Mutagenetix > Incidental Mutation

Incidental Mutation 'R4664:Cert1'

353130

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

041922-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4664 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96679126-96776675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96735965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 175 (V175A)

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: V175A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: V175A

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: V175A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: V175A

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: V175A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: V175A

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

0.1432

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (110/115)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	A	G	6: 125,840,501 (GRCm39)	I391V	probably benign	Het
Apc	T	A	18: 34,431,647 (GRCm39)	L349M	probably damaging	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
Atp8a1	T	A	5: 67,919,929 (GRCm39)	D379V	possibly damaging	Het
Aurkb	A	G	11: 68,939,435 (GRCm39)	K173E	probably damaging	Het
Bak1	T	C	17: 27,241,510 (GRCm39)	I83V	possibly damaging	Het
Btbd17	A	C	11: 114,684,832 (GRCm39)	V69G	probably damaging	Het
Cacna1a	T	A	8: 85,328,396 (GRCm39)	Y1597*	probably null	Het
Camk2a	C	A	18: 61,088,696 (GRCm39)	Q167K	possibly damaging	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Ccer2	A	G	7: 28,455,928 (GRCm39)	E40G	probably benign	Het
Cdc42bpa	A	G	1: 179,972,130 (GRCm39)	T527A	probably damaging	Het
Cdkl2	T	C	5: 92,185,124 (GRCm39)	D89G	probably damaging	Het
Cep128	G	T	12: 91,263,027 (GRCm39)	R291S	probably damaging	Het
Chd4	A	G	6: 125,078,465 (GRCm39)	M203V	possibly damaging	Het
Chrna4	A	G	2: 180,679,286 (GRCm39)	S54P	probably damaging	Het
Cic	TGTTGCCCTC	T	7: 24,990,099 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 10,144,214 (GRCm39)	I152L	possibly damaging	Het
Cntn6	A	G	6: 104,705,245 (GRCm39)	E154G	probably benign	Het
Col16a1	A	C	4: 129,955,883 (GRCm39)		probably benign	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Cyth2	T	C	7: 45,460,143 (GRCm39)	D183G	probably damaging	Het
Ddx47	A	T	6: 134,989,319 (GRCm39)	T48S	possibly damaging	Het
Dgkk	A	G	X: 6,794,751 (GRCm39)	D685G	probably benign	Het
Dis3l	C	T	9: 64,238,080 (GRCm39)	S29N	unknown	Het
Dlg5	T	C	14: 24,187,249 (GRCm39)	H1834R	possibly damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Dock3	T	A	9: 106,870,743 (GRCm39)	N557I	possibly damaging	Het
Dync2i1	T	C	12: 116,219,831 (GRCm39)	E37G	probably damaging	Het
Eprs1	A	T	1: 185,105,273 (GRCm39)		probably benign	Het
Faim2	C	A	15: 99,422,581 (GRCm39)		probably null	Het
Faim2	T	G	15: 99,422,582 (GRCm39)	S72R	probably benign	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fance	T	C	17: 28,534,636 (GRCm39)		probably benign	Het
Farsb	A	T	1: 78,420,402 (GRCm39)	H496Q	possibly damaging	Het
Fryl	C	T	5: 73,248,022 (GRCm39)	E1032K	possibly damaging	Het
Galnt14	A	T	17: 73,814,808 (GRCm39)		probably benign	Het
Gba2	A	T	4: 43,568,619 (GRCm39)		probably benign	Het
Gjb4	C	A	4: 127,245,571 (GRCm39)	K123N	probably damaging	Het
Gmcl1	G	A	6: 86,709,980 (GRCm39)	T56I	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Gtpbp2	T	C	17: 46,472,080 (GRCm39)	V5A	probably benign	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Hsd3b3	T	C	3: 98,649,532 (GRCm39)	S264G	probably damaging	Het
Ints8	T	C	4: 11,227,152 (GRCm39)	M574V	probably benign	Het
Kif4-ps	G	A	12: 101,115,477 (GRCm39)		noncoding transcript	Het
Klhl14	A	T	18: 21,687,765 (GRCm39)	N552K	probably benign	Het
Klhl40	A	G	9: 121,609,799 (GRCm39)	E528G	probably damaging	Het
