Mutagenetix > Incidental Mutation

Incidental Mutation 'R3809:Cers1'

275106

Institutional Source

Beutler Lab

Gene Symbol

Cers1

Ensembl Gene

ENSMUSG00000087408

Gene Name

ceramide synthase 1

Synonyms

Uog-1, to, CerS1, Lass1

MMRRC Submission

040766-MU

Accession Numbers

Essential gene?

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

Stock #

R3809 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70768425-70784238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70782660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 10 (D10G)

Ref Sequence

ENSEMBL: ENSMUSP00000146749 (fasta)

Gene Model

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

AlphaFold

P20863
P27545

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046516
AA Change: D10G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045892
Gene: ENSMUSG00000055694
AA Change: D10G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	134	144	N/A	INTRINSIC
low complexity region	225	237	N/A	INTRINSIC
TGFB	251	357	6.22e-56	SMART

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

possibly damaging
Transcript: ENSMUST00000165819
AA Change: D10G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128325
Gene: ENSMUSG00000087408
AA Change: D10G

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

possibly damaging
Transcript: ENSMUST00000207684
AA Change: D10G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000215817

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
3425401B19Rik	T	C	14: 32,385,650 (GRCm39)	Y105C	possibly damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Apol7e	A	T	15: 77,602,262 (GRCm39)	T287S	probably benign	Het
Arhgap12	A	T	18: 6,037,057 (GRCm39)	N561K	probably benign	Het
Armc3	G	T	2: 19,305,476 (GRCm39)	A757S	probably damaging	Het
Baz2b	A	T	2: 59,799,240 (GRCm39)	S295T	probably benign	Het
Brd4	T	A	17: 32,430,244 (GRCm39)	K686N	possibly damaging	Het
Btnl6	T	C	17: 34,727,202 (GRCm39)	T443A	probably benign	Het
Cacna1g	T	C	11: 94,306,922 (GRCm39)	T1801A	probably damaging	Het
Celsr2	G	A	3: 108,310,555 (GRCm39)	T1509I	possibly damaging	Het
Cntnap3	A	G	13: 64,929,618 (GRCm39)	V527A	probably damaging	Het
Cog1	G	T	11: 113,545,836 (GRCm39)	M370I	probably benign	Het
Col6a6	C	G	9: 105,657,891 (GRCm39)	V774L	probably damaging	Het
Csf1r	T	A	18: 61,245,836 (GRCm39)	S264R	probably benign	Het
Ctnna2	A	T	6: 76,931,740 (GRCm39)	V620D	probably damaging	Het
Eif2b4	A	G	5: 31,348,512 (GRCm39)	S88P	possibly damaging	Het
Frmd4b	G	A	6: 97,300,690 (GRCm39)	L214F	possibly damaging	Het
Fstl1	T	A	16: 37,647,113 (GRCm39)	L161Q	probably damaging	Het
Hdac1	A	G	4: 129,418,113 (GRCm39)	F94S	probably damaging	Het
Hlf	T	C	11: 90,278,929 (GRCm39)	D45G	probably benign	Het
Hps3	A	T	3: 20,072,976 (GRCm39)	M501K	probably damaging	Het
Ighv14-4	A	G	12: 114,140,174 (GRCm39)	Y79H	probably damaging	Het
Ip6k1	T	A	9: 107,923,086 (GRCm39)	V406D	probably damaging	Het
Iqcf1	T	C	9: 106,379,077 (GRCm39)	S29P	probably benign	Het
Itga11	A	G	9: 62,678,664 (GRCm39)	T944A	probably benign	Het
Kcnj12	A	G	11: 60,961,103 (GRCm39)	N467S	probably benign	Het
Klhdc3	T	A	17: 46,988,858 (GRCm39)	N111Y	possibly damaging	Het
Kmt2c	T	C	5: 25,614,136 (GRCm39)	R195G	possibly damaging	Het
Lin9	A	G	1: 180,486,676 (GRCm39)	I81V	probably null	Het
Lrp2	T	C	2: 69,331,892 (GRCm39)	D1621G	probably damaging	Het
Med15	C	T	16: 17,473,598 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,146,801 (GRCm39)	I2821T	possibly damaging	Het
Or14j6	T	C	17: 38,214,464 (GRCm39)	V9A	probably benign	Het
Or2a25	A	T	6: 42,889,271 (GRCm39)	K271N	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Or56b1	A	T	7: 104,285,540 (GRCm39)	I220L	possibly damaging	Het
Or8b3b	C	T	9: 38,584,159 (GRCm39)	V207I	probably benign	Het
Paxip1	A	G	5: 27,977,027 (GRCm39)		probably benign	Het
Pfas	T	C	11: 68,880,779 (GRCm39)		probably benign	Het
Pfdn1	C	T	18: 36,584,145 (GRCm39)	G63D	probably damaging	Het
Pgghg	T	C	7: 140,525,208 (GRCm39)	F405L	probably damaging	Het
Plcd3	T	C	11: 102,992,209 (GRCm39)	M50V	probably null	Het
Plekha8	C	A	6: 54,596,334 (GRCm39)	S198R	probably benign	Het
Ppp4c	C	T	7: 126,386,499 (GRCm39)	G166D	probably damaging	Het
Rassf2	T	C	2: 131,840,180 (GRCm39)		probably null	Het
Rnf217	T	A	10: 31,379,804 (GRCm39)	I473F	possibly damaging	Het
Sec16a	G	C	2: 26,331,825 (GRCm39)	N63K	possibly damaging	Het
Sik3	A	G	9: 46,130,784 (GRCm39)	D1240G	probably benign	Het
Slamf1	A	G	1: 171,625,745 (GRCm39)	D307G	probably null	Het
Slc2a3	A	G	6: 122,709,388 (GRCm39)	I337T	probably benign	Het
Tent4a	A	G	13: 69,661,115 (GRCm39)	V51A	probably damaging	Het
Tinag	C	T	9: 76,859,187 (GRCm39)	D474N	probably benign	Het
Ublcp1	A	G	11: 44,349,109 (GRCm39)	F242L	probably benign	Het
Ucp1	C	A	8: 84,017,270 (GRCm39)	A20D	probably damaging	Het
Ugt1a7c	C	T	1: 88,023,104 (GRCm39)	R88W	possibly damaging	Het
Wipf3	A	G	6: 54,458,780 (GRCm39)	D45G	probably damaging	Het
Zfp592	G	A	7: 80,674,280 (GRCm39)	A415T	probably benign	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
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
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'- AAGATTCAGGATGCTACCCTTCTC -3'
(R):5'- TAGTTCCTCCACGTGGCATG -3'

Sequencing Primer
(F):5'- AGCAGCTCCGCCTTTCAG -3'
(R):5'- CCACTCTGGCCTCCTGG -3'

Posted On

2015-04-02