Incidental Mutation 'IGL03146:Ehd1'
ID 410932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ehd1
Ensembl Gene ENSMUSG00000024772
Gene Name EH-domain containing 1
Synonyms RME-1, Past1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03146
Quality Score
Chromosome 19
Chromosomal Location 6326926-6350126 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6327368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 122 (F122L)
Ref Sequence ENSEMBL: ENSMUSP00000025684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025684]
AlphaFold Q9WVK4
Predicted Effect probably damaging
Transcript: ENSMUST00000025684
AA Change: F122L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: F122L

Pfam:EHD_N 24 56 1.2e-19 PFAM
Pfam:MMR_HSR1 60 220 5.1e-9 PFAM
Pfam:Dynamin_N 61 221 6.6e-15 PFAM
low complexity region 420 433 N/A INTRINSIC
EH 438 531 1.82e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165797
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show perinatal and postnatal lethality, decreased body weight, and male infertility due to defective spermatogenesis; female homozygotes may display malocclusion and variable ocular defects, including congenital central cataracts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,294,519 (GRCm39) D360G probably damaging Het
Adam6a A T 12: 113,509,144 (GRCm39) T506S probably damaging Het
Adamts15 A G 9: 30,832,863 (GRCm39) V224A probably damaging Het
Arhgef12 G T 9: 42,885,866 (GRCm39) D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ccdc85c G A 12: 108,173,395 (GRCm39) R387* probably null Het
Cfap57 T A 4: 118,456,216 (GRCm39) I493F probably damaging Het
Chst9 A G 18: 15,586,035 (GRCm39) I176T probably damaging Het
Clpx G T 9: 65,234,112 (GRCm39) V572L probably benign Het
Csmd3 T A 15: 47,744,873 (GRCm39) N1374I probably benign Het
Cyp2e1 T A 7: 140,350,134 (GRCm39) M273K probably benign Het
Ehbp1l1 T C 19: 5,770,061 (GRCm39) E414G probably benign Het
Fcho1 A G 8: 72,170,074 (GRCm39) probably benign Het
Fermt3 T C 19: 6,980,631 (GRCm39) E312G possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 G A 5: 92,214,399 (GRCm39) R132C probably damaging Het
Inpp4b A T 8: 82,470,410 (GRCm39) I35F possibly damaging Het
Izumo3 T G 4: 92,033,276 (GRCm39) I107L probably damaging Het
Lama3 C A 18: 12,660,681 (GRCm39) Q484K possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mapkbp1 T C 2: 119,828,955 (GRCm39) probably benign Het
Mast4 T C 13: 102,874,163 (GRCm39) N1735S probably benign Het
Or14a257 T C 7: 86,138,402 (GRCm39) D119G probably damaging Het
Or4c100 T A 2: 88,356,488 (GRCm39) M187K possibly damaging Het
Oxct1 T C 15: 4,130,630 (GRCm39) L374P probably damaging Het
Parp14 G A 16: 35,678,823 (GRCm39) Q382* probably null Het
Pax2 A G 19: 44,821,714 (GRCm39) probably benign Het
Prkaa1 T C 15: 5,198,122 (GRCm39) V146A probably damaging Het
Ptprb C T 10: 116,164,032 (GRCm39) A900V probably benign Het
Rgs6 A T 12: 83,099,312 (GRCm39) D130V probably damaging Het
