Incidental Mutation 'R2384:Erich3'
ID 247632
Institutional Source Beutler Lab
Gene Symbol Erich3
Ensembl Gene ENSMUSG00000078161
Gene Name glutamate rich 3
Synonyms 5031409G23Rik, 4922501L14Rik
MMRRC Submission 040358-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2384 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 154416770-154454649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 154470288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 107 (E107V)
Ref Sequence ENSEMBL: ENSMUSP00000140929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098496] [ENSMUST00000189969]
AlphaFold F6QRE9
Predicted Effect unknown
Transcript: ENSMUST00000098496
AA Change: E1580V
SMART Domains Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: E1580V

DomainStartEndE-ValueType
internal_repeat_1 18 102 3.73e-10 PROSPERO
internal_repeat_1 155 240 3.73e-10 PROSPERO
low complexity region 501 514 N/A INTRINSIC
low complexity region 756 773 N/A INTRINSIC
low complexity region 792 809 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189969
AA Change: E107V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140929
Gene: ENSMUSG00000078161
AA Change: E107V

DomainStartEndE-ValueType
low complexity region 31 48 N/A INTRINSIC
low complexity region 67 84 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.5%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933414I15Rik A G 11: 50,833,333 (GRCm39) S90P unknown Het
Abca13 T C 11: 9,217,450 (GRCm39) probably benign Het
Chpf C T 1: 75,451,753 (GRCm39) R567H probably benign Het
Cnp A G 11: 100,467,279 (GRCm39) Y74C probably damaging Het
Cul3 A T 1: 80,261,406 (GRCm39) V273D probably damaging Het
Dnmt3a A G 12: 3,951,591 (GRCm39) Y656C probably damaging Het
Fscn2 T C 11: 120,257,559 (GRCm39) S307P possibly damaging Het
Grm5 A G 7: 87,251,936 (GRCm39) E62G probably damaging Het
Hdac4 T C 1: 91,912,207 (GRCm39) Y394C probably benign Het
Hipk2 A G 6: 38,795,306 (GRCm39) I314T probably damaging Het
Hsd17b12 T A 2: 93,863,964 (GRCm39) I293L probably benign Het
Il36g A G 2: 24,082,660 (GRCm39) H145R probably benign Het
Ints12 T A 3: 132,814,864 (GRCm39) probably null Het
Khdrbs2 T C 1: 32,558,976 (GRCm39) S369G probably damaging Het
Klrh1 T A 6: 129,749,343 (GRCm39) H84L probably benign Het
Mup5 T A 4: 61,753,261 (GRCm39) probably null Het
Nlrp4g A G 9: 124,349,707 (GRCm38) noncoding transcript Het
Obscn A G 11: 58,933,663 (GRCm39) probably null Het
Ogdh C A 11: 6,292,526 (GRCm39) A413D probably damaging Het
Podn T C 4: 107,879,269 (GRCm39) E283G probably damaging Het
Ripk1 A G 13: 34,214,026 (GRCm39) D456G probably benign Het
Saxo4 A C 19: 10,458,646 (GRCm39) probably null Het
Scg3 T C 9: 75,573,008 (GRCm39) T308A probably damaging Het
Sele A G 1: 163,878,344 (GRCm39) T228A probably benign Het
Slc41a3 A G 6: 90,603,393 (GRCm39) E138G probably damaging Het
Tmem161a T C 8: 70,630,204 (GRCm39) V104A probably benign Het
Tmem232 G A 17: 65,709,852 (GRCm39) R479W probably damaging Het
Trim26 C T 17: 37,161,781 (GRCm39) P67S probably damaging Het
Trpm8 A G 1: 88,287,378 (GRCm39) Y787C probably benign Het
Ttc28 T A 5: 111,424,074 (GRCm39) V1447D possibly damaging Het
Uaca G A 9: 60,777,199 (GRCm39) A527T probably damaging Het
Ucp2 A G 7: 100,147,461 (GRCm39) I172V probably benign Het
Zzef1 T A 11: 72,749,220 (GRCm39) Y903N probably damaging Het
Other mutations in Erich3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Erich3 APN 3 154,454,156 (GRCm39) missense probably benign 0.44
IGL01141:Erich3 APN 3 154,419,653 (GRCm39) missense probably benign 0.08
IGL01812:Erich3 APN 3 154,419,608 (GRCm39) missense possibly damaging 0.70
IGL02126:Erich3 APN 3 154,419,599 (GRCm39) missense possibly damaging 0.60
IGL03371:Erich3 APN 3 154,433,114 (GRCm39) missense probably damaging 0.97
IGL03386:Erich3 APN 3 154,444,876 (GRCm39) missense possibly damaging 0.80
FR4449:Erich3 UTSW 3 154,469,150 (GRCm39) unclassified probably benign
R0942:Erich3 UTSW 3 154,444,788 (GRCm39) missense probably benign 0.00
R1558:Erich3 UTSW 3 154,419,705 (GRCm39) missense probably damaging 0.99
R1582:Erich3 UTSW 3 154,469,960 (GRCm39) unclassified probably benign
R1674:Erich3 UTSW 3 154,468,260 (GRCm39) unclassified probably benign
