Incidental Mutation 'R0468:Ehd3'
ID 41772
Institutional Source Beutler Lab
Gene Symbol Ehd3
Ensembl Gene ENSMUSG00000024065
Gene Name EH-domain containing 3
Synonyms Ehd2
MMRRC Submission 038668-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0468 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 74111836-74139088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74112374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 46 (H46R)
Ref Sequence ENSEMBL: ENSMUSP00000024860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024860]
AlphaFold Q9QXY6
Predicted Effect probably damaging
Transcript: ENSMUST00000024860
AA Change: H46R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: H46R

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
Meta Mutation Damage Score 0.3007 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (61/61)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,240,084 (GRCm39) H1298R possibly damaging Het
5530400C23Rik T C 6: 133,271,421 (GRCm39) L155P probably benign Het
6820408C15Rik A T 2: 152,283,186 (GRCm39) R283S probably benign Het
Aldh1l2 T A 10: 83,354,542 (GRCm39) E104D probably benign Het
Anxa3 T C 5: 96,958,958 (GRCm39) V22A probably benign Het
Bcl7b T C 5: 135,209,737 (GRCm39) F188L probably benign Het
Brinp1 T A 4: 68,681,013 (GRCm39) I506F probably damaging Het
Bsdc1 T C 4: 129,355,511 (GRCm39) probably benign Het
Ccdc180 T C 4: 45,923,271 (GRCm39) I1075T possibly damaging Het
Cep162 A G 9: 87,075,750 (GRCm39) L1294P probably damaging Het
Cltc G A 11: 86,595,452 (GRCm39) probably benign Het
Col11a1 T C 3: 114,010,707 (GRCm39) probably benign Het
Col14a1 A T 15: 55,252,042 (GRCm39) Y566F unknown Het
Dhx29 A G 13: 113,099,811 (GRCm39) Q1148R probably benign Het
Ehbp1 A G 11: 22,119,184 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Gm4553 C A 7: 141,719,362 (GRCm39) C22F unknown Het
Hibadh C T 6: 52,534,755 (GRCm39) probably benign Het
Hspg2 G A 4: 137,260,840 (GRCm39) C1613Y probably damaging Het
Hydin G T 8: 111,139,855 (GRCm39) C708F possibly damaging Het
Ifi208 A T 1: 173,511,047 (GRCm39) M401L probably benign Het
Igsf8 G A 1: 172,146,363 (GRCm39) V454M probably damaging Het
Irx4 G T 13: 73,414,839 (GRCm39) probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kcnn2 C T 18: 45,692,538 (GRCm39) T38M possibly damaging Het
L3mbtl3 C T 10: 26,203,630 (GRCm39) R400H unknown Het
Lrp6 T C 6: 134,462,624 (GRCm39) T679A possibly damaging Het
Map9 T C 3: 82,281,510 (GRCm39) probably null Het
Men1 T A 19: 6,386,953 (GRCm39) V5E probably null Het
Mettl14 T C 3: 123,165,061 (GRCm39) D93G probably damaging Het
Neb G T 2: 52,101,568 (GRCm39) R4601S probably damaging Het
Nell1 A G 7: 49,878,594 (GRCm39) T272A probably damaging Het
Or10ag53 A T 2: 87,082,599 (GRCm39) N106I probably benign Het
Or2ak6 A T 11: 58,592,619 (GRCm39) I31F probably damaging Het
Pclo C A 5: 14,727,302 (GRCm39) probably benign Het
Pdia5 A G 16: 35,217,877 (GRCm39) L502P probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxna4 C A 6: 32,192,181 (GRCm39) C803F probably damaging Het
Pmfbp1 A G 8: 110,240,600 (GRCm39) probably null Het
Ptgs1 A G 2: 36,139,205 (GRCm39) Y468C probably damaging Het
Pxdn G T 12: 30,044,485 (GRCm39) G488W probably damaging Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sec31b T A 19: 44,506,947 (GRCm39) probably benign Het
