Mutagenetix > Incidental Mutation

Incidental Mutation 'R6247:Cers5'

505733

Institutional Source

Beutler Lab

Gene Symbol

Cers5

Ensembl Gene

ENSMUSG00000023021

Gene Name

ceramide synthase 5

Synonyms

2310081H14Rik, CerS5, Lass5, Trh4

MMRRC Submission

044366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99633473-99670396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99643805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 153 (C153S)

Ref Sequence

ENSEMBL: ENSMUSP00000104663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023762] [ENSMUST00000109035] [ENSMUST00000175876] [ENSMUST00000176248] [ENSMUST00000176627]

AlphaFold

Q9D6K9

PDB Structure

Solution structure of RSGI RUH-034, a homeodomain from mouse cDNA [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000023762
AA Change: C153S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021
AA Change: C153S

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Blast:TLC	24	66	9e-17	BLAST
HOX	78	140	5.6e-2	SMART
TLC	139	340	4.35e-76	SMART
low complexity region	343	361	N/A	INTRINSIC
low complexity region	366	382	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109035
AA Change: C153S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021
AA Change: C153S

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Blast:TLC	24	66	6e-17	BLAST
HOX	78	140	5.6e-2	SMART
TLC	139	340	4.35e-76	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175876
AA Change: C104S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021
AA Change: C104S

Domain	Start	End	E-Value	Type
HOX	29	91	5.6e-2	SMART
TLC	90	241	1.29e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176248
AA Change: C153S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000135074
Gene: ENSMUSG00000023021
AA Change: C153S

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Blast:TLC	24	66	9e-18	BLAST
HOX	78	140	2.8e-4	SMART
TLC	139	251	1.7e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176627

SMART Domains

Protein: ENSMUSP00000134988
Gene: ENSMUSG00000023021

Domain	Start	End	E-Value	Type
HOX	27	89	5.6e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000176970
AA Change: C19S

