Mutagenetix > Incidental Mutation

Incidental Mutation 'R1819:Cers4'

204706

Institutional Source

Beutler Lab

Gene Symbol

Cers4

Ensembl Gene

ENSMUSG00000008206

Gene Name

ceramide synthase 4

Synonyms

2900019C14Rik, CerS4, Lass4, Trh1

MMRRC Submission

039847-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4542863-4579603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4571232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 267 (M267K)

Ref Sequence

ENSEMBL: ENSMUSP00000008350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008350] [ENSMUST00000176130]

AlphaFold

Q9D6J1

Predicted Effect

probably benign
Transcript: ENSMUST00000008350
AA Change: M267K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000008350
Gene: ENSMUSG00000008206
AA Change: M267K

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
HOX	75	132	2.42e-2	SMART
TLC	131	332	2.74e-82	SMART
low complexity region	342	357	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175781

SMART Domains

Protein: ENSMUSP00000138819
Gene: ENSMUSG00000008206

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
HOX	75	132	2.42e-2	SMART
TLC	131	332	2.74e-82	SMART
low complexity region	342	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176130

SMART Domains

Protein: ENSMUSP00000135652
Gene: ENSMUSG00000008206

Domain	Start	End	E-Value	Type
transmembrane domain	39	56	N/A	INTRINSIC
HOX	75	132	1.2e-4	SMART
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177010

SMART Domains

Protein: ENSMUSP00000135763
Gene: ENSMUSG00000008206

Domain	Start	End	E-Value	Type
Blast:TLC	4	58	7e-9	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

100% (91/91)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered lipid composition of the sebum and hair follicle dystrophy that results in a progressive form of alopecia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,871,882 (GRCm39)		probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Acad11	G	A	9: 103,991,738 (GRCm39)		probably null	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afdn	A	G	17: 14,071,110 (GRCm39)	T783A	probably damaging	Het
Akap13	T	A	7: 75,258,453 (GRCm39)	M359K	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atl1	T	C	12: 70,010,074 (GRCm39)	S547P	probably benign	Het
Bace1	A	T	9: 45,768,460 (GRCm39)	T252S	possibly damaging	Het
BC034090	A	G	1: 155,101,575 (GRCm39)	S230P	possibly damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Capn8	T	A	1: 182,426,391 (GRCm39)	I242N	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,926,195 (GRCm39)	E1135G	possibly damaging	Het
Ccdc181	C	T	1: 164,110,047 (GRCm39)	Q385*	probably null	Het
Cdh10	G	T	15: 18,992,051 (GRCm39)	G437*	probably null	Het
Ceacam1	T	A	7: 25,163,285 (GRCm39)	Q316L	possibly damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Csmd3	T	C	15: 47,617,131 (GRCm39)	D1930G	possibly damaging	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dus2	T	A	8: 106,778,480 (GRCm39)	W377R	probably damaging	Het
E330034G19Rik	A	G	14: 24,348,081 (GRCm39)	D111G	probably damaging	Het
Erich4	C	T	7: 25,314,715 (GRCm39)	R66Q	possibly damaging	Het
Fcgbp	G	T	7: 27,784,708 (GRCm39)	R256L	probably benign	Het
Fdxr	A	T	11: 115,166,930 (GRCm39)	F53Y	probably damaging	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Foxo3	A	T	10: 42,073,607 (GRCm39)	D84E	probably benign	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gli3	C	T	13: 15,900,377 (GRCm39)	Q1255*	probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Gpr171	T	C	3: 59,005,341 (GRCm39)	I145V	probably benign	Het
Gpr68	T	A	12: 100,844,662 (GRCm39)	H294L	possibly damaging	Het
Gys2	T	C	6: 142,406,912 (GRCm39)	E148G	probably damaging	Het
Heatr5b	T	C	17: 79,098,940 (GRCm39)	D1320G	probably damaging	Het
Ifnlr1	G	T	4: 135,413,834 (GRCm39)		probably benign	Het
Ift88	G	A	14: 57,692,976 (GRCm39)	E392K	probably damaging	Het
Igsf9b	T	A	9: 27,222,889 (GRCm39)	S97T	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kcnj11	C	T	7: 45,748,580 (GRCm39)	G248S	probably benign	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Lilrb4a	A	G	10: 51,372,124 (GRCm39)	Y205C	probably damaging	Het
Lima1	T	A	15: 99,717,817 (GRCm39)	H63L	probably benign	Het
Lonrf3	A	G	X: 35,622,361 (GRCm39)	I687V	probably damaging	Het
Lrba	A	G	3: 86,449,941 (GRCm39)	T2099A	possibly damaging	Het
Morn5	C	T	2: 35,942,987 (GRCm39)	T29M	probably damaging	Het
Neurl1b	G	A	17: 26,657,674 (GRCm39)	R22H	probably benign	Het
Nr2e3	T	C	9: 59,850,720 (GRCm39)	I380V	probably damaging	Het
Oas1c	G	A	5: 120,946,800 (GRCm39)	A10V	possibly damaging	Het
Or1e35	T	C	11: 73,797,505 (GRCm39)	E271G	probably benign	Het
Or52e8	C	T	7: 104,624,605 (GRCm39)	V196I	probably benign	Het
P3h3	T	C	6: 124,831,895 (GRCm39)	T297A	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Plec	C	T	15: 76,064,106 (GRCm39)	R2056Q	probably damaging	Het
Plxna2	T	A	1: 194,472,494 (GRCm39)	N1079K	probably benign	Het
Prr12	G	C	7: 44,698,121 (GRCm39)		probably benign	Het
Psip1	A	G	4: 83,376,400 (GRCm39)	S480P	probably benign	Het
Ptpre	A	G	7: 135,270,722 (GRCm39)		probably benign	Het
Pvalb	A	C	15: 78,086,784 (GRCm39)	V44G	probably damaging	Het
Rab3c	T	G	13: 110,220,669 (GRCm39)	Q164P	possibly damaging	Het
Rubcn	T	C	16: 32,647,284 (GRCm39)	K703R	possibly damaging	Het
Setd7	T	G	3: 51,450,060 (GRCm39)	H122P	probably benign	Het
Slc26a8	A	T	17: 28,903,808 (GRCm39)	F19I	probably benign	Het
Slc6a14	A	G	X: 21,607,286 (GRCm39)	D625G	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Syngr3	A	G	17: 24,906,696 (GRCm39)	F40L	possibly damaging	Het
Syt8	G	A	7: 141,991,971 (GRCm39)	G21R	possibly damaging	Het
Tagln	A	G	9: 45,842,138 (GRCm39)	F152L	probably benign	Het
Tcf12	G	A	9: 72,016,999 (GRCm39)	T36M	probably damaging	Het
Tdrd6	C	T	17: 43,937,442 (GRCm39)	S1202N	probably benign	Het
Tekt2	T	C	4: 126,217,529 (GRCm39)	K179E	probably damaging	Het
Tekt4	G	T	17: 25,692,785 (GRCm39)		probably null	Het
Tmprss5	G	T	9: 49,018,464 (GRCm39)	R98L	probably benign	Het
Tns1	G	T	1: 73,955,635 (GRCm39)		probably benign	Het
Tpcn1	A	C	5: 120,674,292 (GRCm39)		probably null	Het
Ttc6	T	C	12: 57,741,286 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,964,796 (GRCm39)	N706S	possibly damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr17	A	T	8: 55,143,159 (GRCm39)	S140T	probably benign	Het
Wdr19	A	T	5: 65,370,234 (GRCm39)	I123F	possibly damaging	Het
Zer1	C	T	2: 30,000,230 (GRCm39)	A317T	probably benign	Het
Zfp474	A	G	18: 52,771,872 (GRCm39)	D175G	probably damaging	Het
Zfp598	T	C	17: 24,900,104 (GRCm39)		probably benign	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	Het

