Incidental Mutation 'R9087:Erich1'
ID 690687
Institutional Source Beutler Lab
Gene Symbol Erich1
Ensembl Gene ENSMUSG00000051978
Gene Name glutamate rich 1
Synonyms
MMRRC Submission 068906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R9087 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 14077561-14140301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14083623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 149 (D149G)
Ref Sequence ENSEMBL: ENSMUSP00000106436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110813] [ENSMUST00000211242]
AlphaFold E9PY43
Predicted Effect probably damaging
Transcript: ENSMUST00000110813
AA Change: D149G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106436
Gene: ENSMUSG00000051978
AA Change: D149G

DomainStartEndE-ValueType
low complexity region 110 121 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 188 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211242
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,768,169 (GRCm39) D180G probably damaging Het
Abcb6 A T 1: 75,150,211 (GRCm39) I649K probably damaging Het
Ace T C 11: 105,872,745 (GRCm39) F969S probably damaging Het
Ankrd26 A G 6: 118,536,230 (GRCm39) probably null Het
Apobec1 A T 6: 122,558,700 (GRCm39) L9* probably null Het
Atp13a1 A G 8: 70,256,457 (GRCm39) D865G probably damaging Het
Barhl1 T C 2: 28,805,231 (GRCm39) Y154C probably damaging Het
Bbx T C 16: 50,094,998 (GRCm39) D106G probably damaging Het
Cacna1a G A 8: 85,365,432 (GRCm39) A2192T probably benign Het
Cacnb1 T C 11: 97,893,833 (GRCm39) N563S possibly damaging Het
Capn5 A T 7: 97,775,531 (GRCm39) I470N probably damaging Het
Cd300c T C 11: 114,850,591 (GRCm39) T71A probably damaging Het
Celf4 T A 18: 25,637,327 (GRCm39) S223C probably damaging Het
Cftr A C 6: 18,214,180 (GRCm39) I119L possibly damaging Het
Cmya5 T C 13: 93,233,711 (GRCm39) E459G possibly damaging Het
Cntn2 A G 1: 132,453,108 (GRCm39) Y395H probably damaging Het
Cntnap3 T C 13: 64,899,532 (GRCm39) D987G probably damaging Het
Col5a2 T A 1: 45,481,818 (GRCm39) D102V unknown Het
Cpeb2 T C 5: 43,438,461 (GRCm39) F812L Het
Cpsf3 T A 12: 21,358,995 (GRCm39) L565Q probably damaging Het
Ctnnd1 A C 2: 84,439,922 (GRCm39) L796R probably damaging Het
Dach1 A G 14: 98,406,267 (GRCm39) L160P probably benign Het
Dennd1a A C 2: 37,911,366 (GRCm39) probably null Het
Dnah12 T C 14: 26,546,503 (GRCm39) I2431T probably damaging Het
Ep400 A T 5: 110,815,430 (GRCm39) Y2887* probably null Het
Fut2 T C 7: 45,300,493 (GRCm39) N93S probably damaging Het
Gba2 C T 4: 43,568,304 (GRCm39) A688T probably benign Het
Gcm2 C G 13: 41,263,406 (GRCm39) E9Q Het
Gfod1 T C 13: 43,353,838 (GRCm39) E379G probably damaging Het
Gfod2 A G 8: 106,454,851 (GRCm39) F10L probably damaging Het
Gm4871 T G 5: 144,969,088 (GRCm39) H75P possibly damaging Het
Gtpbp3 T A 8: 71,944,999 (GRCm39) V418E probably benign Het
Hif1a T A 12: 73,989,099 (GRCm39) I688K probably benign Het
Ifi44 G T 3: 151,451,517 (GRCm39) S196R probably damaging Het
Igfn1 T C 1: 135,902,606 (GRCm39) probably null Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kl A G 5: 150,911,957 (GRCm39) K569E probably benign Het
Klkb1 G A 8: 45,728,515 (GRCm39) Q415* probably null Het
L1td1 A G 4: 98,624,699 (GRCm39) D298G possibly damaging Het
L2hgdh C T 12: 69,749,131 (GRCm39) R252Q probably benign Het
Lipc C G 9: 70,709,390 (GRCm39) K452N probably benign Het
Lrp10 C A 14: 54,705,621 (GRCm39) S270R probably damaging Het
Ly6e T G 15: 74,829,649 (GRCm39) L14R probably benign Het
Mast3 T C 8: 71,242,330 (GRCm39) D90G possibly damaging Het
Mmp27 T C 9: 7,579,858 (GRCm39) F444S probably damaging Het
Mrgpra2b A T 7: 47,114,518 (GRCm39) N71K probably benign Het
