Mutagenetix > Incidental Mutation

Incidental Mutation 'R4843:Cers6'

371974

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

042456-MU

Accession Numbers

Essential gene?

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

Stock #

R4843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68691785-68944626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68899003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 214 (A214T)

Ref Sequence

ENSEMBL: ENSMUSP00000028426 (fasta)

Gene Model

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

AlphaFold

Q8C172

PDB Structure

Solution structure of the homeobox domain of mouse LAG1 longevity assurance homolog 6 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000028426
AA Change: A214T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028426
Gene: ENSMUSG00000027035
AA Change: A214T

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

noncoding transcript
Transcript: ENSMUST00000175684

Predicted Effect

probably benign
Transcript: ENSMUST00000176018
AA Change: A214T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135604
Gene: ENSMUSG00000027035
AA Change: A214T

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

95% (58/61)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	T	A	12: 30,946,144 (GRCm39)	K124*	probably null	Het
Actl11	G	T	9: 107,806,691 (GRCm39)	C338F	possibly damaging	Het
Adam5	G	A	8: 25,303,552 (GRCm39)	S125F	probably damaging	Het
Ap2s1	C	A	7: 16,477,271 (GRCm39)	A44D	possibly damaging	Het
AW554918	T	C	18: 25,473,057 (GRCm39)	V84A	probably benign	Het
Bsn	G	A	9: 107,984,388 (GRCm39)	T3222M	unknown	Het
Car15	A	G	16: 17,654,472 (GRCm39)	Y155H	possibly damaging	Het
Cdca2	G	T	14: 67,914,425 (GRCm39)	P945T	probably damaging	Het
Cdh16	A	G	8: 105,348,172 (GRCm39)	F182L	probably damaging	Het
Ces1g	A	T	8: 94,057,893 (GRCm39)	M136K	probably damaging	Het
Cnppd1	A	G	1: 75,113,086 (GRCm39)	V394A	probably benign	Het
Cyp3a59	A	T	5: 146,033,071 (GRCm39)	I148F	possibly damaging	Het
Dnah1	G	A	14: 30,986,920 (GRCm39)	A3624V	probably damaging	Het
Exoc3l4	T	C	12: 111,394,487 (GRCm39)		probably benign	Het
Fap	G	T	2: 62,374,718 (GRCm39)	P227Q	probably damaging	Het
Fbxw10	G	A	11: 62,738,151 (GRCm39)	R15H	possibly damaging	Het
Gm11011	T	C	2: 169,429,240 (GRCm39)		probably benign	Het
Gm11146	A	C	16: 77,392,144 (GRCm39)		probably benign	Het
Grip1	G	A	10: 119,765,920 (GRCm39)	R84Q	probably damaging	Het
Hipk2	A	G	6: 38,796,192 (GRCm39)	C19R	possibly damaging	Het
Hmgcll1	A	G	9: 75,979,916 (GRCm39)	D102G	possibly damaging	Het
Ighv16-1	A	T	12: 114,032,504 (GRCm39)	Y99*	probably null	Het
Kank1	T	G	19: 25,408,371 (GRCm39)	S1283R	probably damaging	Het
Kcnip1	T	A	11: 33,594,504 (GRCm39)	H95L	probably benign	Het
L3mbtl3	A	T	10: 26,207,777 (GRCm39)	L314Q	unknown	Het
Marveld3	C	A	8: 110,688,702 (GRCm39)	R13L	possibly damaging	Het
Mtrf1l	G	T	10: 5,773,696 (GRCm39)	P23Q	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5p69	G	A	7: 107,967,350 (GRCm39)	A218T	probably benign	Het
Or6c1b	G	T	10: 129,273,316 (GRCm39)	V212L	probably benign	Het
Paqr7	A	G	4: 134,234,278 (GRCm39)	Y45C	probably damaging	Het
Plod3	G	A	5: 137,019,854 (GRCm39)	W428*	probably null	Het
Pnisr	T	A	4: 21,857,400 (GRCm39)		probably benign	Het
Ppip5k1	C	A	2: 121,157,368 (GRCm39)	R1046L	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Prmt5	A	T	14: 54,753,582 (GRCm39)	I99N	probably benign	Het
Ripk2	T	C	4: 16,155,073 (GRCm39)	T149A	probably damaging	Het
Rpf2	C	A	10: 40,122,998 (GRCm39)		probably benign	Het
Rtf1	T	A	2: 119,536,017 (GRCm39)	D190E	possibly damaging	Het
Shank2	T	A	7: 143,585,146 (GRCm39)	M49K	probably benign	Het
Snd1	T	G	6: 28,668,642 (GRCm39)	V443G	probably damaging	Het
Spag9	T	C	11: 93,988,644 (GRCm39)	F555L	probably damaging	Het
Srfbp1	A	G	18: 52,621,749 (GRCm39)	K270R	probably benign	Het
Tenm2	T	A	11: 35,914,847 (GRCm39)	N2230I	probably damaging	Het
Tmem106a	T	C	11: 101,477,021 (GRCm39)		probably benign	Het
Tpsg1	A	T	17: 25,589,591 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,195,146 (GRCm39)	S1057G	probably benign	Het
Unc13d	G	A	11: 115,965,085 (GRCm39)	T220M	probably damaging	Het
Vmn1r68	T	C	7: 10,261,904 (GRCm39)	T65A	probably benign	Het
Vps50	T	C	6: 3,536,974 (GRCm39)		probably null	Het
Washc5	A	G	15: 59,222,220 (GRCm39)	I85T	possibly damaging	Het
Zfp677	C	T	17: 21,612,788 (GRCm39)	T2I	probably benign	Het
Zxdc	A	G	6: 90,359,254 (GRCm39)	T629A	probably damaging	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
R4931:Cers6	UTSW	2	68,935,456 (GRCm39)	missense	probably damaging	0.98
R5723:Cers6	UTSW	2	68,938,789 (GRCm39)	missense	probably benign	0.03
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'- GGAGTTGTATCTTAACCACCAAAG -3'
(R):5'- TTGCCAATTTAACCCACTAAGC -3'

Sequencing Primer
(F):5'- GAACACCAATGCTATGGCTGTG -3'
(R):5'- CGACAGCTGATAGTTTCAAAGC -3'

Posted On

2016-03-01