Incidental Mutation 'IGL01869:Efhd2'
ID178654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efhd2
Ensembl Gene ENSMUSG00000040659
Gene NameEF hand domain containing 2
Synonymsswiprosin 1, D4Wsu27e, 2600015J22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #IGL01869
Quality Score
Status
Chromosome4
Chromosomal Location141858142-141874920 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 141874602 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 89 (F89S)
Ref Sequence ENSEMBL: ENSMUSP00000044502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036854]
Predicted Effect probably damaging
Transcript: ENSMUST00000036854
AA Change: F89S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044502
Gene: ENSMUSG00000040659
AA Change: F89S

DomainStartEndE-ValueType
low complexity region 32 47 N/A INTRINSIC
EFh 96 124 1.44e-2 SMART
EFh 132 160 2.71e0 SMART
coiled coil region 199 237 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190911
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced germinal center responses and humoral type 2 immunity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700026F02Rik A G 8: 71,043,045 noncoding transcript Het
Adam29 T C 8: 55,871,697 H574R probably damaging Het
Arap1 C A 7: 101,400,283 T984K probably damaging Het
Ccdc146 A T 5: 21,316,839 S396T probably benign Het
Col6a3 T C 1: 90,773,048 K2587E unknown Het
Cyp3a44 A G 5: 145,790,686 S278P probably damaging Het
Daw1 T G 1: 83,182,244 probably benign Het
Dnah17 T C 11: 118,052,676 K3200R probably benign Het
Fras1 A G 5: 96,708,783 probably benign Het
Ggps1 T C 13: 14,054,394 D68G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3604 A T 13: 62,370,140 C134S probably damaging Het
Gpaa1 A G 15: 76,332,998 T178A probably benign Het
Lama3 A G 18: 12,524,763 N312S possibly damaging Het
Npepps T C 11: 97,236,122 I437M probably damaging Het
Olfr1495 A G 19: 13,769,170 D276G probably benign Het
Olfr266 C T 3: 106,822,026 D178N probably benign Het
Rcor1 C A 12: 111,103,759 T330K possibly damaging Het
Sbno2 A G 10: 80,060,392 probably null Het
Sema3g A G 14: 31,223,667 E478G probably damaging Het
Smg9 A G 7: 24,416,524 D280G probably damaging Het
Smtnl1 A T 2: 84,811,397 *460R probably null Het
Syde1 A G 10: 78,588,919 C360R possibly damaging Het
Szt2 A G 4: 118,399,071 V197A possibly damaging Het
Tnrc6c T C 11: 117,755,448 V1405A possibly damaging Het
Ttbk1 A G 17: 46,447,063 S882P probably damaging Het
Tubgcp4 T A 2: 121,175,788 H116Q possibly damaging Het
Vmn1r192 T A 13: 22,187,580 N157Y probably damaging Het
Vmn1r60 C T 7: 5,544,229 V291M probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo5 C T 17: 46,242,207 P1184L possibly damaging Het
Zfp946 T G 17: 22,454,703 I146S probably benign Het
Other mutations in Efhd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Efhd2 APN 4 141859865 missense probably benign 0.05
IGL01710:Efhd2 APN 4 141860561 missense probably damaging 1.00
FR4589:Efhd2 UTSW 4 141874764 small insertion probably benign
R0109:Efhd2 UTSW 4 141874567 missense probably benign 0.00
R0711:Efhd2 UTSW 4 141859872 missense probably damaging 1.00
R6861:Efhd2 UTSW 4 141859881 splice site probably null
R7765:Efhd2 UTSW 4 141874575 missense probably damaging 0.97
RF008:Efhd2 UTSW 4 141874758 small insertion probably benign
RF010:Efhd2 UTSW 4 141874764 small insertion probably benign
RF012:Efhd2 UTSW 4 141874768 small insertion probably benign
RF015:Efhd2 UTSW 4 141874756 small insertion probably benign
RF016:Efhd2 UTSW 4 141874756 small insertion probably benign
RF021:Efhd2 UTSW 4 141874773 small insertion probably benign
RF023:Efhd2 UTSW 4 141874762 small insertion probably benign
RF024:Efhd2 UTSW 4 141874762 small insertion probably benign
RF025:Efhd2 UTSW 4 141874771 small insertion probably benign
RF032:Efhd2 UTSW 4 141874772 small insertion probably benign
RF044:Efhd2 UTSW 4 141874768 small insertion probably benign
RF056:Efhd2 UTSW 4 141874767 small insertion probably benign
RF057:Efhd2 UTSW 4 141874769 small insertion probably benign
RF062:Efhd2 UTSW 4 141874755 small insertion probably benign
RF062:Efhd2 UTSW 4 141874774 small insertion probably benign
RF064:Efhd2 UTSW 4 141874755 small insertion probably benign
Z1177:Efhd2 UTSW 4 141874683 missense not run
Posted On2014-05-07