Mutagenetix > Incidental Mutation

Incidental Mutation 'R2520:Cers5'

254415

Institutional Source

Beutler Lab

Gene Symbol

Cers5

Ensembl Gene

ENSMUSG00000023021

Gene Name

ceramide synthase 5

Synonyms

2310081H14Rik, CerS5, Lass5, Trh4

MMRRC Submission

040424-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99633473-99670396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99634262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 362 (T362I)

Ref Sequence

ENSEMBL: ENSMUSP00000023762 (fasta)

Gene Model

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

AlphaFold

Q9D6K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023762
AA Change: T362I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021
AA Change: T362I

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

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 benign
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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	T	5: 3,625,773 (GRCm39)	N70I	probably damaging	Het
4930503B20Rik	G	A	3: 146,356,261 (GRCm39)	R216W	probably damaging	Het
Abcb9	C	T	5: 124,218,091 (GRCm39)		probably null	Het
Arhgdia	A	T	11: 120,470,852 (GRCm39)	V72E	probably damaging	Het
Arsb	A	T	13: 94,077,207 (GRCm39)	K525*	probably null	Het
Bckdha	A	C	7: 25,341,124 (GRCm39)	I79S	probably benign	Het
Carm1	G	A	9: 21,494,893 (GRCm39)		probably null	Het
Clec4b2	T	A	6: 123,177,942 (GRCm39)	F86I	probably damaging	Het
Crispld1	G	A	1: 17,821,000 (GRCm39)	D347N	probably damaging	Het
Csf3r	A	T	4: 125,929,145 (GRCm39)	T352S	probably benign	Het
Daam2	G	A	17: 49,787,785 (GRCm39)	Q443*	probably null	Het
Dcbld1	A	G	10: 52,195,641 (GRCm39)	D283G	probably damaging	Het
Dpp9	T	C	17: 56,513,868 (GRCm39)	E82G	probably damaging	Het
Dync1li1	A	G	9: 114,518,074 (GRCm39)	D42G	probably null	Het
Eml6	T	C	11: 29,741,993 (GRCm39)	H1130R	probably damaging	Het
Enox1	A	T	14: 77,819,839 (GRCm39)	Y198F	probably damaging	Het
Epop	A	G	11: 97,519,554 (GRCm39)	L185P	probably benign	Het
Frem1	A	T	4: 82,868,527 (GRCm39)	C1485S	probably damaging	Het
Gbf1	T	A	19: 46,253,806 (GRCm39)	S571T	probably benign	Het
Gm5965	A	T	16: 88,575,414 (GRCm39)	I196F	probably null	Het
Gm8237	T	A	14: 5,863,642 (GRCm38)	I8L	possibly damaging	Het
Gria2	A	C	3: 80,614,269 (GRCm39)	N590K	probably damaging	Het
Hectd2	T	A	19: 36,589,633 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,619,398 (GRCm39)	T1239S	possibly damaging	Het
Hps3	A	T	3: 20,083,194 (GRCm39)	D167E	probably damaging	Het
Htr1a	A	G	13: 105,581,881 (GRCm39)	S374G	probably benign	Het
Il16	C	T	7: 83,301,202 (GRCm39)	G307S	probably benign	Het
Ipmk	T	C	10: 71,217,047 (GRCm39)	F198S	probably damaging	Het
Lyz2	T	A	10: 117,114,558 (GRCm39)	I124F	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgpra1	A	T	7: 46,985,020 (GRCm39)	C220S	possibly damaging	Het
Myo5c	A	T	9: 75,204,931 (GRCm39)	K1595*	probably null	Het
Naga	G	T	15: 82,214,295 (GRCm39)	D405E	probably benign	Het
Nanog	T	A	6: 122,690,418 (GRCm39)	N249K	probably benign	Het
Nhlh1	G	T	1: 171,881,570 (GRCm39)	R99S	probably damaging	Het
Ntrk2	T	A	13: 59,202,090 (GRCm39)		probably null	Het
Nudt2	A	G	4: 41,480,354 (GRCm39)	E79G	probably benign	Het
Or2ad1	A	T	13: 21,326,746 (GRCm39)	C160*	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52n2	T	A	7: 104,542,080 (GRCm39)	I252F	probably benign	Het
Pitpnm2	T	C	5: 124,267,464 (GRCm39)	D592G	probably damaging	Het
Prps1l3	T	C	12: 57,285,369 (GRCm39)	V53A	probably damaging	Het
Psmd2	T	G	16: 20,481,826 (GRCm39)	V853G	probably damaging	Het
Pycard	A	G	7: 127,592,677 (GRCm39)	I50T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf168	T	A	16: 32,097,221 (GRCm39)	S99T	probably benign	Het
Rph3al	A	G	11: 75,797,373 (GRCm39)	S108P	possibly damaging	Het
Sdk1	G	A	5: 142,071,526 (GRCm39)	A979T	probably benign	Het
Sec16a	G	A	2: 26,331,368 (GRCm39)	Q216*	probably null	Het
Slc35f3	T	A	8: 127,121,312 (GRCm39)	V391E	possibly damaging	Het
Slf1	T	A	13: 77,199,384 (GRCm39)	I666F	probably damaging	Het
Slfn14	A	G	11: 83,167,013 (GRCm39)	V834A	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tbc1d10b	A	G	7: 126,799,455 (GRCm39)		probably null	Het
Tmeff1	T	A	4: 48,604,679 (GRCm39)	C91S	probably damaging	Het
Tmem108	G	T	9: 103,366,481 (GRCm39)	N503K	possibly damaging	Het
Trbv28	A	G	6: 41,248,541 (GRCm39)	T24A	probably damaging	Het
Trim34b	A	G	7: 103,980,446 (GRCm39)	E178G	probably damaging	Het
Trmt1l	T	A	1: 151,329,696 (GRCm39)	H546Q	probably benign	Het
Ttc39d	A	G	17: 80,523,799 (GRCm39)	I153V	probably benign	Het
Ttll13	T	C	7: 79,899,964 (GRCm39)	V101A	probably damaging	Het
Ubash3b	A	T	9: 40,926,243 (GRCm39)	H501Q	probably damaging	Het
Upf3a	T	A	8: 13,846,443 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,352,562 (GRCm39)	S94G	probably benign	Het
Wdr86	T	C	5: 24,917,573 (GRCm39)	*381W	probably null	Het
Wdr90	G	A	17: 26,074,326 (GRCm39)	P680S	probably damaging	Het
Zbtb22	G	A	17: 34,135,956 (GRCm39)	V34M	probably damaging	Het
Zbtb8a	A	G	4: 129,253,689 (GRCm39)		probably null	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp512b	A	G	2: 181,231,295 (GRCm39)	V295A	probably damaging	Het
Zfp608	A	T	18: 55,121,578 (GRCm39)	V3E	possibly damaging	Het
Zfp748	G	T	13: 67,694,781 (GRCm39)	D32E	possibly damaging	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
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
R6247:Cers5	UTSW	15	99,643,805 (GRCm39)	missense	probably benign	0.03
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'- TTGCAGTCCCTCTAGTCACAGG -3'
(R):5'- TGTCACCGAACCTAGAAACAGG -3'

Sequencing Primer
(F):5'- CCCTCTAGTCACAGGAGTGTAGATG -3'
(R):5'- ACAGGTACACGAGTGGGCTTTC -3'

Posted On

2014-12-04