Mutagenetix > Incidental Mutation

Incidental Mutation 'R0197:Cert1'

23512

Institutional Source

Beutler Lab

Gene Symbol

Cert1

Ensembl Gene

ENSMUSG00000021669

Gene Name

ceramide transporter 1

Synonyms

9230101K08Rik, ceramide transport protein, Col4a3bp, GPBP, Cert, 2810404O15Rik

MMRRC Submission

038456-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0197 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96679126-96776675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96685795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 63 (Y63N)

Ref Sequence

ENSEMBL: ENSMUSP00000136766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077672] [ENSMUST00000109444] [ENSMUST00000179226]

AlphaFold

Q9EQG9

Predicted Effect

probably benign
Transcript: ENSMUST00000077672
AA Change: Y63N

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: Y63N

Domain	Start	End	E-Value	Type
PH	24	119	4.52e-21	SMART
low complexity region	138	150	N/A	INTRINSIC
coiled coil region	273	301	N/A	INTRINSIC
START	398	619	1.15e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109444
AA Change: Y63N

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: Y63N

Domain	Start	End	E-Value	Type
PH	24	119	4.52e-21	SMART
low complexity region	138	150	N/A	INTRINSIC
coiled coil region	273	301	N/A	INTRINSIC
START	372	593	1.15e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179226
AA Change: Y63N

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: Y63N

Domain	Start	End	E-Value	Type
PH	24	119	4.52e-21	SMART
low complexity region	138	150	N/A	INTRINSIC
coiled coil region	273	301	N/A	INTRINSIC
START	372	593	1.15e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222434

Meta Mutation Damage Score

0.1089

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.5%
20x: 75.9%

Validation Efficiency

97% (121/125)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display embryonic lethality during organogenesis with reduced embryo size, impaired heart function, abnormal heart morphology, abnormal mitochondrial morphology and physiology, abnormal endoplasmic reticulum morphology, and decreased cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,632 (GRCm39)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,796,687 (GRCm39)	*118W	probably null	Het
Abcc2	A	T	19: 43,815,053 (GRCm39)	R1147*	probably null	Het
Acsbg3	A	T	17: 57,190,835 (GRCm39)	N468Y	probably benign	Het
Agap2	A	G	10: 126,927,571 (GRCm39)	T1131A	possibly damaging	Het
Aldh9a1	A	G	1: 167,189,416 (GRCm39)	D388G	probably damaging	Het
Ap3d1	G	T	10: 80,565,876 (GRCm39)	A97E	probably damaging	Het
Arhgef10	T	A	8: 15,012,636 (GRCm39)	V320E	probably damaging	Het
Baiap2l1	C	A	5: 144,202,820 (GRCm39)	V498L	probably damaging	Het
Bltp2	A	C	11: 78,160,530 (GRCm39)		probably benign	Het
Cdh2	T	C	18: 16,762,633 (GRCm39)	N437S	probably benign	Het
Cfap119	T	C	7: 127,184,034 (GRCm39)	E261G	probably damaging	Het
Cfap20dc	C	T	14: 8,518,695 (GRCm38)	G254R	probably damaging	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Cstf2t	A	T	19: 31,062,026 (GRCm39)	M521L	probably benign	Het
Dlx5	T	C	6: 6,881,619 (GRCm39)	K90E	possibly damaging	Het
Dmp1	A	G	5: 104,355,496 (GRCm39)	E32G	possibly damaging	Het
Espnl	T	G	1: 91,272,211 (GRCm39)	Y524D	probably damaging	Het
Fam20c	T	C	5: 138,741,479 (GRCm39)	L30P	probably damaging	Het
Fat1	G	T	8: 45,479,590 (GRCm39)	A2879S	probably benign	Het
Gabrg1	A	T	5: 70,931,732 (GRCm39)	V337D	probably damaging	Het
Gart	C	A	16: 91,420,291 (GRCm39)	D851Y	possibly damaging	Het
Gcc1	T	C	6: 28,420,615 (GRCm39)	H234R	probably damaging	Het
Gemin6	T	A	17: 80,535,524 (GRCm39)	H161Q	probably damaging	Het
Glt6d1	A	G	2: 25,684,082 (GRCm39)	I308T	probably benign	Het
Gm10320	T	C	13: 98,628,491 (GRCm39)	T7A	probably benign	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Gmpr2	T	A	14: 55,910,192 (GRCm39)	D7E	possibly damaging	Het
Hc	A	G	2: 34,874,762 (GRCm39)	Y1620H	probably damaging	Het
Hoxa3	T	C	6: 52,147,123 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Kdr	G	T	5: 76,129,082 (GRCm39)	T188N	possibly damaging	Het
Lepr	A	T	4: 101,609,349 (GRCm39)	D312V	possibly damaging	Het
Mcm3	A	G	1: 20,880,329 (GRCm39)	V501A	probably damaging	Het
Mcur1	T	C	13: 43,699,216 (GRCm39)	Y267C	probably damaging	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Med13l	T	C	5: 118,809,067 (GRCm39)		probably benign	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Ndrg2	T	A	14: 52,144,460 (GRCm39)		probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Onecut2	T	A	18: 64,474,543 (GRCm39)	S365T	possibly damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Or51e1	T	A	7: 102,359,202 (GRCm39)	H245Q	probably damaging	Het
Pds5b	C	A	5: 150,677,896 (GRCm39)	Q505K	probably benign	Het
Pramel22	C	T	4: 143,383,010 (GRCm39)	E70K	possibly damaging	Het
Rfx2	T	C	17: 57,110,722 (GRCm39)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,346,541 (GRCm39)	V214A	probably benign	Het
Samd3	T	A	10: 26,147,752 (GRCm39)	C476S	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Shank1	C	T	7: 44,001,718 (GRCm39)	R1146W	unknown	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Smpd4	T	A	16: 17,459,461 (GRCm39)		probably null	Het
Strip1	C	A	3: 107,521,929 (GRCm39)	D750Y	probably damaging	Het
Svep1	T	C	4: 58,070,851 (GRCm39)	K2312E	possibly damaging	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Tnfaip1	A	T	11: 78,420,840 (GRCm39)		probably benign	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Usp24	T	A	4: 106,264,330 (GRCm39)	W1754R	probably damaging	Het
Utp20	G	A	10: 88,613,378 (GRCm39)	P1301L	probably benign	Het
Vmn2r115	T	A	17: 23,578,755 (GRCm39)	S743T	probably damaging	Het
Vps41	T	G	13: 19,038,833 (GRCm39)		probably null	Het
Vps72	G	T	3: 95,029,894 (GRCm39)	L304F	probably damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Zfp521	T	C	18: 13,978,119 (GRCm39)	T765A	probably benign	Het
Zfp616	A	T	11: 73,976,500 (GRCm39)	H923L	probably damaging	Het
Zp2	A	T	7: 119,742,799 (GRCm39)		probably benign	Het

