Incidental Mutation 'IGL02247:Efhb'
ID 286236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efhb
Ensembl Gene ENSMUSG00000023931
Gene Name EF hand domain family, member B
Synonyms 4921525D22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02247
Quality Score
Status
Chromosome 17
Chromosomal Location 53705917-53770349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53708652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 673 (V673I)
Ref Sequence ENSEMBL: ENSMUSP00000024725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024725]
AlphaFold Q8CDU5
Predicted Effect probably benign
Transcript: ENSMUST00000024725
AA Change: V673I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: V673I

DomainStartEndE-ValueType
low complexity region 565 574 N/A INTRINSIC
EFh 585 613 2.14e-1 SMART
EFh 621 649 1.98e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,974,905 (GRCm39) R177G probably damaging Het
Ap3b1 T C 13: 94,531,303 (GRCm39) probably null Het
Ascc3 A C 10: 50,526,686 (GRCm39) K595T probably damaging Het
Cnpy4 A G 5: 138,191,125 (GRCm39) T234A probably benign Het
Col13a1 T C 10: 61,797,124 (GRCm39) Y101C probably damaging Het
Crybg3 A G 16: 59,323,513 (GRCm39) I2809T probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dgkz T C 2: 91,767,805 (GRCm39) S824G probably benign Het
Dsg1c T A 18: 20,397,373 (GRCm39) I27N probably damaging Het
Egr1 T C 18: 34,995,916 (GRCm39) Y233H possibly damaging Het
Fam184a T C 10: 53,551,256 (GRCm39) E237G probably damaging Het
Galt A G 4: 41,755,623 (GRCm39) probably benign Het
Gm4795 T C 10: 44,883,211 (GRCm39) noncoding transcript Het
Gm6563 G A 19: 23,653,392 (GRCm39) E61K possibly damaging Het
Igkv1-133 G A 6: 67,702,590 (GRCm39) V103M probably damaging Het
Iqcb1 T A 16: 36,660,258 (GRCm39) H140Q probably benign Het
Itpk1 G T 12: 102,589,668 (GRCm39) P74Q probably damaging Het
Itpr3 T A 17: 27,317,153 (GRCm39) W803R probably damaging Het
Lgr4 A T 2: 109,832,846 (GRCm39) D312V probably benign Het
Lgr4 C T 2: 109,838,420 (GRCm39) probably benign Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mllt6 C A 11: 97,561,158 (GRCm39) A282E probably benign Het
Mtif2 T C 11: 29,490,642 (GRCm39) S449P possibly damaging Het
Nrg3 T C 14: 38,093,269 (GRCm39) I533M probably damaging Het
Nynrin C T 14: 56,109,167 (GRCm39) Q1425* probably null Het
Or12e13 A G 2: 87,663,873 (GRCm39) I163M probably damaging Het
Or1e1f A T 11: 73,855,688 (GRCm39) M85L probably benign Het
Or4n4b T A 14: 50,536,571 (GRCm39) N65I probably damaging Het
Or4p22 C T 2: 88,317,771 (GRCm39) H232Y probably benign Het
Or56a3 T A 7: 104,735,530 (GRCm39) Y202* probably null Het
Or5b3 T A 19: 13,388,831 (GRCm39) S299R probably benign Het
Or7e175 G A 9: 20,048,516 (GRCm39) V35I probably benign Het
Plcb4 C T 2: 135,836,245 (GRCm39) T20I possibly damaging Het
Ppp1r12b G T 1: 134,763,721 (GRCm39) T771K probably benign Het
Prss22 T C 17: 24,215,363 (GRCm39) T138A probably benign Het
Ros1 A T 10: 52,005,677 (GRCm39) S907T probably damaging Het
Rtel1 T A 2: 180,993,134 (GRCm39) Y521* probably null Het
Sacs T C 14: 61,429,984 (GRCm39) F678S probably damaging Het
Smtnl1 A T 2: 84,647,372 (GRCm39) probably benign Het
Sumf2 T C 5: 129,888,986 (GRCm39) V258A probably damaging Het
Tas1r2 A T 4: 139,396,827 (GRCm39) Y722F probably damaging Het
Tecpr1 A G 5: 144,143,372 (GRCm39) F668L possibly damaging Het
Timd4 T C 11: 46,706,558 (GRCm39) F120S probably damaging Het
Tnnt3 T C 7: 142,062,062 (GRCm39) probably benign Het
Trp53bp1 G A 2: 121,067,070 (GRCm39) S552F probably damaging Het
Txlnb G A 10: 17,706,090 (GRCm39) R333Q possibly damaging Het
Txlnb A G 10: 17,717,276 (GRCm39) probably benign Het
Uroc1 A G 6: 90,324,910 (GRCm39) E461G probably benign Het
Vps45 G A 3: 95,950,236 (GRCm39) T231I probably damaging Het
