Incidental Mutation 'IGL02637:Efhb'
ID301552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efhb
Ensembl Gene ENSMUSG00000023931
Gene NameEF hand domain family, member B
Synonyms4921525D22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL02637
Quality Score
Status
Chromosome17
Chromosomal Location53398889-53463321 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53449552 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 357 (I357T)
Ref Sequence ENSEMBL: ENSMUSP00000024725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024725]
Predicted Effect probably benign
Transcript: ENSMUST00000024725
AA Change: I357T

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: I357T

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C A 2: 130,814,307 probably benign Het
Acsm4 A G 7: 119,710,684 Y435C probably damaging Het
Adgrb1 C T 15: 74,588,294 probably benign Het
Ampd1 T C 3: 103,094,883 probably benign Het
Camk1g G A 1: 193,348,388 P338S probably benign Het
Cog3 T C 14: 75,722,196 probably benign Het
Crat A G 2: 30,406,389 V355A probably benign Het
Ctla2a T A 13: 60,936,085 probably benign Het
Fh1 T C 1: 175,609,766 M256V probably benign Het
Gabrg3 A G 7: 56,735,027 I262T probably damaging Het
Gata2 C T 6: 88,204,576 probably benign Het
Gm6356 A G 14: 6,970,926 V178A possibly damaging Het
Hacl1 T C 14: 31,640,501 E63G probably damaging Het
Hid1 A T 11: 115,350,595 I623N probably damaging Het
Hivep2 A G 10: 14,130,708 K1017E possibly damaging Het
Ifi208 C T 1: 173,678,942 T97I probably benign Het
Ighg1 T C 12: 113,329,512 H186R unknown Het
Igkv8-26 T C 6: 70,193,658 S78P probably damaging Het
Itih3 T C 14: 30,915,660 N514S probably benign Het
Kcnj16 A T 11: 111,025,613 D367V probably benign Het
Klhl23 A T 2: 69,828,914 R428* probably null Het
Lgmn T C 12: 102,400,226 E216G probably damaging Het
Lmx1a G T 1: 167,844,623 probably benign Het
Lrp5 C T 19: 3,630,269 G405D probably benign Het
Lrrc74a C T 12: 86,741,747 R53* probably null Het
Lsm12 G A 11: 102,164,122 R123C probably benign Het
March5 T A 19: 37,220,634 probably benign Het
Mark3 C A 12: 111,592,656 A44D probably damaging Het
Mndal T A 1: 173,857,437 N522I possibly damaging Het
Nbeal2 G T 9: 110,625,977 R2611S possibly damaging Het
Nlrp4d T C 7: 10,382,555 noncoding transcript Het
Npnt T A 3: 132,884,510 I507F possibly damaging Het
Olfr576 G A 7: 102,973,043 probably benign Het
Pde4a T A 9: 21,201,332 L91Q probably damaging Het
Pdzd2 C T 15: 12,385,634 V1017M probably benign Het
Pkhd1l1 A G 15: 44,564,324 N3259S probably damaging Het
Plxnb2 A T 15: 89,164,057 H683Q possibly damaging Het
Reck T A 4: 43,898,009 S96T probably damaging Het
Rnf135 A G 11: 80,198,878 K347E probably benign Het
Rxfp2 A G 5: 150,055,913 D246G probably damaging Het
Sdk1 C T 5: 142,094,572 T1273I probably damaging Het
Slc12a8 A T 16: 33,534,960 M49L probably benign Het
Slc5a11 A T 7: 123,260,505 probably null Het
Surf2 A G 2: 26,919,778 K247E probably damaging Het
Sys1 G A 2: 164,461,392 V9M possibly damaging Het
Tcf4 G A 18: 69,347,350 D18N probably damaging Het
Tmc6 A T 11: 117,767,590 V773D possibly damaging Het
Trappc13 T C 13: 104,150,062 Q229R probably benign Het