Other mutations in Cert1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Cert1	APN	13	96,751,310 (GRCm39)	missense	probably damaging	0.99
IGL02121:Cert1	APN	13	96,735,982 (GRCm39)	missense	probably benign	0.45
IGL02207:Cert1	APN	13	96,761,300 (GRCm39)	critical splice donor site	probably null
IGL02285:Cert1	APN	13	96,752,990 (GRCm39)	missense	probably benign	0.10
IGL02425:Cert1	APN	13	96,746,390 (GRCm39)	missense	probably damaging	1.00
IGL02749:Cert1	APN	13	96,765,643 (GRCm39)	missense	possibly damaging	0.60
IGL03288:Cert1	APN	13	96,770,700 (GRCm39)	missense	probably benign	0.00
PIT4508001:Cert1	UTSW	13	96,767,284 (GRCm39)	missense	probably damaging	1.00
R0317:Cert1	UTSW	13	96,770,629 (GRCm39)	nonsense	probably null
R2103:Cert1	UTSW	13	96,771,394 (GRCm39)	missense	probably damaging	1.00
R2104:Cert1	UTSW	13	96,771,394 (GRCm39)	missense	probably damaging	1.00
R4664:Cert1	UTSW	13	96,735,965 (GRCm39)	missense	probably benign	0.01
R4782:Cert1	UTSW	13	96,748,773 (GRCm39)	missense	probably benign
R4824:Cert1	UTSW	13	96,752,995 (GRCm39)	missense	probably benign
R5060:Cert1	UTSW	13	96,739,663 (GRCm39)	missense	probably benign	0.37
R5131:Cert1	UTSW	13	96,751,343 (GRCm39)	missense	probably damaging	1.00
R5385:Cert1	UTSW	13	96,765,575 (GRCm39)	missense	possibly damaging	0.94
R5503:Cert1	UTSW	13	96,679,747 (GRCm39)	missense	possibly damaging	0.61
R6034:Cert1	UTSW	13	96,746,308 (GRCm39)	missense	probably benign	0.06
R6034:Cert1	UTSW	13	96,746,308 (GRCm39)	missense	probably benign	0.06
R7193:Cert1	UTSW	13	96,767,341 (GRCm39)	critical splice donor site	probably null
R7819:Cert1	UTSW	13	96,765,575 (GRCm39)	missense	possibly damaging	0.74
R7827:Cert1	UTSW	13	96,753,563 (GRCm39)	missense	probably damaging	1.00
R8147:Cert1	UTSW	13	96,679,736 (GRCm39)	missense	probably benign
R8228:Cert1	UTSW	13	96,679,723 (GRCm39)	missense	probably benign	0.08
R8486:Cert1	UTSW	13	96,770,690 (GRCm39)	missense	probably damaging	0.99
R9039:Cert1	UTSW	13	96,679,717 (GRCm39)	missense	probably benign	0.02
R9141:Cert1	UTSW	13	96,753,568 (GRCm39)	missense	probably damaging	0.97
R9615:Cert1	UTSW	13	96,767,334 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- ACGGGGACCAGAACAGTTTAAATGC -3'
(R):5'- AGTTGTATGCTCCAGAAGGGCAAAG -3'

Sequencing Primer
(F):5'- ACAGTTTAAATGCCAAGGTGATG -3'
(R):5'- gtgtttcccagcacccaaag -3'

Posted On

2013-04-16