Mutagenetix > Incidental Mutation

Incidental Mutation 'R1538:Cers3'

169689

Institutional Source

Beutler Lab

Gene Symbol

Cers3

Ensembl Gene

ENSMUSG00000030510

Gene Name

ceramide synthase 3

Synonyms

T3L, related to TRH3, Lass3, CerS3, 4930550L11Rik, LOC233330

MMRRC Submission

039577-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R1538 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66393252-66473439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66431571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 182 (T182I)

Ref Sequence

ENSEMBL: ENSMUSP00000069238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066475] [ENSMUST00000208521]

AlphaFold

Q1A3B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000066475
AA Change: T182I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069238
Gene: ENSMUSG00000030510
AA Change: T182I

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
HOX	110	167	2.48e-2	SMART
TLC	166	367	6.52e-57	SMART
low complexity region	379	391	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208521
AA Change: T146I

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lethal skin barrier disruption defect due to a lack of ultra-long-chain acyl ceramides, impaired stratum corneum desquamation, accelerated lamellar body biogenesis and extrusion, and delayed keratinocyte cornification. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,771,162 (GRCm39)	R117L	probably benign	Het
4930447C04Rik	G	A	12: 72,928,120 (GRCm39)	A537V	possibly damaging	Het
4930579F01Rik	A	C	3: 137,889,517 (GRCm39)	D33E	probably damaging	Het
Acnat1	T	C	4: 49,447,835 (GRCm39)	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,942,295 (GRCm39)	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,135,452 (GRCm39)	E535D	probably benign	Het
Armc8	T	A	9: 99,387,343 (GRCm39)	H425L	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asprv1	C	T	6: 86,605,618 (GRCm39)	Q155*	probably null	Het
Atl1	A	G	12: 69,972,962 (GRCm39)	Q94R	probably benign	Het
Atp2a2	A	G	5: 122,595,440 (GRCm39)	L970P	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bod1l	A	G	5: 41,973,772 (GRCm39)	M2514T	probably benign	Het
Cacfd1	T	A	2: 26,908,951 (GRCm39)	D97E	probably benign	Het
Cacna1e	A	G	1: 154,437,504 (GRCm39)	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,394,615 (GRCm39)	R596S	probably damaging	Het
Catip	C	A	1: 74,403,811 (GRCm39)	S176*	probably null	Het
Cdcp1	G	A	9: 123,002,653 (GRCm39)	S806L	probably damaging	Het
Cdk6	A	T	5: 3,570,675 (GRCm39)	I289L	probably benign	Het
Cfap46	T	A	7: 139,262,924 (GRCm39)	N43I	probably null	Het
Clec4n	A	T	6: 123,206,992 (GRCm39)	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,644,012 (GRCm39)	S30I	probably benign	Het
Col18a1	C	T	10: 76,907,170 (GRCm39)	G870E	probably damaging	Het
Cpne6	T	C	14: 55,752,677 (GRCm39)	V289A	possibly damaging	Het
Crym	G	A	7: 119,796,938 (GRCm39)	L141F	probably benign	Het
Cxxc5	T	C	18: 35,991,622 (GRCm39)	S8P	unknown	Het
Dido1	A	C	2: 180,326,763 (GRCm39)	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,368,028 (GRCm39)	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,535,148 (GRCm39)	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,760,535 (GRCm39)	N1738S	probably damaging	Het
Eri3	A	G	4: 117,439,836 (GRCm39)	T138A	possibly damaging	Het
Ext2	C	T	2: 93,537,632 (GRCm39)	E585K	probably damaging	Het
Fbxw19	T	A	9: 109,324,056 (GRCm39)	S38C	probably damaging	Het
Fcgbpl1	A	T	7: 27,854,917 (GRCm39)	I1848F	probably damaging	Het
Fmo6	G	A	1: 162,753,675 (GRCm39)	P156S	probably damaging	Het
Frem3	A	T	8: 81,339,764 (GRCm39)	I686F	probably benign	Het
Frem3	T	C	8: 81,339,339 (GRCm39)	L544P	probably damaging	Het
Gabra1	T	C	11: 42,031,177 (GRCm39)	Y251C	probably benign	Het
Gemin4	G	T	11: 76,101,987 (GRCm39)	Q925K	probably benign	Het
Gm18856	T	A	13: 14,139,274 (GRCm39)		probably benign	Het
Gnb1	A	T	4: 155,636,171 (GRCm39)	T164S	probably benign	Het
