Mutagenetix > Incidental Mutation

Incidental Mutation 'R1652:Cers4'

188786

Institutional Source

Beutler Lab

Gene Symbol

Cers4

Ensembl Gene

ENSMUSG00000008206

Gene Name

ceramide synthase 4

Synonyms

2900019C14Rik, CerS4, Lass4, Trh1

MMRRC Submission

039688-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4542863-4579603 bp(+) (GRCm39)

Type of Mutation

splice site (1183 bp from exon)

DNA Base Change (assembly)

T to A at 4566908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008350] [ENSMUST00000176042] [ENSMUST00000176130]

AlphaFold

Q9D6J1

Predicted Effect

probably damaging
Transcript: ENSMUST00000008350
AA Change: V70E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000008350
Gene: ENSMUSG00000008206
AA Change: V70E

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 null
Transcript: ENSMUST00000176042

SMART Domains

Protein: ENSMUSP00000135594
Gene: ENSMUSG00000008206

Domain	Start	End	E-Value	Type
Blast:TLC	4	38	4e-9	BLAST
low complexity region	39	52	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176130
AA Change: V70E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135652
Gene: ENSMUSG00000008206
AA Change: V70E

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: ENSMUST00000177010

SMART Domains

Protein: ENSMUSP00000135763
Gene: ENSMUSG00000008206

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	A	14: 66,314,700 (GRCm39)	E37V	probably benign	Het
Adamts7	A	G	9: 90,071,697 (GRCm39)	D664G	probably damaging	Het
Adamtsl5	A	G	10: 80,178,011 (GRCm39)	V256A	probably benign	Het
Adrb1	C	T	19: 56,711,705 (GRCm39)	S301L	possibly damaging	Het
Akap9	A	G	5: 4,127,210 (GRCm39)	Y3686C	probably damaging	Het
Ap3b2	A	G	7: 81,123,147 (GRCm39)	S456P	probably damaging	Het
Atp1a4	T	C	1: 172,082,470 (GRCm39)	Y124C	probably damaging	Het
Bdkrb1	A	T	12: 105,570,502 (GRCm39)	T23S	probably damaging	Het
Cacna1g	A	G	11: 94,318,230 (GRCm39)	Y1468H	probably damaging	Het
Cep170b	A	G	12: 112,699,947 (GRCm39)	D152G	probably damaging	Het
Cplane1	G	T	15: 8,230,630 (GRCm39)	R969L	probably damaging	Het
Cyp2t4	A	T	7: 26,856,815 (GRCm39)	D285V	possibly damaging	Het
Ddx56	A	T	11: 6,217,679 (GRCm39)	L14Q	probably damaging	Het
Dennd2d	C	A	3: 106,394,317 (GRCm39)	R63S	probably benign	Het
Dnah7b	T	A	1: 46,214,550 (GRCm39)	L1105*	probably null	Het
Eef1e1	A	T	13: 38,840,081 (GRCm39)	L75I	possibly damaging	Het
Eif1ad11	T	A	12: 87,993,853 (GRCm39)	V27E	probably benign	Het
Fam76b	A	G	9: 13,747,188 (GRCm39)	S191G	probably benign	Het
Fat1	T	A	8: 45,478,215 (GRCm39)	Y2420*	probably null	Het
Fbxw18	T	A	9: 109,519,695 (GRCm39)	L270F	probably benign	Het
Fech	T	A	18: 64,591,269 (GRCm39)	H385L	probably benign	Het
Fkbp4	A	T	6: 128,413,637 (GRCm39)	I2N	probably damaging	Het
Gda	A	T	19: 21,378,042 (GRCm39)	M339K	probably damaging	Het
Gdpgp1	T	A	7: 79,889,112 (GRCm39)	M381K	probably benign	Het
