Incidental Mutation 'R0468:Ehd3'
ID41772
Institutional Source Beutler Lab
Gene Symbol Ehd3
Ensembl Gene ENSMUSG00000024065
Gene NameEH-domain containing 3
SynonymsEhd2
MMRRC Submission 038668-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0468 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location73804841-73832093 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73805379 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 46 (H46R)
Ref Sequence ENSEMBL: ENSMUSP00000024860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024860]
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: 71,193,310 H1298R possibly damaging Het
5530400C23Rik T C 6: 133,294,458 L155P probably benign Het
6820408C15Rik A T 2: 152,441,266 R283S probably benign Het
Aldh1l2 T A 10: 83,518,678 E104D probably benign Het
Anxa3 T C 5: 96,811,099 V22A probably benign Het
Bcl7b T C 5: 135,180,883 F188L probably benign Het
Brinp1 T A 4: 68,762,776 I506F probably damaging Het
Bsdc1 T C 4: 129,461,718 probably benign Het
Ccdc180 T C 4: 45,923,271 I1075T possibly damaging Het
Cep162 A G 9: 87,193,697 L1294P probably damaging Het
Cltc G A 11: 86,704,626 probably benign Het
Col11a1 T C 3: 114,217,058 probably benign Het
Col14a1 A T 15: 55,388,646 Y566F unknown Het
Dhx29 A G 13: 112,963,277 Q1148R probably benign Het
Ehbp1 A G 11: 22,169,184 probably benign Het
Fam171a1 T C 2: 3,225,396 V522A probably benign Het
Gm4553 C A 7: 142,165,625 C22F unknown Het
Hibadh C T 6: 52,557,770 probably benign Het
Hspg2 G A 4: 137,533,529 C1613Y probably damaging Het
Hydin G T 8: 110,413,223 C708F possibly damaging Het
Ifi208 A T 1: 173,683,481 M401L probably benign Het
Igsf8 G A 1: 172,318,796 V454M probably damaging Het
Irx4 G T 13: 73,266,720 probably benign Het
Kcnh4 C T 11: 100,746,932 G633E probably benign Het
Kcnn2 C T 18: 45,559,471 T38M possibly damaging Het
L3mbtl3 C T 10: 26,327,732 R400H unknown Het
Lrp6 T C 6: 134,485,661 T679A possibly damaging Het
Map9 T C 3: 82,374,203 probably null Het
Men1 T A 19: 6,336,923 V5E probably null Het
Mettl14 T C 3: 123,371,412 D93G probably damaging Het
Neb G T 2: 52,211,556 R4601S probably damaging Het
Nell1 A G 7: 50,228,846 T272A probably damaging Het
Olfr1115 A T 2: 87,252,255 N106I probably benign Het
Olfr319 A T 11: 58,701,793 I31F probably damaging Het
Pclo C A 5: 14,677,288 probably benign Het
Pdia5 A G 16: 35,397,507 L502P probably damaging Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Plxna4 C A 6: 32,215,246 C803F probably damaging Het
Pmfbp1 A G 8: 109,513,968 probably null Het
Ptgs1 A G 2: 36,249,193 Y468C probably damaging Het
Pxdn G T 12: 29,994,486 G488W probably damaging Het
Safb C T 17: 56,606,025 R914C probably damaging Het
Sec31b T A 19: 44,518,508 probably benign Het
Shank3 G A 15: 89,549,275 V1333I probably benign Het
Slamf1 A G 1: 171,792,371 probably benign Het
Slc23a3 T A 1: 75,133,230 Q131L possibly damaging Het
Slc7a11 A G 3: 50,384,051 V303A probably damaging Het
Slc7a13 T A 4: 19,841,500 V449D probably benign Het
Srp68 A T 11: 116,248,764 I453K probably damaging Het
Steap3 A T 1: 120,234,300 V414D probably damaging Het
Tagln2 A G 1: 172,506,221 N131D probably benign Het
Tmem132d T C 5: 128,269,203 Y85C probably damaging Het
Vcam1 A T 3: 116,115,946 Y577* probably null Het
Vmn1r214 A G 13: 23,035,253 T306A probably benign Het
Zfyve1 A T 12: 83,555,274 probably benign Het
Zgrf1 T A 3: 127,562,041 N305K possibly 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
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
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
Z1176:Ehd3 UTSW 17 73805285 missense probably benign 0.01
Z1177:Ehd3 UTSW 17 73830105 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 On2013-05-23