Incidental Mutation 'IGL01557:Ehd3'
ID90760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ehd3
Ensembl Gene ENSMUSG00000024065
Gene NameEH-domain containing 3
SynonymsEhd2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01557
Quality Score
Status
Chromosome17
Chromosomal Location73804841-73832093 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73805280 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 13 (K13R)
Ref Sequence ENSEMBL: ENSMUSP00000024860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024860]
Predicted Effect probably benign
Transcript: ENSMUST00000024860
AA Change: K13R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: K13R

DomainStartEndE-ValueType
Pfam:EHD_N 24 56 1.6e-21 PFAM
Pfam:MMR_HSR1 60 220 1.7e-8 PFAM
Pfam:Dynamin_N 61 221 1.3e-12 PFAM
low complexity region 420 433 N/A INTRINSIC
EH 438 531 1.95e-45 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are healthy and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,968,720 probably null Het
Arl9 T G 5: 77,004,101 probably null Het
Ces3a C A 8: 105,057,751 T439K probably damaging Het
Cyp3a25 A G 5: 145,984,901 W408R probably damaging Het
Defb22 T G 2: 152,486,079 D62A possibly damaging Het
Dnah17 C T 11: 118,073,686 R2422Q probably damaging Het
Fndc1 T C 17: 7,756,389 E1406G probably damaging Het
Gak A C 5: 108,584,337 Y762D probably damaging Het
Igf2r A G 17: 12,704,635 S1187P possibly damaging Het
Ighmbp2 T C 19: 3,281,472 E68G probably benign Het
Itpr2 T C 6: 146,158,976 T2448A probably damaging Het
Lrrk2 T G 15: 91,699,989 C317W probably damaging Het
Morc1 T A 16: 48,498,766 S278T probably damaging Het
Mrps9 T C 1: 42,851,350 V20A probably benign Het
Nutm1 A T 2: 112,251,818 N304K probably benign Het
Olfr761 G A 17: 37,952,851 P58S probably damaging Het
Pcdhb9 T C 18: 37,403,047 V698A probably damaging Het
Pitrm1 C A 13: 6,552,684 D70E probably benign Het
Pkhd1 T C 1: 20,116,979 T3702A possibly damaging Het
Ppm1h A T 10: 122,782,181 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn5 T C 7: 47,081,888 Y411C probably damaging Het
Spon2 G A 5: 33,216,703 A112V probably damaging Het
Zfp648 T A 1: 154,204,680 V195D probably benign Het
Other mutations in Ehd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Ehd3 APN 17 73827489 missense probably damaging 0.99
IGL01400:Ehd3 APN 17 73828094 missense probably benign 0.06
IGL02214:Ehd3 APN 17 73820546 missense probably damaging 1.00
IGL03053:Ehd3 APN 17 73805442 missense probably damaging 0.97
IGL02796:Ehd3 UTSW 17 73816401 missense probably damaging 1.00
R0468:Ehd3 UTSW 17 73805379 missense probably damaging 1.00
R0557:Ehd3 UTSW 17 73829933 missense probably benign 0.00
R1029:Ehd3 UTSW 17 73816326 missense probably benign 0.00
R1295:Ehd3 UTSW 17 73828186 missense probably damaging 0.97
R1386:Ehd3 UTSW 17 73820543 missense probably damaging 1.00
R1796:Ehd3 UTSW 17 73830359 missense probably damaging 1.00
R3821:Ehd3 UTSW 17 73827395 missense probably benign 0.01
R4873:Ehd3 UTSW 17 73805304 missense probably damaging 1.00
R4875:Ehd3 UTSW 17 73805304 missense probably damaging 1.00
R5104:Ehd3 UTSW 17 73827447 missense probably benign 0.44
R5244:Ehd3 UTSW 17 73830000 missense probably benign
R5283:Ehd3 UTSW 17 73820503 missense probably benign
R5339:Ehd3 UTSW 17 73828207 missense possibly damaging 0.63
R5966:Ehd3 UTSW 17 73827361 missense probably damaging 1.00
R5966:Ehd3 UTSW 17 73827366 missense probably damaging 1.00
R6255:Ehd3 UTSW 17 73805413 missense probably benign 0.17
R6906:Ehd3 UTSW 17 73830338 missense probably damaging 1.00
R7113:Ehd3 UTSW 17 73830184 missense probably benign 0.17
R7368:Ehd3 UTSW 17 73827462 missense possibly damaging 0.72
R7410:Ehd3 UTSW 17 73805433 missense probably benign 0.04
R7891:Ehd3 UTSW 17 73816392 missense probably benign 0.19
R7974:Ehd3 UTSW 17 73816392 missense probably benign 0.19
Z1176:Ehd3 UTSW 17 73805285 missense not run
Z1177:Ehd3 UTSW 17 73830105 missense not run
Posted On2013-12-09