Incidental Mutation 'R1386:Ehd3'
ID 162390
Institutional Source Beutler Lab
Gene Symbol Ehd3
Ensembl Gene ENSMUSG00000024065
Gene Name EH-domain containing 3
Synonyms Ehd2
MMRRC Submission 039448-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1386 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 73804841-73832093 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73820543 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 157 (I157N)
Ref Sequence ENSEMBL: ENSMUSP00000024860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024860]
AlphaFold Q9QXY6
Predicted Effect probably damaging
Transcript: ENSMUST00000024860
AA Change: I157N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: I157N

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
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 87.0%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,244,255 (GRCm38) I235V probably benign Het
Acsm4 T C 7: 119,698,578 (GRCm38) I146T probably benign Het
Adgrv1 T C 13: 81,528,865 (GRCm38) N1949S probably benign Het
Afdn T C 17: 13,846,536 (GRCm38) V630A probably damaging Het
Amfr A G 8: 93,985,399 (GRCm38) V301A possibly damaging Het
Anapc16 T C 10: 59,996,457 (GRCm38) M45V probably benign Het
Ankrd12 T C 17: 65,983,380 (GRCm38) E1686G possibly damaging Het
Ap2m1 T G 16: 20,541,229 (GRCm38) H193Q probably damaging Het
Aplnr T C 2: 85,137,461 (GRCm38) W277R possibly damaging Het
Aspm A G 1: 139,457,623 (GRCm38) E335G probably benign Het
Aspm C T 1: 139,478,972 (GRCm38) H1866Y possibly damaging Het
Atp8b4 T A 2: 126,378,744 (GRCm38) D578V probably benign Het
Ccr1 T A 9: 123,963,962 (GRCm38) E177V probably benign Het
Cecr2 A G 6: 120,762,131 (GRCm38) E1245G probably damaging Het
Cep162 A T 9: 87,221,202 (GRCm38) C638S probably benign Het
Ces1b A T 8: 93,068,077 (GRCm38) I298N probably benign Het
Chdh T A 14: 30,031,434 (GRCm38) L100Q probably damaging Het
Chrnd T C 1: 87,192,590 (GRCm38) I156T probably damaging Het
Clpx G A 9: 65,326,888 (GRCm38) R605Q probably null Het
Cnga1 T A 5: 72,612,183 (GRCm38) K135* probably null Het
Col6a4 A T 9: 106,062,945 (GRCm38) V1262E probably benign Het
Cracr2b T C 7: 141,463,568 (GRCm38) L53P probably damaging Het
Crhr1 T C 11: 104,174,394 (GRCm38) S372P possibly damaging Het
Cyp11b2 T A 15: 74,851,775 (GRCm38) probably null Het
Cyp21a1 T A 17: 34,802,210 (GRCm38) D373V probably damaging Het
D6Ertd527e C G 6: 87,111,524 (GRCm38) T223S unknown Het
Ddah1 A T 3: 145,889,211 (GRCm38) Y242F probably benign Het
Dlgap3 A G 4: 127,194,926 (GRCm38) D105G possibly damaging Het
Dtl A G 1: 191,569,717 (GRCm38) V76A probably damaging Het
Dzank1 A G 2: 144,491,831 (GRCm38) S361P probably benign Het
Elk4 T C 1: 132,017,830 (GRCm38) F149L probably damaging Het
Eme2 G A 17: 24,892,918 (GRCm38) S263F probably damaging Het
Fam83a A G 15: 57,986,503 (GRCm38) R148G probably damaging Het
Farp2 C A 1: 93,620,151 (GRCm38) probably null Het
Fbxw25 T A 9: 109,654,641 (GRCm38) I168F possibly damaging Het
Fermt1 T C 2: 132,916,058 (GRCm38) D479G probably damaging Het
Fgf17 C A 14: 70,636,770 (GRCm38) R193L probably damaging Het
Foxred2 T G 15: 77,948,521 (GRCm38) probably null Het
Gad1 T C 2: 70,574,123 (GRCm38) V119A possibly damaging Het