R1676:Erich3 UTSW 3 154,468,260 (GRCm39) unclassified probably benign
R1724:Erich3 UTSW 3 154,467,964 (GRCm39) missense possibly damaging 0.89
R1757:Erich3 UTSW 3 154,401,402 (GRCm39) missense probably damaging 0.98
R1771:Erich3 UTSW 3 154,454,109 (GRCm39) missense possibly damaging 0.82
R2410:Erich3 UTSW 3 154,439,240 (GRCm39) missense probably damaging 0.98
R2507:Erich3 UTSW 3 154,404,296 (GRCm39) missense probably null 1.00
R3621:Erich3 UTSW 3 154,454,369 (GRCm39) missense possibly damaging 0.83
R3755:Erich3 UTSW 3 154,469,958 (GRCm39) unclassified probably benign
R3756:Erich3 UTSW 3 154,470,215 (GRCm39) missense possibly damaging 0.66
R3756:Erich3 UTSW 3 154,469,958 (GRCm39) unclassified probably benign
R3832:Erich3 UTSW 3 154,467,998 (GRCm39) missense probably damaging 0.97
R4020:Erich3 UTSW 3 154,419,686 (GRCm39) missense probably damaging 0.97
R4601:Erich3 UTSW 3 154,470,375 (GRCm39) missense unknown
R4628:Erich3 UTSW 3 154,469,324 (GRCm39) missense probably damaging 1.00
R4841:Erich3 UTSW 3 154,410,480 (GRCm39) missense possibly damaging 0.87
R4842:Erich3 UTSW 3 154,410,480 (GRCm39) missense possibly damaging 0.87
R4863:Erich3 UTSW 3 154,470,441 (GRCm39) missense unknown
R4989:Erich3 UTSW 3 154,454,025 (GRCm39) missense possibly damaging 0.85
R5310:Erich3 UTSW 3 154,469,217 (GRCm39) missense probably damaging 1.00
R5596:Erich3 UTSW 3 154,433,033 (GRCm39) missense probably damaging 0.99
R5695:Erich3 UTSW 3 154,439,210 (GRCm39) missense probably damaging 1.00
R5742:Erich3 UTSW 3 154,438,960 (GRCm39) missense probably damaging 1.00
R5859:Erich3 UTSW 3 154,468,134 (GRCm39) missense possibly damaging 0.90
R5916:Erich3 UTSW 3 154,401,460 (GRCm39) missense probably damaging 1.00
R6172:Erich3 UTSW 3 154,469,978 (GRCm39) missense possibly damaging 0.66
R6321:Erich3 UTSW 3 154,433,139 (GRCm39) missense probably damaging 1.00
R6438:Erich3 UTSW 3 154,401,390 (GRCm39) missense probably damaging 1.00
R6520:Erich3 UTSW 3 154,469,102 (GRCm39) missense probably damaging 0.98
R6679:Erich3 UTSW 3 154,468,066 (GRCm39) missense possibly damaging 0.81
R6697:Erich3 UTSW 3 154,469,907 (GRCm39) unclassified probably benign
R6800:Erich3 UTSW 3 154,433,029 (GRCm39) critical splice acceptor site probably null
R6823:Erich3 UTSW 3 154,433,074 (GRCm39) missense probably damaging 1.00
R6855:Erich3 UTSW 3 154,468,286 (GRCm39) nonsense probably null
R6989:Erich3 UTSW 3 154,469,314 (GRCm39) unclassified probably benign
R7400:Erich3 UTSW 3 154,468,214 (GRCm39) missense
R7421:Erich3 UTSW 3 154,439,198 (GRCm39) missense probably damaging 1.00
R7520:Erich3 UTSW 3 154,468,763 (GRCm39) missense unknown
R7553:Erich3 UTSW 3 154,439,137 (GRCm39) missense probably benign 0.01
R7751:Erich3 UTSW 3 154,469,426 (GRCm39) missense unknown
R7768:Erich3 UTSW 3 154,453,968 (GRCm39) missense probably benign 0.00
R7955:Erich3 UTSW 3 154,444,951 (GRCm39) nonsense probably null
R8001:Erich3 UTSW 3 154,419,553 (GRCm39) missense probably benign 0.21
R8101:Erich3 UTSW 3 154,439,150 (GRCm39) missense probably damaging 0.99
R8108:Erich3 UTSW 3 154,425,752 (GRCm39) missense possibly damaging 0.91
R8162:Erich3 UTSW 3 154,470,210 (GRCm39) missense unknown
R8310:Erich3 UTSW 3 154,410,586 (GRCm39) missense
R8360:Erich3 UTSW 3 154,469,991 (GRCm39) missense unknown
R8418:Erich3 UTSW 3 154,415,378 (GRCm39) missense
R8490:Erich3 UTSW 3 154,401,461 (GRCm39) missense
R8545:Erich3 UTSW 3 154,467,996 (GRCm39) unclassified probably benign
R8813:Erich3 UTSW 3 154,468,827 (GRCm39) missense unknown
R8944:Erich3 UTSW 3 154,462,692 (GRCm39) missense
R8987:Erich3 UTSW 3 154,415,340 (GRCm39) missense
R9036:Erich3 UTSW 3 154,468,886 (GRCm39) missense unknown
R9135:Erich3 UTSW 3 154,467,912 (GRCm39) missense
R9175:Erich3 UTSW 3 154,419,601 (GRCm39) missense probably benign 0.02
R9284:Erich3 UTSW 3 154,404,308 (GRCm39) missense
R9339:Erich3 UTSW 3 154,468,872 (GRCm39) missense unknown
R9626:Erich3 UTSW 3 154,444,730 (GRCm39) missense probably benign 0.10
Z1176:Erich3 UTSW 3 154,468,067 (GRCm39) missense
Z1176:Erich3 UTSW 3 154,404,338 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGCAGAGTCAAAGTCAGCTGAC -3'
(R):5'- TCCAGTTTCCTTGGAGGTGC -3'

Sequencing Primer
(F):5'- AGCTGACGGGATCCCTGAG -3'
(R):5'- TAGACACACTCTGCTAAGCTGTC -3'
Posted On 2014-11-11