Incidental Mutation 'IGL02285:Cert1'
ID 289956
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 # IGL02285
Quality Score
Status
Chromosome 13
Chromosomal Location 96679126-96776675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96752990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 348 (H348R)
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: H348R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: H348R

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: H348R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: H348R

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: H348R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: H348R

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: ENSMUST00000220464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222434
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,244,670 (GRCm39) V672A possibly damaging Het
Arhgef28 A T 13: 98,187,536 (GRCm39) V253D possibly damaging Het
Atg3 G A 16: 44,998,680 (GRCm39) probably benign Het
Camsap1 T C 2: 25,819,814 (GRCm39) D1557G probably damaging Het
Cdh20 A G 1: 110,065,921 (GRCm39) T732A probably damaging Het
Cyp3a13 T A 5: 137,908,229 (GRCm39) I207F probably benign Het
Dock1 T G 7: 134,683,649 (GRCm39) probably null Het
Drc7 A T 8: 95,797,861 (GRCm39) probably benign Het
Drosha C A 15: 12,833,950 (GRCm39) P18H unknown Het
Fbxl5 A G 5: 43,922,690 (GRCm39) S243P possibly damaging Het
Filip1 A G 9: 79,727,408 (GRCm39) C404R probably damaging Het
Gm5745 G A 9: 73,082,780 (GRCm39) noncoding transcript Het
Gm7808 T G 9: 19,839,347 (GRCm39) probably benign Het
Gpi-ps C T 8: 5,690,373 (GRCm39) noncoding transcript Het
Hcn3 T C 3: 89,060,119 (GRCm39) D175G probably damaging Het
Igkv1-117 A T 6: 68,098,519 (GRCm39) M23L probably benign Het
Kif26a A G 12: 112,123,941 (GRCm39) D182G probably damaging Het
Lmbr1 A G 5: 29,459,233 (GRCm39) probably benign Het
Lypd4 T A 7: 24,564,865 (GRCm39) Q91L probably damaging Het
Ncoa5 C T 2: 164,844,760 (GRCm39) A37T probably damaging Het
Or52ad1 G A 7: 102,995,245 (GRCm39) R297* probably null Het
Or56b1 A G 7: 104,284,932 (GRCm39) E17G probably benign Het
Or7g17 T A 9: 18,768,286 (GRCm39) C122S possibly damaging Het
Ppp1r18 A G 17: 36,178,148 (GRCm39) K8E probably damaging Het
Ppp3ca A G 3: 136,634,387 (GRCm39) probably benign Het
Ptpn12 T A 5: 21,260,711 (GRCm39) Q12L probably benign Het
Rpgrip1l A G 8: 91,959,535 (GRCm39) F1122L possibly damaging Het
Rps15 G T 10: 80,129,596 (GRCm39) M43I probably benign Het
Rrp15 T C 1: 186,453,592 (GRCm39) probably benign Het
Sash1 A T 10: 8,616,098 (GRCm39) M588K probably damaging Het
Slc12a7 A G 13: 73,943,714 (GRCm39) probably benign Het
Slc25a13 A G 6: 6,042,643 (GRCm39) V587A possibly damaging Het
Sugct T C 13: 17,847,181 (GRCm39) D34G possibly damaging Het
Tdpoz2 T A 3: 93,559,598 (GRCm39) I125F probably damaging Het
Trim52 T A 14: 106,344,702 (GRCm39) L120Q probably damaging Het
Vmn1r85 T C 7: 12,818,711 (GRCm39) I144M probably damaging Het
Vmn2r107 T C 17: 20,595,823 (GRCm39) F792S probably damaging Het
Vsnl1 A G 12: 11,436,878 (GRCm39) F34L probably damaging 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
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