Incidental Mutation 'R6800:Erich3'
ID 533257
Institutional Source Beutler Lab
Gene Symbol Erich3
Ensembl Gene ENSMUSG00000078161
Gene Name glutamate rich 3
Synonyms 5031409G23Rik, 4922501L14Rik
MMRRC Submission 044913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6800 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 154416770-154454649 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 154433029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051862] [ENSMUST00000051862] [ENSMUST00000051862] [ENSMUST00000051862] [ENSMUST00000098496] [ENSMUST00000098496] [ENSMUST00000098496] [ENSMUST00000098496]
AlphaFold F6QRE9
Predicted Effect probably null
Transcript: ENSMUST00000051862
SMART Domains Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161

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 null
Transcript: ENSMUST00000051862
SMART Domains Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161

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 null
Transcript: ENSMUST00000051862
SMART Domains Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161

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 null
Transcript: ENSMUST00000051862
SMART Domains Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161

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 null
Transcript: ENSMUST00000098496
SMART Domains Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161

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 null
Transcript: ENSMUST00000098496
SMART Domains Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161

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 null
Transcript: ENSMUST00000098496
SMART Domains Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161

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 null
Transcript: ENSMUST00000098496
SMART Domains Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161

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
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 60,992,948 (GRCm39) P244S probably damaging Het
9130023H24Rik C A 7: 127,836,742 (GRCm39) probably benign Het
Acoxl A T 2: 127,852,085 (GRCm39) Q129L probably damaging Het
Akna T C 4: 63,316,268 (GRCm39) T32A probably benign Het
Alox15 C T 11: 70,235,645 (GRCm39) probably null Het
Antxrl T C 14: 33,787,864 (GRCm39) S296P probably damaging Het
Arrb2 G T 11: 70,328,142 (GRCm39) G52* probably null Het
Bltp2 T C 11: 78,179,105 (GRCm39) F2091S probably benign Het
Capn2 A T 1: 182,309,045 (GRCm39) I499N probably damaging Het
Cfhr4 T A 1: 139,629,719 (GRCm39) D683V possibly damaging Het
Cspg4b T A 13: 113,504,686 (GRCm39) D396E probably benign Het
Cubn T A 2: 13,326,066 (GRCm39) I2700F probably damaging Het
Cypt4 A T 9: 24,536,965 (GRCm39) N152Y probably benign Het
Dmxl2 T C 9: 54,316,467 (GRCm39) N1640D probably damaging Het
Dnah7b A T 1: 46,379,377 (GRCm39) N3704Y possibly damaging Het
Dnah9 A G 11: 65,963,565 (GRCm39) probably null Het
Elac2 G A 11: 64,890,265 (GRCm39) probably null Het
Espnl T C 1: 91,270,351 (GRCm39) V386A probably damaging Het
Fbxl6 T A 15: 76,422,898 (GRCm39) probably benign Het
Fdps A C 3: 89,008,068 (GRCm39) F17V probably damaging Het
Gigyf2 T C 1: 87,346,898 (GRCm39) I576T possibly damaging Het
Gm20939 A G 17: 95,184,657 (GRCm39) E435G possibly damaging Het
Hivep1 G A 13: 42,310,852 (GRCm39) V1031I probably damaging Het
Hydin T G 8: 111,324,603 (GRCm39) S4655A probably benign Het
Ifrd1 T A 12: 40,273,157 (GRCm39) probably benign Het
Iqgap1 G T 7: 80,378,729 (GRCm39) T1219K possibly damaging Het
Lmtk3 G A 7: 45,443,233 (GRCm39) E639K possibly damaging Het
Map3k5 A G 10: 20,017,326 (GRCm39) *1373W probably null Het
Mia2 G A 12: 59,235,332 (GRCm39) probably null Het
Micu2 T C 14: 58,156,896 (GRCm39) D313G possibly damaging Het
Mrgpra4 A G 7: 47,631,371 (GRCm39) S77P probably damaging Het
Mrpl51 T C 6: 125,169,367 (GRCm39) V17A probably benign Het
Neurod4 A T 10: 130,106,661 (GRCm39) Y204* probably null Het
Or2n1 A G 17: 38,486,013 (GRCm39) I13V probably benign Het
Or56a42-ps1 A T 7: 104,776,217 (GRCm39) V97E probably benign Het
Or5p67 G A 7: 107,922,460 (GRCm39) T141I probably benign Het
Or6c66b A T 10: 129,377,132 (GRCm39) H242L probably damaging Het
Pate2 T C 9: 35,596,941 (GRCm39) probably benign Het
Pcdhgb8 G A 18: 37,896,580 (GRCm39) R550Q probably benign Het
Phldb3 T C 7: 24,323,577 (GRCm39) L437P possibly damaging Het
Pianp C A 6: 124,978,565 (GRCm39) P257T possibly damaging Het
Rbbp6 T A 7: 122,584,287 (GRCm39) H140Q possibly damaging Het
Rfx2 A G 17: 57,087,804 (GRCm39) I529T probably damaging Het
Rnf113a1 A C X: 36,455,840 (GRCm39) T266P probably benign Het
Rp1l1 T C 14: 64,268,599 (GRCm39) I1395T possibly damaging Het
Rps6ka2 A C 17: 7,519,035 (GRCm39) K186Q probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Rtel1 C A 2: 180,964,256 (GRCm39) T85N probably benign Het
Rtn4rl2 T C 2: 84,710,967 (GRCm39) N99S probably damaging Het
Ryr1 C T 7: 28,723,741 (GRCm39) G4106D possibly damaging Het
Scgb2b24 A G 7: 33,437,894 (GRCm39) V71A probably benign Het
Sgip1 A G 4: 102,778,225 (GRCm39) probably benign Het
Slc12a4 G A 8: 106,676,371 (GRCm39) T515I probably damaging Het
Spag1 C T 15: 36,197,895 (GRCm39) R286* probably null Het
Strbp C T 2: 37,515,228 (GRCm39) R266Q probably damaging Het
Strn G T 17: 78,977,787 (GRCm39) probably benign Het
Thnsl2 C A 6: 71,118,264 (GRCm39) V55L probably benign Het
Tmem178b A T 6: 40,231,858 (GRCm39) Q164L unknown Het
Tmprss6 C T 15: 78,324,457 (GRCm39) R786H probably damaging Het
Ttc21a T A 9: 119,770,268 (GRCm39) L113Q possibly damaging Het
Ttc21b T C 2: 66,038,994 (GRCm39) probably null Het
Vmn2r51 T C 7: 9,832,191 (GRCm39) D465G probably damaging Het
Vmp1 A C 11: 86,556,913 (GRCm39) probably null Het
Wdcp T C 12: 4,901,358 (GRCm39) F405L probably damaging Het
Zfhx3 A T 8: 109,676,149 (GRCm39) T2400S probably benign Het
Zfp27 T C 7: 29,593,860 (GRCm39) T702A probably benign Het
Zfp87 T C 13: 74,520,080 (GRCm39) S333G 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
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
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'- ACCAACCAAGCATAGCTGTG -3'
(R):5'- GAGATGCCTTCTCCACACAC -3'

Sequencing Primer
(F):5'- CTGTGAAATGATGGTCCAGCAC -3'
(R):5'- CACGAACCCGAAGTAGCCTCTC -3'
Posted On 2018-09-12