Incidental Mutation 'R3981:Erich6'
ID 351152
Institutional Source Beutler Lab
Gene Symbol Erich6
Ensembl Gene ENSMUSG00000070471
Gene Name glutamate rich 6
Synonyms 4932431H17Rik, Fam194a
MMRRC Submission 040943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R3981 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 58523721-58544628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58544125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 154 (E154G)
Ref Sequence ENSEMBL: ENSMUSP00000040882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041115]
AlphaFold D3Z6S9
Predicted Effect probably benign
Transcript: ENSMUST00000041115
AA Change: E154G

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040882
Gene: ENSMUSG00000070471
AA Change: E154G

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
Meta Mutation Damage Score 0.1380 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,482,407 (GRCm39) C4313G probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bhlhe22 G T 3: 18,109,058 (GRCm39) R36L probably damaging Het
Cacnb2 A G 2: 14,609,314 (GRCm39) E18G probably benign Het
Cct2 G A 10: 116,890,040 (GRCm39) P10L probably damaging Het
Cep295 G T 9: 15,228,363 (GRCm39) probably benign Het
Cep89 A G 7: 35,137,808 (GRCm39) R731G probably damaging Het
Chrnb3 C T 8: 27,884,034 (GRCm39) T257M probably damaging Het
Clca3a1 T A 3: 144,461,070 (GRCm39) T194S probably benign Het
Clca4b T C 3: 144,631,797 (GRCm39) K236R probably benign Het
Col18a1 C A 10: 76,924,721 (GRCm39) D23Y probably damaging Het
Cry1 A T 10: 84,982,456 (GRCm39) Y297N probably damaging Het
Defb38 A G 8: 19,076,483 (GRCm39) probably null Het
Dlgap1 A G 17: 70,823,780 (GRCm39) K255R probably damaging Het
Esf1 G A 2: 140,000,476 (GRCm39) P437S probably benign Het
Fkbp7 A C 2: 76,493,601 (GRCm39) N197K probably damaging Het
Fsip2 T A 2: 82,789,006 (GRCm39) D342E probably benign Het
Gbx1 T C 5: 24,731,213 (GRCm39) D201G probably benign Het
Gm15056 T A 8: 21,390,957 (GRCm39) K25N possibly damaging Het
Grb7 T G 11: 98,345,391 (GRCm39) probably benign Het
H2-M3 C T 17: 37,582,021 (GRCm39) A159V probably damaging Het
Hcar1 T C 5: 124,016,683 (GRCm39) N336S probably benign Het
Ift122 T C 6: 115,890,882 (GRCm39) V807A probably benign Het
Maml2 T C 9: 13,532,364 (GRCm39) V526A possibly damaging Het
Map3k20 C T 2: 72,268,571 (GRCm39) T526I probably damaging Het
Mfap2 A G 4: 140,741,554 (GRCm39) Q71R possibly damaging Het
Mmd2 T C 5: 142,550,554 (GRCm39) Y228C probably damaging Het
Mme T A 3: 63,235,485 (GRCm39) Y178N probably damaging Het
Mras T C 9: 99,293,469 (GRCm39) D57G probably damaging Het
Muc5ac T C 7: 141,367,512 (GRCm39) C2274R possibly damaging Het
Or8j3c T A 2: 86,253,186 (GRCm39) Y278F probably damaging Het
Palmd T C 3: 116,717,472 (GRCm39) T342A probably benign Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rdh19 A G 10: 127,686,017 (GRCm39) N43S probably benign Het
Ros1 G A 10: 51,996,974 (GRCm39) H1233Y possibly damaging Het
Samd8 A G 14: 21,830,248 (GRCm39) R225G probably null Het
Slc7a11 C A 3: 50,382,223 (GRCm39) V175L probably benign Het
Spata31d1c A G 13: 65,182,925 (GRCm39) T156A possibly damaging Het
Spata31g1 C T 4: 42,971,534 (GRCm39) T289I probably damaging Het
Spmip9 T C 6: 70,890,283 (GRCm39) N170D possibly damaging Het
Stxbp5 T C 10: 9,665,060 (GRCm39) probably benign Het
Tec T A 5: 72,980,942 (GRCm39) probably benign Het
Vps16 T C 2: 130,284,514 (GRCm39) W728R possibly damaging Het
Xirp1 T C 9: 119,846,810 (GRCm39) E691G probably damaging Het
Zfp605 T C 5: 110,275,604 (GRCm39) S241P probably damaging Het
Zfp839 G A 12: 110,832,765 (GRCm39) G561D probably damaging 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
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
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'- GTGGCCTGTTACTTTTACTAACCG -3'
(R):5'- CTGTTCCCTGAGTCGTTGAAC -3'

Sequencing Primer
(F):5'- ACACTAGGGGCCATCATGG -3'
(R):5'- CGTTGAACGAAGAAGACATCTG -3'
Posted On 2015-10-08