Incidental Mutation 'IGL03083:Efhb'
ID 417956
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 # IGL03083
Quality Score
Status
Chromosome 17
Chromosomal Location 53705917-53770349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53706087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 817 (W817R)
Ref Sequence ENSEMBL: ENSMUSP00000024725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024725]
AlphaFold Q8CDU5
Predicted Effect probably damaging
Transcript: ENSMUST00000024725
AA Change: W817R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: W817R

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T 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
IGL02247:Efhb APN 17 53,708,652 (GRCm39) missense probably benign 0.00
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
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 2016-08-02