Incidental Mutation 'R5339:Ehd3'
ID 423725
Institutional Source Beutler Lab
Gene Symbol Ehd3
Ensembl Gene ENSMUSG00000024065
Gene Name EH-domain containing 3
Synonyms Ehd2
MMRRC Submission 042918-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5339 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 74111836-74139088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74135202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 359 (M359I)
Ref Sequence ENSEMBL: ENSMUSP00000024860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024860]
AlphaFold Q9QXY6
Predicted Effect possibly damaging
Transcript: ENSMUST00000024860
AA Change: M359I

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: M359I

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 0.1222 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (57/59)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb C T 10: 10,318,350 (GRCm39) G158E probably damaging Het
Adgrl2 C T 3: 148,523,480 (GRCm39) R1256H probably benign Het
C3 C A 17: 57,531,308 (GRCm39) V329F probably damaging Het
Ccdc50 C T 16: 27,236,055 (GRCm39) H130Y probably damaging Het
Chrna7 A G 7: 62,749,055 (GRCm39) S476P probably damaging Het
Crtc1 A T 8: 70,850,383 (GRCm39) probably benign Het
Dnah12 A G 14: 26,536,494 (GRCm39) T2137A possibly damaging Het
Fastkd3 G A 13: 68,738,283 (GRCm39) G611R probably damaging Het
Foxa2 T A 2: 147,886,354 (GRCm39) S154C probably damaging Het
Gfm2 T C 13: 97,311,548 (GRCm39) I733T probably benign Het
Gm1968 T C 16: 29,781,077 (GRCm39) noncoding transcript Het
Gmfg-ps T C 6: 4,893,401 (GRCm39) noncoding transcript Het
Gzmd A T 14: 56,368,140 (GRCm39) N106K possibly damaging Het
Huwe1 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA X: 150,690,044 (GRCm39) probably benign Het
Ipo5 T C 14: 121,181,122 (GRCm39) W883R probably damaging Het
Itpr1 T A 6: 108,370,922 (GRCm39) V1063D probably damaging Het
Kansl3 A C 1: 36,406,802 (GRCm39) probably benign Het
Klkb1 C A 8: 45,723,748 (GRCm39) V556F possibly damaging Het
Krtap14 C A 16: 88,622,747 (GRCm39) R77S probably benign Het
Leng8 T A 7: 4,148,285 (GRCm39) Y686N possibly damaging Het
Mctp1 C A 13: 76,973,825 (GRCm39) probably benign Het
Moxd2 T C 6: 40,862,354 (GRCm39) Y155C probably damaging Het
Ofcc1 A G 13: 40,241,321 (GRCm39) V729A probably benign Het
Or2w6 G A 13: 21,843,404 (GRCm39) L30F probably benign Het
Or4k1 C A 14: 50,377,759 (GRCm39) M112I probably damaging Het
Or7g27 G A 9: 19,250,455 (GRCm39) G233E possibly damaging Het
Or8g30 A T 9: 39,230,599 (GRCm39) F104I possibly damaging Het
Or8g37 T A 9: 39,731,229 (GRCm39) M98K probably damaging Het
Pdia4 C T 6: 47,773,619 (GRCm39) A577T possibly damaging Het
Pex5 A T 6: 124,374,963 (GRCm39) S629T probably benign Het
Pnpla7 T C 2: 24,892,949 (GRCm39) S146P probably benign Het
Prune2 G A 19: 17,098,236 (GRCm39) E1247K probably damaging Het
Reg3a A G 6: 78,360,522 (GRCm39) probably null Het
Snx8 G A 5: 140,343,905 (GRCm39) R78C probably damaging Het
Sstr5 T C 17: 25,710,173 (GRCm39) E352G probably benign Het
Svep1 T C 4: 58,121,892 (GRCm39) Y767C possibly damaging Het
Tbx15 G A 3: 99,223,600 (GRCm39) V263M possibly damaging Het
Tdrd9 T C 12: 111,993,556 (GRCm39) Y695H probably damaging Het
Tep1 A T 14: 51,082,031 (GRCm39) L1174Q probably damaging Het
Tg T A 15: 66,549,942 (GRCm39) Y235N probably damaging Het
Tha1 C A 11: 117,761,908 (GRCm39) R111L possibly damaging Het
Trim17 C T 11: 58,845,336 (GRCm39) probably null Het
Trim72 A G 7: 127,609,505 (GRCm39) T436A probably benign Het
Uba7 C T 9: 107,856,065 (GRCm39) A480V probably damaging Het
Ublcp1 A T 11: 44,346,435 (GRCm39) S313T probably benign Het
Ubqlnl A G 7: 103,798,972 (GRCm39) V175A probably benign Het
Vps26a A G 10: 62,294,746 (GRCm39) L276P probably damaging Het
Zdhhc21 C T 4: 82,756,550 (GRCm39) G110S probably damaging Het
Zfp236 T C 18: 82,642,491 (GRCm39) E1133G probably damaging Het
Zfp800 A T 6: 28,256,472 (GRCm39) S39T probably 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
R0468:Ehd3 UTSW 17 74,112,374 (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
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'- TTTGTCAGGTCCACGCCTAC -3'
(R):5'- ATATGTTGAACATGTGGCCTTCAC -3'

Sequencing Primer
(F):5'- GCCTACATCATCAGCTCCTTGAAG -3'
(R):5'- ACATGTGGCCTTCACTAGGTAAG -3'
Posted On 2016-08-04