Zfp648 T A 1: 154,079,923 (GRCm39) S27R probably benign Het
Other mutations in Efhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Efhb APN 17 53,769,481 (GRCm39) missense probably damaging 1.00
IGL00990:Efhb APN 17 53,769,649 (GRCm39) missense possibly damaging 0.86
IGL02041:Efhb APN 17 53,733,287 (GRCm39) missense probably damaging 1.00
IGL02637:Efhb APN 17 53,756,580 (GRCm39) missense probably benign 0.26
IGL02704:Efhb APN 17 53,733,297 (GRCm39) missense probably damaging 1.00
IGL03083:Efhb APN 17 53,706,087 (GRCm39) missense probably damaging 1.00
IGL03090:Efhb APN 17 53,769,958 (GRCm39) missense probably benign 0.01
IGL03221:Efhb APN 17 53,706,014 (GRCm39) missense probably damaging 1.00
PIT4531001:Efhb UTSW 17 53,752,803 (GRCm39) missense probably damaging 1.00
R0632:Efhb UTSW 17 53,720,487 (GRCm39) splice site probably benign
R1234:Efhb UTSW 17 53,758,615 (GRCm39) nonsense probably null
R1466:Efhb UTSW 17 53,744,206 (GRCm39) missense probably damaging 0.99
R1466:Efhb UTSW 17 53,744,206 (GRCm39) missense probably damaging 0.99
R1471:Efhb UTSW 17 53,706,140 (GRCm39) missense possibly damaging 0.46
R1624:Efhb UTSW 17 53,733,306 (GRCm39) missense probably damaging 1.00
R2019:Efhb UTSW 17 53,708,505 (GRCm39) missense probably damaging 1.00
R2085:Efhb UTSW 17 53,733,937 (GRCm39) critical splice donor site probably null
R2226:Efhb UTSW 17 53,769,457 (GRCm39) critical splice donor site probably null
R2415:Efhb UTSW 17 53,770,124 (GRCm39) missense probably benign 0.01
R3848:Efhb UTSW 17 53,734,024 (GRCm39) splice site probably benign
R3858:Efhb UTSW 17 53,769,808 (GRCm39) missense possibly damaging 0.61
R4581:Efhb UTSW 17 53,733,303 (GRCm39) missense probably damaging 1.00
R4712:Efhb UTSW 17 53,758,697 (GRCm39) missense probably damaging 1.00
R4731:Efhb UTSW 17 53,733,272 (GRCm39) missense probably damaging 1.00
R4732:Efhb UTSW 17 53,733,272 (GRCm39) missense probably damaging 1.00
R4733:Efhb UTSW 17 53,733,272 (GRCm39) missense probably damaging 1.00
R5375:Efhb UTSW 17 53,708,654 (GRCm39) missense possibly damaging 0.93
R5886:Efhb UTSW 17 53,758,582 (GRCm39) missense probably benign 0.42
R6054:Efhb UTSW 17 53,706,027 (GRCm39) missense possibly damaging 0.90
R6195:Efhb UTSW 17 53,769,580 (GRCm39) missense possibly damaging 0.62
R6233:Efhb UTSW 17 53,769,580 (GRCm39) missense possibly damaging 0.62
R6450:Efhb UTSW 17 53,759,632 (GRCm39) missense possibly damaging 0.77
R6550:Efhb UTSW 17 53,728,968 (GRCm39) missense probably benign 0.06
R6701:Efhb UTSW 17 53,706,091 (GRCm39) missense probably benign 0.41
R6967:Efhb UTSW 17 53,770,196 (GRCm39) missense probably benign 0.03
R7157:Efhb UTSW 17 53,707,928 (GRCm39) missense probably damaging 1.00
R7441:Efhb UTSW 17 53,708,549 (GRCm39) missense possibly damaging 0.78
R7694:Efhb UTSW 17 53,707,836 (GRCm39) missense probably damaging 0.99
R8044:Efhb UTSW 17 53,706,143 (GRCm39) missense probably benign 0.41
R8176:Efhb UTSW 17 53,707,874 (GRCm39) missense probably damaging 1.00
R8309:Efhb UTSW 17 53,756,563 (GRCm39) missense probably damaging 0.99
R8311:Efhb UTSW 17 53,720,489 (GRCm39) critical splice donor site probably null
R8821:Efhb UTSW 17 53,707,772 (GRCm39) critical splice donor site probably benign
R8882:Efhb UTSW 17 53,769,712 (GRCm39) missense probably damaging 1.00
R9146:Efhb UTSW 17 53,769,644 (GRCm39) missense probably benign 0.00
R9211:Efhb UTSW 17 53,756,507 (GRCm39) missense probably damaging 0.96
R9760:Efhb UTSW 17 53,770,298 (GRCm39) missense probably damaging 0.96
RF003:Efhb UTSW 17 53,707,919 (GRCm39) missense probably damaging 1.00
RF012:Efhb UTSW 17 53,720,545 (GRCm39) missense probably damaging 0.97
Z1177:Efhb UTSW 17 53,744,211 (GRCm39) missense probably benign 0.26
Z1177:Efhb UTSW 17 53,744,154 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16