Incidental Mutation 'R0942:Erich3'
ID 82744
Institutional Source Beutler Lab
Gene Symbol Erich3
Ensembl Gene ENSMUSG00000078161
Gene Name glutamate rich 3
Synonyms 5031409G23Rik, 4922501L14Rik
MMRRC Submission 039081-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0942 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 154416770-154454649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154444788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 518 (D518E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051862] [ENSMUST00000098496]
AlphaFold F6QRE9
Predicted Effect unknown
Transcript: ENSMUST00000051862
AA Change: D321E
SMART Domains Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161
AA Change: D321E

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 unknown
Transcript: ENSMUST00000098496
AA Change: D518E
SMART Domains Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: D518E

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 probably benign
Transcript: ENSMUST00000172865
AA Change: D518E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133995
Gene: ENSMUSG00000042943
AA Change: D518E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
Aass C T 6: 23,075,151 (GRCm39) probably benign Het
Abcb5 C A 12: 118,869,933 (GRCm39) V742F possibly damaging Het
Abcd4 A G 12: 84,659,602 (GRCm39) I165T probably damaging Het
Acer3 T C 7: 97,906,949 (GRCm39) Y119C probably damaging Het
Ap3d1 A T 10: 80,568,789 (GRCm39) probably benign Het
Ascc2 T A 11: 4,618,380 (GRCm39) I325N probably benign Het
Atad2b T A 12: 5,074,591 (GRCm39) I1050N probably damaging Het
Brms1l T C 12: 55,912,742 (GRCm39) V245A probably benign Het
Cadps2 T A 6: 23,263,561 (GRCm39) D1270V probably damaging Het
Cdh23 A T 10: 60,246,639 (GRCm39) M936K possibly damaging Het
Cenpj A G 14: 56,792,666 (GRCm39) probably benign Het
Dner T C 1: 84,563,030 (GRCm39) probably benign Het
Dzip1 T A 14: 119,124,609 (GRCm39) R555* probably null Het
Enpp4 A T 17: 44,412,772 (GRCm39) L254* probably null Het
Gli2 G A 1: 118,765,236 (GRCm39) R972C probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Grb7 T C 11: 98,344,634 (GRCm39) Y346H probably damaging Het
Heg1 T C 16: 33,581,173 (GRCm39) L1192P probably damaging Het
Il16 T A 7: 83,312,349 (GRCm39) Q445L probably benign Het
Il17d C T 14: 57,779,777 (GRCm39) probably benign Het
Kmt2c A T 5: 25,520,301 (GRCm39) N1936K probably benign Het
Lrrc45 T C 11: 120,609,064 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mphosph9 T A 5: 124,400,100 (GRCm39) R934* probably null Het
Nek11 T A 9: 105,172,570 (GRCm39) probably null Het
Nf1 T C 11: 79,329,537 (GRCm39) S634P probably benign Het
Or14c40 T A 7: 86,313,314 (GRCm39) M148K probably damaging Het
Pkhd1l1 T C 15: 44,396,355 (GRCm39) V1959A probably benign Het
Pkp2 G T 16: 16,043,894 (GRCm39) G216V probably benign Het
Ppp1r16a T C 15: 76,578,211 (GRCm39) L394P probably damaging Het
Ptprc G A 1: 137,996,139 (GRCm39) Q1070* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rprd2 A T 3: 95,672,730 (GRCm39) I891N probably damaging Het
Speer1e A T 5: 11,236,488 (GRCm39) T174S probably benign Het
Taf15 T C 11: 83,389,932 (GRCm39) I40T probably damaging Het
Tshz1 A G 18: 84,031,178 (GRCm39) Y1077H probably damaging Het
Ttn T C 2: 76,693,833 (GRCm39) E223G possibly 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
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
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'- CGGCTCTCAACATGCTATTCACAGG -3'
(R):5'- TTCGCTGTCCGAGCATCCAGTATC -3'

Sequencing Primer
(F):5'- GAAATATGACCTCACTGGGTCTC -3'
(R):5'- CGAGCATCCAGTATCCTCATTC -3'
Posted On 2013-11-08