Incidental Mutation 'IGL02207:Cert1'
ID 284566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cert1
Ensembl Gene ENSMUSG00000021669
Gene Name ceramide transporter 1
Synonyms 9230101K08Rik, ceramide transport protein, Col4a3bp, GPBP, Cert, 2810404O15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02207
Quality Score
Status
Chromosome 13
Chromosomal Location 96679126-96776675 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 96761300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077672] [ENSMUST00000077672] [ENSMUST00000109444] [ENSMUST00000109444] [ENSMUST00000179226] [ENSMUST00000179226]
AlphaFold Q9EQG9
Predicted Effect probably null
Transcript: ENSMUST00000077672
SMART Domains Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000077672
SMART Domains Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000109444
SMART Domains Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000109444
SMART Domains Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000179226
SMART Domains Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000179226
SMART Domains Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669

DomainStartEndE-ValueType
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: ENSMUST00000223471
Coding Region Coverage
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,992,993 (GRCm39) E702G probably damaging Het
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Agap3 A T 5: 24,704,934 (GRCm39) T660S probably benign Het
Amotl2 A T 9: 102,601,896 (GRCm39) E380V probably damaging Het
Ap4e1 A G 2: 126,853,736 (GRCm39) E58G probably damaging Het
Arap3 G A 18: 38,120,906 (GRCm39) A713V probably benign Het
B4galt2 T C 4: 117,738,718 (GRCm39) D33G probably damaging Het
Bbs7 A T 3: 36,658,639 (GRCm39) S212T probably benign Het
Ccl26 A G 5: 135,592,224 (GRCm39) Y38H probably benign Het
Ccne2 A T 4: 11,202,261 (GRCm39) S339C probably benign Het
Cd55 A G 1: 130,380,156 (GRCm39) V274A possibly damaging Het
Cenpw T G 10: 30,074,577 (GRCm39) probably null Het
Chrnb4 T C 9: 54,942,500 (GRCm39) D258G probably damaging Het
Commd3 T C 2: 18,678,819 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b23 C A 7: 26,381,180 (GRCm39) R59L probably damaging Het
Edar G T 10: 58,446,343 (GRCm39) T194K probably damaging Het
Edem3 A G 1: 151,684,111 (GRCm39) I733V possibly damaging Het
Elmod2 T C 8: 84,048,135 (GRCm39) Y109C probably benign Het
Eps15 C T 4: 109,161,945 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,412 (GRCm39) V1937A probably benign Het
Fdx2 T A 9: 20,979,415 (GRCm39) probably null Het
Flg2 A T 3: 93,127,435 (GRCm39) I2116F unknown Het
Gm15091 A G X: 148,760,462 (GRCm39) D424G possibly damaging Het
Gm16380 T A 9: 53,791,823 (GRCm39) noncoding transcript Het
Gpn2 G A 4: 133,311,947 (GRCm39) V60M possibly damaging Het
Grip1 G A 10: 119,911,214 (GRCm39) R1044K probably damaging Het
H2-D1 T A 17: 35,482,390 (GRCm39) S37T possibly damaging Het
Havcr1 C T 11: 46,669,403 (GRCm39) A294V probably benign Het
Herc4 G A 10: 63,135,023 (GRCm39) probably null Het
Ift140 A G 17: 25,274,572 (GRCm39) Y748C probably benign Het
Il20ra A G 10: 19,627,326 (GRCm39) T242A probably damaging Het
Ilvbl G A 10: 78,419,536 (GRCm39) probably null Het
Kif18a A T 2: 109,127,052 (GRCm39) I329L probably damaging Het
Kmt2a T A 9: 44,758,979 (GRCm39) I957F probably damaging Het
Krt1 A G 15: 101,757,051 (GRCm39) I282T possibly damaging Het
Lamb1 T G 12: 31,379,434 (GRCm39) V1768G probably damaging Het
Nek9 A T 12: 85,350,257 (GRCm39) L939* probably null Het
Nfe2l2 A G 2: 75,508,869 (GRCm39) L122P probably damaging Het
Nin T C 12: 70,103,431 (GRCm39) M270V probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Nrde2 T C 12: 100,097,190 (GRCm39) Y870C probably benign Het
Nsmce2 A G 15: 59,287,927 (GRCm39) M71V probably benign Het
Ocstamp T C 2: 165,239,583 (GRCm39) H201R possibly damaging Het
Oog4 T C 4: 143,165,510 (GRCm39) I212M probably benign Het
Or11g2 G A 14: 50,856,015 (GRCm39) G112D probably damaging Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Osmr T C 15: 6,876,628 (GRCm39) T99A probably benign Het
Pdia4 A T 6: 47,773,741 (GRCm39) M536K probably benign Het
Pdyn A T 2: 129,530,438 (GRCm39) L77H probably damaging Het
Pikfyve T C 1: 65,290,837 (GRCm39) probably null Het
Plcb1 A G 2: 135,229,091 (GRCm39) E1105G probably damaging Het
Rb1 A T 14: 73,443,525 (GRCm39) D743E probably damaging Het
Rdh14 G A 12: 10,444,712 (GRCm39) V188I possibly damaging Het
Scd3 T C 19: 44,204,028 (GRCm39) V72A possibly damaging Het
Shld1 A T 2: 132,533,866 (GRCm39) probably benign Het
Slc25a27 G A 17: 43,972,575 (GRCm39) R104W probably damaging Het
Slc29a4 A G 5: 142,704,640 (GRCm39) D394G possibly damaging Het
Slco1a8 A T 6: 141,936,158 (GRCm39) I309N possibly damaging Het
Snx29 T G 16: 11,556,216 (GRCm39) M407R probably damaging Het
Syf2 A G 4: 134,662,363 (GRCm39) probably null Het
Syn1 T C X: 20,731,376 (GRCm39) Q321R probably benign Het
Tbc1d12 A T 19: 38,905,091 (GRCm39) D602V probably damaging Het
Tenm4 A T 7: 96,523,323 (GRCm39) I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 (GRCm39) probably benign Het
Trav6-2 G A 14: 52,904,889 (GRCm39) V8M possibly damaging Het
Unc119b A G 5: 115,272,813 (GRCm39) S53P probably benign Het
Vmp1 T A 11: 86,498,019 (GRCm39) I299F possibly damaging Het
Xpot T C 10: 121,449,485 (GRCm39) Y194C probably damaging Het
Zbtb10 T A 3: 9,345,525 (GRCm39) probably null Het
Other mutations in Cert1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16