Glyctk	C	A	9: 106,034,356 (GRCm39)	V173L	probably damaging	Het
Gtf2ird1	G	A	5: 134,424,567 (GRCm39)	P393L	probably damaging	Het
Kat2a	T	C	11: 100,599,437 (GRCm39)	N517D	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama1	G	A	17: 68,114,841 (GRCm39)	R2330Q	probably damaging	Het
Lamc1	C	T	1: 153,125,392 (GRCm39)	G597E	probably damaging	Het
Lekr1	A	T	3: 65,591,508 (GRCm39)	S82C	probably benign	Het
Lgi3	T	C	14: 70,768,656 (GRCm39)	F51S	probably damaging	Het
Lrba	T	C	3: 86,447,245 (GRCm39)	S2030P	probably damaging	Het
Map4k5	A	G	12: 69,877,201 (GRCm39)		probably null	Het
Mcoln2	C	A	3: 145,869,390 (GRCm39)	R32S	possibly damaging	Het
Metap1	A	T	3: 138,168,151 (GRCm39)	F324L	probably damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Ncf4	T	A	15: 78,145,234 (GRCm39)	M274K	possibly damaging	Het
Nup205	T	G	6: 35,215,901 (GRCm39)	V1747G	probably benign	Het
Or10d3	G	A	9: 39,461,591 (GRCm39)	T192I	probably benign	Het
Or52r1c	A	G	7: 102,735,013 (GRCm39)	D91G	probably benign	Het
Or5ae1	T	C	7: 84,565,728 (GRCm39)	V247A	probably damaging	Het
Pbx3	C	T	2: 34,114,568 (GRCm39)	G122D	probably damaging	Het
Plcb3	A	G	19: 6,932,664 (GRCm39)	F1034L	probably benign	Het
Ppp2r1a	G	A	17: 21,176,236 (GRCm39)	V153I	probably benign	Het
Prss33	C	G	17: 24,054,115 (GRCm39)	M30I	probably benign	Het
Prss33	A	T	17: 24,054,116 (GRCm39)	M30K	probably benign	Het
R3hdm2	G	A	10: 127,330,960 (GRCm39)	S793N	probably benign	Het
Rab11fip5	C	T	6: 85,325,279 (GRCm39)	V343M	probably damaging	Het
Rere	A	G	4: 150,696,522 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,363,090 (GRCm39)	P52Q	probably damaging	Het
Scpep1	G	T	11: 88,843,260 (GRCm39)	S66*	probably null	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc3	A	T	13: 51,626,875 (GRCm39)	H129Q	probably damaging	Het
Slc22a20	A	T	19: 6,022,970 (GRCm39)	M391K	probably damaging	Het
Smurf1	A	T	5: 144,817,474 (GRCm39)	I712K	probably damaging	Het
Snx25	T	A	8: 46,502,510 (GRCm39)	I629L	probably damaging	Het
Supt16	A	C	14: 52,414,637 (GRCm39)	V425G	probably benign	Het
Tnik	G	A	3: 28,658,442 (GRCm39)	V576I	probably benign	Het
Trcg1	A	C	9: 57,152,856 (GRCm39)	D551A	probably damaging	Het
Ubald2	A	G	11: 116,325,178 (GRCm39)	N15S	probably damaging	Het
Usf1	T	C	1: 171,245,317 (GRCm39)	I243T	probably damaging	Het
Vmn2r19	A	T	6: 123,292,656 (GRCm39)	I233F	possibly damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wdr27	A	G	17: 15,137,532 (GRCm39)	F419L	probably benign	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
R1819:Cers4	UTSW	8	4,571,232 (GRCm39)	missense	probably benign	0.00
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'- CATTTTGGCTCTGGGCTTCCAAAC -3'
(R):5'- ACTGATCCACTAGTCTCTGCACAGC -3'

Sequencing Primer
(F):5'- GCTTCCAAACCCTCTTTTCAGATAG -3'
(R):5'- CTAGTCTCTGCACAGCAGGAAG -3'

Posted On

2014-05-09