Incidental Mutation 'R6736:Erich6'
ID 528390
Institutional Source Beutler Lab
Gene Symbol Erich6
Ensembl Gene ENSMUSG00000070471
Gene Name glutamate rich 6
Synonyms 4932431H17Rik, Fam194a
MMRRC Submission 044854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6736 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 58523721-58544628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58532475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 377 (H377Q)
Ref Sequence ENSEMBL: ENSMUSP00000040882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041115]
AlphaFold D3Z6S9
Predicted Effect probably damaging
Transcript: ENSMUST00000041115
AA Change: H377Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040882
Gene: ENSMUSG00000070471
AA Change: H377Q

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,211,100 (GRCm39) I83T probably benign Het
Aadacl4 T G 4: 144,349,909 (GRCm39) S389A possibly damaging Het
Abca13 A T 11: 9,415,058 (GRCm39) S4042C probably damaging Het
Acaca G A 11: 84,129,664 (GRCm39) V340I probably benign Het
Acox3 T A 5: 35,746,198 (GRCm39) probably null Het
Acsl6 A C 11: 54,215,992 (GRCm39) E124A probably damaging Het
Adamtsl1 T A 4: 86,260,484 (GRCm39) H898Q probably damaging Het
Agl A G 3: 116,575,329 (GRCm39) S603P probably damaging Het
Apobec1 A T 6: 122,558,634 (GRCm39) M31K probably null Het
Astn1 T C 1: 158,338,718 (GRCm39) probably null Het
Atp8a1 G T 5: 67,824,960 (GRCm39) D790E probably damaging Het
Bahd1 T G 2: 118,746,456 (GRCm39) M25R possibly damaging Het
BC034090 A T 1: 155,117,676 (GRCm39) N147K possibly damaging Het
Bfsp2 G T 9: 103,357,403 (GRCm39) A8E possibly damaging Het
Brwd1 A T 16: 95,869,772 (GRCm39) I85N probably damaging Het
Catspere2 T A 1: 177,845,278 (GRCm39) Y99* probably null Het
Ccdc24 T A 4: 117,727,732 (GRCm39) N145I possibly damaging Het
Cdhr5 G T 7: 140,852,444 (GRCm39) Q141K probably damaging Het
Cfap46 A G 7: 139,199,887 (GRCm39) V1998A possibly damaging Het
Csmd1 T A 8: 16,052,626 (GRCm39) Y2166F probably damaging Het
Cul4a T G 8: 13,186,219 (GRCm39) S474A probably benign Het
Cutal A G 2: 34,778,149 (GRCm39) T112A probably benign Het
Dcaf6 A C 1: 165,227,354 (GRCm39) S258A possibly damaging Het
Dek C T 13: 47,252,866 (GRCm39) V180M probably damaging Het
Dspp C A 5: 104,326,041 (GRCm39) D801E unknown Het
Egflam T C 15: 7,249,206 (GRCm39) T871A probably damaging Het
Erbin A T 13: 103,971,274 (GRCm39) S781T possibly damaging Het
Exo5 C A 4: 120,778,953 (GRCm39) G304V probably damaging Het
Eya2 C A 2: 165,557,957 (GRCm39) S184R possibly damaging Het
Fhod1 G A 8: 106,064,522 (GRCm39) probably benign Het
G6pc3 A G 11: 102,084,496 (GRCm39) Y302C possibly damaging Het
Gart T C 16: 91,432,995 (GRCm39) D318G probably benign Het
Gm10300 T C 4: 131,802,246 (GRCm39) probably benign Het
Gm11937 A G 11: 99,500,900 (GRCm39) V39A probably damaging Het
Gnas T C 2: 174,176,044 (GRCm39) M60T probably damaging Het
Grk5 G T 19: 60,879,064 (GRCm39) R16L probably damaging Het
Hcn3 A G 3: 89,059,981 (GRCm39) L221P probably damaging Het
Hddc3 G A 7: 79,992,944 (GRCm39) R20Q possibly damaging Het
Hectd4 T C 5: 121,415,788 (GRCm39) Y530H possibly damaging Het
Igf2bp1 A T 11: 95,863,948 (GRCm39) H247Q probably benign Het
Igkv4-70 T A 6: 69,244,912 (GRCm39) D103V probably damaging Het
Itpr2 T A 6: 146,226,668 (GRCm39) M1359L probably damaging Het
Kalrn A G 16: 34,038,293 (GRCm39) L1013S probably damaging Het
Kctd21 C T 7: 96,997,291 (GRCm39) R255W probably damaging Het
Krt18 T A 15: 101,939,204 (GRCm39) Y263N probably benign Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Larp1 G A 11: 57,933,473 (GRCm39) probably null Het
Lmnb1 A G 18: 56,861,541 (GRCm39) N144S probably damaging Het
