Incidental Mutation 'R6034:Cert1'
ID 486462
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 044206-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6034 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 96679126-96776675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 96746308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 236 (I236L)
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: I236L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: I236L

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: I236L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: I236L

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: I236L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: I236L

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 0.0720 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (55/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 G T 1: 34,760,984 (GRCm39) G80V unknown Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Atad2 A T 15: 57,971,959 (GRCm39) L306Q probably damaging Het
Atp2b4 T A 1: 133,659,645 (GRCm39) probably null Het
Atp6v1c2 C A 12: 17,357,501 (GRCm39) G95V possibly damaging Het
Birc6 T A 17: 74,922,278 (GRCm39) V2192E probably damaging Het
Catsperb A G 12: 101,542,091 (GRCm39) E597G probably benign Het
Ccdc40 A G 11: 119,133,898 (GRCm39) M556V possibly damaging Het
Ccin G A 4: 43,985,354 (GRCm39) R587K probably benign Het
Cdipt T G 7: 126,577,497 (GRCm39) V81G probably damaging Het
Cfh T C 1: 140,090,869 (GRCm39) K40E probably damaging Het
Cps1 T A 1: 67,196,872 (GRCm39) probably null Het
Dnah7c A T 1: 46,496,418 (GRCm39) D101V probably benign Het
Fastkd3 T A 13: 68,731,729 (GRCm39) W17R probably damaging Het
Gapdh T C 6: 125,142,261 (GRCm39) D25G probably benign Het
H1f4 A G 13: 23,806,296 (GRCm39) L62P probably damaging Het
H2-Ob T C 17: 34,460,192 (GRCm39) V30A probably damaging Het
Hmgxb3 T A 18: 61,265,594 (GRCm39) H1128L probably damaging Het
Hspbp1 A T 7: 4,680,711 (GRCm39) I255N probably damaging Het
Imp4 A G 1: 34,482,537 (GRCm39) D91G probably damaging Het
Itprid1 T A 6: 55,944,666 (GRCm39) D462E possibly damaging Het
Kcnip4 G T 5: 48,548,283 (GRCm39) R241S possibly damaging Het
Lilra5 T C 7: 4,245,133 (GRCm39) L259P probably benign Het
Lipf T C 19: 33,942,289 (GRCm39) I73T probably benign Het
Lsm7 T C 10: 80,688,742 (GRCm39) probably null Het
Luzp2 T A 7: 54,816,972 (GRCm39) L141M probably damaging Het
Malrd1 T A 2: 15,850,137 (GRCm39) V1252E possibly damaging Het
Map10 T C 8: 126,399,205 (GRCm39) L866P probably damaging Het
Mink1 AAGCAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAGCAG 11: 70,497,866 (GRCm39) probably benign Het
Mpp2 T C 11: 101,952,460 (GRCm39) I355V possibly damaging Het
Mtrf1l T A 10: 5,773,834 (GRCm39) probably benign Het
Myo5c A T 9: 75,163,187 (GRCm39) T339S probably benign Het
Naa15 A G 3: 51,350,242 (GRCm39) D163G probably damaging Het
Oosp2 A G 19: 11,628,879 (GRCm39) F74S probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4f7 T A 2: 111,644,702 (GRCm39) Y123F probably damaging Het
Pard3 C G 8: 127,791,077 (GRCm39) probably benign Het
Pcdha1 T A 18: 37,063,651 (GRCm39) I105N probably damaging Het
Pcdhgb8 A G 18: 37,895,601 (GRCm39) T224A possibly damaging Het
Phf12 A G 11: 77,908,895 (GRCm39) N325S probably benign Het
Prom1 T A 5: 44,201,750 (GRCm39) probably null Het
Raet1e A G 10: 22,057,990 (GRCm39) *252W probably null Het
Sap130 T C 18: 31,822,459 (GRCm39) V655A possibly damaging Het
Sec16b A T 1: 157,380,509 (GRCm39) K360I probably damaging Het
Sec23ip C T 7: 128,351,927 (GRCm39) T101I possibly damaging Het
Selenoo A G 15: 88,983,546 (GRCm39) K529R probably benign Het
Slc22a15 A G 3: 101,770,235 (GRCm39) F451L possibly damaging Het
St6gal2 T A 17: 55,789,982 (GRCm39) S339T probably benign Het
Stard13 A T 5: 151,018,965 (GRCm39) probably null Het
Synm A G 7: 67,384,653 (GRCm39) V561A probably damaging Het
Tc2n A T 12: 101,617,460 (GRCm39) probably null Het
Ugt2b36 T A 5: 87,229,377 (GRCm39) D236V probably damaging Het
Vmn1r65 A G 7: 6,011,868 (GRCm39) L122P probably damaging Het
Zc3h14 T C 12: 98,737,632 (GRCm39) S40P probably benign Het
Zc3hav1l C A 6: 38,272,215 (GRCm39) G185C probably damaging Het
Zfp563 G A 17: 33,323,935 (GRCm39) A177T 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
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'- CTCAAAGCTTTGCTCACTGCG -3'
(R):5'- TATCTAGCCAGAGGTCCTTCC -3'

Sequencing Primer
(F):5'- CAAAGCTTTGCTCACTGCGTAGAG -3'
(R):5'- AGAGGTCCTTCCCCTTTGAAATTAG -3'
Posted On 2017-08-16