Incidental Mutation 'IGL03386:Erich3'
ID420865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erich3
Ensembl Gene ENSMUSG00000078161
Gene Nameglutamate rich 3
Synonyms4922501L14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL03386
Quality Score
Status
Chromosome3
Chromosomal Location154663859-154767790 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 154739239 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 548 (E548K)
Ref Sequence ENSEMBL: ENSMUSP00000096097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051862] [ENSMUST00000098496]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051862
AA Change: E351K

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062837
Gene: ENSMUSG00000078161
AA Change: E351K

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 possibly damaging
Transcript: ENSMUST00000098496
AA Change: E548K

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: E548K

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI481877 T C 4: 59,069,315 K704E possibly damaging Het
Arid2 T C 15: 96,361,574 F236L probably damaging Het
AU018091 T C 7: 3,161,267 Y274C probably damaging Het
BC024139 A G 15: 76,121,745 F419L probably benign Het
Cd300ld T G 11: 114,984,172 D212A probably benign Het
Ces1g T C 8: 93,325,812 H283R probably benign Het
Chac2 T A 11: 30,977,720 K66N probably benign Het
Emc1 T C 4: 139,363,781 probably null Het
Eml6 G A 11: 29,749,934 A1734V probably benign Het
Gm3604 T A 13: 62,370,167 E105D possibly damaging Het
Gpr158 A G 2: 21,826,246 K719R probably damaging Het
Heatr6 T C 11: 83,759,377 S220P probably damaging Het
Kcnip4 T C 5: 48,482,547 Y74C probably damaging Het
Kmt2b T C 7: 30,573,971 H2380R possibly damaging Het
Lars2 A T 9: 123,453,390 K680* probably null Het
Macc1 T A 12: 119,445,863 M122K probably benign Het
Pbrm1 A G 14: 31,050,092 D381G probably damaging Het
Phf11d A G 14: 59,361,860 probably benign Het
Qrsl1 A G 10: 43,876,550 Y426H possibly damaging Het
Riok1 T A 13: 38,057,237 L456* probably null Het
Rps6kc1 A G 1: 190,799,570 L745P probably damaging Het
Sh3tc2 A T 18: 61,973,311 H137L probably benign Het
Shroom3 T A 5: 92,948,483 probably benign Het
Stac2 T A 11: 98,041,140 Q103L possibly damaging Het
Thnsl1 G A 2: 21,211,548 A38T probably benign Het
Traf3ip2 A G 10: 39,645,708 I421V probably benign Het
Vmn2r14 T C 5: 109,220,484 D214G possibly damaging Het
Other mutations in Erich3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Erich3 APN 3 154748519 missense probably benign 0.44
IGL01141:Erich3 APN 3 154714016 missense probably benign 0.08
IGL01812:Erich3 APN 3 154713971 missense possibly damaging 0.70
IGL02126:Erich3 APN 3 154713962 missense possibly damaging 0.60
IGL03371:