Mutagenetix > Incidental Mutation

Incidental Mutation 'R0126:Degs1'

21342

Institutional Source

Beutler Lab

Gene Symbol

Degs1

Ensembl Gene

ENSMUSG00000038633

Gene Name

delta 4-desaturase, sphingolipid 1

Synonyms

Des1, Mdes

MMRRC Submission

038411-MU

Accession Numbers

Essential gene?

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

Stock #

R0126 (G1)

Quality Score

165

Status

Validated (trace)

Chromosome

Chromosomal Location

182103529-182110366 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 182107257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000119473 (fasta)

Gene Model

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

AlphaFold

O09005

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035295
AA Change: M37V

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: M37V

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 null
Transcript: ENSMUST00000133052
AA Change: M1V

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: M1V

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

0.3831

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.2%
20x: 81.8%

Validation Efficiency

98% (102/104)

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
Abca2	T	C	2: 25,333,742 (GRCm39)	L1730P	possibly damaging	Het
Adam9	T	C	8: 25,460,753 (GRCm39)	N577S	probably damaging	Het
Add1	T	C	5: 34,770,923 (GRCm39)	Y316H	probably benign	Het
Agpat3	T	C	10: 78,113,890 (GRCm39)	D266G	probably null	Het
Aldh3a2	C	A	11: 61,115,384 (GRCm39)	Q524H	probably benign	Het
Alox12b	A	C	11: 69,058,297 (GRCm39)	S550R	probably benign	Het
Ano4	T	A	10: 88,788,154 (GRCm39)	I753F	possibly damaging	Het
AW011738	T	A	4: 156,288,104 (GRCm39)		probably benign	Het
B4galt3	C	T	1: 171,103,738 (GRCm39)	T103M	probably damaging	Het
Cabs1	C	T	5: 88,128,054 (GRCm39)	T235I	probably damaging	Het
Casq2	A	G	3: 102,040,715 (GRCm39)	H272R	probably damaging	Het
Ccdc180	T	C	4: 45,912,866 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,584,031 (GRCm39)	M624L	probably benign	Het
Cdh5	A	C	8: 104,867,314 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,798,651 (GRCm39)		probably benign	Het
Cpne2	A	T	8: 95,281,561 (GRCm39)	I199F	probably damaging	Het
Crebbp	A	T	16: 3,901,927 (GRCm39)	F2399L	possibly damaging	Het
Defb36	T	C	2: 152,454,499 (GRCm39)	C53R	probably damaging	Het
Disp2	T	A	2: 118,620,819 (GRCm39)	F517Y	probably damaging	Het
Dnah5	A	G	15: 28,246,465 (GRCm39)	D601G	probably benign	Het
Dnpep	G	A	1: 75,289,182 (GRCm39)	Q310*	probably null	Het
Dsg1a	A	G	18: 20,473,935 (GRCm39)	T1003A	probably benign	Het
Fbrsl1	C	G	5: 110,543,906 (GRCm39)		probably benign	Het
Foxh1	A	T	15: 76,553,454 (GRCm39)	L116H	probably damaging	Het
Gigyf2	G	A	1: 87,339,597 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,736,565 (GRCm39)		probably benign	Het
Gp1ba	A	T	11: 70,531,859 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,945,218 (GRCm39)		probably benign	Het
Gucy2g	T	G	19: 55,229,598 (GRCm39)	D24A	probably benign	Het
Hirip3	A	G	7: 126,462,614 (GRCm39)	K190R	probably damaging	Het
Hmmr	T	C	11: 40,596,781 (GRCm39)	N717D	probably damaging	Het
Il12b	A	T	11: 44,301,045 (GRCm39)	Y187F	probably damaging	Het
Iqgap1	A	G	7: 80,388,070 (GRCm39)	I859T	probably benign	Het
Jmjd1c	T	C	10: 67,055,105 (GRCm39)	L175P	probably damaging	Het
Klc2	T	C	19: 5,162,774 (GRCm39)	M242V	possibly damaging	Het
