Incidental Mutation 'IGL02214:Ehd3'
ID284798
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 #IGL02214
Quality Score
Status
Chromosome17
Chromosomal Location73804841-73832093 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73820546 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 158 (L158H)
Ref Sequence ENSEMBL: ENSMUSP00000024860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024860]
Predicted Effect probably damaging
Transcript: ENSMUST00000024860
AA Change: L158H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: L158H

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,574,724 probably benign Het
A330008L17Rik T A 8: 99,421,758 noncoding transcript Het
A930004D18Rik A G 2: 18,027,256 L17P unknown Het
Abca14 A T 7: 120,294,175 M1283L probably benign Het
Adarb1 A T 10: 77,322,301 V104E probably damaging Het
Ano1 T A 7: 144,655,708 N252Y possibly damaging Het
Atp6v0a1 A G 11: 101,039,840 S498G probably benign Het
Bdp1 A G 13: 100,041,535 V1942A probably benign Het
Carf T A 1: 60,148,081 D579E probably damaging Het
Cltc A T 11: 86,732,586 S200R probably benign Het
Cpeb1 T C 7: 81,372,057 S113G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Etfa C A 9: 55,464,811 G289W probably damaging Het
Fndc3c1 G A X: 106,425,829 T1029I probably benign Het
Gipr C A 7: 19,157,546 G402V possibly damaging Het
Gm5724 T A 6: 141,723,185 D507V possibly damaging Het
Hacd1 C T 2: 14,026,947 V242M probably damaging Het
Hecw1 A G 13: 14,300,393 L520P probably damaging Het
Ibtk A T 9: 85,714,179 probably benign Het
Igkv16-104 A C 6: 68,425,794 I24L probably benign Het
Kcnh8 A T 17: 52,877,911 Y407F possibly damaging Het
Mansc1 C T 6: 134,610,360 V285M probably benign Het
Mindy4 A G 6: 55,216,651 R110G possibly damaging Het
Morn1 C T 4: 155,092,319 H100Y probably damaging Het
Naip6 A T 13: 100,316,059 S165T probably damaging Het
Olfr1110 T G 2: 87,135,505 K272T probably damaging Het
Olfr538 A T 7: 140,574,557 R135* probably null Het
Prx G T 7: 27,518,912 R946M probably damaging Het
Ptchd1 A G X: 155,573,710 V833A possibly damaging Het
Rgl2 A G 17: 33,935,189 D481G probably benign Het
Serpinb3a A G 1: 107,048,488 probably null Het
Shtn1 T C 19: 58,999,886 probably benign Het
Sult1b1 C T 5: 87,535,090 probably benign Het
Tbl3 T C 17: 24,704,132 probably benign Het
Trappc9 C T 15: 73,012,882 W416* probably null Het
Ubr4 G A 4: 139,461,827 probably null Het
Ubr4 T C 4: 139,428,583 Y2240H possibly damaging Het
Vmn2r76 A C 7: 86,229,930 F387L probably benign Het
Vps8 G A 16: 21,517,285 C729Y probably damaging 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
IGL01557:Ehd3 APN 17 73805280 missense probably benign
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
Posted On2015-04-16