Mutagenetix > Incidental Mutation

Incidental Mutation 'R7023:Degs1'

545734

Institutional Source

Beutler Lab

Gene Symbol

Degs1

Ensembl Gene

ENSMUSG00000038633

Gene Name

delta 4-desaturase, sphingolipid 1

Synonyms

Des1, Mdes

MMRRC Submission

045124-MU

Accession Numbers

Essential gene?

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

Stock #

R7023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

182103529-182110366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 182106630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 210 (Y210N)

Ref Sequence

ENSEMBL: ENSMUSP00000119473 (fasta)

Gene Model

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

AlphaFold

O09005

Predicted Effect

probably damaging
Transcript: ENSMUST00000035295
AA Change: Y246N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: Y246N

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

probably damaging
Transcript: ENSMUST00000133052
AA Change: Y210N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: Y210N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,443 (GRCm39)	H372R	probably benign	Het
4933405O20Rik	T	C	7: 50,250,001 (GRCm39)	I345T	probably damaging	Het
4933427D14Rik	A	G	11: 72,069,229 (GRCm39)		probably null	Het
6430548M08Rik	T	C	8: 120,872,096 (GRCm39)	V8A	probably damaging	Het
Adam2	A	T	14: 66,280,505 (GRCm39)	D501E	probably benign	Het
Agbl3	T	C	6: 34,791,704 (GRCm39)	V602A	probably benign	Het
Akap12	T	C	10: 4,306,895 (GRCm39)	M1235T	probably benign	Het
Arid5a	G	A	1: 36,356,631 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,242,469 (GRCm39)	D1006E	probably benign	Het
AY074887	T	C	9: 54,858,149 (GRCm39)		probably benign	Het
Btbd9	T	A	17: 30,746,546 (GRCm39)	R93S	probably benign	Het
Cabp2	A	T	19: 4,132,658 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,601,439 (GRCm39)	D76G	probably null	Het
Cd177	A	G	7: 24,459,187 (GRCm39)	I74T	probably benign	Het
Chchd1	G	A	14: 20,753,310 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,083,763 (GRCm39)	R565G	possibly damaging	Het
Cpvl	T	A	6: 53,944,797 (GRCm39)	I80F	probably benign	Het
Csgalnact1	T	C	8: 68,811,081 (GRCm39)	T530A	probably benign	Het
Cybrd1	A	G	2: 70,968,922 (GRCm39)	D265G	probably benign	Het
Cyp2c69	A	T	19: 39,865,986 (GRCm39)	N202K	probably benign	Het
D1Pas1	A	G	1: 186,700,205 (GRCm39)	N45D	probably damaging	Het
Dclre1a	A	G	19: 56,528,638 (GRCm39)	V839A	probably damaging	Het
Doc2g	A	G	19: 4,054,778 (GRCm39)	S220G	probably benign	Het
Epb41l2	T	A	10: 25,388,875 (GRCm39)	L885Q	probably damaging	Het
Fabp1	A	T	6: 71,180,069 (GRCm39)		probably null	Het
Fat2	G	A	11: 55,201,328 (GRCm39)	S582L	probably benign	Het
Fcgbpl1	T	A	7: 27,839,463 (GRCm39)	C425*	probably null	Het
Fras1	A	G	5: 96,857,943 (GRCm39)	N2079S	probably benign	Het
Gdf6	T	C	4: 9,860,210 (GRCm39)	Y431H	probably damaging	Het
Gfra1	A	T	19: 58,442,764 (GRCm39)	L6Q	probably damaging	Het
Gm45861	T	G	8: 28,071,034 (GRCm39)	S1305A	unknown	Het
Gse1	T	C	8: 120,957,387 (GRCm39)		probably benign	Het
Kmt2e	A	G	5: 23,705,485 (GRCm39)	H1303R	possibly damaging	Het
Lck	T	C	4: 129,442,658 (GRCm39)	D499G	possibly damaging	Het
Lepr	A	T	4: 101,646,484 (GRCm39)	Y805F	probably damaging	Het
Lin7a	A	T	10: 107,218,489 (GRCm39)	Y11F	possibly damaging	Het
Lrrc43	A	G	5: 123,641,826 (GRCm39)	K559E	probably damaging	Het
Megf6	T	C	4: 154,338,602 (GRCm39)	L467P	possibly damaging	Het
