Incidental Mutation 'IGL03055:Erich2'
ID 453370
Institutional Source Beutler Lab
Gene Symbol Erich2
Ensembl Gene ENSMUSG00000075302
Gene Name glutamate rich 2
Synonyms 4933404M02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03055 (G1)
Quality Score 209
Status Validated
Chromosome 2
Chromosomal Location 70339163-70371228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 70339529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 28 (C28F)
Ref Sequence ENSEMBL: ENSMUSP00000122481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100041] [ENSMUST00000134607]
AlphaFold E9Q1A6
Predicted Effect possibly damaging
Transcript: ENSMUST00000100041
AA Change: C28F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097619
Gene: ENSMUSG00000075302
AA Change: C28F

DomainStartEndE-ValueType
low complexity region 63 90 N/A INTRINSIC
low complexity region 93 110 N/A INTRINSIC
low complexity region 268 279 N/A INTRINSIC
low complexity region 347 365 N/A INTRINSIC
low complexity region 428 463 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123137
Predicted Effect possibly damaging
Transcript: ENSMUST00000134607
AA Change: C28F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122481
Gene: ENSMUSG00000075302
AA Change: C28F

DomainStartEndE-ValueType
low complexity region 63 90 N/A INTRINSIC
low complexity region 93 110 N/A INTRINSIC
low complexity region 242 253 N/A INTRINSIC
low complexity region 321 339 N/A INTRINSIC
low complexity region 402 437 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151851
Predicted Effect probably benign
Transcript: ENSMUST00000153121
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900041M22Rik T A 11: 117,503,072 (GRCm39) noncoding transcript Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
A430005L14Rik T A 4: 154,045,092 (GRCm39) S40R probably benign Het
Aire A G 10: 77,878,903 (GRCm39) L48P probably damaging Het
Alkbh8 T C 9: 3,345,882 (GRCm39) probably benign Het
Aqp7 A G 4: 41,045,326 (GRCm39) M18T probably benign Het
Cchcr1 T A 17: 35,837,516 (GRCm39) M406K probably benign Het
Cdhr1 A T 14: 36,817,054 (GRCm39) D102E probably benign Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Clec16a T A 16: 10,559,645 (GRCm39) S973T probably damaging Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Csmd1 A G 8: 16,145,515 (GRCm39) Y1471H probably damaging Het
Dnah12 A G 14: 26,594,697 (GRCm39) Y3489C probably damaging Het
Ect2 T C 3: 27,191,211 (GRCm39) E464G probably damaging Het
Enpp2 C A 15: 54,729,481 (GRCm39) probably null Het
Fam135b A T 15: 71,493,883 (GRCm39) H15Q possibly damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Gfral T A 9: 76,115,831 (GRCm39) T48S probably benign Het
Itga10 A G 3: 96,557,836 (GRCm39) E293G probably damaging Het
Lrp2 A T 2: 69,288,792 (GRCm39) N3691K probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nefm T C 14: 68,360,358 (GRCm39) T371A probably damaging Het
Nkain3 C A 4: 20,778,308 (GRCm39) C3F probably benign Het
Nol4l G C 2: 153,278,190 (GRCm39) silent Het
Nprl3 C A 11: 32,198,230 (GRCm39) probably benign Het
Or52p1 A T 7: 104,267,413 (GRCm39) I176F probably damaging Het
Pate2 T C 9: 35,523,069 (GRCm39) probably benign Het
Pde4d A G 13: 110,071,879 (GRCm39) K128R probably damaging Het
Ptprt A G 2: 161,375,533 (GRCm39) L1329P probably damaging Het
Rapgef3 T C 15: 97,647,370 (GRCm39) probably benign Het
Rassf5 T C 1: 131,172,732 (GRCm39) I46V probably benign Het
Rin1 C T 19: 5,103,187 (GRCm39) T481I probably benign Het
Samd4b A G 7: 28,104,971 (GRCm39) L524P possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Srebf1 T C 11: 60,097,902 (GRCm39) silent Het
Ssh2 C T 11: 77,299,021 (GRCm39) Q123* probably null Het
St18 G T 1: 6,872,959 (GRCm39) L231F probably damaging Het
Stk11 A C 10: 79,963,920 (GRCm39) D96A probably damaging Het
Svil A G 18: 5,108,615 (GRCm39) T1918A probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tlr1 C A 5: 65,083,939 (GRCm39) V213F probably benign Het
Trappc10 C T 10: 78,050,520 (GRCm39) R307Q probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Wnt6 G A 1: 74,822,013 (GRCm39) R198H probably damaging Het
Yipf2 A T 9: 21,501,019 (GRCm39) V98E probably benign Het
Zc3h15 A G 2: 83,491,515 (GRCm39) T248A possibly damaging Het
Zc3hav1 C T 6: 38,293,251 (GRCm39) probably null Het
Zfp697 T G 3: 98,332,810 (GRCm39) C79G possibly damaging Het
Other mutations in Erich2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02596:Erich2 APN 2 70,343,147 (GRCm39) intron probably benign
IGL02945:Erich2 APN 2 70,364,738 (GRCm39) missense probably damaging 0.99
IGL03227:Erich2 APN 2 70,343,114 (GRCm39) intron probably benign
R0503:Erich2 UTSW 2 70,371,119 (GRCm39) missense unknown
R0503:Erich2 UTSW 2 70,340,043 (GRCm39) missense probably damaging 0.96
R1134:Erich2 UTSW 2 70,366,535 (GRCm39) nonsense probably null
R1496:Erich2 UTSW 2 70,343,117 (GRCm39) intron probably benign
R3689:Erich2 UTSW 2 70,371,097 (GRCm39) missense unknown
R4027:Erich2 UTSW 2 70,343,134 (GRCm39) intron probably benign
R4833:Erich2 UTSW 2 70,364,636 (GRCm39) missense possibly damaging 0.92
R6284:Erich2 UTSW 2 70,370,028 (GRCm39) missense probably damaging 1.00
R6884:Erich2 UTSW 2 70,339,505 (GRCm39) missense possibly damaging 0.94
R7485:Erich2 UTSW 2 70,362,109 (GRCm39) missense probably damaging 1.00
R7497:Erich2 UTSW 2 70,364,666 (GRCm39) missense probably damaging 1.00
R8356:Erich2 UTSW 2 70,357,873 (GRCm39) splice site probably null
R8998:Erich2 UTSW 2 70,361,964 (GRCm39) unclassified probably benign
R9698:Erich2 UTSW 2 70,371,055 (GRCm39) missense unknown
Z1176:Erich2 UTSW 2 70,339,458 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GTTCATTCAGATCCAGAGGCAC -3'
(R):5'- TGTTTCCTCGAAGGGCAGAC -3'

Sequencing Primer
(F):5'- GATCCAGAGGCACCCAGC -3'
(R):5'- TTCCGAGTTGCGAGCCTG -3'
Posted On 2017-02-03