Incidental Mutation 'IGL02419:Efcab9'
ID292586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efcab9
Ensembl Gene ENSMUSG00000044056
Gene NameEF-hand calcium binding domain 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.038) question?
Stock #IGL02419
Quality Score
Status
Chromosome11
Chromosomal Location32522751-32532081 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32522950 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 166 (I166V)
Ref Sequence ENSEMBL: ENSMUSP00000060205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054327] [ENSMUST00000109377]
Predicted Effect probably benign
Transcript: ENSMUST00000054327
AA Change: I166V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000060205
Gene: ENSMUSG00000044056
AA Change: I166V

DomainStartEndE-ValueType
SCOP:d2sas__ 46 182 7e-9 SMART
Blast:EFh 63 91 1e-7 BLAST
Blast:EFh 140 170 5e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109377
SMART Domains Protein: ENSMUSP00000105002
Gene: ENSMUSG00000044056

DomainStartEndE-ValueType
Blast:EFh 1 26 3e-7 BLAST
SCOP:d2sas__ 2 88 2e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 87,586,099 F171L possibly damaging Het
Abca2 A G 2: 25,446,837 N2291D probably benign Het
Adamts9 A G 6: 92,796,997 V1145A probably benign Het
Adcy2 A G 13: 68,982,363 V135A probably benign Het
Akr1c14 A T 13: 4,080,617 probably null Het
Aptx G T 4: 40,691,032 A229E probably benign Het
Ash1l T C 3: 88,985,565 S1584P probably benign Het
Catsper3 A T 13: 55,808,068 T329S possibly damaging Het
Cntrl A G 2: 35,134,043 D27G probably damaging Het
Cobll1 A T 2: 65,151,048 I98K probably damaging Het
Ctdp1 T C 18: 80,420,584 K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 probably null Het
Cyp11b2 A T 15: 74,851,055 F498Y probably damaging Het
Dnpep A G 1: 75,315,688 I162T probably damaging Het
Ep400 A T 5: 110,697,376 probably null Het
Gata6 G A 18: 11,054,220 G50R probably damaging Het
Gm9631 G A 11: 121,943,652 Het
Grifin T C 5: 140,564,700 T20A probably benign Het
Hnf4a A T 2: 163,566,282 I352F probably damaging Het
Ifi204 T C 1: 173,749,380 T552A possibly damaging Het
Ifi205 C T 1: 174,017,614 A201T probably damaging Het
Kcnk6 A G 7: 29,225,202 V259A probably benign Het
Kif21b A G 1: 136,151,267 N451S probably benign Het
Klhl24 T A 16: 20,107,368 Y215* probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mical1 A G 10: 41,482,277 K429E possibly damaging Het
Misp A G 10: 79,827,871 probably benign Het
Mon2 T C 10: 123,016,447 N1007S probably benign Het
Olfr1420 A T 19: 11,896,822 Y267F probably benign Het
Olfr228 T A 2: 86,482,915 I276F probably damaging Het
Olfr307 C A 7: 86,335,662 V245F probably damaging Het
Olfr624 A T 7: 103,670,475 C185* probably null Het
Pex6 C A 17: 46,724,435 T840N possibly damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rapgef3 G T 15: 97,750,290 N679K probably benign Het
Serpina3n T C 12: 104,413,518 V390A possibly damaging Het
Sirpb1a A G 3: 15,426,338 F23S probably benign Het
Slc44a3 T C 3: 121,490,257 T449A probably benign Het
Smad6 G A 9: 63,953,518 probably benign Het
Sos2 C T 12: 69,616,990 M573I probably benign Het
St8sia1 A T 6: 142,828,935 I306N probably damaging Het
Tnks1bp1 T C 2: 85,071,781 S1674P possibly damaging Het
Trim47 G A 11: 116,106,201 R576W probably damaging Het
Wdr86 A T 5: 24,722,704 I79N probably damaging Het
Wwp2 T A 8: 107,549,815 V473D probably damaging Het
Zc3h12a T C 4: 125,119,788 T428A probably benign Het
Zfp592 A G 7: 81,038,245 E973G probably damaging Het
Other mutations in Efcab9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01700:Efcab9 APN 11 32527451 missense probably damaging 1.00
R1764:Efcab9 UTSW 11 32524457 missense possibly damaging 0.88
R3081:Efcab9 UTSW 11 32523689 missense probably benign 0.01
R3751:Efcab9 UTSW 11 32527420 missense probably benign 0.05
R5237:Efcab9 UTSW 11 32522832 missense probably benign 0.01
R5375:Efcab9 UTSW 11 32527484 missense probably damaging 1.00
R5475:Efcab9 UTSW 11 32522862 missense probably damaging 0.96
Posted On2015-04-16