Mutagenetix > Incidental Mutation

Incidental Mutation 'R5723:Cers6'

452306

Institutional Source

Beutler Lab

Gene Symbol

Cers6

Ensembl Gene

ENSMUSG00000027035

Gene Name

ceramide synthase 6

Synonyms

similar to TRH1, CerS6, T1L, Lass6, 4732462C07Rik

MMRRC Submission

043341-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R5723 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

68691785-68944626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68938789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 344 (S344T)

Ref Sequence

ENSEMBL: ENSMUSP00000135604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028426] [ENSMUST00000176018]

AlphaFold

Q8C172

Predicted Effect

probably benign
Transcript: ENSMUST00000028426
AA Change: S336T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028426
Gene: ENSMUSG00000027035
AA Change: S336T

Domain	Start	End	E-Value	Type
Blast:TLC	10	57	6e-7	BLAST
HOX	73	131	2.92e-2	SMART
TLC	130	331	1.21e-74	SMART
low complexity region	336	353	N/A	INTRINSIC
low complexity region	361	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176018
AA Change: S344T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135604
Gene: ENSMUSG00000027035
AA Change: S344T

Domain	Start	End	E-Value	Type
Blast:TLC	10	57	7e-7	BLAST
HOX	73	131	2.92e-2	SMART
TLC	130	331	1.21e-74	SMART
low complexity region	344	361	N/A	INTRINSIC
low complexity region	369	381	N/A	INTRINSIC

Meta Mutation Damage Score

0.0837

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (57/58)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knockout allele exhibit hind limb clasping, habituation deficit and altered lipid homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,844,445 (GRCm39)	D862G	possibly damaging	Het
Abcg2	C	T	6: 58,655,336 (GRCm39)	Q109*	probably null	Het
Acbd7	A	G	2: 3,341,455 (GRCm39)	Y33C	probably damaging	Het
Actl7a	A	G	4: 56,744,310 (GRCm39)	D279G	probably damaging	Het
Akr1c18	A	T	13: 4,194,328 (GRCm39)	Y110*	probably null	Het
Akt1	T	C	12: 112,623,704 (GRCm39)	K276E	probably damaging	Het
Bcas2	A	G	3: 103,084,608 (GRCm39)		probably benign	Het
C9	T	A	15: 6,516,297 (GRCm39)	Y367N	probably damaging	Het
Cd163	A	G	6: 124,296,022 (GRCm39)	T789A	probably benign	Het
Clcn4	A	G	7: 7,294,681 (GRCm39)	V329A	probably damaging	Het
Crisp3	A	C	17: 40,546,804 (GRCm39)	V38G	probably damaging	Het
Cyp2b23	A	G	7: 26,380,821 (GRCm39)	F135L	probably benign	Het
Cyrib	A	T	15: 63,828,447 (GRCm39)		probably null	Het
Ddr2	A	T	1: 169,816,089 (GRCm39)	C539*	probably null	Het
Efna5	T	A	17: 62,914,458 (GRCm39)	D189V	probably damaging	Het
Endov	G	T	11: 119,390,675 (GRCm39)	V70F	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem3	A	T	8: 81,340,026 (GRCm39)	H773L	probably benign	Het
Gm43302	T	A	5: 105,365,352 (GRCm39)	Q552L	possibly damaging	Het
Gramd1a	A	T	7: 30,833,908 (GRCm39)	W506R	probably damaging	Het
Hmcn1	C	T	1: 150,570,600 (GRCm39)	V2188I	possibly damaging	Het
Ifit1bl2	A	G	19: 34,597,458 (GRCm39)	F53L	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif5a	GGGTTGGT	GGGT	10: 127,066,898 (GRCm39)		probably null	Het
Krt16	A	G	11: 100,139,272 (GRCm39)	Y149H	probably damaging	Het
Krtap5-2	A	T	7: 141,728,742 (GRCm39)	C313S	unknown	Het
Mreg	A	G	1: 72,201,527 (GRCm39)	I155T	probably damaging	Het
Nans	T	C	4: 46,499,083 (GRCm39)	F130S	probably benign	Het
Nox4	T	C	7: 86,954,181 (GRCm39)		probably benign	Het
Or3a1d	C	A	11: 74,237,954 (GRCm39)	W32L	possibly damaging	Het
Or52ad1	A	T	7: 102,995,826 (GRCm39)	M103K	possibly damaging	Het
Or56a3	C	A	7: 104,740,309 (GRCm39)	C179F	probably damaging	Het
Or5k15	A	T	16: 58,709,976 (GRCm39)	Y202*	probably null	Het
Pgap6	CGGGG	CGGGGG	17: 26,339,536 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,784,497 (GRCm39)	T348A	probably benign	Het
Poteg	T	C	8: 27,940,020 (GRCm39)		probably null	Het
Prom1	T	G	5: 44,172,236 (GRCm39)	N585T	probably benign	Het
Rfc1	T	C	5: 65,434,769 (GRCm39)	S666G	probably null	Het
Rilp	A	G	11: 75,403,687 (GRCm39)		probably benign	Het
Serpina3i	A	G	12: 104,231,759 (GRCm39)	E132G	probably benign	Het
Serpina3m	T	C	12: 104,360,170 (GRCm39)	V414A	probably damaging	Het
Sfrp4	T	C	13: 19,807,868 (GRCm39)	F89S	probably damaging	Het
Stat5a	A	G	11: 100,772,900 (GRCm39)	H692R	probably benign	Het
Tex29	A	T	8: 11,904,279 (GRCm39)		probably benign	Het
Tmc5	T	A	7: 118,271,416 (GRCm39)	F910I	probably damaging	Het
Tusc3	G	A	8: 39,538,651 (GRCm39)	G230D	possibly damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Upb1	A	T	10: 75,264,105 (GRCm39)	I184F	probably damaging	Het
Vamp4	T	C	1: 162,401,932 (GRCm39)	F5L	possibly damaging	Het
Zfp583	C	A	7: 6,326,674 (GRCm39)	Q68H	probably damaging	Het
Zfp831	A	C	2: 174,487,200 (GRCm39)	H625P	probably benign	Het
Zfp941	G	A	7: 140,392,763 (GRCm39)		probably benign	Het