Gpx6	A	G	13: 21,497,822 (GRCm39)	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,367,802 (GRCm39)	I157S	probably benign	Het
Il31ra	T	A	13: 112,684,000 (GRCm39)	N43I	possibly damaging	Het
Irak3	T	C	10: 120,001,035 (GRCm39)	T297A	probably benign	Het
Kank2	T	C	9: 21,685,927 (GRCm39)	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,159,382 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	G	9: 110,275,815 (GRCm39)	F111S	probably damaging	Het
Lratd2	A	G	15: 60,695,498 (GRCm39)	C83R	probably damaging	Het
Lrp5	A	G	19: 3,697,585 (GRCm39)	S319P	possibly damaging	Het
Mettl15	T	C	2: 108,962,010 (GRCm39)		probably null	Het
Mtarc1	T	C	1: 184,534,199 (GRCm39)	E223G	probably damaging	Het
Ncoa1	T	C	12: 4,320,748 (GRCm39)	Q1107R	possibly damaging	Het
Ncoa7	T	G	10: 30,570,207 (GRCm39)	M251L	probably damaging	Het
Nos2	A	T	11: 78,847,396 (GRCm39)	M1023L	probably benign	Het
Nup107	T	C	10: 117,626,399 (GRCm39)	K25E	probably damaging	Het
Or10q1b	A	T	19: 13,682,860 (GRCm39)	Y223F	probably damaging	Het
Or52s1b	A	G	7: 102,822,193 (GRCm39)	I217T	probably damaging	Het
Or5k14	T	A	16: 58,693,261 (GRCm39)	N84I	probably damaging	Het
Or5p58	T	A	7: 107,694,493 (GRCm39)	I95F	probably damaging	Het
Or6b6	A	T	7: 106,571,190 (GRCm39)	Y120*	probably null	Het
Or6c206	T	C	10: 129,097,082 (GRCm39)	I84T	probably damaging	Het
Parm1	G	A	5: 91,742,306 (GRCm39)	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,373,047 (GRCm39)	S2363A	probably damaging	Het
Piezo1	A	G	8: 123,218,142 (GRCm39)	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,370,534 (GRCm39)	M141K	probably benign	Het
Prss29	A	T	17: 25,539,257 (GRCm39)	M1L	possibly damaging	Het
Pter	T	A	2: 12,983,417 (GRCm39)	S141T	probably benign	Het
Ptpru	A	T	4: 131,501,662 (GRCm39)	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,775,159 (GRCm39)	Q66H	probably damaging	Het
Rgs12	A	T	5: 35,178,511 (GRCm39)	T779S	probably damaging	Het
Rgs22	A	G	15: 36,048,922 (GRCm39)	F786S	probably damaging	Het
Rnasel	A	T	1: 153,636,540 (GRCm39)	D640V	possibly damaging	Het
Rp1	T	C	1: 4,415,899 (GRCm39)	T1738A	probably damaging	Het
Sacs	T	C	14: 61,447,508 (GRCm39)	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,315,856 (GRCm39)	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,507,025 (GRCm39)	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,468,690 (GRCm39)	Y111C	probably damaging	Het
Shld2	C	G	14: 33,990,833 (GRCm39)	Q24H	probably damaging	Het
Siglecg	A	G	7: 43,067,313 (GRCm39)	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845 (GRCm39)	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,613,819 (GRCm39)	T88S	possibly damaging	Het
Spire2	T	G	8: 124,084,895 (GRCm39)	L245R	probably damaging	Het
Stard9	C	A	2: 120,527,192 (GRCm39)	P1150T	probably benign	Het
Stat6	C	A	10: 127,489,125 (GRCm39)	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,746,166 (GRCm39)	G162E	probably benign	Het
Surf4	T	C	2: 26,823,710 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,149 (GRCm39)	M1278T	probably benign	Het
Tacr2	T	A	10: 62,097,106 (GRCm39)		probably null	Het
Tcaf1	A	T	6: 42,655,923 (GRCm39)	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,308,718 (GRCm39)	S59P	probably damaging	Het
Tmem17	G	A	11: 22,467,266 (GRCm39)	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,499,753 (GRCm39)	I307N	probably benign	Het
Treml2	A	T	17: 48,609,786 (GRCm39)	T73S	possibly damaging	Het
Trrap	A	G	5: 144,774,012 (GRCm39)	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,302,506 (GRCm39)	I53T	probably damaging	Het
Ugp2	A	G	11: 21,283,791 (GRCm39)	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,644,166 (GRCm39)	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,192,578 (GRCm39)	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,886,828 (GRCm39)	S320T	probably benign	Het
Zbtb16	A	T	9: 48,743,583 (GRCm39)	M243K	probably benign	Het
Zfr	C	T	15: 12,150,329 (GRCm39)	T432I	possibly damaging	Het

