 (GRCm39)	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,016,015 (GRCm39)		probably benign	Het
Ephb6	A	G	6: 41,593,508 (GRCm39)	Y518C	probably benign	Het
Eps15l1	A	T	8: 73,127,760 (GRCm39)	F606I	possibly damaging	Het
Extl1	A	G	4: 134,098,690 (GRCm39)	S114P	probably damaging	Het
Extl1	A	C	4: 134,098,691 (GRCm39)	D113E	probably benign	Het
Fat1	T	C	8: 45,403,720 (GRCm39)	V157A	possibly damaging	Het
Fcho1	A	T	8: 72,165,124 (GRCm39)	D444E	probably benign	Het
Fgd3	T	A	13: 49,450,036 (GRCm39)	D71V	probably damaging	Het
Fgd5	T	A	6: 91,965,190 (GRCm39)	D316E	possibly damaging	Het
Gys2	A	T	6: 142,400,210 (GRCm39)	F334I	possibly damaging	Het
Ik	G	T	18: 36,886,608 (GRCm39)	R360L	possibly damaging	Het
Kazn	A	C	4: 141,845,599 (GRCm39)		probably null	Het
Kmt2d	A	T	15: 98,737,597 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,582 (GRCm39)		probably benign	Het
Krt87	C	T	15: 101,384,930 (GRCm39)	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,460,658 (GRCm39)	V428A	probably benign	Het
Lvrn	C	A	18: 46,997,832 (GRCm39)	T260K	possibly damaging	Het
Mcc	C	T	18: 44,601,488 (GRCm39)	E614K	probably damaging	Het
Msrb3	A	T	10: 120,685,902 (GRCm39)	V81D	probably damaging	Het
Muc19	C	T	15: 91,832,268 (GRCm39)		noncoding transcript	Het
Myadm	T	A	7: 3,345,916 (GRCm39)	L226*	probably null	Het
Myof	C	T	19: 37,955,547 (GRCm39)	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,327,204 (GRCm39)		probably benign	Het
Or1r1	A	G	11: 73,874,718 (GRCm39)	S239P	probably damaging	Het
Or4b1	G	T	2: 89,979,160 (GRCm39)		probably benign	Het
Or4c35	C	A	2: 89,808,350 (GRCm39)	A76D	possibly damaging	Het
Or9g10	T	A	2: 85,584,284 (GRCm39)		probably benign	Het
Pars2	T	C	4: 106,511,247 (GRCm39)	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,398,581 (GRCm39)	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,441,705 (GRCm39)	D338E	probably damaging	Het
Pik3r2	G	A	8: 71,224,780 (GRCm39)	R199*	probably null	Het
Pla2g4f	C	T	2: 120,144,467 (GRCm39)	R24Q	probably benign	Het
Pnma2	T	C	14: 67,153,681 (GRCm39)	I35T	probably benign	Het
Podn	C	A	4: 107,875,064 (GRCm39)	A568S	probably benign	Het
Pou3f1	A	T	4: 124,552,629 (GRCm39)	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,038,929 (GRCm39)	D494G	probably damaging	Het
Pramel34	A	T	5: 93,784,461 (GRCm39)	D137E	probably damaging	Het
Ptpn9	A	T	9: 56,929,495 (GRCm39)	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,486 (GRCm39)	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf217	T	A	10: 31,393,472 (GRCm39)	K370*	probably null	Het
Rpap2	G	A	5: 107,749,661 (GRCm39)	V62I	possibly damaging	Het
Scaper	A	T	9: 55,563,187 (GRCm39)		probably null	Het
Sos2	T	C	12: 69,661,380 (GRCm39)		probably benign	Het
Sptbn5	C	T	2: 119,897,927 (GRCm39)		probably null	Het
Sumo1	A	G	1: 59,683,668 (GRCm39)		probably benign	Het
Syne2	C	A	12: 76,036,027 (GRCm39)	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,612,822 (GRCm39)	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,955,988 (GRCm39)	M1140K	probably benign	Het
Usp29	G	A	7: 6,966,356 (GRCm39)		probably null	Het
Wdr7	C	T	18: 63,913,016 (GRCm39)	Q946*	probably null	Het
Ythdf1	T	C	2: 180,553,975 (GRCm39)	D46G	probably damaging	Het
Zfp217	T	C	2: 169,961,670 (GRCm39)	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,577,953 (GRCm39)	I256T	probably benign	Het

Other mutations in Degs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Degs1	APN	1	182,106,774 (GRCm39)	missense	probably benign	0.34
IGL01766:Degs1	APN	1	182,106,660 (GRCm39)	missense	probably damaging	1.00
IGL02237:Degs1	APN	1	182,107,253 (GRCm39)	missense	probably damaging	0.97
IGL02578:Degs1	APN	1	182,106,592 (GRCm39)	nonsense	probably null
IGL03200:Degs1	APN	1	182,107,256 (GRCm39)	start codon destroyed	probably null	1.00
R0087:Degs1	UTSW	1	182,106,875 (GRCm39)	missense	probably benign	0.00
R0126:Degs1	UTSW	1	182,107,257 (GRCm39)	start codon destroyed	probably null	0.85
R0299:Degs1	UTSW	1	182,106,836 (GRCm39)	missense	probably damaging	0.99
R4157:Degs1	UTSW	1	182,110,192 (GRCm39)	missense	possibly damaging	0.83
R4260:Degs1	UTSW	1	182,106,806 (GRCm39)	missense	probably benign
R4520:Degs1	UTSW	1	182,104,373 (GRCm39)	missense	possibly damaging	0.95
R4888:Degs1	UTSW	1	182,104,370 (GRCm39)	missense	probably damaging	0.98
R5366:Degs1	UTSW	1	182,106,927 (GRCm39)	missense	probably benign	0.08
R6574:Degs1	UTSW	1	182,106,638 (GRCm39)	missense	probably damaging	1.00
R7023:Degs1	UTSW	1	182,106,630 (GRCm39)	missense	probably damaging	0.99
R7164:Degs1	UTSW	1	182,106,690 (GRCm39)	missense	probably damaging	0.99
R7633:Degs1	UTSW	1	182,107,263 (GRCm39)	missense	probably damaging	1.00
R7894:Degs1	UTSW	1	182,104,417 (GRCm39)	missense	probably benign	0.00
R7894:Degs1	UTSW	1	182,104,416 (GRCm39)	missense	probably damaging	0.97
R7905:Degs1	UTSW	1	182,106,601 (GRCm39)	missense	possibly damaging	0.72
R8233:Degs1	UTSW	1	182,107,160 (GRCm39)	missense	probably benign	0.36
R8296:Degs1	UTSW	1	182,110,241 (GRCm39)	missense	probably benign	0.43
R8974:Degs1	UTSW	1	182,107,278 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- ACACCGAGATCTGAGTTGGC -3'
(R):5'- AGACGGTCTAAAGGGCCATG -3'

Sequencing Primer
(F):5'- CCGAGATCTGAGTTGGCAATCATG -3'
(R):5'- CCATGAGGGAAAGCACTTGCC -3'

Posted On

2015-09-25