Incidental Mutation 'R7526:Erich6'
ID 582968
Institutional Source Beutler Lab
Gene Symbol Erich6
Ensembl Gene ENSMUSG00000070471
Gene Name glutamate rich 6
Synonyms 4932431H17Rik, Fam194a
MMRRC Submission 045598-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7526 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 58523721-58544628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58538110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 218 (L218H)
Ref Sequence ENSEMBL: ENSMUSP00000040882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041115]
AlphaFold D3Z6S9
Predicted Effect probably damaging
Transcript: ENSMUST00000041115
AA Change: L218H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040882
Gene: ENSMUSG00000070471
AA Change: L218H

DomainStartEndE-ValueType
coiled coil region 27 77 N/A INTRINSIC
low complexity region 164 174 N/A INTRINSIC
low complexity region 386 400 N/A INTRINSIC
Pfam:FAM194 473 675 5.4e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A T 11: 65,043,807 (GRCm39) F85I unknown Het
Ankrd22 A T 19: 34,126,765 (GRCm39) W22R possibly damaging Het
Aqr A T 2: 113,938,590 (GRCm39) H1287Q probably damaging Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atp8b5 A G 4: 43,366,609 (GRCm39) E791G probably damaging Het
Bicd1 T G 6: 149,415,224 (GRCm39) S646A possibly damaging Het
Bmpr1b A T 3: 141,562,360 (GRCm39) Y276N probably damaging Het
Cadps2 T C 6: 23,496,850 (GRCm39) H465R probably damaging Het
Card11 A T 5: 140,899,184 (GRCm39) probably null Het
Ccdc9 A G 7: 16,016,325 (GRCm39) L139P probably damaging Het
Cdk5rap3 A T 11: 96,800,771 (GRCm39) M355K probably benign Het
Cnot2 A T 10: 116,342,985 (GRCm39) V116E probably benign Het
Defb48 A G 14: 63,215,280 (GRCm39) V32A possibly damaging Het
Dmkn A G 7: 30,477,076 (GRCm39) D460G possibly damaging Het
Dmxl2 A G 9: 54,308,241 (GRCm39) V2170A possibly damaging Het
Dnah1 A T 14: 31,009,833 (GRCm39) F1912I possibly damaging Het
Dok3 C T 13: 55,675,306 (GRCm39) V71I probably benign Het
Dzip3 A T 16: 48,795,837 (GRCm39) F178Y probably damaging Het
Enpp1 T C 10: 24,550,308 (GRCm39) probably null Het
Eogt A G 6: 97,090,913 (GRCm39) F409L probably damaging Het
Fam186a G C 15: 99,839,796 (GRCm39) I2149M possibly damaging Het
Fat1 G A 8: 45,476,464 (GRCm39) V1837I probably damaging Het
Flrt3 T A 2: 140,502,126 (GRCm39) T501S probably damaging Het
Fmn1 A C 2: 113,518,479 (GRCm39) E1365D probably damaging Het
Fzd5 G T 1: 64,775,251 (GRCm39) P170Q probably benign Het
Gm14326 G A 2: 177,588,298 (GRCm39) H233Y probably damaging Het
Gm19410 G A 8: 36,257,766 (GRCm39) V735M probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gm2832 A T 14: 41,002,919 (GRCm39) I143L Het
Greb1 G A 12: 16,766,766 (GRCm39) T344I probably benign Het
Grik2 A T 10: 49,399,918 (GRCm39) Y271N possibly damaging Het
Grin3b A G 10: 79,808,885 (GRCm39) N212D probably benign Het
Hgsnat A G 8: 26,461,077 (GRCm39) L187P probably damaging Het
Hmcn1 A G 1: 150,532,324 (GRCm39) I3152T probably damaging Het
Hsp90aa1 A T 12: 110,661,728 (GRCm39) I96N unknown Het
Il18r1 T A 1: 40,510,932 (GRCm39) L6I probably damaging Het
Ing3 G A 6: 21,953,798 (GRCm39) V80I probably damaging Het
