Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Degs1'

589737

Institutional Source

Beutler Lab

Gene Symbol

Degs1

Ensembl Gene

ENSMUSG00000038633

Gene Name

delta 4-desaturase, sphingolipid 1

Synonyms

Des1, Mdes

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

182103529-182110366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 182107263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 35 (S35P)

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: S35P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: S35P

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 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dcxr	A	C	11: 120,617,279 (GRCm39)	L88R	probably benign	Het
Dedd	C	T	1: 171,166,478 (GRCm39)	P138L	probably benign	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,296,662 (GRCm39)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Nup155	C	G	15: 8,138,937 (GRCm39)	S3W	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trim59	T	A	3: 68,945,259 (GRCm39)	H27L	probably damaging	Het
Trpv2	G	A	11: 62,481,832 (GRCm39)		probably null	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het
Zfp954	A	T	7: 7,118,823 (GRCm39)	F240L	possibly 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
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
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'- ACATTCCAAACCAGCGGTTC -3'
(R):5'- AATATCTCATAAAGTCTGTCAGGGG -3'

Sequencing Primer
(F):5'- AAACCAGCGGTTCCACAGGG -3'
(R):5'- TCTGTCAGGGGGAGAATTATAAC -3'

Posted On

2019-10-24