Lactb2	T	C	1: 13,717,624 (GRCm39)	E133G	probably damaging	Het
Lratd2	A	T	15: 60,695,478 (GRCm39)	D89E	probably benign	Het
Lrrtm2	T	C	18: 35,347,310 (GRCm39)		probably null	Het
Mab21l2	T	A	3: 86,454,811 (GRCm39)	Y63F	probably benign	Het
Mbd1	T	A	18: 74,402,597 (GRCm39)	I33N	possibly damaging	Het
Mertk	G	A	2: 128,643,132 (GRCm39)	V844M	probably benign	Het
Myh11	T	C	16: 14,044,448 (GRCm39)	T652A	possibly damaging	Het
Nlrp4a	C	A	7: 26,148,943 (GRCm39)	Y183*	probably null	Het
Noa1	T	A	5: 77,447,600 (GRCm39)	T558S	probably benign	Het
Nol11	A	T	11: 107,071,826 (GRCm39)	S256T	possibly damaging	Het
Nr1d1	G	T	11: 98,662,086 (GRCm39)	R183S	possibly damaging	Het
Nrg2	G	T	18: 36,185,948 (GRCm39)	Q264K	possibly damaging	Het
Nsd3	T	A	8: 26,188,894 (GRCm39)	F1027I	probably damaging	Het
Ntrk3	T	A	7: 78,110,847 (GRCm39)	I285F	probably damaging	Het
Obox8	T	C	7: 14,066,771 (GRCm39)	N91S	possibly damaging	Het
Oga	T	C	19: 45,760,384 (GRCm39)	E258G	probably benign	Het
Orc5	C	T	5: 22,751,520 (GRCm39)	S63N	probably benign	Het
Osbpl6	C	T	2: 76,398,552 (GRCm39)	T412I	probably benign	Het
P2ry14	C	T	3: 59,022,563 (GRCm39)	C308Y	probably damaging	Het
Pacsin1	T	C	17: 27,926,038 (GRCm39)	F127L	probably damaging	Het
Pex11b	T	C	3: 96,551,151 (GRCm39)	L198P	possibly damaging	Het
Pla2g4e	A	T	2: 120,001,669 (GRCm39)	V660E	probably damaging	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Polr3b	A	G	10: 84,550,233 (GRCm39)	Y981C	probably damaging	Het
Popdc2	T	A	16: 38,194,649 (GRCm39)	S357T	probably damaging	Het
Prr29	A	G	11: 106,267,159 (GRCm39)	H58R	probably damaging	Het
Pyy	T	A	11: 101,998,178 (GRCm39)	M1L	possibly damaging	Het
Rasd2	T	C	8: 75,948,556 (GRCm39)	S161P	possibly damaging	Het
Ryr3	C	T	2: 112,826,900 (GRCm39)		probably benign	Het
Sectm1a	G	A	11: 120,960,552 (GRCm39)	R88C	possibly damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Siglecf	A	T	7: 43,005,837 (GRCm39)	I465F	possibly damaging	Het
Sorl1	A	T	9: 41,915,347 (GRCm39)	M1294K	probably damaging	Het
Spam1	A	T	6: 24,796,661 (GRCm39)	H204L	probably benign	Het
Sspo	A	T	6: 48,450,468 (GRCm39)	N2586Y	possibly damaging	Het
Tbc1d4	A	G	14: 101,700,263 (GRCm39)		probably benign	Het
Tceanc2	A	T	4: 107,022,757 (GRCm39)	S77T	probably damaging	Het
Tedc2	A	G	17: 24,439,114 (GRCm39)		probably benign	Het
Tgm6	A	G	2: 129,979,314 (GRCm39)	D148G	probably benign	Het
Tgm6	A	T	2: 129,983,128 (GRCm39)	Q239L	probably benign	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,674,270 (GRCm39)		probably null	Het
Tmem54	A	T	4: 129,004,704 (GRCm39)	E186D	possibly damaging	Het
Tpk1	A	T	6: 43,588,269 (GRCm39)	F32I	probably benign	Het
Trpc4ap	A	G	2: 155,514,917 (GRCm39)	I97T	probably benign	Het
Tut7	G	A	13: 59,948,413 (GRCm39)	T636I	possibly damaging	Het
Txlnb	A	G	10: 17,718,942 (GRCm39)	E591G	probably damaging	Het
Tyk2	C	T	9: 21,025,503 (GRCm39)	A741T	probably damaging	Het
Ubr4	G	A	4: 139,133,829 (GRCm39)	E742K	possibly damaging	Het
Uckl1	A	T	2: 181,216,661 (GRCm39)	S95T	possibly damaging	Het
Uevld	T	A	7: 46,587,734 (GRCm39)	D322V	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r238	G	T	18: 3,123,300 (GRCm39)	T38K	probably damaging	Het
Vps8	T	A	16: 21,262,938 (GRCm39)		probably null	Het
Wdr83	T	C	8: 85,806,680 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,183,559 (GRCm39)	T51A	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
R0197:Cert1	UTSW	13	96,685,795 (GRCm39)	missense	probably benign	0.05
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
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'- AGCAGTACCTTGAACTTTATAGCCC -3'
(R):5'- GTCACATGGACACTGAAATCCG -3'

Sequencing Primer
(F):5'- TGAACTTTATAGCCCTAGTTATCCC -3'
(R):5'- CATGGACACTGAAATCCGTTATAC -3'

Posted On

2015-10-08