Mutagenetix > Incidental Mutation

Incidental Mutation 'R0655:Scd4'

62534

Institutional Source

Beutler Lab

Gene Symbol

Scd4

Ensembl Gene

ENSMUSG00000050195

Gene Name

stearoyl-coenzyme A desaturase 4

Synonyms

MMRRC Submission

038840-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R0655 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

44333092-44346743 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44338968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 161 (H161R)

Ref Sequence

ENSEMBL: ENSMUSP00000059860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058856]

AlphaFold

Q6T707

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058856
AA Change: H161R

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: H161R

Domain	Start	End	E-Value	Type
transmembrane domain	65	87	N/A	INTRINSIC
Pfam:FA_desaturase	91	311	7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133314

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	C	17: 35,957,845	I757M	probably benign	Het
Atg16l1	T	A	1: 87,766,829	I76N	probably damaging	Het
Baz1b	T	A	5: 135,242,430	I1289N	probably benign	Het
Bcl2l15	T	A	3: 103,832,969		probably null	Het
Btbd11	A	G	10: 85,645,526	T931A	probably damaging	Het
Cbl	G	T	9: 44,158,752	T566K	probably damaging	Het
Cbwd1	T	C	19: 24,953,320	M122V	possibly damaging	Het
Cd96	T	C	16: 46,099,119	K180E	probably benign	Het
Cpxm2	G	A	7: 132,054,820	T571I	possibly damaging	Het
Cyp2a12	A	T	7: 27,036,621	Y485F	probably benign	Het
Cyp4f17	T	A	17: 32,524,897	Y350N	possibly damaging	Het
Dstn	T	A	2: 143,938,422	I14N	probably damaging	Het
Eea1	A	G	10: 95,995,598	S184G	probably benign	Het
Eif1a	G	T	18: 46,608,063	G122C	probably damaging	Het
Esf1	T	A	2: 140,148,879	T562S	probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Fig4	T	C	10: 41,285,677	N30S	probably damaging	Het
Gria2	C	A	3: 80,732,070	E212*	probably null	Het
Gsdmc2	C	T	15: 63,827,773	A269T	probably benign	Het
Herc4	T	C	10: 63,273,571	V195A	probably benign	Het
Hivep1	T	C	13: 42,167,585	S2123P	probably damaging	Het
Hspa4	T	C	11: 53,269,692	E519G	probably benign	Het
Htr2b	A	G	1: 86,110,843	S14P	probably benign	Het
Ifit1	T	C	19: 34,647,647	V61A	probably damaging	Het
Ifitm1	C	A	7: 140,969,536	F77L	probably benign	Het
Matn2	T	C	15: 34,345,200	S118P	probably benign	Het
Mtmr3	C	A	11: 4,488,610	D615Y	probably damaging	Het
Mtss1	C	A	15: 59,081,502	C9F	probably damaging	Het
Muc5b	A	T	7: 141,863,942	I3542F	probably benign	Het
Nwd2	T	C	5: 63,791,585	S167P	possibly damaging	Het
Olfr394	T	C	11: 73,887,805	D189G	possibly damaging	Het
Olfr694	A	T	7: 106,689,425	F102Y	probably damaging	Het
Olfr921	C	T	9: 38,775,554	Q100*	probably null	Het
Oscp1	T	C	4: 126,058,733	L18P	probably damaging	Het
Pax5	A	G	4: 44,537,462	S297P	probably damaging	Het
Phldb3	A	T	7: 24,624,372	D476V	probably benign	Het
Phlpp2	A	T	8: 109,895,587	I154L	probably benign	Het
Prx	T	A	7: 27,517,421	V449E	probably damaging	Het
Psd3	A	G	8: 67,963,689	S519P	probably benign	Het
Rnf138	T	G	18: 21,010,783	V128G	probably benign	Het
Safb	T	A	17: 56,597,803	S209T	probably benign	Het
Sbno1	C	A	5: 124,376,149	V1327L	possibly damaging	Het
Scarb1	A	G	5: 125,300,440	V176A	probably damaging	Het
Selenoo	T	A	15: 89,095,655	H335Q	probably damaging	Het
Slfn8	A	G	11: 83,003,821	F664S	probably benign	Het
Spef2	T	C	15: 9,626,131	I1116M	possibly damaging	Het
Taf2	G	A	15: 55,038,294	R835W	probably damaging	Het
Tdrd9	A	G	12: 112,040,465	E921G	probably damaging	Het
Tectb	G	A	19: 55,189,870	G234S	possibly damaging	Het
Tmc1	C	T	19: 20,799,176	M606I	probably damaging	Het
Tmed10	T	A	12: 85,343,517	I88F	probably damaging	Het
Tnfrsf11a	G	A	1: 105,808,155	V31I	unknown	Het
Trp53inp2	G	T	2: 155,386,168	G98*	probably null	Het
Tssc4	A	G	7: 143,070,045	D30G	probably damaging	Het
Uaca	T	C	9: 60,872,029	Y1233H	probably benign	Het
Unc13c	G	A	9: 73,930,953	T872I	probably damaging	Het
Unc80	A	G	1: 66,503,781	H398R	probably damaging	Het
Vmn1r64	G	A	7: 5,884,208	T112I	probably benign	Het
Vmn1r85	A	G	7: 13,084,723	Y165H	probably damaging	Het
Vmn2r72	A	T	7: 85,738,111	C748*	probably null	Het
Wdr17	A	G	8: 54,649,198	W929R	probably damaging	Het
Yeats2	A	T	16: 20,193,824	K591*	probably null	Het
Zbtb9	T	A	17: 26,974,100	S160T	probably damaging	Het
Znfx1	T	A	2: 167,056,907	R32S	probably damaging	Het

Other mutations in Scd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Scd4	APN	19	44344747	missense	possibly damaging	0.54
IGL02824:Scd4	APN	19	44341259	missense	probably damaging	1.00
crisco	UTSW	19	44339071	missense	probably benign	0.24
IGL03098:Scd4	UTSW	19	44333492	start codon destroyed	possibly damaging	0.92
R0576:Scd4	UTSW	19	44341246	missense	probably benign	0.00
R1792:Scd4	UTSW	19	44337574	nonsense	probably null
R1925:Scd4	UTSW	19	44341384	missense	probably damaging	0.99
R1995:Scd4	UTSW	19	44334178	missense	possibly damaging	0.93
R5018:Scd4	UTSW	19	44337609	missense	probably benign	0.09
R5815:Scd4	UTSW	19	44337564	missense	probably damaging	1.00
R6036:Scd4	UTSW	19	44344792	missense	probably damaging	0.98
R6036:Scd4	UTSW	19	44344792	missense	probably damaging	0.98
R6264:Scd4	UTSW	19	44338959	nonsense	probably null
R6946:Scd4	UTSW	19	44333514	missense	probably null	0.82
R7661:Scd4	UTSW	19	44339071	missense	probably benign	0.24
R7957:Scd4	UTSW	19	44341248	missense	probably benign	0.00
R8112:Scd4	UTSW	19	44337506	missense	probably benign	0.00
R8226:Scd4	UTSW	19	44334133	missense	probably benign	0.00
R9752:Scd4	UTSW	19	44334036	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAGCATGAGTACCATTCCCTAACC -3'
(R):5'- AAAAGGACCCCGTTGCTTCTCC -3'

Sequencing Primer
(F):5'- TCAACAAGGACTCCTTTGGG -3'
(R):5'- GTCCATGACAGTTCTAGGTCAATG -3'

Posted On

2013-07-30