Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Cers1'

429281

Institutional Source

Beutler Lab

Gene Symbol

Cers1

Ensembl Gene

ENSMUSG00000087408

Gene Name

ceramide synthase 1

Synonyms

Uog-1, to, CerS1, Lass1

MMRRC Submission

043015-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70768425-70784238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70770947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 119 (L119P)

Ref Sequence

ENSEMBL: ENSMUSP00000120598 (fasta)

Gene Model

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

AlphaFold

P20863
P27545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136257

Predicted Effect

probably damaging
Transcript: ENSMUST00000140239
AA Change: L119P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408
AA Change: L119P

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

Meta Mutation Damage Score

0.8409

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Arhgef4	T	G	1: 34,846,405 (GRCm39)		probably benign	Het
Atg14	T	C	14: 47,788,921 (GRCm39)	N144S	probably benign	Het
Cacna1h	A	T	17: 25,602,160 (GRCm39)	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,412,327 (GRCm39)	H138L	possibly damaging	Het
Cd200r2	T	A	16: 44,729,934 (GRCm39)	D159E	probably benign	Het
Cd79a	G	T	7: 24,598,687 (GRCm39)	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,712,133 (GRCm39)	H38R	possibly damaging	Het
Ces1f	C	A	8: 93,992,423 (GRCm39)	V343L	probably benign	Het
Ces3a	G	A	8: 105,784,550 (GRCm39)	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,175,079 (GRCm39)	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,228,113 (GRCm39)	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,747,860 (GRCm39)	T523A	probably benign	Het
Ddx31	T	C	2: 28,776,981 (GRCm39)	S567P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsg1b	A	C	18: 20,542,121 (GRCm39)	H876P	probably damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Eno4	T	C	19: 58,948,679 (GRCm39)	F393S	possibly damaging	Het
Eral1	C	T	11: 77,969,183 (GRCm39)	D106N	probably benign	Het
Esp18	G	T	17: 39,719,070 (GRCm39)	R23M	probably benign	Het
Fam184b	C	T	5: 45,697,143 (GRCm39)	V674I	probably benign	Het
Fbxw13	A	C	9: 109,013,225 (GRCm39)	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,254,991 (GRCm39)	V130A	probably damaging	Het
Hc	T	C	2: 34,903,050 (GRCm39)	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,294,126 (GRCm39)	S6T	unknown	Het
Ikzf3	C	T	11: 98,357,912 (GRCm39)	R475H	probably damaging	Het
Itprid1	T	A	6: 55,945,796 (GRCm39)		probably null	Het
Kcmf1	A	T	6: 72,819,913 (GRCm39)	L311*	probably null	Het
Kmt2d	C	A	15: 98,752,967 (GRCm39)	E184D	probably damaging	Het
Lrguk	A	T	6: 34,047,996 (GRCm39)	I314F	probably damaging	Het
Maml2	A	C	9: 13,617,763 (GRCm39)	S370R	probably damaging	Het
Mroh1	C	A	15: 76,316,547 (GRCm39)		probably benign	Het
Mx1	A	T	16: 97,255,347 (GRCm39)	Y235*	probably null	Het
Or4x6	A	G	2: 89,949,013 (GRCm39)	*310Q	probably null	Het
Pamr1	T	G	2: 102,469,662 (GRCm39)	Y403D	probably damaging	Het
Panx2	A	G	15: 88,953,162 (GRCm39)	E551G	possibly damaging	Het
Patl2	A	G	2: 121,955,762 (GRCm39)	V258A	probably benign	Het
Ppm1m	A	G	9: 106,074,041 (GRCm39)	F255L	probably benign	Het
Prpf40a	G	T	2: 53,046,938 (GRCm39)	T266N	possibly damaging	Het
Psg18	T	A	7: 18,087,350 (GRCm39)	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,543,583 (GRCm39)		noncoding transcript	Het
Rps6kb1	A	T	11: 86,423,663 (GRCm39)	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sardh	G	T	2: 27,129,710 (GRCm39)	T245K	possibly damaging	Het
Shprh	T	G	10: 11,088,074 (GRCm39)	I1619S	possibly damaging	Het
Skint1	G	A	4: 111,882,729 (GRCm39)	V258I	probably benign	Het
Slc27a5	T	C	7: 12,728,869 (GRCm39)	D331G	probably benign	Het
Slc29a2	A	G	19: 5,079,303 (GRCm39)	I309V	probably benign	Het
Slc30a5	C	T	13: 100,957,680 (GRCm39)	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,529,300 (GRCm39)	A531D	probably damaging	Het
Slc6a16	C	T	7: 44,910,672 (GRCm39)	T399I	probably benign	Het
Slitrk6	T	A	14: 110,987,529 (GRCm39)	H726L	probably benign	Het
Snx2	A	G	18: 53,343,784 (GRCm39)	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,578,217 (GRCm39)	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Tcstv7a	A	T	13: 120,289,899 (GRCm39)	V99E	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Vmn1r47	T	C	6: 89,999,195 (GRCm39)	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,490,376 (GRCm39)	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,664,611 (GRCm39)	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,034,011 (GRCm39)	T504A	probably benign	Het
Wdr75	C	A	1: 45,851,324 (GRCm39)	A300E	probably benign	Het
Yars1	A	G	4: 129,091,039 (GRCm39)	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,274,771 (GRCm39)	F35L	probably damaging	Het
Zfp366	A	G	13: 99,366,093 (GRCm39)	Y418C	probably damaging	Het

