Incidental Mutation 'R7193:Cert1'
ID 559740
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 045334-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7193 (G1)
Quality Score 225.009
Status Validated
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 A at 96767341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077672] [ENSMUST00000109444] [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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,265,963 (GRCm39) probably null Het
Abca16 T C 7: 120,026,409 (GRCm39) S124P probably damaging Het
Acan A T 7: 78,736,090 (GRCm39) S179C probably damaging Het
Atg2b A C 12: 105,630,967 (GRCm39) H319Q probably damaging Het
Bptf G A 11: 106,945,635 (GRCm39) Q2535* probably null Het
Brpf3 T C 17: 29,055,665 (GRCm39) *1205R probably null Het
Cabyr C A 18: 12,884,815 (GRCm39) P434Q probably damaging Het
Cacna1g C A 11: 94,300,057 (GRCm39) D2268Y possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cct4 A G 11: 22,947,111 (GRCm39) T201A probably benign Het
Cdyl2 A C 8: 117,350,733 (GRCm39) S133A probably benign Het
Cep76 A G 18: 67,774,204 (GRCm39) L14P possibly damaging Het
Crybg3 A T 16: 59,379,956 (GRCm39) S433T possibly damaging Het
Cul9 T C 17: 46,849,423 (GRCm39) K574R probably damaging Het
Cyp2u1 T C 3: 131,084,792 (GRCm39) I527V probably benign Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
F5 A G 1: 164,046,966 (GRCm39) N2142S probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Flnc A G 6: 29,450,870 (GRCm39) Y1506C probably damaging Het
Foxred2 T A 15: 77,836,230 (GRCm39) S376C probably damaging Het
Gbe1 T C 16: 70,292,258 (GRCm39) L530P probably damaging Het
Hmcn1 T C 1: 150,525,331 (GRCm39) R3398G probably null Het
Igf1r T C 7: 67,836,905 (GRCm39) L587P probably damaging Het
Ints15 A G 5: 143,293,598 (GRCm39) V293A probably benign Het
Kcna3 T C 3: 106,943,853 (GRCm39) Y39H probably benign Het
Krtap5-2 GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA GCTACAGCCTCCCTTGCA 7: 141,728,980 (GRCm39) probably benign Het
Mbl1 T C 14: 40,880,669 (GRCm39) F186L probably damaging Het
Ncam2 A T 16: 81,386,683 (GRCm39) K687N probably damaging Het
Nedd4l T C 18: 65,130,441 (GRCm39) V24A probably damaging Het
Nek1 A G 8: 61,526,612 (GRCm39) E661G probably damaging Het
Nudt14 G T 12: 112,902,940 (GRCm39) D28E probably benign Het
Or13n4 T C 7: 106,423,798 (GRCm39) probably benign Het
Or1j15 T A 2: 36,459,248 (GRCm39) C213S probably benign Het
Or2n1 T A 17: 38,485,987 (GRCm39) I4N probably benign Het
Or4k47 A T 2: 111,451,600 (GRCm39) V273E probably damaging Het
Pdk4 A T 6: 5,487,089 (GRCm39) M319K probably benign Het
Pfkp T C 13: 6,643,252 (GRCm39) N522S probably benign Het
Pias2 T C 18: 77,207,817 (GRCm39) V234A possibly damaging Het
Pik3c2b C A 1: 133,007,512 (GRCm39) H625Q probably benign Het
Pnpla7 T C 2: 24,941,627 (GRCm39) S1117P probably damaging Het
Prdm2 A T 4: 142,907,464 (GRCm39) V36D probably damaging Het
Prep C T 10: 44,968,795 (GRCm39) R98C probably benign Het
Rae1 T C 2: 172,850,110 (GRCm39) probably null Het
Rgs3 T A 4: 62,533,573 (GRCm39) V138E probably damaging Het
Rnf185 T C 11: 3,375,329 (GRCm39) T142A possibly damaging Het
Rsph6a C A 7: 18,799,572 (GRCm39) P401Q probably damaging Het
Runx3 A T 4: 134,848,456 (GRCm39) T14S probably benign Het
Scaf11 A G 15: 96,317,042 (GRCm39) S841P probably damaging Het
Spta1 T A 1: 174,012,178 (GRCm39) L328Q probably damaging Het
Sqor G A 2: 122,645,929 (GRCm39) V318M probably damaging Het
Stox2 T C 8: 47,639,489 (GRCm39) T902A probably benign Het
Susd3 T C 13: 49,384,679 (GRCm39) H248R probably damaging Het
Syne1 T C 10: 5,183,406 (GRCm39) Y4133C probably damaging Het
Tbc1d20 C T 2: 152,153,337 (GRCm39) T289M probably benign Het
Unc80 T A 1: 66,588,943 (GRCm39) F1036Y possibly damaging Het
Zbtb7c T C 18: 76,271,009 (GRCm39) C366R probably damaging Het
Zeb1 A T 18: 5,772,756 (GRCm39) D1015V probably damaging Het
Zfp606 T G 7: 12,227,966 (GRCm39) S696A 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
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
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
Predicted Primers PCR Primer
(F):5'- CACTGGCCGTCTTCCATTTAGATA -3'
(R):5'- TCAGGTTGTAATCATCTTCTTTCTCA -3'

Sequencing Primer
(F):5'- GATATAGCATAGGCATTCTACTTGC -3'
(R):5'- ACATCTGCTACACATATGCTGGGG -3'
Posted On 2019-06-26