Incidental Mutation 'R5060:Cert1'
ID 458164
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 042650-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5060 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 96679126-96776675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96739663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 226 (K226N)
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: K226N

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: K226N

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: K226N

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: K226N

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: K226N

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: K226N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223019
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 98% (52/53)
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
A530064D06Rik A T 17: 48,474,107 (GRCm39) L17Q probably damaging Het
Abca6 A G 11: 110,110,430 (GRCm39) V573A possibly damaging Het
Abcc9 A G 6: 142,571,836 (GRCm39) probably benign Het
Actg1 A G 11: 120,237,839 (GRCm39) S234P probably benign Het
Acvr2a A G 2: 48,780,311 (GRCm39) D177G probably damaging Het
Adamts12 T C 15: 11,300,054 (GRCm39) C914R probably damaging Het
Adprhl1 A G 8: 13,298,621 (GRCm39) I103T possibly damaging Het
Als2cl C T 9: 110,713,205 (GRCm39) L32F probably damaging Het
Ank2 T C 3: 126,739,570 (GRCm39) probably benign Het
Ankrd52 T A 10: 128,225,710 (GRCm39) S959R possibly damaging Het
Bnc2 C A 4: 84,449,872 (GRCm39) A122S probably benign Het
Cfap54 C T 10: 92,875,013 (GRCm39) V443M probably damaging Het
Cilk1 C T 9: 78,060,978 (GRCm39) T208I probably benign Het
Clca4b T A 3: 144,617,267 (GRCm39) R794S probably damaging Het
Cyp2c65 T C 19: 39,049,514 (GRCm39) L14P unknown Het
Ggt5 T C 10: 75,440,608 (GRCm39) M243T probably benign Het
Gmds A G 13: 32,124,482 (GRCm39) I292T probably benign Het
Gpcpd1 A T 2: 132,386,355 (GRCm39) V341E probably damaging Het
Grm3 A G 5: 9,620,167 (GRCm39) F359S probably damaging Het
Hcn1 A T 13: 118,010,441 (GRCm39) K340* probably null Het
Heatr9 T C 11: 83,403,258 (GRCm39) E427G probably benign Het
Kif26b G A 1: 178,358,195 (GRCm39) G102D unknown Het
Mark3 T C 12: 111,584,760 (GRCm39) F119L probably damaging Het
Melk T C 4: 44,350,959 (GRCm39) V500A probably benign Het
Mrpl41 A G 2: 24,864,295 (GRCm39) F126L probably damaging Het
Or10c1 C A 17: 37,522,307 (GRCm39) A146S probably benign Het
Or6c3b C T 10: 129,527,699 (GRCm39) M70I probably benign Het
Pax7 A T 4: 139,506,928 (GRCm39) S372T probably benign Het
Pax7 A T 4: 139,556,906 (GRCm39) I118N probably damaging Het
Plcl1 G T 1: 55,735,671 (GRCm39) M337I possibly damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Rabgef1 A G 5: 130,240,844 (GRCm39) Y321C probably damaging Het
Rhobtb3 A C 13: 76,061,389 (GRCm39) L252R probably benign Het
Rlf A G 4: 121,004,063 (GRCm39) V1639A probably benign Het
Tff1 A G 17: 31,381,682 (GRCm39) V65A probably damaging Het
Trpm4 G T 7: 44,971,258 (GRCm39) D222E probably damaging Het
Ttn A T 2: 76,643,741 (GRCm39) D13162E probably damaging Het
Unc5d A T 8: 29,209,723 (GRCm39) S466T probably benign Het
Vmn1r73 A G 7: 11,490,683 (GRCm39) Y167C probably damaging Het
Vwde C T 6: 13,208,323 (GRCm39) probably null Het
Xpr1 T C 1: 155,204,430 (GRCm39) probably null Het
Zbtb40 A G 4: 136,728,604 (GRCm39) V413A possibly 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
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
Predicted Primers PCR Primer
(F):5'- GTATCTTGAGAACCAGTGAAAACAC -3'
(R):5'- TTTAGAACCAGCCTTAAGTAGAGAG -3'

Sequencing Primer
(F):5'- CACAGAAGATGGATAAGTGCTTATGC -3'
(R):5'- AGCCTTAAGTAGAGAGCAAACC -3'
Posted On 2017-02-17