Klf3	T	C	5: 64,979,446 (GRCm39)	M96T	probably benign	Het
Lrrc66	G	T	5: 73,764,431 (GRCm39)	H871N	probably benign	Het
Ltn1	A	T	16: 87,222,528 (GRCm39)	D168E	probably benign	Het
Mak	T	C	13: 41,186,072 (GRCm39)	D532G	probably damaging	Het
Marchf6	A	G	15: 31,462,151 (GRCm39)	M859T	probably benign	Het
Meak7	T	C	8: 120,489,089 (GRCm39)	D398G	possibly damaging	Het
Mlxipl	C	A	5: 135,161,177 (GRCm39)	N365K	probably damaging	Het
Mplkip	T	C	13: 17,870,337 (GRCm39)	S90P	possibly damaging	Het
Myo5c	A	T	9: 75,176,807 (GRCm39)	H584L	probably benign	Het
Myt1l	A	G	12: 29,901,719 (GRCm39)	T228A	possibly damaging	Het
Nxpe3	A	T	16: 55,686,592 (GRCm39)	Y139N	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51f2	A	G	7: 102,526,347 (GRCm39)	T7A	probably benign	Het
Or8k40	T	A	2: 86,584,981 (GRCm39)	I34L	probably damaging	Het
Pak6	C	T	2: 118,520,813 (GRCm39)	S268F	possibly damaging	Het
Parp10	G	A	15: 76,127,266 (GRCm39)	A57V	probably damaging	Het
Pik3r3	T	A	4: 116,113,465 (GRCm39)	D69E	probably damaging	Het
Polr2a	T	G	11: 69,638,251 (GRCm39)	K105T	probably damaging	Het
Prdm16	A	T	4: 154,413,295 (GRCm39)		probably benign	Het
Prepl	G	A	17: 85,390,670 (GRCm39)	T96I	probably benign	Het
Ret	C	T	6: 118,142,956 (GRCm39)		probably benign	Het
Rgl3	A	T	9: 21,887,108 (GRCm39)	D541E	probably benign	Het
Rpa1	A	C	11: 75,209,355 (GRCm39)	Y143D	probably benign	Het
Rps16	T	A	7: 28,050,508 (GRCm39)	L47Q	probably damaging	Het
Sbno2	A	T	10: 79,904,687 (GRCm39)		probably null	Het
Scube1	A	T	15: 83,505,264 (GRCm39)	N385K	probably damaging	Het
Shank2	A	G	7: 143,585,092 (GRCm39)	E31G	probably damaging	Het
Slc38a9	G	T	13: 112,865,791 (GRCm39)	C496F	possibly damaging	Het
Snap47	A	G	11: 59,328,813 (GRCm39)	V163A	probably damaging	Het
Sntg2	T	C	12: 30,251,260 (GRCm39)		probably benign	Het
Sp7	C	A	15: 102,266,895 (GRCm39)	V322F	probably damaging	Het
Spic	T	C	10: 88,511,924 (GRCm39)	K111E	probably damaging	Het
Sqor	T	C	2: 122,639,947 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,410 (GRCm39)	M385L	probably benign	Het
Synpo2	A	T	3: 122,873,511 (GRCm39)	S1211T	possibly damaging	Het
Sytl2	T	A	7: 90,045,797 (GRCm39)	V638E	probably damaging	Het
Taar1	T	A	10: 23,796,445 (GRCm39)	S48T	probably benign	Het
Tbx18	T	A	9: 87,611,706 (GRCm39)	D108V	possibly damaging	Het
Tdh	C	T	14: 63,735,042 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,881 (GRCm39)	L724Q	probably benign	Het
Tmem270	T	A	5: 134,931,642 (GRCm39)	Y100F	probably benign	Het
Trim65	G	C	11: 116,015,430 (GRCm39)		probably benign	Het
Trrap	A	T	5: 144,742,560 (GRCm39)	K1393*	probably null	Het
Ttc13	A	G	8: 125,410,030 (GRCm39)	V523A	probably damaging	Het
Utrn	T	A	10: 12,587,219 (GRCm39)	D939V	probably benign	Het
Vmn1r46	G	T	6: 89,953,935 (GRCm39)	M261I	probably benign	Het
Vwa5a	A	G	9: 38,649,103 (GRCm39)		probably null	Het
Zfp108	A	T	7: 23,960,149 (GRCm39)	T247S	probably benign	Het
Zfp366	A	T	13: 99,365,129 (GRCm39)	I97F	probably benign	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	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
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
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'- TTCCAAACCAGCGGTTCCACAG -3'
(R):5'- GTGCAGGCTTTGTCTAAACGTAAACG -3'

Sequencing Primer
(F):5'- CCAAAGGGGAAATTGTGGGAAATC -3'
(R):5'- ATCTCATAAAGTCTGTCAGGGG -3'

Posted On

2013-04-11