Mutagenetix > Incidental Mutation

Incidental Mutation 'R9752:Scd4'

732610

Institutional Source

Beutler Lab

Gene Symbol

Scd4

Ensembl Gene

ENSMUSG00000050195

Gene Name

stearoyl-coenzyme A desaturase 4

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R9752 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44333092-44346743 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44334036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 23 (S23P)

Ref Sequence

ENSEMBL: ENSMUSP00000059860 (fasta)

Gene Model

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

AlphaFold

Q6T707

Predicted Effect

probably benign
Transcript: ENSMUST00000058856
AA Change: S23P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: S23P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	A	6: 149,326,570	N371K	probably benign	Het
Ano2	C	T	6: 125,863,536	T390I	probably damaging	Het
Cc2d2b	T	C	19: 40,792,827	V772A	probably damaging	Het
Cd109	A	G	9: 78,707,552	I1294V	probably benign	Het
Cic	A	G	7: 25,271,978	E378G	probably damaging	Het
Clhc1	C	T	11: 29,557,778	P175L	probably benign	Het
Clip1	T	C	5: 123,621,946	E783G	probably damaging	Het
Cnot1	A	G	8: 95,761,391	Y546H	probably damaging	Het
Cog7	C	A	7: 121,981,416		probably null	Het
Cr2	T	C	1: 195,141,267	T1008A	probably benign	Het
Diaph1	T	C	18: 37,903,071	T196A	unknown	Het
Flg2	A	T	3: 93,201,160	D165V	probably damaging	Het
Fstl1	T	G	16: 37,829,172	N249K	probably damaging	Het
Gatad2a	A	G	8: 69,912,189	V515A	probably benign	Het
Gbp2b	A	T	3: 142,608,156	D399V	probably benign	Het
Gna14	G	A	19: 16,609,417	V319I	probably benign	Het
Grip1	A	G	10: 120,035,351	D661G	possibly damaging	Het
Gtf3c4	C	A	2: 28,834,114	L535F	probably damaging	Het
Haus8	A	C	8: 71,263,087	S36A	probably damaging	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hectd4	C	T	5: 121,334,352	A2717V	possibly damaging	Het
Hsf5	C	T	11: 87,622,883	T258M	probably benign	Het
Ifi209	A	T	1: 173,644,669	I359F	probably damaging	Het
Ighmbp2	A	G	19: 3,274,360	V302A	probably benign	Het
Iqgap3	C	A	3: 88,108,869	F986L	probably damaging	Het
Itgav	T	A	2: 83,770,107		probably null	Het
Kcp	A	T	6: 29,497,755	D502E	probably damaging	Het
Kif15	T	C	9: 122,995,825		probably null	Het
Lipo2	C	G	19: 33,745,821	K189N	possibly damaging	Het
Lrch4	T	A	5: 137,637,956	S390T	probably benign	Het
Mast2	G	T	4: 116,322,311	H389N	probably benign	Het
Med13	A	G	11: 86,283,321	Y1784H	possibly damaging	Het
Micu3	A	G	8: 40,380,710	K462E	possibly damaging	Het
Mrps10	T	C	17: 47,372,647		probably null	Het
Msh6	T	C	17: 87,986,535	L906P	probably damaging	Het
Nphp4	A	G	4: 152,537,280	E531G	probably benign	Het
Nrp2	A	T	1: 62,812,567	Y825F	probably benign	Het
Ntn1	C	T	11: 68,385,886	V79M	possibly damaging	Het
Nxnl2	A	G	13: 51,171,471	D50G	probably damaging	Het
Olfr1	T	A	11: 73,395,653	Y123F	possibly damaging	Het
Olfr1395	T	C	11: 49,148,854	M199T	probably benign	Het
Olfr584	T	A	7: 103,086,462	C310S	probably benign	Het
Olfr651	A	T	7: 104,553,323	I135F	possibly damaging	Het
Olfr818	T	C	10: 129,945,121	R314G	probably benign	Het
Olfr872	G	A	9: 20,259,908	V23I	probably benign	Het
Ppp1r42	A	G	1: 10,003,449		probably benign	Het
Ppp4r3a	A	T	12: 101,042,504	N692K	probably benign	Het
Prr11	T	C	11: 87,103,590	T77A	possibly damaging	Het
Rrn3	A	G	16: 13,813,231	I644V	probably benign	Het
Sdccag3	T	C	2: 26,386,978	N247D	probably benign	Het
Slc26a2	T	A	18: 61,201,938	S148C	probably benign	Het
Slc7a8	T	C	14: 54,758,474	E157G	probably benign	Het
Spi1	A	G	2: 91,113,321	H70R	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tlr4	A	G	4: 66,839,675	N235S	probably benign	Het
Trpc6	C	A	9: 8,643,640	S475R	probably benign	Het
Usp34	C	T	11: 23,459,182	P2674L	probably benign	Het
Usp48	G	A	4: 137,613,826	G379D	probably damaging	Het
Vkorc1l1	T	A	5: 129,982,237	C97*	probably null	Het
Wfikkn2	T	C	11: 94,238,385	E310G	probably benign	Het
Zfp266	T	A	9: 20,500,200	N227I	probably benign	Het
Zfp335	C	T	2: 164,907,427		probably null	Het
Zfp677	T	A	17: 21,398,249	C523S	probably damaging	Het
Zrsr2	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	X: 163,936,754		probably benign	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
R0655:Scd4	UTSW	19	44338968	missense	possibly damaging	0.52
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

Predicted Primers

PCR Primer
(F):5'- CAACACATTCTAGGTAGTTTCTGGG -3'
(R):5'- AACCAGTGTGATCCCGTACAG -3'

Sequencing Primer
(F):5'- GGGAAGTTTTCTCTGCTTCATCTAGC -3'
(R):5'- TACAGGGCTCCCACGTG -3'

Posted On

2022-11-14