Kif18b T C 11: 102,805,493 (GRCm39) I255V probably damaging Het
Kif2c A T 4: 117,039,629 (GRCm39) N20K possibly damaging Het
Mfsd6l T C 11: 68,448,864 (GRCm39) W572R probably damaging Het
Mybphl A G 3: 108,281,496 (GRCm39) T71A probably benign Het
Myo7a G T 7: 97,734,655 (GRCm39) T613K possibly damaging Het
Nfatc3 T C 8: 106,805,715 (GRCm39) S195P probably damaging Het
Nrg1 T C 8: 32,308,351 (GRCm39) N603S probably benign Het
Or52ae9 T C 7: 103,389,607 (GRCm39) Y280C probably damaging Het
Or8k22 A T 2: 86,163,697 (GRCm39) M1K probably null Het
Or8k37 A G 2: 86,470,013 (GRCm39) I13T possibly damaging Het
Parp8 T C 13: 117,031,341 (GRCm39) E457G probably damaging Het
Pclo T C 5: 14,571,076 (GRCm39) F154L probably benign Het
Pear1 A G 3: 87,659,875 (GRCm39) S704P probably damaging Het
Pkib A G 10: 57,612,394 (GRCm39) T92A probably benign Het
Pnpla7 A G 2: 24,888,678 (GRCm39) R376G possibly damaging Het
Pramel28 A T 4: 143,692,387 (GRCm39) C205S probably benign Het
Ptprd T A 4: 75,984,564 (GRCm39) E527D probably benign Het
Pum1 T C 4: 130,474,337 (GRCm39) V469A probably damaging Het
Rnf148 G A 6: 23,654,283 (GRCm39) Q238* probably null Het
Scn9a A C 2: 66,313,990 (GRCm39) N1909K probably benign Het
Sema3c A T 5: 17,932,594 (GRCm39) H699L possibly damaging Het
Sema3f A T 9: 107,566,927 (GRCm39) C201S probably damaging Het
Serinc2 T A 4: 130,152,583 (GRCm39) D206V probably benign Het
Serping1 A T 2: 84,597,637 (GRCm39) S415T probably benign Het
Sirpb1b A T 3: 15,613,932 (GRCm39) L50Q probably damaging Het
Slc25a22 T C 7: 141,011,296 (GRCm39) E262G probably benign Het
Slc5a8 A G 10: 88,738,353 (GRCm39) I205M probably damaging Het
Sod2 G T 17: 13,226,918 (GRCm39) probably benign Het
Tec T C 5: 72,943,362 (GRCm39) I118V probably benign Het
Tenm3 A T 8: 48,740,847 (GRCm39) V1212E probably damaging Het
Tex44 G A 1: 86,354,237 (GRCm39) V49I probably benign Het
Tmem132d A T 5: 127,861,205 (GRCm39) L972* probably null Het
Tpte G A 8: 22,815,563 (GRCm39) probably null Het
Trim6 T A 7: 103,882,039 (GRCm39) I456N probably damaging Het
Ubr4 G C 4: 139,149,728 (GRCm39) V520L probably benign Het
Ubxn8 A T 8: 34,123,635 (GRCm39) N101K probably benign Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) probably null Het
Vmn2r83 A G 10: 79,327,392 (GRCm39) T667A probably damaging Het
Zpld2 T C 4: 133,927,384 (GRCm39) probably null Het
Other mutations in Erich6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Erich6 APN 3 58,544,464 (GRCm39) missense unknown
IGL01352:Erich6 APN 3 58,529,781 (GRCm39) splice site probably null
IGL01362:Erich6 APN 3 58,529,781 (GRCm39) splice site probably null
IGL01928:Erich6 APN 3 58,528,692 (GRCm39) missense probably damaging 1.00
IGL02930:Erich6 APN 3 58,529,775 (GRCm39) splice site probably benign
IGL03125:Erich6 APN 3 58,531,727 (GRCm39) missense probably benign 0.00
PIT4243001:Erich6 UTSW 3 58,537,300 (GRCm39) missense possibly damaging 0.51
R0081:Erich6 UTSW 3 58,543,547 (GRCm39) splice site probably benign
R0129:Erich6 UTSW 3 58,531,799 (GRCm39) missense probably damaging 1.00
R0308:Erich6 UTSW 3 58,543,525 (GRCm39) missense probably damaging 1.00
