Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01982:Cers1'

182773

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cers1

Ensembl Gene

ENSMUSG00000087408

Gene Name

ceramide synthase 1

Synonyms

CerS1, to, Uog-1, Lass1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

IGL01982

Quality Score

Status

Chromosome

Chromosomal Location

70315775-70331592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70323431 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 324 (D324G)

Ref Sequence

ENSEMBL: ENSMUSP00000120598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140239] [ENSMUST00000165819]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136257

Predicted Effect

probably damaging
Transcript: ENSMUST00000140239
AA Change: D324G

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

SMART Domains

Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408
AA Change: D324G

Domain	Start	End	E-Value	Type
low complexity region	49	68	N/A	INTRINSIC
TLC	97	311	1.24e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165819

SMART Domains

Protein: ENSMUSP00000128325
Gene: ENSMUSG00000087408

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:TGFb_propeptide	33	169	7e-16	PFAM
low complexity region	225	237	N/A	INTRINSIC
TGFB	251	357	6.22e-56	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Mice lacking a functional copy of this gene exhibit impaired cerebellar development, locomotion and motor coordination. This protein is transcribed from a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	G	17: 33,066,315	E504D	probably benign	Het
Abca12	A	C	1: 71,346,698	S254A	probably benign	Het
Abca7	T	G	10: 80,002,641	L583R	probably damaging	Het
Acp1	A	T	12: 30,911,492	L14H	possibly damaging	Het
Adar	A	G	3: 89,738,090	I3V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1l1	A	G	6: 90,559,863	I103V	probably benign	Het
Asic3	C	A	5: 24,417,721	T523N	probably benign	Het
Aspm	T	C	1: 139,491,588	V1732A	probably benign	Het
Atad3a	C	T	4: 155,753,927	R211Q	possibly damaging	Het
Bahcc1	A	G	11: 120,287,473	Y2286C	probably damaging	Het
BC034090	T	C	1: 155,223,332	E569G	probably damaging	Het
Bpifb3	A	G	2: 153,925,601	N237S	probably benign	Het
Bysl	C	A	17: 47,611,071		probably null	Het
C2cd6	T	C	1: 59,067,773		probably benign	Het
Ccdc141	A	G	2: 77,030,659	F925L	probably damaging	Het
Cdca2	A	T	14: 67,677,719	V697E	probably damaging	Het
Ctsq	T	A	13: 61,038,918	I91F	probably benign	Het
Ctsq	C	T	13: 61,039,521	C11Y	probably benign	Het
Cyp11b1	T	C	15: 74,839,403	N142S	possibly damaging	Het
Cyp3a59	G	T	5: 146,104,735	S363I	probably benign	Het
Eps15l1	A	T	8: 72,379,075	D567E	probably benign	Het
Esf1	G	A	2: 140,164,528	A233V	probably benign	Het
Fras1	A	T	5: 96,739,248	I2630F	possibly damaging	Het
Fyb	A	T	15: 6,580,177	E77V	probably null	Het
Gjb6	C	A	14: 57,124,573	W77L	probably damaging	Het
Gm21983	A	G	7: 27,180,278	V88A	possibly damaging	Het
Gm8247	A	G	14: 44,585,631	T52A	probably damaging	Het
Gpr108	T	C	17: 57,237,877	K329E	probably damaging	Het
Gpr141	T	A	13: 19,751,738	H289L	probably benign	Het
Ilvbl	T	C	10: 78,579,022	Y240H	probably damaging	Het
Kntc1	G	A	5: 123,809,096	A1868T	probably benign	Het
Lrmda	A	C	14: 22,584,482	N112T	probably damaging	Het
Ly75	T	C	2: 60,311,764	Y1334C	probably damaging	Het
Macc1	C	A	12: 119,445,634	P46T	probably benign	Het
Madd	A	T	2: 91,175,707	F381Y	probably damaging	Het
Map3k20	C	T	2: 72,298,333	Q38*	probably null	Het
Mcm4	A	T	16: 15,630,420	D424E	possibly damaging	Het
Micu1	T	A	10: 59,863,278	M463K	possibly damaging	Het
Mkrn2os	A	G	6: 115,585,531	L157P	probably damaging	Het
Nectin2	A	G	7: 19,717,562	S516P	probably damaging	Het
Nme5	T	A	18: 34,569,875	D120V	probably damaging	Het
Npy4r	T	C	14: 34,147,325	N2S	possibly damaging	Het
Nup107	A	T	10: 117,759,340		probably benign	Het
Omd	T	C	13: 49,589,497	Y8H	possibly damaging	Het
Ppp1r15a	T	C	7: 45,524,379		probably benign	Het
Ppp2ca	T	C	11: 52,099,064	F6L	probably benign	Het
Rab1a	T	C	11: 20,224,717	S97P	probably benign	Het
Ranbp3l	G	A	15: 9,058,746	G359R	probably damaging	Het
Rnf213	A	T	11: 119,443,268	H3101L	probably damaging	Het
Slc27a4	T	C	2: 29,812,615	F509S	probably damaging	Het
Slco4a1	T	C	2: 180,473,153	V623A	probably benign	Het
Spg20	T	A	3: 55,128,490		probably null	Het
Sptan1	A	G	2: 30,019,968	D1780G	probably damaging	Het
Tgm7	G	T	2: 121,093,625	Y605*	probably null	Het
Tmem106b	T	C	6: 13,071,969		probably benign	Het
Trak2	G	A	1: 58,926,655	A120V	possibly damaging	Het
Trappc8	G	A	18: 20,874,712		probably benign	Het
Trim66	T	C	7: 109,458,763	T973A	probably benign	Het
Ttyh3	C	A	5: 140,636,074		probably benign	Het
Ugt2b37	A	C	5: 87,242,432	I385S	probably damaging	Het
Usf3	A	G	16: 44,218,817	N1220S	possibly damaging	Het
Utrn	A	T	10: 12,748,029	I155N	probably damaging	Het
Vps13b	C	T	15: 35,438,904	Q377*	probably null	Het
Washc2	A	T	6: 116,236,189	E570D	probably benign	Het
Wscd1	T	C	11: 71,766,873	V168A	possibly damaging	Het
Zfp386	T	A	12: 116,059,168	C169S	probably benign	Het