Shank3 G A 15: 89,433,478 (GRCm39) V1333I probably benign Het
Slamf1 A G 1: 171,619,939 (GRCm39) probably benign Het
Slc23a3 T A 1: 75,109,874 (GRCm39) Q131L possibly damaging Het
Slc7a11 A G 3: 50,338,500 (GRCm39) V303A probably damaging Het
Slc7a13 T A 4: 19,841,500 (GRCm39) V449D probably benign Het
Srp68 A T 11: 116,139,590 (GRCm39) I453K probably damaging Het
Steap3 A T 1: 120,162,030 (GRCm39) V414D probably damaging Het
Tagln2 A G 1: 172,333,788 (GRCm39) N131D probably benign Het
Tmem132d T C 5: 128,346,267 (GRCm39) Y85C probably damaging Het
Vcam1 A T 3: 115,909,595 (GRCm39) Y577* probably null Het
Vmn1r214 A G 13: 23,219,423 (GRCm39) T306A probably benign Het
Zfyve1 A T 12: 83,602,048 (GRCm39) probably benign Het
Zgrf1 T A 3: 127,355,690 (GRCm39) N305K possibly damaging Het
Other mutations in Ehd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Ehd3 APN 17 74,134,484 (GRCm39) missense probably damaging 0.99
IGL01400:Ehd3 APN 17 74,135,089 (GRCm39) missense probably benign 0.06
IGL01557:Ehd3 APN 17 74,112,275 (GRCm39) missense probably benign
IGL02214:Ehd3 APN 17 74,127,541 (GRCm39) missense probably damaging 1.00
IGL03053:Ehd3 APN 17 74,112,437 (GRCm39) missense probably damaging 0.97
IGL02796:Ehd3 UTSW 17 74,123,396 (GRCm39) missense probably damaging 1.00
R0557:Ehd3 UTSW 17 74,136,928 (GRCm39) missense probably benign 0.00
R1029:Ehd3 UTSW 17 74,123,321 (GRCm39) missense probably benign 0.00
R1295:Ehd3 UTSW 17 74,135,181 (GRCm39) missense probably damaging 0.97
R1386:Ehd3 UTSW 17 74,127,538 (GRCm39) missense probably damaging 1.00
R1796:Ehd3 UTSW 17 74,137,354 (GRCm39) missense probably damaging 1.00
R3821:Ehd3 UTSW 17 74,134,390 (GRCm39) missense probably benign 0.01
R4873:Ehd3 UTSW 17 74,112,299 (GRCm39) missense probably damaging 1.00
R4875:Ehd3 UTSW 17 74,112,299 (GRCm39) missense probably damaging 1.00
R5104:Ehd3 UTSW 17 74,134,442 (GRCm39) missense probably benign 0.44
R5244:Ehd3 UTSW 17 74,136,995 (GRCm39) missense probably benign
R5283:Ehd3 UTSW 17 74,127,498 (GRCm39) missense probably benign
R5339:Ehd3 UTSW 17 74,135,202 (GRCm39) missense possibly damaging 0.63
R5966:Ehd3 UTSW 17 74,134,361 (GRCm39) missense probably damaging 1.00
R5966:Ehd3 UTSW 17 74,134,356 (GRCm39) missense probably damaging 1.00
R6255:Ehd3 UTSW 17 74,112,408 (GRCm39) missense probably benign 0.17
R6906:Ehd3 UTSW 17 74,137,333 (GRCm39) missense probably damaging 1.00
R7113:Ehd3 UTSW 17 74,137,179 (GRCm39) missense probably benign 0.17
R7368:Ehd3 UTSW 17 74,134,457 (GRCm39) missense possibly damaging 0.72
R7410:Ehd3 UTSW 17 74,112,428 (GRCm39) missense probably benign 0.04
R7891:Ehd3 UTSW 17 74,123,387 (GRCm39) missense probably benign 0.19
R8848:Ehd3 UTSW 17 74,136,911 (GRCm39) critical splice acceptor site probably null
R9161:Ehd3 UTSW 17 74,134,480 (GRCm39) nonsense probably null
R9258:Ehd3 UTSW 17 74,127,561 (GRCm39) missense probably benign
R9347:Ehd3 UTSW 17 74,137,391 (GRCm39) missense probably benign 0.12
R9564:Ehd3 UTSW 17 74,137,361 (GRCm39) missense probably benign 0.06
Z1176:Ehd3 UTSW 17 74,112,280 (GRCm39) missense probably benign 0.01
Z1177:Ehd3 UTSW 17 74,137,100 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAACCTGGGACTGGACTGAATCC -3'
(R):5'- TCCCAAGCCCTTCACGAGATAAGAG -3'

Sequencing Primer
(F):5'- TGGACTGAATCCAGCAGC -3'
(R):5'- AGTTTCAGTGCCCAGATCAG -3'
Posted On 2013-05-23