Mutagenetix > Incidental Mutation

Incidental Mutation 'R5366:Degs1'

429318

Institutional Source

Beutler Lab

Gene Symbol

Degs1

Ensembl Gene

ENSMUSG00000038633

Gene Name

delta 4-desaturase, sphingolipid 1

Synonyms

Des1, Mdes

MMRRC Submission

042944-MU

Accession Numbers

Essential gene?

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

Stock #

R5366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182103529-182110366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 182106927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 111 (D111Y)

Ref Sequence

ENSEMBL: ENSMUSP00000119473 (fasta)

Gene Model

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

AlphaFold

O09005

Predicted Effect

probably benign
Transcript: ENSMUST00000035295
AA Change: D147Y

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: D147Y

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
AA Change: D111Y

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: D111Y

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

0.1189

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

100% (77/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,831,665 (GRCm39)	N1229S	possibly damaging	Het
Adgre1	G	A	17: 57,709,817 (GRCm39)	C158Y	probably benign	Het
Ahnak	T	A	19: 8,994,099 (GRCm39)	S5128T	possibly damaging	Het
Ankrd36	T	A	11: 5,542,841 (GRCm39)	C322*	probably null	Het
Ano1	T	A	7: 144,207,946 (GRCm39)	T113S	possibly damaging	Het
Apeh	A	T	9: 107,969,005 (GRCm39)	S321T	probably benign	Het
Atg4d	T	A	9: 21,179,948 (GRCm39)	V273D	probably damaging	Het
Cacna2d4	A	G	6: 119,251,279 (GRCm39)	D489G	probably damaging	Het
Cd47	T	C	16: 49,716,736 (GRCm39)	F256L	probably damaging	Het
Cd84	A	T	1: 171,700,872 (GRCm39)	D211V	probably damaging	Het
Cfap46	A	G	7: 139,230,802 (GRCm39)	L942P	probably damaging	Het
Cfh	A	C	1: 140,063,973 (GRCm39)	C434W	probably damaging	Het
Chst2	T	C	9: 95,287,518 (GRCm39)	D276G	probably damaging	Het
Ctsq	T	C	13: 61,184,913 (GRCm39)	T258A	probably benign	Het
Dhps	T	A	8: 85,801,413 (GRCm39)	D313E	probably damaging	Het
Dipk1c	T	A	18: 84,748,720 (GRCm39)	L106Q	probably damaging	Het
Dock9	A	G	14: 121,815,615 (GRCm39)	C1645R	probably damaging	Het
Efcab7	A	C	4: 99,761,931 (GRCm39)	D407A	possibly damaging	Het
Eif3a	G	T	19: 60,767,971 (GRCm39)	T189N	probably benign	Het
Ep300	T	A	15: 81,500,301 (GRCm39)	L57M	probably benign	Het
Exoc6b	T	A	6: 84,867,513 (GRCm39)	I300L	probably benign	Het
Fzd8	T	C	18: 9,213,880 (GRCm39)	S321P	probably damaging	Het
Garre1	A	T	7: 33,941,713 (GRCm39)	M657K	possibly damaging	Het
Gm9920	T	A	15: 54,975,705 (GRCm39)		probably benign	Het
Gucy2c	A	G	6: 136,697,739 (GRCm39)	I668T	probably damaging	Het
Irgc	C	T	7: 24,132,851 (GRCm39)		probably benign	Het
Jsrp1	G	T	10: 80,646,030 (GRCm39)	S143*	probably null	Het
Kctd4	T	C	14: 76,200,259 (GRCm39)	Y77H	probably damaging	Het
Klhdc1	T	A	12: 69,329,924 (GRCm39)	I351N	probably damaging	Het
Klra17	C	T	6: 129,851,858 (GRCm39)	E5K	possibly damaging	Het
Mapk8	A	T	14: 33,112,686 (GRCm39)	V211E	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrc1	T	C	2: 14,326,725 (GRCm39)	Y1208H	probably benign	Het
Mrps16	A	T	14: 20,441,523 (GRCm39)	S94T	probably benign	Het
Muc5ac	A	G	7: 141,361,287 (GRCm39)	T1533A	probably benign	Het
Myh10	A	T	11: 68,651,518 (GRCm39)	D287V	probably damaging	Het
Obscn	T	C	11: 58,971,086 (GRCm39)	T2476A	probably damaging	Het
Olfm2	T	A	9: 20,579,708 (GRCm39)	T356S	probably benign	Het
Or4f60	T	C	2: 111,902,823 (GRCm39)	Y35C	possibly damaging	Het
P2rx2	T	A	5: 110,489,694 (GRCm39)	N108I	probably damaging	Het
Pbx4	A	T	8: 70,322,820 (GRCm39)	T309S	probably benign	Het
Phyhip	C	A	14: 70,704,295 (GRCm39)	H171Q	probably benign	Het
Pou4f3	A	G	18: 42,528,819 (GRCm39)	E254G	probably damaging	Het
Pxdn	C	A	12: 30,052,899 (GRCm39)	H845Q	probably damaging	Het
Rgcc	T	C	14: 79,529,123 (GRCm39)	T111A	probably benign	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sgsm1	C	A	5: 113,398,905 (GRCm39)	E722D	possibly damaging	Het
Soat1	A	T	1: 156,272,181 (GRCm39)	D101E	probably benign	Het
Spag5	T	A	11: 78,211,152 (GRCm39)		probably null	Het
Spata31	A	T	13: 65,068,273 (GRCm39)	E140D	probably damaging	Het
Srrm2	T	A	17: 24,037,678 (GRCm39)	S1537T	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tbc1d4	G	T	14: 101,845,412 (GRCm39)	T162K	possibly damaging	Het
Tmem163	A	C	1: 127,428,042 (GRCm39)		probably benign	Het
Tmem43	T	C	6: 91,455,240 (GRCm39)	V72A	probably benign	Het
Tmprss11c	G	A	5: 86,429,993 (GRCm39)	T24I	possibly damaging	Het
Trerf1	A	T	17: 47,626,116 (GRCm39)		noncoding transcript	Het
Trim44	A	G	2: 102,230,476 (GRCm39)	L185P	probably damaging	Het
Tspyl1	A	G	10: 34,158,341 (GRCm39)	D22G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyro3	G	A	2: 119,635,312 (GRCm39)	R201Q	probably damaging	Het
Ubxn2a	T	A	12: 4,930,741 (GRCm39)	K206N	probably benign	Het
Usp17lb	G	T	7: 104,489,615 (GRCm39)	H436Q	possibly damaging	Het
Vps9d1	A	G	8: 123,971,853 (GRCm39)	I584T	possibly damaging	Het
Vrk1	T	A	12: 106,022,078 (GRCm39)	M131K	possibly damaging	Het
Wdr87-ps	A	C	7: 29,232,964 (GRCm39)		noncoding transcript	Het
Zfp827	A	T	8: 79,912,333 (GRCm39)	K986N	possibly damaging	Het
Zswim4	A	G	8: 84,939,419 (GRCm39)	M821T	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
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
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'- GTGGCTGCCAACATGTAGAC -3'
(R):5'- ACTCCATGACTCTGGCTATCCATG -3'

Sequencing Primer
(F):5'- TGGCTGCCAACATGTAGACTAAAG -3'
(R):5'- ATGACTCTGGCTATCCATGAGATTTC -3'

Posted On

2016-09-06