Incidental Mutation 'IGL03288:Cert1'
ID 415793
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 # IGL03288
Quality Score
Status
Chromosome 13
Chromosomal Location 96679126-96776675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96770700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 536 (D536E)
Ref Sequence ENSEMBL: ENSMUSP00000076856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077672] [ENSMUST00000109444] [ENSMUST00000179226]
AlphaFold Q9EQG9
Predicted Effect probably benign
Transcript: ENSMUST00000077672
AA Change: D536E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: D536E

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 benign
Transcript: ENSMUST00000109444
AA Change: D510E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: D510E

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 benign
Transcript: ENSMUST00000179226
AA Change: D510E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: D510E

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: ENSMUST00000221394
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,761,959 (GRCm39) K1589R probably benign Het
Armc3 T C 2: 19,240,293 (GRCm39) F17L probably damaging Het
Ccdc17 T A 4: 116,456,626 (GRCm39) L465H probably damaging Het
Cdh9 A T 15: 16,856,135 (GRCm39) D725V probably damaging Het
Chl1 C T 6: 103,652,058 (GRCm39) R309C probably damaging Het
Dbt T A 3: 116,341,847 (GRCm39) *483K probably null Het
Ddx46 A G 13: 55,785,907 (GRCm39) D29G unknown Het
Des T C 1: 75,338,985 (GRCm39) I222T possibly damaging Het
Dnah8 A G 17: 30,891,323 (GRCm39) N776S probably benign Het
Fbn1 A T 2: 125,145,103 (GRCm39) L2712Q probably benign Het
Glb1l3 A C 9: 26,729,601 (GRCm39) V622G probably damaging Het
Grin2a T C 16: 9,487,704 (GRCm39) D398G possibly damaging Het
Itgb3 T C 11: 104,524,293 (GRCm39) M143T probably damaging Het
Lama2 G A 10: 27,245,047 (GRCm39) R245C probably damaging Het
Lgals9 G A 11: 78,875,626 (GRCm39) A6V probably benign Het
Lman2l A T 1: 36,482,628 (GRCm39) Y83N probably damaging Het
Lrp2 T A 2: 69,256,383 (GRCm39) T4586S probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Myo18b A C 5: 112,937,863 (GRCm39) L1754R probably damaging Het
Myom2 T C 8: 15,172,679 (GRCm39) L1202S probably damaging Het
Nav3 T C 10: 109,594,878 (GRCm39) E1441G probably damaging Het
Nme8 T C 13: 19,880,776 (GRCm39) E60G possibly damaging Het
Npffr2 G T 5: 89,731,020 (GRCm39) A317S probably damaging Het
Nrxn2 A G 19: 6,540,726 (GRCm39) D893G probably damaging Het
Nup153 T C 13: 46,858,681 (GRCm39) E410G possibly damaging Het
Or11h7 T C 14: 50,890,832 (GRCm39) I46T possibly damaging Het
Or7e178 A G 9: 20,247,207 (GRCm39) probably null Het
Pcdhb10 A G 18: 37,546,358 (GRCm39) D478G probably damaging Het
Phf13 T C 4: 152,076,826 (GRCm39) D122G possibly damaging Het
Pkhd1 A T 1: 20,271,243 (GRCm39) H3103Q probably benign Het
Prr11 A C 11: 86,987,787 (GRCm39) probably null Het
Rac3 C T 11: 120,614,092 (GRCm39) T118M possibly damaging Het
Rad54b T C 4: 11,569,833 (GRCm39) S50P possibly damaging Het
Rp1 T C 1: 4,419,747 (GRCm39) Q455R possibly damaging Het
Semp2l1 T A 1: 32,584,841 (GRCm39) E356D probably benign Het
Sorl1 T C 9: 41,944,858 (GRCm39) probably benign Het
Spink5 A T 18: 44,147,827 (GRCm39) I858F possibly damaging Het
Stxbp5 A T 10: 9,742,447 (GRCm39) probably null Het
Svep1 A C 4: 58,116,532 (GRCm39) V906G probably benign Het
Tlr4 A G 4: 66,757,990 (GRCm39) E261G probably damaging Het
Zfp704 C T 3: 9,504,951 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,580,996 (GRCm39) probably benign 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
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
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 2016-08-02