Other mutations in Cers4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Cers4	APN	8	4,571,216 (GRCm39)	missense	probably benign	0.13
IGL02407:Cers4	APN	8	4,570,306 (GRCm39)	nonsense	probably null
IGL03244:Cers4	APN	8	4,566,878 (GRCm39)	missense	probably damaging	0.99
Radlauer	UTSW	8	4,569,475 (GRCm39)	missense	probably damaging	1.00
willis	UTSW	8	4,568,269 (GRCm39)	nonsense	probably null
R1170:Cers4	UTSW	8	4,569,475 (GRCm39)	missense	probably damaging	1.00
R1177:Cers4	UTSW	8	4,566,931 (GRCm39)	missense	probably null	0.00
R1346:Cers4	UTSW	8	4,565,632 (GRCm39)	missense	probably damaging	1.00
R1506:Cers4	UTSW	8	4,570,557 (GRCm39)	missense	probably benign	0.30
R1652:Cers4	UTSW	8	4,566,908 (GRCm39)	splice site	probably null
R1952:Cers4	UTSW	8	4,573,461 (GRCm39)	nonsense	probably null
R3790:Cers4	UTSW	8	4,568,285 (GRCm39)	missense	possibly damaging	0.87
R4342:Cers4	UTSW	8	4,571,223 (GRCm39)	missense	probably damaging	1.00
R5001:Cers4	UTSW	8	4,565,565 (GRCm39)	missense	probably benign	0.33
R5338:Cers4	UTSW	8	4,565,680 (GRCm39)	missense	probably damaging	0.98
R5785:Cers4	UTSW	8	4,566,992 (GRCm39)	critical splice donor site	probably null
R5980:Cers4	UTSW	8	4,568,269 (GRCm39)	nonsense	probably null
R6315:Cers4	UTSW	8	4,566,980 (GRCm39)	missense	probably benign	0.02
R6891:Cers4	UTSW	8	4,573,731 (GRCm39)	missense	probably damaging	0.99
R7554:Cers4	UTSW	8	4,565,718 (GRCm39)	missense	probably benign
R7921:Cers4	UTSW	8	4,565,704 (GRCm39)	missense	probably damaging	0.97
R8368:Cers4	UTSW	8	4,565,698 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCCTTACCTTAGTTCACATGGC -3'
(R):5'- GCATTACACTAGTGCTGCACTC -3'

Sequencing Primer
(F):5'- AGTTCACATGGCTTCACCCCATAG -3'
(R):5'- AGTGCTGCACTCAGTTTTCTG -3'

Posted On

2014-06-23