Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Cers1'

507526

Institutional Source

Beutler Lab

Gene Symbol

Cers1

Ensembl Gene

ENSMUSG00000087408

Gene Name

ceramide synthase 1

Synonyms

Uog-1, to, CerS1, Lass1

MMRRC Submission

044444-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R6274 (G1)

Quality Score

109.008

Status

Validated

Chromosome

Chromosomal Location

70768425-70784238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70783727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 225 (L225Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075666] [ENSMUST00000140239] [ENSMUST00000165819] [ENSMUST00000207684] [ENSMUST00000215817]

AlphaFold

P20863
P27545

Predicted Effect

probably benign
Transcript: ENSMUST00000075666

SMART Domains

Protein: ENSMUSP00000075089
Gene: ENSMUSG00000058301

Domain	Start	End	E-Value	Type
low complexity region	47	67	N/A	INTRINSIC
low complexity region	101	110	N/A	INTRINSIC
Pfam:UPF1_Zn_bind	116	267	4.1e-78	PFAM
Pfam:ResIII	475	617	1.3e-6	PFAM
Pfam:AAA_11	476	600	4.5e-24	PFAM
Pfam:AAA_30	476	688	5.6e-13	PFAM
Pfam:AAA_19	483	559	3.8e-16	PFAM
Pfam:AAA_11	576	679	7.7e-30	PFAM
Pfam:AAA_12	686	883	3.3e-64	PFAM
low complexity region	995	1001	N/A	INTRINSIC
low complexity region	1013	1028	N/A	INTRINSIC
low complexity region	1066	1081	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140239

SMART Domains

Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165819
AA Change: L225Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128325
Gene: ENSMUSG00000087408
AA Change: L225Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207684
AA Change: L225Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000215817

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,172,600 (GRCm39)	S528T	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,258,354 (GRCm39)	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,771,243 (GRCm39)	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,343,832 (GRCm39)	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,016,783 (GRCm39)	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,210,161 (GRCm39)	V138A	probably damaging	Het
Cep290	A	G	10: 100,366,069 (GRCm39)	E1099G	probably damaging	Het
Cfb	T	C	17: 35,081,069 (GRCm39)	Q7R	probably benign	Het
Clk4	A	G	11: 51,162,748 (GRCm39)	S98G	possibly damaging	Het
Clock	A	G	5: 76,385,000 (GRCm39)	S406P	probably benign	Het
Csmd3	T	C	15: 47,484,833 (GRCm39)	I3178V	probably benign	Het
Dock10	A	G	1: 80,516,540 (GRCm39)	S1397P	probably damaging	Het
Fer1l4	A	G	2: 155,871,188 (GRCm39)	L1421P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Greb1	G	T	12: 16,785,152 (GRCm39)	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,653,388 (GRCm39)	C336S	probably damaging	Het
Hdac1	A	G	4: 129,412,902 (GRCm39)	C261R	probably damaging	Het
Htt	T	C	5: 35,009,431 (GRCm39)	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,742,958 (GRCm39)	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,718,961 (GRCm39)	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180 (GRCm38)	V112I	probably benign	Het
Kif21b	A	G	1: 136,077,156 (GRCm39)	I393V	possibly damaging	Het
Krt74	T	C	15: 101,671,872 (GRCm39)		noncoding transcript	Het
Krtap29-1	T	C	11: 99,869,809 (GRCm39)	N24S	probably null	Het
Mmut	T	C	17: 41,267,136 (GRCm39)	V570A	probably benign	Het
Myh7	T	C	14: 55,216,943 (GRCm39)	D1138G	probably damaging	Het
Nktr	T	C	9: 121,560,631 (GRCm39)	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,320,554 (GRCm39)	L861Q	probably damaging	Het
Notch3	C	A	17: 32,366,264 (GRCm39)	R990L	probably benign	Het
Nrap	T	C	19: 56,350,153 (GRCm39)	D655G	probably benign	Het
Or10ak8	A	T	4: 118,774,427 (GRCm39)	V79E	probably benign	Het
Or5b99	G	A	19: 12,977,234 (GRCm39)	V295I	probably damaging	Het
Osbpl11	T	A	16: 33,047,426 (GRCm39)	I463N	probably damaging	Het
Pcsk6	A	T	7: 65,683,592 (GRCm39)	R749W	probably damaging	Het
Plaat5	C	T	19: 7,614,831 (GRCm39)	T231I	probably damaging	Het
Plxnb1	T	C	9: 108,941,209 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,931,874 (GRCm39)		probably null	Het
Ppm1g	T	C	5: 31,363,750 (GRCm39)	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,096,751 (GRCm39)	S191P	probably benign	Het
Prodh	T	C	16: 17,898,922 (GRCm39)	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,607,911 (GRCm39)	V103A	possibly damaging	Het
Sap18b	C	T	8: 96,552,169 (GRCm39)	H60Y	probably benign	Het
Sclt1	A	G	3: 41,583,951 (GRCm39)		probably null	Het
Serpinb1a	G	T	13: 33,026,849 (GRCm39)	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,623,231 (GRCm39)	Q107*	probably null	Het
Sipa1l2	C	T	8: 126,196,611 (GRCm39)	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Uaca	T	A	9: 60,757,573 (GRCm39)		probably null	Het
Uqcrc1	C	A	9: 108,771,224 (GRCm39)	H95N	probably damaging	Het
Usp9y	C	T	Y: 1,316,735 (GRCm39)	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,156,257 (GRCm39)	R42W	probably damaging	Het
Zfp326	T	A	5: 106,053,846 (GRCm39)	L242Q	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
R5450:Cers1	UTSW	8	70,770,947 (GRCm39)	missense	probably damaging	0.99
R5987:Cers1	UTSW	8	70,774,228 (GRCm39)	missense	possibly damaging	0.78
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'- TTGACCTGTCGAATGTGGAGC -3'
(R):5'- ATGGGTGATAGACGCTCTGG -3'

Sequencing Primer
(F):5'- AGCTAAGCGTGGCACTGTG -3'
(R):5'- TGATAGACGCTCTGGCACGC -3'

Posted On

2018-03-15