Other mutations in Cers1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01559:Cers1	APN	8	70,775,883 (GRCm39)	missense	probably damaging	1.00
IGL01982:Cers1	APN	8	70,776,081 (GRCm39)	missense	probably damaging	0.99
IGL02827:Cers1	APN	8	70,774,177 (GRCm39)	missense	probably damaging	1.00
R1025:Cers1	UTSW	8	70,774,186 (GRCm39)	missense	probably benign	0.44
R1456:Cers1	UTSW	8	70,783,838 (GRCm39)	missense	probably damaging	1.00
R1467:Cers1	UTSW	8	70,775,819 (GRCm39)	missense	possibly damaging	0.89
R1467:Cers1	UTSW	8	70,775,819 (GRCm39)	missense	possibly damaging	0.89
R1764:Cers1	UTSW	8	70,774,141 (GRCm39)	splice site	probably null
R2397:Cers1	UTSW	8	70,774,186 (GRCm39)	missense	probably benign	0.44
R3107:Cers1	UTSW	8	70,775,286 (GRCm39)	missense	probably benign	0.30
R3808:Cers1	UTSW	8	70,782,660 (GRCm39)	missense	possibly damaging	0.85
R3809:Cers1	UTSW	8	70,782,660 (GRCm39)	missense	possibly damaging	0.85
R4789:Cers1	UTSW	8	70,776,018 (GRCm39)	missense	probably damaging	0.96
R5987:Cers1	UTSW	8	70,774,228 (GRCm39)	missense	possibly damaging	0.78
R6274:Cers1	UTSW	8	70,783,727 (GRCm39)	missense	probably damaging	1.00
R6535:Cers1	UTSW	8	70,782,804 (GRCm39)	missense	probably damaging	1.00
R7060:Cers1	UTSW	8	70,768,555 (GRCm39)	missense	possibly damaging	0.86
R7152:Cers1	UTSW	8	70,770,901 (GRCm39)	missense	probably damaging	1.00
R8338:Cers1	UTSW	8	70,783,772 (GRCm39)	missense	possibly damaging	0.92
R8371:Cers1	UTSW	8	70,782,223 (GRCm39)	missense	probably benign
R8524:Cers1	UTSW	8	70,783,898 (GRCm39)	missense	probably damaging	1.00
Z1176:Cers1	UTSW	8	70,770,968 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGAGTCCCTGGGTCTCACTTTG -3'
(R):5'- TGCATGACATGGTGCACAC -3'

Sequencing Primer
(F):5'- TCACTTTGTCCCCTGGAGGAG -3'
(R):5'- TGCATGACATGGTGCACAC -3'

Posted On

2016-09-06