Other mutations in Cers6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02513:Cers6	APN	2	68,899,013 (GRCm39)	missense	probably benign
IGL02897:Cers6	APN	2	68,764,877 (GRCm39)	nonsense	probably null
IGL03299:Cers6	APN	2	68,692,128 (GRCm39)	missense	probably benign	0.17
R0520:Cers6	UTSW	2	68,935,435 (GRCm39)	nonsense	probably null
R1280:Cers6	UTSW	2	68,899,033 (GRCm39)	missense	probably benign	0.06
R2497:Cers6	UTSW	2	68,901,790 (GRCm39)	splice site	probably benign
R4843:Cers6	UTSW	2	68,899,003 (GRCm39)	missense	probably benign	0.03
R4931:Cers6	UTSW	2	68,935,456 (GRCm39)	missense	probably damaging	0.98
R5973:Cers6	UTSW	2	68,898,969 (GRCm39)	splice site	probably null
R6058:Cers6	UTSW	2	68,692,008 (GRCm39)	missense	probably benign	0.12
R6453:Cers6	UTSW	2	68,877,513 (GRCm39)	missense	probably benign	0.00
R6788:Cers6	UTSW	2	68,938,903 (GRCm39)	missense	possibly damaging	0.95
R7493:Cers6	UTSW	2	68,692,151 (GRCm39)	critical splice donor site	probably null
R8055:Cers6	UTSW	2	68,777,625 (GRCm39)	missense	probably damaging	1.00
R8364:Cers6	UTSW	2	68,692,083 (GRCm39)	missense	possibly damaging	0.50
R8399:Cers6	UTSW	2	68,692,115 (GRCm39)	missense	probably benign	0.00
R9256:Cers6	UTSW	2	68,777,706 (GRCm39)	splice site	probably benign
R9670:Cers6	UTSW	2	68,833,114 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTGTGAAGAAGGGACCTTG -3'
(R):5'- TCATGAAAGGAACTGCATTTGC -3'

Sequencing Primer
(F):5'- CTGTGAAGAAGGGACCTTGCTACC -3'
(R):5'- CAAACAGTTCCCTTTGTTCAGAAC -3'

Posted On

2017-01-03