Incidental Mutation 'IGL03221:Efhb'
ID413650
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 #IGL03221
Quality Score
Status
Chromosome17
Chromosomal Location53398889-53463321 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53398986 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 841 (L841P)
Ref Sequence ENSEMBL: ENSMUSP00000024725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024725]
Predicted Effect probably damaging
Transcript: ENSMUST00000024725
AA Change: L841P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: L841P

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 C T 6: 113,760,859 probably benign Het
BC051665 T A 13: 60,784,428 K116* probably null Het
Birc6 A T 17: 74,627,007 T2538S probably benign Het
Btn2a2 A G 13: 23,478,449 S435P probably damaging Het
Etv4 C T 11: 101,774,162 R155K probably damaging Het
Fam126b C A 1: 58,540,186 V231L probably benign Het
Fnbp4 T A 2: 90,777,718 M928K possibly damaging Het
Grin2c A G 11: 115,254,044 probably benign Het
Grip1 A T 10: 119,986,394 M342L probably benign Het
H60c T A 10: 3,259,799 K163* probably null Het
Lilr4b A G 10: 51,481,428 probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mast4 A G 13: 102,754,256 V838A possibly damaging Het
Mypn C A 10: 63,131,123 D925Y probably damaging Het
Nol6 T C 4: 41,124,166 D27G probably benign Het
Olfr1202 T C 2: 88,817,437 S89P possibly damaging Het
Olfr1447 G T 19: 12,901,541 P80T probably damaging Het
Olfr916 A T 9: 38,658,365 V9E probably damaging Het
Pik3c2g A G 6: 139,772,407 probably null Het
Pik3c3 G T 18: 30,302,931 M394I probably benign Het
Rfx7 C T 9: 72,618,806 R1093C probably damaging Het
Scin A G 12: 40,076,974 V458A probably benign Het
Slc34a1 T C 13: 55,400,778 V39A probably benign Het
Slc6a4 A G 11: 77,027,105 M558V probably benign Het
Smpx T C X: 157,720,998 V65A probably damaging Het
Tmem200a A T 10: 25,994,024 F116I possibly damaging Het
Tnfrsf19 A T 14: 61,024,778 V12E probably benign Het
Trpc1 C T 9: 95,706,900 R757H probably damaging Het
Ttc38 T A 15: 85,834,541 S51T probably benign Het
Wee1 G A 7: 110,126,817 C378Y 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
IGL02637:Efhb APN 17 53449552 missense probably benign 0.26
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
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 On2016-08-02