SMART Domains

Protein: ENSMUSP00000135723
Gene: ENSMUSG00000023021
AA Change: C19S

Domain	Start	End	E-Value	Type
TLC	1	153	3.49e-25	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,049,768 (GRCm39)	D871G	probably benign	Het
A4galt	G	T	15: 83,112,020 (GRCm39)	H254Q	probably damaging	Het
AA986860	C	A	1: 130,670,780 (GRCm39)	T334K	possibly damaging	Het
Abca13	T	C	11: 9,353,874 (GRCm39)	I3732T	probably benign	Het
Abcf1	C	T	17: 36,271,956 (GRCm39)	D353N	probably damaging	Het
Adss1	A	G	12: 112,594,790 (GRCm39)	H83R	probably damaging	Het
Amer2	C	A	14: 60,616,321 (GRCm39)	A172E	probably damaging	Het
Ankhd1	A	G	18: 36,787,199 (GRCm39)	T2300A	probably benign	Het
Ano5	G	A	7: 51,215,879 (GRCm39)		probably null	Het
Apob	G	A	12: 8,051,801 (GRCm39)	G1109D	probably damaging	Het
Arhgef26	A	T	3: 62,288,381 (GRCm39)	N484Y	probably damaging	Het
C6	A	G	15: 4,793,023 (GRCm39)	D376G	probably damaging	Het
Caml	T	C	13: 55,772,986 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,077 (GRCm39)	L473S	probably benign	Het
Cdk6	G	A	5: 3,394,553 (GRCm39)		probably null	Het
Cfap206	T	C	4: 34,692,530 (GRCm39)	M499V	probably benign	Het
Chd6	A	G	2: 160,791,968 (GRCm39)	M2463T	probably damaging	Het
Chn1	T	C	2: 73,537,350 (GRCm39)	E58G	possibly damaging	Het
Clec4a1	T	C	6: 122,905,001 (GRCm39)	V100A	probably benign	Het
Col7a1	G	C	9: 108,810,130 (GRCm39)		probably benign	Het
Csmd1	A	G	8: 16,246,249 (GRCm39)	V1050A	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd5a	A	T	7: 109,497,889 (GRCm39)	C1044S	probably damaging	Het
Dnah7b	A	G	1: 46,265,048 (GRCm39)	T2181A	probably benign	Het
Dnai1	T	C	4: 41,605,775 (GRCm39)	V255A	probably benign	Het
Dync2h1	A	G	9: 7,135,078 (GRCm39)	C1518R	probably damaging	Het
Dysf	T	C	6: 84,043,981 (GRCm39)	V273A	probably damaging	Het
Eif1	C	T	11: 100,211,223 (GRCm39)		probably benign	Het
Eml3	T	C	19: 8,908,313 (GRCm39)	I58T	probably benign	Het
Fam171b	T	A	2: 83,709,552 (GRCm39)	I408N	probably damaging	Het
Fchsd2	A	G	7: 100,902,747 (GRCm39)	E351G	probably benign	Het
Focad	G	A	4: 88,325,377 (GRCm39)	A81T	possibly damaging	Het
Fpr-rs4	G	A	17: 18,242,748 (GRCm39)	V252I	probably benign	Het
Fryl	A	G	5: 73,222,824 (GRCm39)	L1919P	probably damaging	Het
Gm12185	C	T	11: 48,806,735 (GRCm39)	R152H	probably damaging	Het
Gm14410	C	T	2: 176,885,517 (GRCm39)	G249E	probably damaging	Het
Gm6685	A	T	11: 28,289,706 (GRCm39)	S37T	possibly damaging	Het
Greb1	G	A	12: 16,766,676 (GRCm39)	P374L	probably damaging	Het
Hdac4	A	T	1: 91,940,560 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,409,010 (GRCm39)	L1099*	probably null	Het
Hivep1	T	C	13: 42,310,966 (GRCm39)	S1069P	probably benign	Het
Itgad	T	C	7: 127,784,959 (GRCm39)	I288T	possibly damaging	Het
Kif9	A	G	9: 110,317,612 (GRCm39)	M96V	possibly damaging	Het
Kncn	T	A	4: 115,741,987 (GRCm39)	V18E	probably damaging	Het
Lrrc74a	G	A	12: 86,805,330 (GRCm39)	G384D	probably damaging	Het
Ltb4r2	T	C	14: 56,000,108 (GRCm39)	V243A	probably damaging	Het
Mtnr1b	T	A	9: 15,774,082 (GRCm39)	I326L	probably benign	Het
Mylip	C	T	13: 45,561,957 (GRCm39)	T253I	probably damaging	Het
Necap1	T	A	6: 122,857,611 (GRCm39)		probably null	Het
Nedd4	C	T	9: 72,633,720 (GRCm39)	P409S	probably damaging	Het
Npat	A	T	9: 53,456,538 (GRCm39)	E36D	probably damaging	Het
Ovch2	C	T	7: 107,384,648 (GRCm39)	V490M	probably damaging	Het
Pax9	T	C	12: 56,756,480 (GRCm39)	S273P	probably benign	Het
Plce1	A	G	19: 38,734,289 (GRCm39)	E1563G	probably damaging	Het
Podxl2	C	A	6: 88,826,299 (GRCm39)	G336*	probably null	Het
Prdm1	A	G	10: 44,322,782 (GRCm39)		probably null	Het
Psme4	T	C	11: 30,803,245 (GRCm39)	I29T	possibly damaging	Het
Ptprd	A	T	4: 75,984,528 (GRCm39)	D780E	probably benign	Het
Retsat	T	C	6: 72,581,918 (GRCm39)	M294T	probably benign	Het
Robo2	A	T	16: 73,764,672 (GRCm39)	V652D	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Serpinb3d	G	T	1: 107,010,490 (GRCm39)	T66K	probably benign	Het
Setd1b	A	T	5: 123,296,461 (GRCm39)		probably benign	Het
Slc7a10	G	T	7: 34,886,012 (GRCm39)	A36S	possibly damaging	Het
Sstr3	T	A	15: 78,423,788 (GRCm39)	I320F	probably damaging	Het
Syne1	G	T	10: 5,299,071 (GRCm39)	A1005E	probably damaging	Het
Syngap1	C	A	17: 27,181,931 (GRCm39)	S975*	probably null	Het
Tinagl1	C	T	4: 130,066,725 (GRCm39)	C124Y	probably null	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Tmed2	T	A	5: 124,685,055 (GRCm39)	I68K	possibly damaging	Het
Tmem104	A	G	11: 115,134,819 (GRCm39)	T451A	probably benign	Het
Tmem141	T	C	2: 25,511,693 (GRCm39)		probably null	Het
Tmem184a	C	A	5: 139,798,827 (GRCm39)	V41L	probably benign	Het
Tmem39b	C	T	4: 129,580,584 (GRCm39)	V303I	possibly damaging	Het
Tsn	T	C	1: 118,232,939 (GRCm39)	I122V	probably benign	Het
Ttc41	G	T	10: 86,612,527 (GRCm39)	V1267L	probably benign	Het
Uggt1	A	T	1: 36,202,309 (GRCm39)	L1096Q	probably damaging	Het
Usp50	A	T	2: 126,617,713 (GRCm39)	I244N	probably benign	Het
Vil1	A	G	1: 74,471,498 (GRCm39)	S760G	probably benign	Het
Wasf1	T	A	10: 40,813,741 (GRCm39)	V541E	unknown	Het
Zc3h13	G	T	14: 75,581,176 (GRCm39)	S1721I	probably benign	Het
Zfp180	G	T	7: 23,804,530 (GRCm39)	K316N	probably damaging	Het
Zfp582	T	C	7: 6,356,945 (GRCm39)	C253R	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp759	A	G	13: 67,288,524 (GRCm39)	T692A	probably benign	Het
Zfyve26	A	G	12: 79,329,758 (GRCm39)	V476A	probably benign	Het

