Incidental Mutation 'R0218:Efcab12'
ID 271561
Institutional Source Beutler Lab
Gene Symbol Efcab12
Ensembl Gene ENSMUSG00000030321
Gene Name EF-hand calcium binding domain 12
Synonyms BC060267
MMRRC Submission 038467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0218 (G1)
Quality Score 216
Status Validated
Chromosome 6
Chromosomal Location 115787695-115815177 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 115791611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032468] [ENSMUST00000124531] [ENSMUST00000184428]
AlphaFold V9GXH0
Predicted Effect silent
Transcript: ENSMUST00000032468
SMART Domains Protein: ENSMUSP00000138850
Gene: ENSMUSG00000030321

DomainStartEndE-ValueType
SCOP:d1mr8a_ 302 344 1e-3 SMART
low complexity region 438 445 N/A INTRINSIC
low complexity region 566 578 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124531
SMART Domains Protein: ENSMUSP00000139385
Gene: ENSMUSG00000030321

DomainStartEndE-ValueType
SCOP:d1mr8a_ 302 344 3e-4 SMART
Predicted Effect silent
Transcript: ENSMUST00000184428
SMART Domains Protein: ENSMUSP00000139144
Gene: ENSMUSG00000030321

DomainStartEndE-ValueType
SCOP:d1mr8a_ 302 344 1e-3 SMART
low complexity region 438 445 N/A INTRINSIC
low complexity region 566 578 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,079,477 (GRCm39) Q249P probably benign Het
Adgrv1 C T 13: 81,255,017 (GRCm39) probably null Het
Ccdc110 A G 8: 46,387,761 (GRCm39) probably benign Het
Cd200r1 T A 16: 44,609,106 (GRCm39) probably benign Het
Cdkl1 A T 12: 69,836,809 (GRCm39) D40E probably benign Het
Cdx1 A G 18: 61,153,436 (GRCm39) probably benign Het
Cenpp T A 13: 49,801,108 (GRCm39) K103N possibly damaging Het
Cep162 A G 9: 87,093,862 (GRCm39) Y839H possibly damaging Het
Chac1 T A 2: 119,183,941 (GRCm39) L181* probably null Het
Ciapin1 G T 8: 95,554,938 (GRCm39) Q173K probably damaging Het
Cmklr2 T A 1: 63,222,690 (GRCm39) N182Y probably benign Het
Dgcr2 A G 16: 17,667,650 (GRCm39) C270R probably damaging Het
Dlc1 A G 8: 37,317,383 (GRCm39) S431P probably benign Het
Ehbp1 A T 11: 22,181,992 (GRCm39) probably benign Het
Enpp3 A T 10: 24,652,767 (GRCm39) V730D possibly damaging Het
Fam174b A G 7: 73,390,512 (GRCm39) T88A probably benign Het
Fancl A G 11: 26,421,337 (GRCm39) K364E probably benign Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Galc A G 12: 98,188,906 (GRCm39) Y402H probably damaging Het
Gga2 T C 7: 121,598,123 (GRCm39) N324D possibly damaging Het
Hc G T 2: 34,918,086 (GRCm39) F732L probably damaging Het
Heca T C 10: 17,791,463 (GRCm39) M198V probably benign Het
Herc6 C A 6: 57,596,586 (GRCm39) H509N probably benign Het
Irf2bpl A T 12: 86,929,398 (GRCm39) M425K probably benign Het
Mael C T 1: 166,066,159 (GRCm39) G26D probably damaging Het
Map1a A G 2: 121,135,906 (GRCm39) T2241A probably benign Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Mdga2 A G 12: 66,701,894 (GRCm39) S505P probably damaging Het
Mdm1 A G 10: 117,992,783 (GRCm39) probably benign Het
Mex3b A T 7: 82,518,312 (GRCm39) E209V probably damaging Het
