Incidental Mutation 'IGL01865:Efcab2'
ID178473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efcab2
Ensembl Gene ENSMUSG00000026495
Gene NameEF-hand calcium binding domain 2
Synonyms1700073K01Rik, D830011E08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01865
Quality Score
Status
Chromosome1
Chromosomal Location178406085-178484513 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 178475688 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 91 (Y91*)
Ref Sequence ENSEMBL: ENSMUSP00000027775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027775]
Predicted Effect probably null
Transcript: ENSMUST00000027775
AA Change: Y91*
SMART Domains Protein: ENSMUSP00000027775
Gene: ENSMUSG00000026495
AA Change: Y91*

DomainStartEndE-ValueType
EFh 20 48 1.4e0 SMART
EFh 98 126 2.63e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192905
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 128,236,935 H162R probably damaging Het
Adamts10 T A 17: 33,553,166 M1096K probably damaging Het
Asap3 G T 4: 136,236,404 C325F probably damaging Het
Atm T C 9: 53,461,002 E2160G probably damaging Het
Col4a1 G A 8: 11,201,790 probably benign Het
Ctdp1 C T 18: 80,455,984 G248S probably damaging Het
Dcaf5 A T 12: 80,339,314 D679E probably benign Het
Eif3d G T 15: 77,967,346 T88K probably benign Het
Gapvd1 G A 2: 34,695,503 A1049V probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm18856 T A 13: 13,964,923 probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm9991 A G 1: 90,678,913 noncoding transcript Het
Hapln1 T C 13: 89,601,665 Y110H probably damaging Het
Htr1f A G 16: 64,925,919 Y337H probably damaging Het
Kirrel T A 3: 87,086,424 S509C probably damaging Het
Limch1 A T 5: 66,974,580 R138* probably null Het
Lypla1 A C 1: 4,837,036 I108L probably damaging Het
Mc3r A G 2: 172,249,055 N66D probably damaging Het
Melk T A 4: 44,344,988 C373S probably benign Het
Myocd C A 11: 65,200,897 S73I probably benign Het
Nell2 A G 15: 95,385,081 V360A possibly damaging Het
Npas4 G A 19: 4,985,791 Q782* probably null Het
Olfr1352 A T 10: 78,984,678 D296V possibly damaging Het
Pdzd8 T C 19: 59,299,645 K1108E possibly damaging Het
Per2 A G 1: 91,421,517 I1044T probably benign Het
Pgm3 A G 9: 86,555,318 F501S possibly damaging Het
Ppp1r3c A G 19: 36,734,178 V64A probably benign Het
Ptpn6 A T 6: 124,732,465 I15N probably damaging Het
Pxk T C 14: 8,136,923 V148A possibly damaging Het
Rngtt T A 4: 33,325,157 probably benign Het
Rtkn2 T G 10: 68,035,875 S364R probably benign Het
Rtn1 A C 12: 72,219,300 L167R probably damaging Het
Sp2 G A 11: 96,961,042 T352I probably damaging Het
Tbc1d17 A G 7: 44,842,689 M459T possibly damaging Het
Tbcd T A 11: 121,590,380 M694K possibly damaging Het
Tln2 G A 9: 67,250,614 R1148* probably null Het
Trim27 T C 13: 21,192,492 V294A probably damaging Het
Tspyl5 G T 15: 33,687,712 A29E unknown Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vrk2 C T 11: 26,535,560 V143I possibly damaging Het
Zfp952 G A 17: 33,002,817 R52Q probably benign Het
Zfp979 A T 4: 147,615,317 D55E probably benign Het
Other mutations in Efcab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Efcab2 APN 1 178437392 splice site probably benign
IGL03122:Efcab2 APN 1 178437477 missense probably damaging 1.00
R0153:Efcab2 UTSW 1 178474886 missense possibly damaging 0.87
R0309:Efcab2 UTSW 1 178475904 splice site probably benign
R0652:Efcab2 UTSW 1 178481346 missense probably damaging 1.00
R1115:Efcab2 UTSW 1 178437497 splice site probably benign
R5952:Efcab2 UTSW 1 178475874 missense probably benign 0.09
R6313:Efcab2 UTSW 1 178481371 missense probably benign 0.01
R6679:Efcab2 UTSW 1 178437404 missense probably benign 0.00
R7021:Efcab2 UTSW 1 178481360 missense probably benign 0.00
Posted On2014-05-07