Other mutations in Cers5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Cers5	APN	15	99,637,536 (GRCm39)	nonsense	probably null
coleman	UTSW	15	99,649,119 (GRCm39)	nonsense	probably null
R0178:Cers5	UTSW	15	99,644,905 (GRCm39)	splice site	probably benign
R0483:Cers5	UTSW	15	99,643,795 (GRCm39)	missense	probably damaging	1.00
R0589:Cers5	UTSW	15	99,638,837 (GRCm39)	missense	probably damaging	1.00
R1433:Cers5	UTSW	15	99,643,812 (GRCm39)	nonsense	probably null
R1757:Cers5	UTSW	15	99,634,212 (GRCm39)	missense	probably benign	0.31
R2520:Cers5	UTSW	15	99,634,262 (GRCm39)	missense	probably damaging	0.97
R3008:Cers5	UTSW	15	99,670,598 (GRCm39)	unclassified	probably benign
R3010:Cers5	UTSW	15	99,670,598 (GRCm39)	unclassified	probably benign
R3011:Cers5	UTSW	15	99,670,598 (GRCm39)	unclassified	probably benign
R4379:Cers5	UTSW	15	99,649,134 (GRCm39)	missense	probably damaging	1.00
R4732:Cers5	UTSW	15	99,639,518 (GRCm39)	missense	probably benign	0.38
R4733:Cers5	UTSW	15	99,639,518 (GRCm39)	missense	probably benign	0.38
R4911:Cers5	UTSW	15	99,644,960 (GRCm39)	missense	probably damaging	1.00
R5441:Cers5	UTSW	15	99,649,119 (GRCm39)	nonsense	probably null
R6089:Cers5	UTSW	15	99,638,883 (GRCm39)	missense	probably benign	0.01
R6161:Cers5	UTSW	15	99,636,544 (GRCm39)	critical splice donor site	probably null
R6300:Cers5	UTSW	15	99,670,100 (GRCm39)	missense	probably damaging	1.00
R6312:Cers5	UTSW	15	99,644,996 (GRCm39)	missense	probably benign	0.11
R6861:Cers5	UTSW	15	99,670,244 (GRCm39)	unclassified	probably benign
R7780:Cers5	UTSW	15	99,637,589 (GRCm39)	missense	probably damaging	1.00
R7800:Cers5	UTSW	15	99,634,122 (GRCm39)	missense	probably benign	0.02
R7843:Cers5	UTSW	15	99,670,212 (GRCm39)	missense	unknown
R7995:Cers5	UTSW	15	99,638,823 (GRCm39)	critical splice donor site	probably null
R8491:Cers5	UTSW	15	99,638,831 (GRCm39)	missense	probably damaging	1.00
R8789:Cers5	UTSW	15	99,637,551 (GRCm39)	missense	possibly damaging	0.88
R9325:Cers5	UTSW	15	99,637,338 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTTAAGGAAACATACTGGCCTC -3'
(R):5'- TGGGACTCCGTGAACAAAG -3'

Sequencing Primer
(F):5'- TAAGGAAACATACTGGCCTCTGCTG -3'
(R):5'- TCCGTGAACAAAGATTCAAAGCTG -3'

Posted On

2018-02-28