Mutagenetix > Incidental Mutation

Incidental Mutation 'R9039:Cert1'

687630

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9039 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96679126-96776675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96679717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 16 (P16S)

Ref Sequence

ENSEMBL: ENSMUSP00000076856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022172] [ENSMUST00000077672] [ENSMUST00000109444] [ENSMUST00000179226] [ENSMUST00000223475]

AlphaFold

Q9EQG9

Predicted Effect

probably benign
Transcript: ENSMUST00000022172

SMART Domains

Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668

Domain	Start	End	E-Value	Type
Pfam:IMS	105	324	1.7e-47	PFAM
Pfam:IMS_C	406	525	5.5e-22	PFAM
PDB:2LSJ\|B	559	582	9e-8	PDB
ZnF_Rad18	619	645	2.89e-9	SMART
ZnF_Rad18	761	787	2.31e-8	SMART
low complexity region	828	839	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077672
AA Change: P16S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: P16S

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: P16S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: P16S

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: P16S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: P16S

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: ENSMUST00000223475

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,849 (GRCm39)	V692A	possibly damaging	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Adcy10	T	C	1: 165,345,914 (GRCm39)	I321T	probably damaging	Het
Agbl2	C	T	2: 90,645,730 (GRCm39)	T821I	probably benign	Het
Alpk1	A	G	3: 127,473,192 (GRCm39)	L937P	probably damaging	Het
Atp5f1b	A	G	10: 127,919,767 (GRCm39)	D45G	probably benign	Het
C8a	C	T	4: 104,679,200 (GRCm39)	R530H	probably benign	Het
Cacna1s	T	C	1: 136,016,057 (GRCm39)	S694P	probably benign	Het
Cdca7	T	A	2: 72,312,856 (GRCm39)	D162E	probably benign	Het
Cep78	G	T	19: 15,936,907 (GRCm39)	Q600K	probably benign	Het
Coq8b	A	C	7: 26,950,011 (GRCm39)	R363S	probably benign	Het
Cpne3	A	T	4: 19,540,770 (GRCm39)	C202S	probably damaging	Het
Csmd3	G	T	15: 47,483,308 (GRCm39)		probably benign	Het
Cyp4a14	A	T	4: 115,344,461 (GRCm39)	V468E	probably damaging	Het
Dchs1	A	T	7: 105,405,215 (GRCm39)	D2442E	probably benign	Het
Dip2a	T	C	10: 76,163,553 (GRCm39)	Y49C	probably benign	Het
Dop1a	A	G	9: 86,382,870 (GRCm39)	R268G	probably damaging	Het
Eid3	C	T	10: 82,703,565 (GRCm39)	S342L	possibly damaging	Het
Ezh2	A	G	6: 47,528,671 (GRCm39)	L296P	possibly damaging	Het
Fgfrl1	G	C	5: 108,853,439 (GRCm39)		probably null	Het
Flg2	A	G	3: 93,110,899 (GRCm39)	R976G	unknown	Het
Fsip2	C	A	2: 82,828,545 (GRCm39)	Q6781K	probably benign	Het
Golga3	C	T	5: 110,352,799 (GRCm39)	H857Y	probably benign	Het
Hmcn2	T	A	2: 31,244,646 (GRCm39)	V701E	probably damaging	Het
Il21	A	T	3: 37,286,602 (GRCm39)	I38N	probably benign	Het
Ip6k2	G	T	9: 108,681,807 (GRCm39)	G246V	probably damaging	Het
Ipo13	T	C	4: 117,758,185 (GRCm39)	Q726R	probably damaging	Het
Itsn1	A	T	16: 91,703,658 (GRCm39)	N1521Y	unknown	Het
Kif2b	A	G	11: 91,467,131 (GRCm39)	V384A	possibly damaging	Het
L3mbtl1	G	T	2: 162,807,988 (GRCm39)	R541L	probably damaging	Het
Lama3	T	A	18: 12,614,120 (GRCm39)	C1296*	probably null	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Mmp27	C	A	9: 7,581,250 (GRCm39)	F478L	probably benign	Het
Moxd1	T	A	10: 24,155,251 (GRCm39)		probably benign	Het
Naaa	T	A	5: 92,420,300 (GRCm39)		probably benign	Het
Nav1	T	A	1: 135,371,487 (GRCm39)	Q1746L	unknown	Het
Nedd9	T	C	13: 41,471,984 (GRCm39)	Y165C	probably damaging	Het
Neurod1	T	C	2: 79,284,720 (GRCm39)	Y221C	probably damaging	Het
Or2q1	A	T	6: 42,794,545 (GRCm39)	I47F	probably damaging	Het
Or4c122	G	T	2: 89,079,545 (GRCm39)	F152L	probably benign	Het
Or5al6	T	C	2: 85,976,625 (GRCm39)	Y151C	probably damaging	Het
Or9m1	T	C	2: 87,733,907 (GRCm39)	T38A	probably damaging	Het
Orm3	A	G	4: 63,274,533 (GRCm39)	N33D	possibly damaging	Het
Ppp1r3a	G	A	6: 14,754,525 (GRCm39)	P241S	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,657 (GRCm39)	T949A	probably benign	Het
Prdx6	A	T	1: 161,078,619 (GRCm39)	I23N	probably damaging	Het
Prkd3	A	T	17: 79,280,003 (GRCm39)	V334E	probably benign	Het
Prr12	A	T	7: 44,684,146 (GRCm39)	D1631E	probably damaging	Het
Ptpn22	A	G	3: 103,819,551 (GRCm39)		probably benign	Het
Pum2	T	G	12: 8,794,430 (GRCm39)	D773E	probably damaging	Het
Sidt2	A	G	9: 45,856,648 (GRCm39)	C451R	probably benign	Het
Slc37a2	A	G	9: 37,148,658 (GRCm39)	S275P	probably benign	Het
Slmap	G	T	14: 26,254,519 (GRCm39)	N54K	probably benign	Het
Susd4	A	G	1: 182,681,597 (GRCm39)	D146G	probably benign	Het
Tekt3	G	A	11: 62,972,169 (GRCm39)	R275H	possibly damaging	Het
Tkfc	A	G	19: 10,573,612 (GRCm39)	L242P	probably damaging	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Triqk	A	T	4: 12,980,490 (GRCm39)	D78V	probably damaging	Het
Trmo	T	C	4: 46,382,322 (GRCm39)	D258G	probably benign	Het
Tsc2	A	G	17: 24,826,489 (GRCm39)	V920A	probably benign	Het
Tspan17	C	T	13: 54,943,991 (GRCm39)	Q257*	probably null	Het
Tube1	T	A	10: 39,011,017 (GRCm39)	F45I	probably damaging	Het
Vmn1r4	A	G	6: 56,933,822 (GRCm39)	T109A	possibly damaging	Het
Vmn2r14	A	T	5: 109,367,902 (GRCm39)	Y363*	probably null	Het
Zfp324	G	T	7: 12,705,455 (GRCm39)	G548V	probably benign	Het
Zpld2	C	A	4: 133,922,858 (GRCm39)	V492F	probably damaging	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
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
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'- TGGAAGGGCAGGCTTTCTTC -3'
(R):5'- GCTGACAGGATCCAGGAATTG -3'

Sequencing Primer
(F):5'- GTCCGCTCGGTGTCAGG -3'
(R):5'- TGGCCAGGCACTCATTCCAAG -3'

Posted On

2021-11-19