Mrgprx3-ps T C 7: 46,959,154 (GRCm39) E279G possibly damaging Het
Ms4a20 A T 19: 11,093,801 (GRCm39) Y10* probably null Het
Nfe2l1 A T 11: 96,718,439 (GRCm39) L32Q probably damaging Het
Npas1 C T 7: 16,195,818 (GRCm39) V285I probably benign Het
Or5e1 T A 7: 108,354,781 (GRCm39) C239* probably null Het
Or5h19 C T 16: 58,856,456 (GRCm39) V215I probably benign Het
Or9i14 T C 19: 13,792,342 (GRCm39) N204S probably benign Het
Osr1 A G 12: 9,629,639 (GRCm39) T171A probably benign Het
Ppp3cb A T 14: 20,574,044 (GRCm39) C265S probably damaging Het
Pramel27 A G 4: 143,578,401 (GRCm39) I220M probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Simc1 T C 13: 54,674,417 (GRCm39) Y922H probably damaging Het
Slc25a39 A G 11: 102,297,056 (GRCm39) F56L probably benign Het
Smg8 A G 11: 86,976,948 (GRCm39) L211P probably damaging Het
Sncaip A G 18: 53,040,400 (GRCm39) S805G probably benign Het
Sra1 T C 18: 36,809,662 (GRCm39) probably benign Het
Tas2r104 T G 6: 131,662,055 (GRCm39) D218A probably damaging Het
Unc45b A G 11: 82,802,686 (GRCm39) probably benign Het
Unc79 A G 12: 103,075,040 (GRCm39) probably null Het
Washc2 T A 6: 116,225,007 (GRCm39) L785* probably null Het
Zfp30 A G 7: 29,493,063 (GRCm39) E439G probably damaging Het
Zfp518a A G 19: 40,901,072 (GRCm39) T334A probably benign Het
Other mutations in Efcab12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Efcab12 APN 6 115,800,625 (GRCm39) missense probably benign 0.00
IGL02748:Efcab12 APN 6 115,797,063 (GRCm39) missense probably damaging 0.97
IGL03148:Efcab12 APN 6 115,787,952 (GRCm39) missense probably damaging 1.00
R0366:Efcab12 UTSW 6 115,800,209 (GRCm39) splice site probably benign
R2847:Efcab12 UTSW 6 115,788,072 (GRCm39) missense probably damaging 0.97
R4674:Efcab12 UTSW 6 115,800,610 (GRCm39) missense probably damaging 0.99
R4707:Efcab12 UTSW 6 115,791,510 (GRCm39) missense possibly damaging 0.87
R5145:Efcab12 UTSW 6 115,800,238 (GRCm39) missense probably damaging 0.98
R5185:Efcab12 UTSW 6 115,800,451 (GRCm39) missense probably benign 0.00
R6168:Efcab12 UTSW 6 115,791,577 (GRCm39) missense probably damaging 0.97
R6960:Efcab12 UTSW 6 115,815,273 (GRCm39) unclassified probably benign
R7187:Efcab12 UTSW 6 115,800,474 (GRCm39) missense not run
R7297:Efcab12 UTSW 6 115,787,997 (GRCm39) missense possibly damaging 0.85
R7324:Efcab12 UTSW 6 115,800,555 (GRCm39) missense probably benign 0.30
R7715:Efcab12 UTSW 6 115,800,504 (GRCm39) missense possibly damaging 0.85
R7996:Efcab12 UTSW 6 115,800,378 (GRCm39) missense probably benign 0.30
R8418:Efcab12 UTSW 6 115,799,076 (GRCm39) critical splice donor site probably null
R8527:Efcab12 UTSW 6 115,791,535 (GRCm39) missense probably benign 0.02
R8923:Efcab12 UTSW 6 115,787,982 (GRCm39) missense possibly damaging 0.58
R8924:Efcab12 UTSW 6 115,800,664 (GRCm39) missense probably benign 0.00
R9364:Efcab12 UTSW 6 115,814,975 (GRCm39) missense probably benign 0.00
R9433:Efcab12 UTSW 6 115,792,995 (GRCm39) missense probably benign 0.03
R9762:Efcab12 UTSW 6 115,800,331 (GRCm39) missense possibly damaging 0.72
Predicted Primers
Posted On 2015-03-23