Gas2l3 A G 10: 89,414,353 (GRCm38) V301A possibly damaging Het
Gimap8 G A 6: 48,656,653 (GRCm38) V469I probably benign Het
Gja1 A T 10: 56,387,969 (GRCm38) E141D probably benign Het
Glod4 C T 11: 76,222,003 (GRCm38) W268* probably null Het
Gm7173 C T X: 79,509,901 (GRCm38) V323I possibly damaging Het
Guf1 C T 5: 69,563,162 (GRCm38) H309Y probably benign Het
Hax1 A G 3: 89,995,849 (GRCm38) V215A probably damaging Het
Heatr9 T C 11: 83,518,825 (GRCm38) D107G probably benign Het
Hephl1 T A 9: 15,076,754 (GRCm38) Y686F probably benign Het
Hk3 T C 13: 55,007,030 (GRCm38) probably null Het
Ikbkb G T 8: 22,665,617 (GRCm38) Q620K possibly damaging Het
Il18rap C T 1: 40,531,522 (GRCm38) A208V probably benign Het
Kif26b T C 1: 178,915,644 (GRCm38) S1102P probably benign Het
Kif5b A T 18: 6,226,383 (GRCm38) D147E probably damaging Het
Klhl3 T C 13: 58,030,433 (GRCm38) T348A probably damaging Het
Krt10 T C 11: 99,385,920 (GRCm38) probably benign Het
Lama3 A T 18: 12,477,370 (GRCm38) H1124L probably benign Het
Lin7a A T 10: 107,412,122 (GRCm38) Q96L unknown Het
Ly6c2 T G 15: 75,110,589 (GRCm38) I37L probably benign Het
Mov10l1 A G 15: 89,011,386 (GRCm38) Y585C possibly damaging Het
Msr1 G A 8: 39,589,293 (GRCm38) Q414* probably null Het
Myh13 T C 11: 67,370,950 (GRCm38) C1900R possibly damaging Het
Obscn T A 11: 59,133,853 (GRCm38) N454Y probably damaging Het
Olfml2b T G 1: 170,681,162 (GRCm38) Y530D probably damaging Het
Or1ad1 T C 11: 50,985,367 (GRCm38) F222S probably damaging Het
Or4c11 T A 2: 88,865,353 (GRCm38) F249L probably benign Het
Or52s1b T A 7: 103,173,367 (GRCm38) H90L probably benign Het
Or5b24 A T 19: 12,935,139 (GRCm38) T134S probably benign Het
Or7e174 T A 9: 20,101,582 (GRCm38) N274K probably benign Het
Or8j3b A G 2: 86,374,921 (GRCm38) F164L probably damaging Het
Pde10a T G 17: 8,953,742 (GRCm38) V648G probably damaging Het
Pde7b T A 10: 20,418,801 (GRCm38) H258L probably damaging Het
Pik3cb A G 9: 99,064,027 (GRCm38) V582A possibly damaging Het
Plxnb1 T C 9: 109,101,023 (GRCm38) S316P probably benign Het
Pmpca C T 2: 26,392,518 (GRCm38) T246I probably damaging Het
Reep3 A T 10: 67,063,009 (GRCm38) V32D possibly damaging Het
Rfx4 A G 10: 84,863,285 (GRCm38) M252V probably damaging Het
Rnf168 C A 16: 32,298,963 (GRCm38) D447E probably damaging Het
Rnf31 T C 14: 55,596,764 (GRCm38) V518A probably damaging Het
Rnpc3 A T 3: 113,613,784 (GRCm38) L340* probably null Het
Scn2a A G 2: 65,688,741 (GRCm38) E437G probably damaging Het
Scnn1b C A 7: 121,902,488 (GRCm38) N175K possibly damaging Het
Slc39a11 T A 11: 113,247,724 (GRCm38) I344F probably benign Het
Slc9a2 T A 1: 40,719,018 (GRCm38) L239Q probably damaging Het
Smg5 T C 3: 88,355,671 (GRCm38) F794L probably damaging Het
Smim13 C T 13: 41,272,692 (GRCm38) S68L possibly damaging Het
Sos2 A T 12: 69,614,658 (GRCm38) Y680N probably damaging Het
Spag6 T A 2: 18,734,246 (GRCm38) M329K possibly damaging Het
Spire2 G A 8: 123,361,366 (GRCm38) probably null Het
Tdrd9 T A 12: 112,044,804 (GRCm38) V1149D probably benign Het
Tns3 T A 11: 8,518,261 (GRCm38) Y321F probably benign Het
Top3b T C 16: 16,880,629 (GRCm38) V112A probably benign Het
Trafd1 G A 5: 121,379,652 (GRCm38) T26I probably damaging Het