Other mutations in Cers1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01559:Cers1	APN	8	70323233	missense	probably damaging	1.00
IGL02827:Cers1	APN	8	70321527	missense	probably damaging	1.00
R1025:Cers1	UTSW	8	70321536	missense	probably benign	0.44
R1456:Cers1	UTSW	8	70331188	missense	probably damaging	1.00
R1467:Cers1	UTSW	8	70323169	missense	possibly damaging	0.89
R1467:Cers1	UTSW	8	70323169	missense	possibly damaging	0.89
R1764:Cers1	UTSW	8	70321491	splice site	probably null
R2397:Cers1	UTSW	8	70321536	missense	probably benign	0.44
R3107:Cers1	UTSW	8	70322636	missense	probably benign	0.30
R3808:Cers1	UTSW	8	70330010	missense	possibly damaging	0.85
R3809:Cers1	UTSW	8	70330010	missense	possibly damaging	0.85
R4789:Cers1	UTSW	8	70323368	missense	probably damaging	0.96
R5450:Cers1	UTSW	8	70318297	missense	probably damaging	0.99
R5987:Cers1	UTSW	8	70321578	missense	possibly damaging	0.78
R6274:Cers1	UTSW	8	70331077	missense	probably damaging	1.00
R6535:Cers1	UTSW	8	70330154	missense	probably damaging	1.00
R7060:Cers1	UTSW	8	70315905	missense	possibly damaging	0.86
R7152:Cers1	UTSW	8	70318251	missense	probably damaging	1.00
R8338:Cers1	UTSW	8	70331122	missense	possibly damaging	0.92
R8371:Cers1	UTSW	8	70329573	missense	probably benign
Z1176:Cers1	UTSW	8	70318318	missense	probably benign	0.07

Posted On

2014-05-07