Other mutations in Cers3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Cers3	APN	7	66,435,751 (GRCm39)	splice site	probably benign
IGL02832:Cers3	APN	7	66,431,573 (GRCm39)	missense	probably benign	0.00
R0400:Cers3	UTSW	7	66,414,078 (GRCm39)	missense	probably benign	0.03
R0490:Cers3	UTSW	7	66,423,438 (GRCm39)	missense	possibly damaging	0.69
R0558:Cers3	UTSW	7	66,433,166 (GRCm39)	missense	probably damaging	1.00
R0571:Cers3	UTSW	7	66,435,805 (GRCm39)	missense	possibly damaging	0.93
R1452:Cers3	UTSW	7	66,433,152 (GRCm39)	missense	probably damaging	1.00
R1767:Cers3	UTSW	7	66,433,151 (GRCm39)	missense	probably damaging	1.00
R2155:Cers3	UTSW	7	66,433,162 (GRCm39)	missense	probably damaging	0.99
R2427:Cers3	UTSW	7	66,445,541 (GRCm39)	missense	probably benign	0.04
R3705:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R3713:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R3714:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R3715:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R3961:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R3963:Cers3	UTSW	7	66,435,823 (GRCm39)	missense	probably benign	0.25
R4238:Cers3	UTSW	7	66,423,424 (GRCm39)	missense	probably damaging	1.00
R4652:Cers3	UTSW	7	66,431,604 (GRCm39)	splice site	probably null
R5174:Cers3	UTSW	7	66,434,616 (GRCm39)	missense	probably damaging	1.00
R6493:Cers3	UTSW	7	66,393,468 (GRCm39)	missense	probably benign	0.07
R6675:Cers3	UTSW	7	66,435,844 (GRCm39)	missense	possibly damaging	0.50
R6807:Cers3	UTSW	7	66,413,968 (GRCm39)	missense	probably damaging	1.00
R6833:Cers3	UTSW	7	66,429,419 (GRCm39)	critical splice donor site	probably null
R7223:Cers3	UTSW	7	66,433,163 (GRCm39)	missense	probably damaging	0.99
R7592:Cers3	UTSW	7	66,439,377 (GRCm39)	missense	probably damaging	1.00
R7835:Cers3	UTSW	7	66,423,387 (GRCm39)	missense	possibly damaging	0.79
R8202:Cers3	UTSW	7	66,435,761 (GRCm39)	missense	probably damaging	0.99
R8322:Cers3	UTSW	7	66,439,386 (GRCm39)	missense	probably damaging	1.00
R8350:Cers3	UTSW	7	66,414,090 (GRCm39)	missense	possibly damaging	0.54
R8450:Cers3	UTSW	7	66,414,090 (GRCm39)	missense	possibly damaging	0.54
R8757:Cers3	UTSW	7	66,435,850 (GRCm39)	missense	probably damaging	1.00
R8759:Cers3	UTSW	7	66,435,850 (GRCm39)	missense	probably damaging	1.00
R9149:Cers3	UTSW	7	66,393,442 (GRCm39)	missense	probably benign	0.07
R9712:Cers3	UTSW	7	66,423,378 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2014-04-13