Incidental Mutation 'R2410:Erich3'
ID 249943
Institutional Source Beutler Lab
Gene Symbol Erich3
Ensembl Gene ENSMUSG00000078161
Gene Name glutamate rich 3
Synonyms 5031409G23Rik, 4922501L14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2410 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 154416770-154454649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154439240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 491 (D491G)
Ref Sequence ENSEMBL: ENSMUSP00000096097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051862] [ENSMUST00000098496]
AlphaFold F6QRE9
Predicted Effect possibly damaging
Transcript: ENSMUST00000051862
AA Change: D294G

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161
AA Change: D294G

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
Pfam:DUF4590 102 217 9.8e-62 PFAM
low complexity region 299 327 N/A INTRINSIC
low complexity region 382 395 N/A INTRINSIC
low complexity region 408 420 N/A INTRINSIC
low complexity region 441 451 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098496
AA Change: D491G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: D491G

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: ENSMUST00000172865
AA Change: D491G

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133995
Gene: ENSMUSG00000042943
AA Change: D491G

DomainStartEndE-ValueType
Pfam:DUF4590 300 413 2.6e-58 PFAM
low complexity region 496 524 N/A INTRINSIC
low complexity region 579 592 N/A INTRINSIC
low complexity region 605 617 N/A INTRINSIC
low complexity region 638 648 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Adgrf5 C A 17: 43,766,157 (GRCm39) N1326K probably benign Het
Ciita A G 16: 10,328,568 (GRCm39) E284G probably damaging Het
Ctbp2 T C 7: 132,616,083 (GRCm39) Y284C probably benign Het
Dnah11 T C 12: 117,991,262 (GRCm39) D2368G probably damaging Het
Enpp3 C T 10: 24,650,716 (GRCm39) V807I probably benign Het
Ero1a C T 14: 45,542,723 (GRCm39) V101I possibly damaging Het
Fbxl7 A G 15: 26,895,111 (GRCm39) Y9H possibly damaging Het
Fzd2 A G 11: 102,496,453 (GRCm39) Y299C possibly damaging Het
Lamc1 G A 1: 153,123,141 (GRCm39) T683M possibly damaging Het
Lrrc39 C T 3: 116,374,899 (GRCm39) P327S probably benign Het
Marf1 A T 16: 13,933,691 (GRCm39) F1566I probably benign Het
Me2 A T 18: 73,924,183 (GRCm39) M343K probably damaging Het
Mlxip T A 5: 123,581,132 (GRCm39) W260R probably damaging Het
Mrps17 T C 5: 129,795,047 (GRCm39) V64A probably damaging Het
Or4c118 A T 2: 88,974,899 (GRCm39) I156N possibly damaging Het
Phldb3 C T 7: 24,323,719 (GRCm39) S450L probably benign Het
Pi4k2a A G 19: 42,093,316 (GRCm39) E219G possibly damaging Het
Polr1a T C 6: 71,951,866 (GRCm39) S1478P probably benign Het
Rab14 T C 2: 35,076,762 (GRCm39) probably null Het
Rnf43 T C 11: 87,623,085 (GRCm39) Y729H possibly damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Sorbs1 T A 19: 40,361,959 (GRCm39) I142F probably damaging Het
Tmem255b A G 8: 13,491,278 (GRCm39) I66V probably benign Het
Vmn2r9 T C 5: 108,996,123 (GRCm39) D175G probably damaging Het
Zfp954 A T 7: 7,120,808 (GRCm39) I74N probably benign 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
R2384:Erich3 UTSW 3 154,470,288 (GRCm39) missense possibly damaging 0.92
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'- AATGGGCCTTGACAGAAAACC -3'
(R):5'- TAGCAAGCACCTCACGCTTC -3'

Sequencing Primer
(F):5'- GGGCCTTGACAGAAAACCATCTTC -3'
(R):5'- TTCCGAAGCCAGGAAGCCTC -3'
Posted On 2014-11-12