Ttc28 G A 5: 111,225,677 (GRCm38) S962N probably damaging Het
Vmn2r78 T C 7: 86,915,407 (GRCm38) L20S unknown Het
Vmn2r82 A T 10: 79,378,711 (GRCm38) D176V probably damaging Het
Vps13b T C 15: 35,923,312 (GRCm38) F3778L probably damaging Het
Vwa3b T C 1: 37,051,881 (GRCm38) probably null Het
Vwc2 C T 11: 11,154,262 (GRCm38) P265S probably damaging Het
Zbtb9 T A 17: 26,974,638 (GRCm38) I339N probably damaging Het
Zfp335 T C 2: 164,898,241 (GRCm38) T764A probably benign Het
Zfp366 T A 13: 99,246,555 (GRCm38) V742D probably damaging Het
Zfp709 A T 8: 71,890,662 (GRCm38) Y645F probably damaging Het
Zmym2 T A 14: 56,913,091 (GRCm38) C424S probably damaging Het
Other mutations in Ehd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Ehd3 APN 17 73,827,489 (GRCm38) missense probably damaging 0.99
IGL01400:Ehd3 APN 17 73,828,094 (GRCm38) missense probably benign 0.06
IGL01557:Ehd3 APN 17 73,805,280 (GRCm38) missense probably benign
IGL02214:Ehd3 APN 17 73,820,546 (GRCm38) missense probably damaging 1.00
IGL03053:Ehd3 APN 17 73,805,442 (GRCm38) missense probably damaging 0.97
IGL02796:Ehd3 UTSW 17 73,816,401 (GRCm38) missense probably damaging 1.00
R0468:Ehd3 UTSW 17 73,805,379 (GRCm38) missense probably damaging 1.00
R0557:Ehd3 UTSW 17 73,829,933 (GRCm38) missense probably benign 0.00
R1029:Ehd3 UTSW 17 73,816,326 (GRCm38) missense probably benign 0.00
R1295:Ehd3 UTSW 17 73,828,186 (GRCm38) missense probably damaging 0.97
R1796:Ehd3 UTSW 17 73,830,359 (GRCm38) missense probably damaging 1.00
R3821:Ehd3 UTSW 17 73,827,395 (GRCm38) missense probably benign 0.01
R4873:Ehd3 UTSW 17 73,805,304 (GRCm38) missense probably damaging 1.00
R4875:Ehd3 UTSW 17 73,805,304 (GRCm38) missense probably damaging 1.00
R5104:Ehd3 UTSW 17 73,827,447 (GRCm38) missense probably benign 0.44
R5244:Ehd3 UTSW 17 73,830,000 (GRCm38) missense probably benign
R5283:Ehd3 UTSW 17 73,820,503 (GRCm38) missense probably benign
R5339:Ehd3 UTSW 17 73,828,207 (GRCm38) missense possibly damaging 0.63
R5966:Ehd3 UTSW 17 73,827,366 (GRCm38) missense probably damaging 1.00
R5966:Ehd3 UTSW 17 73,827,361 (GRCm38) missense probably damaging 1.00
R6255:Ehd3 UTSW 17 73,805,413 (GRCm38) missense probably benign 0.17
R6906:Ehd3 UTSW 17 73,830,338 (GRCm38) missense probably damaging 1.00
R7113:Ehd3 UTSW 17 73,830,184 (GRCm38) missense probably benign 0.17
R7368:Ehd3 UTSW 17 73,827,462 (GRCm38) missense possibly damaging 0.72
R7410:Ehd3 UTSW 17 73,805,433 (GRCm38) missense probably benign 0.04
R7891:Ehd3 UTSW 17 73,816,392 (GRCm38) missense probably benign 0.19
R8848:Ehd3 UTSW 17 73,829,916 (GRCm38) critical splice acceptor site probably null
R9161:Ehd3 UTSW 17 73,827,485 (GRCm38) nonsense probably null
R9258:Ehd3 UTSW 17 73,820,566 (GRCm38) missense probably benign
R9347:Ehd3 UTSW 17 73,830,396 (GRCm38) missense probably benign 0.12
R9564:Ehd3 UTSW 17 73,830,366 (GRCm38) missense probably benign 0.06
Z1176:Ehd3 UTSW 17 73,805,285 (GRCm38) missense probably benign 0.01
Z1177:Ehd3 UTSW 17 73,830,105 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCCAGGCAACATTTTACTAAGCAC -3'
(R):5'- GGGTTTGGGGAAAGTACATCTCGTC -3'

Sequencing Primer
(F):5'- TACTCCGAAACTGGATGTGGC -3'
(R):5'- gctggatgctagggcac -3'
Posted On 2014-03-17