Mutagenetix > Incidental Mutations

Incidental Mutation 'R6161:Cers5'

489893

Institutional Source

Beutler Lab

Gene Symbol

Cers5

Ensembl Gene

ENSMUSG00000023021

Gene Name

ceramide synthase 5

Synonyms

CerS5, Trh4, 2310081H14Rik, Lass5

MMRRC Submission

044308-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99734881-99772885 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 99738663 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000023762

SMART Domains

Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021

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 null
Transcript: ENSMUST00000109035

SMART Domains

Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021

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

SMART Domains

Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021

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

SMART Domains

Protein: ENSMUSP00000135074
Gene: ENSMUSG00000023021

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 null
Transcript: ENSMUST00000176970

SMART Domains

Protein: ENSMUSP00000135723
Gene: ENSMUSG00000023021

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,540,711	K1533M	probably damaging	Het
Aldh1l2	C	T	10: 83,520,338	V63I	probably benign	Het
Atr	A	G	9: 95,865,319	H218R	probably benign	Het
Atxn7l1	T	A	12: 33,358,663	S275T	possibly damaging	Het
Cacna1c	T	C	6: 119,057,302	K88R	probably damaging	Het
Ccl7	T	C	11: 82,046,586	Y49H	probably damaging	Het
Cd3eap	G	A	7: 19,357,633	T183I	possibly damaging	Het
Chuk	T	C	19: 44,082,637	E543G	probably damaging	Het
Dip2c	T	C	13: 9,647,007	V1318A	probably damaging	Het
Ercc5	A	G	1: 44,167,352	H475R	probably benign	Het
Fat3	A	G	9: 16,377,522	L235P	probably damaging	Het
Fbn1	A	T	2: 125,369,801	C892*	probably null	Het
Fbxw8	T	C	5: 118,092,675	T354A	possibly damaging	Het
Fsip2	A	C	2: 82,987,257	T4445P	possibly damaging	Het
Gpld1	A	T	13: 24,971,414	Q344L	probably benign	Het
Hao1	A	T	2: 134,505,625	D253E	probably benign	Het
Hmcn2	A	G	2: 31,356,254	D745G	probably benign	Het
Kcnt1	A	G	2: 25,903,385	T658A	probably benign	Het
Klhl35	A	G	7: 99,473,337		probably benign	Het
Lnx2	C	T	5: 147,042,026		probably null	Het
Map3k5	T	C	10: 20,000,575	V160A	probably damaging	Het
Masp2	A	T	4: 148,614,012	I517F	possibly damaging	Het
Mc4r	A	T	18: 66,859,180	Y287*	probably null	Het
Mthfr	A	G	4: 148,041,754	D94G	probably benign	Het
Muc16	A	G	9: 18,647,818	I2393T	unknown	Het
Mybbp1a	G	T	11: 72,446,012	V557L	probably damaging	Het
Mycbp2	A	T	14: 103,298,747	W256R	probably damaging	Het
Nacad	G	A	11: 6,600,902	S763L	probably benign	Het
Nebl	A	G	2: 17,730,830	V11A	probably benign	Het
Notch1	A	T	2: 26,468,731	C1363S	probably damaging	Het
Nphp3	A	G	9: 104,031,906	N772D	probably benign	Het
Nqo2	G	A	13: 33,979,651	V98M	probably damaging	Het
Pak4	A	G	7: 28,565,267	I70T	possibly damaging	Het
Pbx2	A	G	17: 34,593,600	K2E	probably damaging	Het
Pikfyve	A	G	1: 65,216,043	T352A	probably benign	Het
Pop1	T	C	15: 34,526,310	Y684H	probably damaging	Het
Rpa1	A	G	11: 75,314,895	V212A	probably damaging	Het
Rpap2	A	G	5: 107,620,670	E458G	probably damaging	Het
Sin3a	T	C	9: 57,095,424	V200A	possibly damaging	Het
Sla	T	C	15: 66,782,598	T280A	probably null	Het
Slc22a26	A	T	19: 7,786,447	I406K	possibly damaging	Het
Slc24a1	T	C	9: 64,937,263	N606S	unknown	Het
Slc39a10	G	A	1: 46,827,407	T443M	probably damaging	Het
Smg1	A	T	7: 118,163,330		probably benign	Het
Sra1	G	A	18: 36,670,283	A9V	probably damaging	Het
Stard4	A	G	18: 33,209,056	V47A	probably damaging	Het
Stat4	A	T	1: 52,074,677	D182V	possibly damaging	Het
Syt1	A	G	10: 108,631,807	F210L	probably damaging	Het
Ube2q1	T	A	3: 89,781,360		probably null	Het
Vmn1r159	C	T	7: 22,843,187	C140Y	possibly damaging	Het
Wnt8a	T	C	18: 34,545,546	F138L	possibly damaging	Het
Zfp623	T	A	15: 75,948,621	D475E	probably benign	Het
Zfp646	C	T	7: 127,878,725	R25W	probably damaging	Het

Other mutations in Cers5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Cers5	APN	15	99739655	nonsense	probably null
coleman	UTSW	15	99751238	nonsense	probably null
R0178:Cers5	UTSW	15	99747024	splice site	probably benign
R0483:Cers5	UTSW	15	99745914	missense	probably damaging	1.00
R0589:Cers5	UTSW	15	99740956	missense	probably damaging	1.00
R1433:Cers5	UTSW	15	99745931	nonsense	probably null
R1757:Cers5	UTSW	15	99736331	missense	probably benign	0.31
R2520:Cers5	UTSW	15	99736381	missense	probably damaging	0.97
R3008:Cers5	UTSW	15	99772717	unclassified	probably benign
R3010:Cers5	UTSW	15	99772717	unclassified	probably benign
R3011:Cers5	UTSW	15	99772717	unclassified	probably benign
R4379:Cers5	UTSW	15	99751253	missense	probably damaging	1.00
R4732:Cers5	UTSW	15	99741637	missense	probably benign	0.38
R4733:Cers5	UTSW	15	99741637	missense	probably benign	0.38
R4911:Cers5	UTSW	15	99747079	missense	probably damaging	1.00
R5441:Cers5	UTSW	15	99751238	nonsense	probably null
R6089:Cers5	UTSW	15	99741002	missense	probably benign	0.01
R6247:Cers5	UTSW	15	99745924	missense	probably benign	0.03
R6300:Cers5	UTSW	15	99772219	missense	probably damaging	1.00
R6312:Cers5	UTSW	15	99747115	missense	probably benign	0.11
R6861:Cers5	UTSW	15	99772363	unclassified	probably benign
R7780:Cers5	UTSW	15	99739708	missense	probably damaging	1.00
R7800:Cers5	UTSW	15	99736241	missense	probably benign	0.02
R7843:Cers5	UTSW	15	99772331	missense	unknown
R7926:Cers5	UTSW	15	99772331	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGCCAGTTTGTATGCTCAGC -3'
(R):5'- CTCCTTGTTCTAGGATTCTGAACAC -3'

Sequencing Primer
(F):5'- CAGGGTTTACAGGTATACATACGCC -3'
(R):5'- CAACCCTCTTTGAAAGCTGGGAG -3'

Posted On

2017-10-10