Nbea C A 3: 55,550,157 (GRCm39) probably null Het
Ndufb10 A G 17: 24,943,159 (GRCm39) probably null Het
Ndufb9 C T 15: 58,811,151 (GRCm39) P146S probably benign Het
Nhsl1 T C 10: 18,407,030 (GRCm39) V1388A probably damaging Het
Nomo1 C A 7: 45,732,748 (GRCm39) D1170E probably benign Het
Nop2 G T 6: 125,114,391 (GRCm39) R254L probably benign Het
Nup160 A T 2: 90,514,429 (GRCm39) T126S probably benign Het
Opa1 A G 16: 29,437,053 (GRCm39) D654G probably damaging Het
Or1j15 T C 2: 36,459,345 (GRCm39) L245P probably damaging Het
Or2j6 A T 7: 139,980,547 (GRCm39) C137* probably null Het
Or51h1 A G 7: 102,308,964 (GRCm39) K312R probably benign Het
Or52e8b C T 7: 104,673,910 (GRCm39) W92* probably null Het
Or5aq1b A G 2: 86,902,299 (GRCm39) Y60H probably damaging Het
Or5p68 A G 7: 107,945,958 (GRCm39) S77P probably damaging Het
Or8b52 A G 9: 38,576,711 (GRCm39) L143P probably damaging Het
Or8k18 A G 2: 86,085,380 (GRCm39) M219T probably benign Het
Osbp2 T A 11: 3,667,976 (GRCm39) D7V probably damaging Het
Osr2 A T 15: 35,301,010 (GRCm39) I189F probably damaging Het
Pdlim5 A G 3: 142,058,594 (GRCm39) V50A possibly damaging Het
Pik3r3 A G 4: 116,148,931 (GRCm39) N334S probably benign Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Ppfia4 A G 1: 134,240,326 (GRCm39) I889T probably damaging Het
Prpf38b T C 3: 108,811,657 (GRCm39) K403E unknown Het
Rgs20 T G 1: 4,994,190 (GRCm39) E31A possibly damaging Het
Rpl11 A T 4: 135,780,000 (GRCm39) M12K possibly damaging Het
Rreb1 C A 13: 38,115,644 (GRCm39) T1001K probably benign Het
Ruvbl1 A G 6: 88,474,355 (GRCm39) K453E probably benign Het
Sdc4 A T 2: 164,270,959 (GRCm39) V100D probably benign Het
Simc1 C A 13: 54,672,147 (GRCm39) T165K probably benign Het
Slc2a3 A G 6: 122,717,408 (GRCm39) V16A probably benign Het
Smbd1 A T 16: 32,627,130 (GRCm39) S53T possibly damaging Het
Smndc1 A T 19: 53,372,074 (GRCm39) N113K possibly damaging Het
Tas2r139 T G 6: 42,118,168 (GRCm39) F100C probably damaging Het
Tubgcp5 A G 7: 55,467,106 (GRCm39) Y692C probably damaging Het
Ube2d2a T C 18: 35,933,197 (GRCm39) I78T probably benign Het
Ugt2b37 C T 5: 87,401,996 (GRCm39) V212I probably benign Het
Wars2 A G 3: 99,124,063 (GRCm39) D308G possibly damaging Het
Yeats2 G A 16: 20,030,500 (GRCm39) probably null Het
Zfp385a G T 15: 103,224,318 (GRCm39) H219N possibly damaging Het
Zfp407 T C 18: 84,227,982 (GRCm39) T1876A probably damaging Het
Other mutations in Erich1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Erich1 APN 8 14,083,770 (GRCm39) splice site probably benign
IGL00927:Erich1 APN 8 14,083,518 (GRCm39) missense probably damaging 1.00
IGL01448:Erich1 APN 8 14,128,853 (GRCm39) missense possibly damaging 0.95
R1165:Erich1 UTSW 8 14,140,530 (GRCm39) unclassified probably benign
R1541:Erich1 UTSW 8 14,080,688 (GRCm39) missense probably damaging 0.97
R1699:Erich1 UTSW 8 14,140,259 (GRCm39) missense possibly damaging 0.73
R2094:Erich1 UTSW 8 14,140,527 (GRCm39) unclassified probably benign
R2153:Erich1 UTSW 8 14,128,773 (GRCm39) missense probably benign 0.08
R3807:Erich1 UTSW 8 14,083,695 (GRCm39) missense probably benign 0.11
R5787:Erich1 UTSW 8 14,083,776 (GRCm39) splice site probably null
R6119:Erich1 UTSW 8 14,083,692 (GRCm39) missense probably benign
R7034:Erich1 UTSW 8 14,114,330 (GRCm39) missense probably benign 0.02
R7363:Erich1 UTSW 8 14,083,688 (GRCm39) missense probably benign 0.05
R7687:Erich1 UTSW 8 14,080,691 (GRCm39) missense probably damaging 0.99
R9376:Erich1 UTSW 8 14,080,719 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCTCAATGTCTTCCTGGG -3'
(R):5'- GGATGTCATGGCTCTCTCATC -3'

Sequencing Primer
(F):5'- ATGTCTGTGACCGAGCGCTC -3'
(R):5'- TGGAACTTCCTGAGCAAC -3'
Posted On 2021-12-30