Lrp2 T A 2: 69,278,555 (GRCm39) T3933S probably benign Het
Lrrc34 T C 3: 30,679,008 (GRCm39) N363S probably benign Het
Lrriq1 T C 10: 103,017,750 (GRCm39) probably null Het
Mafa C A 15: 75,619,629 (GRCm39) G48V unknown Het
Mboat4 T C 8: 34,591,675 (GRCm39) S371P possibly damaging Het
Mei4 A T 9: 81,907,677 (GRCm39) M237L probably benign Het
Mfsd2a T C 4: 122,845,054 (GRCm39) D219G probably benign Het
Msl2 A G 9: 100,978,201 (GRCm39) N192D probably damaging Het
Mycbp2 C A 14: 103,429,003 (GRCm39) R2358M probably null Het
Myh10 A G 11: 68,636,165 (GRCm39) T185A probably damaging Het
Nipsnap2 T C 5: 129,822,352 (GRCm39) probably null Het
Notch1 T C 2: 26,350,298 (GRCm39) T2281A probably benign Het
Odad2 C A 18: 7,223,586 (GRCm39) V486F probably damaging Het
Or12j4 T C 7: 140,046,800 (GRCm39) S229P probably damaging Het
Or12j4 G T 7: 140,046,834 (GRCm39) C240F probably damaging Het
Or1e1c G T 11: 73,266,402 (GRCm39) V276F probably benign Het
Or4q3 A T 14: 50,582,905 (GRCm39) N300K probably damaging Het
Or5an10 G A 19: 12,275,936 (GRCm39) Q187* probably null Het
Or5d20-ps1 C A 2: 87,931,947 (GRCm39) C128F probably benign Het
Or8c17 T A 9: 38,179,866 (GRCm39) I19N probably damaging Het
Or8g30 A G 9: 39,230,089 (GRCm39) S274P probably damaging Het
Oxct1 T A 15: 4,121,899 (GRCm39) S283T probably benign Het
Pcnx2 G T 8: 126,479,056 (GRCm39) probably null Het
Piwil4 A G 9: 14,627,119 (GRCm39) F424L probably benign Het
Pkhd1l1 T C 15: 44,421,336 (GRCm39) S3035P probably damaging Het
Psmc2 T A 5: 22,005,574 (GRCm39) D218E probably damaging Het
Ptpn7 C T 1: 135,066,974 (GRCm39) P277L probably benign Het
Rgs12 A G 5: 35,180,436 (GRCm39) K27E probably damaging Het
Rp1l1 G T 14: 64,267,173 (GRCm39) A920S possibly damaging Het
Rsbn1l A T 5: 21,113,222 (GRCm39) H433Q probably benign Het
Safb C A 17: 56,913,023 (GRCm39) P913Q possibly damaging Het
Sema7a G A 9: 57,867,854 (GRCm39) V477M probably damaging Het
Serpina16 T A 12: 103,635,191 (GRCm39) T408S possibly damaging Het
Six5 G A 7: 18,828,916 (GRCm39) V119M possibly damaging Het
Slc6a16 C T 7: 44,908,452 (GRCm39) P11S possibly damaging Het
Smg1 A G 7: 117,756,389 (GRCm39) probably benign Het
Sntg1 T A 1: 8,515,274 (GRCm39) I420F probably benign Het
Sptb T C 12: 76,659,954 (GRCm39) D982G possibly damaging Het
Stag3 T A 5: 138,299,761 (GRCm39) F891I probably damaging Het
Sugp1 A G 8: 70,511,953 (GRCm39) E183G probably benign Het
Taf1d T C 9: 15,219,119 (GRCm39) probably null Het
Tapbp T C 17: 34,138,931 (GRCm39) S33P possibly damaging Het
Ubap2 CT CTTGCCCCGGT 4: 41,227,224 (GRCm39) probably benign Het
Ubap2 GCCCGCTTGCCCCGCT GCCCGCTTGCCCCGCTTGCCCCGCT 4: 41,227,210 (GRCm39) probably benign Het
Ubash3a A G 17: 31,450,389 (GRCm39) T355A probably benign Het
Usp16 T G 16: 87,267,285 (GRCm39) V225G probably damaging Het
Utrn A G 10: 12,497,047 (GRCm39) V2454A probably benign Het
Vmn1r191 G T 13: 22,363,720 (GRCm39) F11L probably benign Het
Vmn2r117 A T 17: 23,697,282 (GRCm39) C137S probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp143 T C 7: 109,691,021 (GRCm39) M524T probably damaging Het
Zfp599 A G 9: 22,161,140 (GRCm39) C342R probably damaging Het
Zfp777 T G 6: 48,001,790 (GRCm39) K811Q probably damaging Het
Zfp870 T A 17: 33,102,570 (GRCm39) H254L probably benign 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
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
R7526:Erich6 UTSW 3 58,538,110 (GRCm39) missense probably damaging 1.00
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'- TGACCAGGAATTATAATGAGCTTGC -3'
(R):5'- ACACCTCATTGTGGTTTGGG -3'

Sequencing Primer
(F):5'- AGGAATTATAATGAGCTTGCTTTAGC -3'
(R):5'- AGGTGCTGCTGTCTTCA -3'
Posted On 2018-07-24