Mutagenetix > Incidental Mutation

Incidental Mutation 'R2103:Cert1'

230723

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

040107-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96679126-96776675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96771394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 550 (N550K)

Ref Sequence

ENSEMBL: ENSMUSP00000076856 (fasta)

Gene Model

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

AlphaFold

Q9EQG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000077672
AA Change: N550K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: N550K

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 damaging
Transcript: ENSMUST00000109444
AA Change: N524K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: N524K

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 damaging
Transcript: ENSMUST00000179226
AA Change: N524K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: N524K

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: ENSMUST00000221394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223471

Meta Mutation Damage Score

0.4101

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	A	3: 59,947,235 (GRCm39)	P311Q	probably damaging	Het
Acoxl	T	A	2: 127,814,526 (GRCm39)	M314K	probably damaging	Het
Agmat	A	T	4: 141,483,214 (GRCm39)	D216V	probably damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,391,098 (GRCm39)	D95V	probably damaging	Het
Aspm	G	A	1: 139,419,403 (GRCm39)	V3023M	probably damaging	Het
Atg16l2	A	G	7: 100,939,568 (GRCm39)		probably null	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Best3	A	C	10: 116,838,499 (GRCm39)	I186L	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cat	A	T	2: 103,293,660 (GRCm39)	D389E	probably damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Cntnap2	G	A	6: 47,275,522 (GRCm39)	E1325K	probably damaging	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cyp26b1	A	G	6: 84,552,032 (GRCm39)	S369P	possibly damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dpyd	G	C	3: 118,858,601 (GRCm39)	S605T	probably benign	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Ebf2	T	A	14: 67,625,391 (GRCm39)	V233D	probably damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Efhc1	T	A	1: 21,059,784 (GRCm39)	C611*	probably null	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fezf1	A	G	6: 23,247,331 (GRCm39)	F248S	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gm9507	T	A	10: 77,647,500 (GRCm39)		probably benign	Het
Grin2b	A	T	6: 135,757,138 (GRCm39)	I441N	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hectd4	C	A	5: 121,493,692 (GRCm39)	D3811E	probably benign	Het
Herc4	T	C	10: 63,081,889 (GRCm39)	S71P	probably benign	Het
Hhipl1	A	G	12: 108,293,977 (GRCm39)	T628A	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Kndc1	C	T	7: 139,501,150 (GRCm39)	T813I	probably benign	Het
Limch1	A	G	5: 67,156,072 (GRCm39)	K394R	probably benign	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Lrrc47	C	T	4: 154,100,350 (GRCm39)	R287W	probably damaging	Het
Mdn1	T	A	4: 32,738,712 (GRCm39)	L3555Q	possibly damaging	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mei1	G	T	15: 81,991,237 (GRCm39)	V472F	probably damaging	Het
Mrps34	T	A	17: 25,114,464 (GRCm39)		probably null	Het
Myom3	A	G	4: 135,503,723 (GRCm39)	T391A	probably benign	Het
Nfib	G	A	4: 82,248,645 (GRCm39)	T314I	possibly damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p73	A	G	7: 108,064,810 (GRCm39)	N93S	probably benign	Het
Or6c5	T	C	10: 129,074,368 (GRCm39)	S117P	probably damaging	Het
Or9a2	A	G	6: 41,748,939 (GRCm39)	I98T	probably benign	Het
Pdia3	G	C	2: 121,264,474 (GRCm39)	G346A	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Ppip5k1	A	T	2: 121,152,134 (GRCm39)		probably null	Het
Psma6	T	C	12: 55,454,842 (GRCm39)	I57T	probably benign	Het
Psme2	A	T	14: 55,828,297 (GRCm39)		probably null	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sbno1	G	T	5: 124,532,000 (GRCm39)	S727R	probably damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slc4a5	A	C	6: 83,201,663 (GRCm39)	D4A	probably benign	Het
Slc4a5	G	A	6: 83,274,360 (GRCm39)	A1076T	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Sptan1	T	C	2: 29,920,483 (GRCm39)	S2320P	probably damaging	Het
Stim2	A	G	5: 54,262,591 (GRCm39)	T278A	possibly damaging	Het
Sympk	T	A	7: 18,788,041 (GRCm39)	S1186T	probably benign	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tns2	A	T	15: 102,021,100 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpsg1	T	C	17: 25,592,267 (GRCm39)	S41P	possibly damaging	Het
Trim36	T	C	18: 46,329,149 (GRCm39)	N85S	probably benign	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tssk4	A	G	14: 55,888,997 (GRCm39)	I174M	probably damaging	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r4	T	A	3: 64,322,704 (GRCm39)	N5I	possibly damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Vwf	G	A	6: 125,623,293 (GRCm39)	V1797I	probably benign	Het
Wasl	A	T	6: 24,618,377 (GRCm39)	S447T	unknown	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	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
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'- GGAAAAGCCCTCTGTCTGTC -3'
(R):5'- GGCATGTAGACTTTTAATGTCTTCCAC -3'

Sequencing Primer
(F):5'- TAGCACCAATGTAGTGGCTC -3'
(R):5'- TCAGGTTAAGGACTAGTAAATTGGAC -3'

Posted On

2014-09-18