Incidental Mutation 'R9141:Cert1'
ID 694359
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 068933-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9141 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 96679126-96776675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96753568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 393 (F393I)
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: F393I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: F393I

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
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 benign
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
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,851,264 (GRCm39) D2159G possibly damaging Het
Adamts8 A G 9: 30,864,721 (GRCm39) Y404C possibly damaging Het
Arhgef16 A C 4: 154,366,300 (GRCm39) L489R probably damaging Het
BC034090 C T 1: 155,108,474 (GRCm39) probably benign Het
Cdc25b T C 2: 131,033,857 (GRCm39) probably null Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cttnbp2 A T 6: 18,429,138 (GRCm39) C163* probably null Het
Dclre1a A T 19: 56,533,542 (GRCm39) F351I probably damaging Het
Ddx46 T A 13: 55,823,892 (GRCm39) Y933N probably damaging Het
Dnai4 A T 4: 102,906,743 (GRCm39) I690N probably damaging Het
Eif2b3 C A 4: 116,923,578 (GRCm39) Y264* probably null Het
Esco1 T C 18: 10,594,731 (GRCm39) K185R possibly damaging Het
F11 A G 8: 45,703,092 (GRCm39) probably null Het
Fmo2 T C 1: 162,709,623 (GRCm39) M255V probably null Het
Hdac7 T C 15: 97,697,649 (GRCm39) T677A probably benign Het
Iqcn C T 8: 71,162,421 (GRCm39) T538M probably benign Het
Krt84 C A 15: 101,440,974 (GRCm39) V73F probably benign Het
Lamc1 A G 1: 153,123,196 (GRCm39) Y665H probably benign Het
Lrrc27 A G 7: 138,807,861 (GRCm39) I323V probably benign Het
Ltbp1 C T 17: 75,598,309 (GRCm39) R597W possibly damaging Het
Nfib T G 4: 82,416,529 (GRCm39) T170P probably damaging Het
Nufip1 A T 14: 76,370,413 (GRCm39) E371D possibly damaging Het
Optn T A 2: 5,059,485 (GRCm39) E11V possibly damaging Het
Or4d2b A T 11: 87,780,056 (GRCm39) L222Q probably damaging Het
Pdha2 T C 3: 140,917,211 (GRCm39) E99G probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prox1 T C 1: 189,892,511 (GRCm39) probably null Het
Ptbp1 T A 10: 79,694,897 (GRCm39) I75N probably damaging Het
R3hdm1 T C 1: 128,164,212 (GRCm39) L1042P probably damaging Het
Ralgapb A T 2: 158,262,811 (GRCm39) Q16H possibly damaging Het
Scmh1 T C 4: 120,362,556 (GRCm39) V264A probably benign Het
Sec23a A G 12: 59,053,890 (GRCm39) V36A probably benign Het
Serpina3a A G 12: 104,087,649 (GRCm39) N191D probably benign Het
Slc10a7 T A 8: 79,236,241 (GRCm39) M13K probably benign Het
Slco2a1 G T 9: 102,945,254 (GRCm39) probably benign Het
Smchd1 C T 17: 71,672,125 (GRCm39) S1643N probably benign Het
Smok2b G A 17: 13,453,637 (GRCm39) probably null Het
Spata31h1 T A 10: 82,126,610 (GRCm39) K2133N probably damaging Het
St6galnac6 T C 2: 32,505,094 (GRCm39) I202T probably damaging Het
Stab2 T C 10: 86,704,911 (GRCm39) K1819R probably damaging Het
Strn3 T C 12: 51,694,873 (GRCm39) T297A probably damaging Het
Sult1b1 T A 5: 87,665,280 (GRCm39) E218V probably damaging Het
Urb2 T G 8: 124,755,285 (GRCm39) L331V probably damaging Het
Vmn1r86 A T 7: 12,836,789 (GRCm39) L29* probably null Het
Vmn2r52 G T 7: 9,905,331 (GRCm39) Y169* probably null Het
Zfp592 A T 7: 80,674,205 (GRCm39) T390S 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
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
R9615:Cert1 UTSW 13 96,767,334 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- TGCCTGCTTCATACAGTGC -3'
(R):5'- ATGCCACGCTACTCCTAGTG -3'

Sequencing Primer
(F):5'- TGCTTCATACAGTGCTTGTTTTC -3'
(R):5'- GGGACATGCAAGGCTGAC -3'
Posted On 2022-01-20