R0682:Erich6 UTSW 3 58,544,232 (GRCm39) missense probably benign 0.39
R0734:Erich6 UTSW 3 58,536,809 (GRCm39) splice site probably benign
R0744:Erich6 UTSW 3 58,543,543 (GRCm39) splice site probably benign
R0833:Erich6 UTSW 3 58,526,365 (GRCm39) splice site probably benign
R0836:Erich6 UTSW 3 58,526,365 (GRCm39) splice site probably benign
R1385:Erich6 UTSW 3 58,544,251 (GRCm39) missense probably benign 0.00
R1536:Erich6 UTSW 3 58,534,019 (GRCm39) missense probably benign 0.01
R1570:Erich6 UTSW 3 58,538,080 (GRCm39) critical splice donor site probably null
R1708:Erich6 UTSW 3 58,523,868 (GRCm39) missense probably benign 0.21
R2187:Erich6 UTSW 3 58,537,266 (GRCm39) critical splice donor site probably null
R2268:Erich6 UTSW 3 58,526,260 (GRCm39) missense probably benign 0.03
R2441:Erich6 UTSW 3 58,526,232 (GRCm39) missense probably damaging 1.00
R3803:Erich6 UTSW 3 58,528,753 (GRCm39) missense probably damaging 1.00
R3981:Erich6 UTSW 3 58,544,125 (GRCm39) missense probably benign 0.41
R4166:Erich6 UTSW 3 58,526,229 (GRCm39) missense probably damaging 1.00
R4298:Erich6 UTSW 3 58,531,712 (GRCm39) missense probably benign 0.09
R4729:Erich6 UTSW 3 58,543,480 (GRCm39) critical splice donor site probably null
R4838:Erich6 UTSW 3 58,544,251 (GRCm39) missense probably benign 0.00
R5117:Erich6 UTSW 3 58,530,626 (GRCm39) missense probably benign 0.00
R5305:Erich6 UTSW 3 58,532,537 (GRCm39) missense probably benign 0.21
R5546:Erich6 UTSW 3 58,526,218 (GRCm39) missense probably benign 0.39
R5605:Erich6 UTSW 3 58,532,540 (GRCm39) missense probably damaging 1.00
R6033:Erich6 UTSW 3 58,530,622 (GRCm39) missense probably benign 0.16
R6033:Erich6 UTSW 3 58,530,622 (GRCm39) missense probably benign 0.16
R6378:Erich6 UTSW 3 58,529,780 (GRCm39) splice site probably null
R6606:Erich6 UTSW 3 58,523,921 (GRCm39) missense probably damaging 1.00
R6736:Erich6 UTSW 3 58,532,475 (GRCm39) missense probably damaging 1.00
R6746:Erich6 UTSW 3 58,523,987 (GRCm39) missense possibly damaging 0.69
R6974:Erich6 UTSW 3 58,526,220 (GRCm39) missense probably benign 0.06
R6996:Erich6 UTSW 3 58,543,516 (GRCm39) missense probably damaging 1.00
R7317:Erich6 UTSW 3 58,544,305 (GRCm39) missense probably benign 0.26
R7484:Erich6 UTSW 3 58,534,112 (GRCm39) splice site probably null
R7747:Erich6 UTSW 3 58,526,349 (GRCm39) missense probably damaging 1.00
R7947:Erich6 UTSW 3 58,528,699 (GRCm39) missense possibly damaging 0.63
R8358:Erich6 UTSW 3 58,544,449 (GRCm39) nonsense probably null
R8944:Erich6 UTSW 3 58,537,275 (GRCm39) missense probably benign 0.16
R8965:Erich6 UTSW 3 58,531,738 (GRCm39) missense probably benign 0.02
R9342:Erich6 UTSW 3 58,534,101 (GRCm39) nonsense probably null
R9429:Erich6 UTSW 3 58,536,935 (GRCm39) missense possibly damaging 0.93
R9622:Erich6 UTSW 3 58,544,162 (GRCm39) missense possibly damaging 0.86
R9624:Erich6 UTSW 3 58,536,766 (GRCm39) missense possibly damaging 0.83
R9633:Erich6 UTSW 3 58,537,277 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- GAGGTCTGGTGTCACATGAG -3'
(R):5'- AGAAAACATCAGAACTTTCGATGGG -3'

Sequencing Primer
(F):5'- CTAACAGATGCTGCTGAGGTTAAC -3'
(R):5'- CAGAACTTTCGATGGGCATATG -3'
Posted On 2019-10-17