Incidental Mutation 'R5551:Ehd4'
ID435113
Institutional Source Beutler Lab
Gene Symbol Ehd4
Ensembl Gene ENSMUSG00000027293
Gene NameEH-domain containing 4
Synonyms2210022F10Rik
MMRRC Submission 043108-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.586) question?
Stock #R5551 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location120089175-120154606 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120127619 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 162 (S162P)
Ref Sequence ENSEMBL: ENSMUSP00000028755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028755]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028755
AA Change: S162P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028755
Gene: ENSMUSG00000027293
AA Change: S162P

DomainStartEndE-ValueType
Pfam:EHD_N 27 59 3e-20 PFAM
Pfam:MMR_HSR1 63 223 6.5e-7 PFAM
Pfam:Dynamin_N 64 224 3.9e-14 PFAM
EH 441 534 1.55e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152366
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik A G 16: 38,827,974 Y258H probably benign Het
AB041806 G T 4: 138,396,001 P3T probably damaging Het
Abl1 C T 2: 31,801,670 A1048V probably benign Het
Acap2 A G 16: 31,104,908 V659A probably damaging Het
Acox1 A G 11: 116,189,491 S29P possibly damaging Het
Adamts1 A G 16: 85,797,746 I405T probably benign Het
Afm A T 5: 90,531,652 E335V probably null Het
Akap6 C T 12: 52,795,964 P32S probably damaging Het
Alk T C 17: 71,875,033 M1332V possibly damaging Het
Ankrd39 C T 1: 36,541,981 G96R probably damaging Het
Atp2c1 C A 9: 105,459,737 A16S probably damaging Het
Ccdc141 T C 2: 77,014,409 E1438G probably damaging Het
Csmd2 T C 4: 128,510,948 Y2376H possibly damaging Het
Csmd3 T C 15: 48,314,096 T349A probably benign Het
Ctsr A T 13: 61,159,543 M313K probably damaging Het
D430042O09Rik T C 7: 125,820,077 F472S probably damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,783,628 probably benign Het
Dync2h1 A G 9: 7,031,718 S3516P possibly damaging Het
Ets2 T C 16: 95,712,121 W114R probably damaging Het
Fignl1 A T 11: 11,801,603 V484E probably damaging Het
Golph3 C A 15: 12,321,836 S35R probably benign Het
Gzf1 T C 2: 148,684,328 Y240H probably damaging Het
Hook3 A G 8: 26,068,611 F75S possibly damaging Het
Ifi209 T A 1: 173,641,197 S198T probably benign Het
Iqch A T 9: 63,496,253 probably null Het
Lrrk2 C T 15: 91,812,350 T2447I probably benign Het
Mesp2 T C 7: 79,811,619 S231P probably benign Het
Muc5b T C 7: 141,868,503 C4459R possibly damaging Het
Myh10 A G 11: 68,768,287 E497G possibly damaging Het
Nalcn A T 14: 123,278,286 V1701E possibly damaging Het
Nat8f1 T C 6: 85,910,909 D23G probably damaging Het
Nfia G A 4: 98,014,260 E250K probably damaging Het
Nup155 A G 15: 8,148,333 M1067V probably benign Het
Olfr1280 T C 2: 111,315,571 F31L possibly damaging Het
Pde4d T A 13: 109,948,396 probably null Het
Rtn4 G A 11: 29,741,011 V1101I probably damaging Het
Sema4c A G 1: 36,552,317 Y348H probably damaging Het
Sema6a A G 18: 47,248,528 V958A possibly damaging Het
Sez6l2 A G 7: 126,966,830 Y677C probably damaging Het
Smad5 T C 13: 56,735,841 C347R probably damaging Het
Smim19 A G 8: 22,463,367 Y95H probably benign Het
Srrm2 C A 17: 23,818,476 probably benign Het
Ssb A G 2: 69,871,130 K390E probably damaging Het
Tars G A 15: 11,391,982 T248M probably damaging Het
Tcirg1 A T 19: 3,898,858 F442L probably damaging Het
Tlk2 A G 11: 105,221,307 E162G probably benign Het
Tmc6 A G 11: 117,769,445 C656R probably damaging Het
Ttn G T 2: 76,889,062 probably benign Het
Uqcrc2 C T 7: 120,645,238 T201I probably damaging Het
Zfp282 G T 6: 47,890,645 A252S possibly damaging Het
Zfp473 G C 7: 44,734,151 P253A probably benign Het
Zfp541 A G 7: 16,090,861 N1068D probably damaging Het
Zfp946 A G 17: 22,455,384 Q373R probably damaging Het
Zmat2 G A 18: 36,793,957 G6R probably benign Het
Other mutations in Ehd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Ehd4 APN 2 120091213 missense probably damaging 1.00
IGL00673:Ehd4 APN 2 120102220 missense probably damaging 1.00
IGL00919:Ehd4 APN 2 120097054 missense possibly damaging 0.75
IGL00964:Ehd4 APN 2 120127682 missense probably benign 0.38
IGL01801:Ehd4 APN 2 120102341 missense probably damaging 1.00
R0436:Ehd4 UTSW 2 120102341 missense probably damaging 1.00
R1398:Ehd4 UTSW 2 120127600 missense probably benign 0.07
R1818:Ehd4 UTSW 2 120102404 nonsense probably null
R1927:Ehd4 UTSW 2 120091492 missense probably benign 0.12
R3870:Ehd4 UTSW 2 120136953 missense probably damaging 1.00
R4178:Ehd4 UTSW 2 120154348 missense probably damaging 1.00
R6153:Ehd4 UTSW 2 120102423 missense probably damaging 1.00
R6164:Ehd4 UTSW 2 120102208 missense possibly damaging 0.70
R6172:Ehd4 UTSW 2 120102256 nonsense probably null
R6684:Ehd4 UTSW 2 120154334 missense probably damaging 1.00
R6986:Ehd4 UTSW 2 120097090 missense probably damaging 1.00
R7282:Ehd4 UTSW 2 120091248 missense probably damaging 1.00
R7354:Ehd4 UTSW 2 120102132 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAGATTTACCTGAGCTGGGTAC -3'
(R):5'- AGGCATCTTTAGCGTCTGTCTAG -3'

Sequencing Primer
(F):5'- AGAATCTATGATACCTCCTCACTTG -3'
(R):5'- AGCGTCTGTCTAGCTTCTTTTTATAG -3'
Posted On2016-10-24