Ryr1 C A 7: 28,793,457 (GRCm39) R1344L probably benign Het
Scgb1b12 C A 7: 32,033,969 (GRCm39) D76E possibly damaging Het
Sel1l3 T A 5: 53,311,585 (GRCm39) E633D probably benign Het
Slc1a7 T A 4: 107,850,189 (GRCm39) I100N probably damaging Het
Slc25a35 A G 11: 68,859,678 (GRCm39) K64E possibly damaging Het
Spmip4 A T 6: 50,550,853 (GRCm39) V532E probably damaging Het
Stil C A 4: 114,881,612 (GRCm39) Q719K probably damaging Het
Stim1 T A 7: 102,070,562 (GRCm39) L265Q probably damaging Het
Tmem191 A G 16: 17,095,246 (GRCm39) E169G probably damaging Het
Tmem255b T C 8: 13,504,174 (GRCm39) L101P probably damaging Het
Trgv3 C A 13: 19,427,337 (GRCm39) Y73* probably null Het
Zfyve26 G A 12: 79,330,846 (GRCm39) Q458* probably null Het
Other mutations in Ehd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Ehd1 APN 19 6,348,177 (GRCm39) missense possibly damaging 0.86
IGL02573:Ehd1 APN 19 6,344,330 (GRCm39) missense probably damaging 1.00
declining UTSW 19 6,344,418 (GRCm39) missense probably damaging 1.00
R1376:Ehd1 UTSW 19 6,344,418 (GRCm39) missense probably damaging 1.00
R1376:Ehd1 UTSW 19 6,344,418 (GRCm39) missense probably damaging 1.00
R1593:Ehd1 UTSW 19 6,348,330 (GRCm39) missense
R2062:Ehd1 UTSW 19 6,348,108 (GRCm39) missense probably benign 0.11
R2064:Ehd1 UTSW 19 6,348,108 (GRCm39) missense probably benign 0.11
R2065:Ehd1 UTSW 19 6,348,108 (GRCm39) missense probably benign 0.11
R2066:Ehd1 UTSW 19 6,348,108 (GRCm39) missense probably benign 0.11
R2067:Ehd1 UTSW 19 6,348,108 (GRCm39) missense probably benign 0.11
R2068:Ehd1 UTSW 19 6,348,108 (GRCm39) missense probably benign 0.11
R2217:Ehd1 UTSW 19 6,348,502 (GRCm39) missense probably damaging 1.00
R3436:Ehd1 UTSW 19 6,327,044 (GRCm39) nonsense probably null
R3705:Ehd1 UTSW 19 6,348,330 (GRCm39) missense
R4654:Ehd1 UTSW 19 6,326,994 (GRCm39) utr 5 prime probably benign
R4902:Ehd1 UTSW 19 6,344,273 (GRCm39) missense possibly damaging 0.91
R5001:Ehd1 UTSW 19 6,347,724 (GRCm39) missense probably benign 0.14
R5076:Ehd1 UTSW 19 6,327,251 (GRCm39) missense probably benign 0.02
R6327:Ehd1 UTSW 19 6,348,375 (GRCm39) missense possibly damaging 0.81
R6679:Ehd1 UTSW 19 6,344,474 (GRCm39) missense probably benign 0.01
R7120:Ehd1 UTSW 19 6,347,591 (GRCm39) missense probably benign 0.00
R7183:Ehd1 UTSW 19 6,347,684 (GRCm39) missense probably benign 0.02
R7215:Ehd1 UTSW 19 6,347,672 (GRCm39) missense possibly damaging 0.81
R7853:Ehd1 UTSW 19 6,327,225 (GRCm39) missense probably damaging 0.99
R8467:Ehd1 UTSW 19 6,331,318 (GRCm39) missense probably benign 0.24
R8523:Ehd1 UTSW 19 6,344,613 (GRCm39) missense probably damaging 0.98
R8879:Ehd1 UTSW 19 6,348,354 (GRCm39) missense probably damaging 0.97
R8957:Ehd1 UTSW 19 6,344,439 (GRCm39) missense probably damaging 1.00
R9011:Ehd1 UTSW 19 6,348,108 (GRCm39) missense probably benign 0.11
R9664:Ehd1 UTSW 19 6,331,262 (GRCm39) missense probably benign 0.01
R9687:Ehd1 UTSW 19 6,348,330 (GRCm39) missense
Posted On 2016-08-02