Mutagenetix > Incidental Mutation

Incidental Mutation 'R0014:Degs1l'

201317

Institutional Source

Beutler Lab

Gene Symbol

Degs1l

Ensembl Gene

ENSMUSG00000038768

Gene Name

delta 4-desaturase, sphingolipid 1 like

Synonyms

9130409I23Rik

MMRRC Submission

038309-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R0014 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

180878802-180888232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180882696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 153 (F153L)

Ref Sequence

ENSEMBL: ENSMUSP00000042889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036819]

AlphaFold

Q3TS87

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036819
AA Change: F153L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042889
Gene: ENSMUSG00000038768
AA Change: F153L

Domain	Start	End	E-Value	Type
Lipid_DES	5	43	6.12e-15	SMART
Pfam:FA_desaturase	64	295	7.1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195319

Meta Mutation Damage Score

0.2275

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,791,581 (GRCm39)	D92V	probably damaging	Het
Ankrd52	C	A	10: 128,222,321 (GRCm39)	T583K	probably benign	Het
C3ar1	C	T	6: 122,827,810 (GRCm39)	V136M	probably damaging	Het
Capg	A	G	6: 72,538,026 (GRCm39)	E304G	possibly damaging	Het
Ccdc125	A	C	13: 100,820,846 (GRCm39)	N189T	possibly damaging	Het
Ccr5	T	C	9: 123,924,658 (GRCm39)	F87S	probably damaging	Het
Cd2ap	T	C	17: 43,118,819 (GRCm39)	S540G	probably benign	Het
Cdt1	C	T	8: 123,299,305 (GRCm39)	T529M	probably benign	Het
Cfap126	A	G	1: 170,953,353 (GRCm39)	D49G	possibly damaging	Het
Cngb3	T	C	4: 19,396,685 (GRCm39)	I346T	probably benign	Het
Dgkd	A	G	1: 87,809,603 (GRCm39)	D97G	probably damaging	Het
Dgkg	A	T	16: 22,384,114 (GRCm39)		probably null	Het
Dmbx1	G	T	4: 115,775,221 (GRCm39)	T358K	probably damaging	Het
Dnai3	T	C	3: 145,787,178 (GRCm39)		probably null	Het
Epc2	A	T	2: 49,412,537 (GRCm39)	K172*	probably null	Het
F2rl2	A	T	13: 95,837,417 (GRCm39)	N154I	probably damaging	Het
Fyttd1	G	A	16: 32,725,924 (GRCm39)	R175Q	probably damaging	Het
Gbp5	T	A	3: 142,212,496 (GRCm39)	C395S	probably damaging	Het
Gen1	T	C	12: 11,291,642 (GRCm39)	N716D	probably benign	Het
Helz2	A	G	2: 180,882,304 (GRCm39)	L163P	probably damaging	Het
Hmox2	T	A	16: 4,582,897 (GRCm39)	L210Q	probably damaging	Het
Klhl28	T	C	12: 65,004,076 (GRCm39)	T146A	probably benign	Het
Lrrk2	T	C	15: 91,686,248 (GRCm39)		probably benign	Het
Man2c1	T	A	9: 57,046,985 (GRCm39)	M580K	probably benign	Het
Neb	G	A	2: 52,177,168 (GRCm39)	A1391V	probably damaging	Het
Nyap2	T	C	1: 81,219,666 (GRCm39)	S563P	probably damaging	Het
Or2at4	T	C	7: 99,385,256 (GRCm39)	V302A	probably damaging	Het
Or4k51	A	G	2: 111,585,119 (GRCm39)	D175G	probably damaging	Het
Or55b3	A	G	7: 102,126,684 (GRCm39)	I131T	probably damaging	Het
P2rx5	T	A	11: 73,057,888 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,730,465 (GRCm39)		probably benign	Het
Pex1	G	A	5: 3,676,141 (GRCm39)		probably benign	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Psma8	A	G	18: 14,859,587 (GRCm39)	I86V	possibly damaging	Het
Ptpdc1	G	T	13: 48,740,395 (GRCm39)	Y345*	probably null	Het
Rcbtb1	G	T	14: 59,472,691 (GRCm39)	K493N	probably benign	Het
Rexo2	A	T	9: 48,385,747 (GRCm39)	S126T	probably benign	Het
Rorc	T	A	3: 94,284,920 (GRCm39)		probably benign	Het
Slc7a2	T	C	8: 41,364,065 (GRCm39)	L426P	probably damaging	Het
Syde1	T	C	10: 78,425,868 (GRCm39)	T100A	probably benign	Het
Tbc1d20	A	T	2: 152,153,701 (GRCm39)	Q342L	probably benign	Het
Thbs1	A	G	2: 117,943,831 (GRCm39)	T150A	possibly damaging	Het
Trpm1	A	G	7: 63,897,970 (GRCm39)	H317R	probably damaging	Het
Tut1	T	A	19: 8,939,811 (GRCm39)	L265Q	possibly damaging	Het
Wdfy4	A	G	14: 32,829,130 (GRCm39)	F1029L	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp458	A	G	13: 67,406,154 (GRCm39)	V95A	possibly damaging	Het
Zscan18	A	T	7: 12,503,344 (GRCm39)	F738L	possibly damaging	Het

Other mutations in Degs1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02552:Degs1l	APN	1	180,882,463 (GRCm39)	missense	possibly damaging	0.82
IGL03345:Degs1l	APN	1	180,882,937 (GRCm39)	missense	probably benign	0.43
R0014:Degs1l	UTSW	1	180,882,696 (GRCm39)	missense	possibly damaging	0.95
R0522:Degs1l	UTSW	1	180,887,312 (GRCm39)	missense	probably damaging	0.98
R0737:Degs1l	UTSW	1	180,882,944 (GRCm39)	missense	probably benign	0.15
R1710:Degs1l	UTSW	1	180,878,884 (GRCm39)	start codon destroyed	probably null	0.98
R1809:Degs1l	UTSW	1	180,887,252 (GRCm39)	missense	probably damaging	0.98
R2029:Degs1l	UTSW	1	180,882,496 (GRCm39)	missense	probably benign	0.04
R5814:Degs1l	UTSW	1	180,882,663 (GRCm39)	missense	probably damaging	1.00
R7445:Degs1l	UTSW	1	180,882,577 (GRCm39)	missense	possibly damaging	0.92
R8139:Degs1l	UTSW	1	180,882,358 (GRCm39)	missense	probably damaging	0.98
R8550:Degs1l	UTSW	1	180,887,324 (GRCm39)	missense	probably damaging	1.00
R9563:Degs1l	UTSW	1	180,882,810 (GRCm39)	missense	possibly damaging	0.88
R9564:Degs1l	UTSW	1	180,882,810 (GRCm39)	missense	possibly damaging	0.88
Z1177:Degs1l	UTSW	1	180,887,336 (GRCm39)	missense	probably benign	0.01
Z1177:Degs1l	UTSW	1	180,882,982 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAACCGCTGGTTTGGAATATTTGC -3'
(R):5'- GTGATAGCCCACATTGAAGGTGAGC -3'

Sequencing Primer
(F):5'- GGTTTGGAATATTTGCTAACCTCC -3'
(R):5'- GCCACTTATTGGGTGCAAAC -3'

Posted On

2014-06-02