Incidental Mutation 'R2217:Ehd1'
ID 241238
Institutional Source Beutler Lab
Gene Symbol Ehd1
Ensembl Gene ENSMUSG00000024772
Gene Name EH-domain containing 1
Synonyms RME-1, Past1
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6326926-6350126 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6348502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 493 (D493E)
Ref Sequence ENSEMBL: ENSMUSP00000025684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025684]
AlphaFold Q9WVK4
Predicted Effect probably damaging
Transcript: ENSMUST00000025684
AA Change: D493E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: D493E

DomainStartEndE-ValueType
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: ENSMUST00000148547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171203
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging 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
IGL03146:Ehd1 APN 19 6,327,368 (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
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
Predicted Primers PCR Primer
(F):5'- GCTTTTGATGGCACCATGAATG -3'
(R):5'- TGAGGAAACACCGCTCAGTC -3'

Sequencing Primer
(F):5'- CCATGAATGGGCCCTTTGG -3'
(R):5'- GGAAACACCGCTCAGTCTTTATGG -3'
Posted On 2014-10-15