Trove2 A G 1: 143,770,788 V73A probably damaging Het
Xkr5 T C 8: 18,934,083 E481G probably benign Het
Xpo5 C A 17: 46,235,979 D885E probably damaging Het
Other mutations in Efhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Efhb APN 17 53462453 missense probably damaging 1.00
IGL00990:Efhb APN 17 53462621 missense possibly damaging 0.86
IGL02041:Efhb APN 17 53426259 missense probably damaging 1.00
IGL02247:Efhb APN 17 53401624 missense probably benign 0.00
IGL02704:Efhb APN 17 53426269 missense probably damaging 1.00
IGL03083:Efhb APN 17 53399059 missense probably damaging 1.00
IGL03090:Efhb APN 17 53462930 missense probably benign 0.01
IGL03221:Efhb APN 17 53398986 missense probably damaging 1.00
PIT4531001:Efhb UTSW 17 53445775 missense probably damaging 1.00
R0632:Efhb UTSW 17 53413459 splice site probably benign
R1234:Efhb UTSW 17 53451587 nonsense probably null
R1466:Efhb UTSW 17 53437178 missense probably damaging 0.99
R1466:Efhb UTSW 17 53437178 missense probably damaging 0.99
R1471:Efhb UTSW 17 53399112 missense possibly damaging 0.46
R1624:Efhb UTSW 17 53426278 missense probably damaging 1.00
R2019:Efhb UTSW 17 53401477 missense probably damaging 1.00
R2085:Efhb UTSW 17 53426909 critical splice donor site probably null
R2226:Efhb UTSW 17 53462429 critical splice donor site probably null
R2415:Efhb UTSW 17 53463096 missense probably benign 0.01
R3848:Efhb UTSW 17 53426996 splice site probably benign
R3858:Efhb UTSW 17 53462780 missense possibly damaging 0.61
R4581:Efhb UTSW 17 53426275 missense probably damaging 1.00
R4712:Efhb UTSW 17 53451669 missense probably damaging 1.00
R4731:Efhb UTSW 17 53426244 missense probably damaging 1.00
R4732:Efhb UTSW 17 53426244 missense probably damaging 1.00
R4733:Efhb UTSW 17 53426244 missense probably damaging 1.00
R5375:Efhb UTSW 17 53401626 missense possibly damaging 0.93
R5886:Efhb UTSW 17 53451554 missense probably benign 0.42
R6054:Efhb UTSW 17 53398999 missense possibly damaging 0.90
R6195:Efhb UTSW 17 53462552 missense possibly damaging 0.62
R6233:Efhb UTSW 17 53462552 missense possibly damaging 0.62
R6450:Efhb UTSW 17 53452604 missense possibly damaging 0.77
R6550:Efhb UTSW 17 53421940 missense probably benign 0.06
R6701:Efhb UTSW 17 53399063 missense probably benign 0.41
R6967:Efhb UTSW 17 53463168 missense probably benign 0.03
R7157:Efhb UTSW 17 53400900 missense probably damaging 1.00
R7441:Efhb UTSW 17 53401521 missense possibly damaging 0.78
R7694:Efhb UTSW 17 53400808 missense probably damaging 0.99
R8044:Efhb UTSW 17 53399115 missense probably benign 0.41
R8176:Efhb UTSW 17 53400846 missense probably damaging 1.00
R8309:Efhb UTSW 17 53449535 missense probably damaging 0.99
R8311:Efhb UTSW 17 53413461 critical splice donor site probably null
R8821:Efhb UTSW 17 53400744 critical splice donor site probably benign
R8882:Efhb UTSW 17 53462684 missense probably damaging 1.00
RF003:Efhb UTSW 17 53400891 missense probably damaging 1.00
RF012:Efhb UTSW 17 53413517 missense probably damaging 0.97
Z1177:Efhb UTSW 17 53437126 missense possibly damaging 0.94
Z1177:Efhb UTSW 17 53437183 missense probably benign 0.26
Posted On2015-04-16