Mprip	G	A	11: 59,628,215 (GRCm39)	G221R	probably damaging	Het
Myo5c	T	C	9: 75,208,738 (GRCm39)	V1683A	probably damaging	Het
Nbeal2	G	A	9: 110,467,686 (GRCm39)	R501W	probably damaging	Het
Ncf1	G	T	5: 134,254,116 (GRCm39)	A219E	possibly damaging	Het
Nckap1l	T	C	15: 103,384,493 (GRCm39)	I616T	probably benign	Het
Nlrp2	A	T	7: 5,331,228 (GRCm39)	C389*	probably null	Het
Nrg3	T	C	14: 38,098,333 (GRCm39)	E507G	probably damaging	Het
Or4p19	A	G	2: 88,242,759 (GRCm39)	L81P	probably damaging	Het
P4ha2	A	T	11: 54,022,072 (GRCm39)	T532S	probably benign	Het
Pappa	A	T	4: 65,269,955 (GRCm39)	H1623L	probably benign	Het
Paqr6	A	G	3: 88,273,353 (GRCm39)	Y115C	probably damaging	Het
Pcolce2	A	T	9: 95,560,521 (GRCm39)	Q190L	probably benign	Het
Poll	A	G	19: 45,547,277 (GRCm39)	I65T	probably benign	Het
Prmt9	T	C	8: 78,276,086 (GRCm39)		probably benign	Het
Prpf39	T	C	12: 65,100,074 (GRCm39)	V130A	possibly damaging	Het
Prpf6	A	G	2: 181,262,433 (GRCm39)	D144G	probably damaging	Het
Rgs6	T	A	12: 83,138,878 (GRCm39)		probably benign	Het
Rimbp2	A	G	5: 128,879,847 (GRCm39)		probably null	Het
Ripor2	A	G	13: 24,855,829 (GRCm39)	T90A	probably benign	Het
Rnf150	T	C	8: 83,590,706 (GRCm39)	F23S	probably damaging	Het
Rpp40	G	A	13: 36,082,889 (GRCm39)	R200W	possibly damaging	Het
Rtp3	G	A	9: 110,815,714 (GRCm39)	S217L	probably benign	Het
Sacs	A	C	14: 61,446,264 (GRCm39)	K2770T	probably benign	Het
Scn10a	A	T	9: 119,442,610 (GRCm39)	I1545N	probably damaging	Het
Scn2b	G	T	9: 45,037,438 (GRCm39)	V162L	probably damaging	Het
Sema6d	A	G	2: 124,506,831 (GRCm39)	T880A	probably damaging	Het
Slc36a4	A	G	9: 15,630,929 (GRCm39)	D16G	probably benign	Het
Slc4a8	T	A	15: 100,689,524 (GRCm39)	I378K	probably benign	Het
Smco2	T	A	6: 146,760,354 (GRCm39)	L70*	probably null	Het
Sptb	C	T	12: 76,671,862 (GRCm39)	V364I	probably damaging	Het
Susd4	A	G	1: 182,592,613 (GRCm39)	H3R	probably damaging	Het
Tbc1d16	T	C	11: 119,049,617 (GRCm39)	Q293R	probably damaging	Het
Tnfsf9	T	A	17: 57,414,317 (GRCm39)	M248K	possibly damaging	Het
Toporsl	A	G	4: 52,611,211 (GRCm39)	N368S	possibly damaging	Het
Trip11	T	C	12: 101,852,126 (GRCm39)	E361G	probably benign	Het
Trrap	T	A	5: 144,728,964 (GRCm39)	M626K	possibly damaging	Het
Ttn	A	T	2: 76,773,218 (GRCm39)	S2395T	probably damaging	Het
Ubqln3	T	C	7: 103,790,630 (GRCm39)	R487G	probably damaging	Het
Vdac1	A	G	11: 52,265,193 (GRCm39)	Y22C	probably damaging	Het
Vmn1r59	C	T	7: 5,457,477 (GRCm39)	M94I	probably benign	Het
Vmn2r10	G	T	5: 109,149,894 (GRCm39)	D383E	probably damaging	Het
Vmn2r115	T	C	17: 23,578,785 (GRCm39)	Y753H	probably damaging	Het
Vmn2r97	G	T	17: 19,134,663 (GRCm39)	C27F	probably damaging	Het
Wasf1	T	A	10: 40,812,471 (GRCm39)	V420E	unknown	Het
Zfp94	A	T	7: 24,002,821 (GRCm39)	L201Q	probably damaging	Het
Zgpat	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	2: 181,007,811 (GRCm39)		probably benign	Het
Zmym4	C	A	4: 126,762,593 (GRCm39)	R1410L	probably damaging	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
R4606:Degs1	UTSW	1	182,104,388 (GRCm39)	missense	probably damaging	0.99
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
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'- AGAAGACGCTGCATCCTTAGC -3'
(R):5'- GTCTGGGTTATCCTTCAGCC -3'

Sequencing Primer
(F):5'- CTGTAGACAAAGGATCTATGTCCTCC -3'
(R):5'- CTGGAAATCATCAATACTGTGATCC -3'

Posted On

2019-05-13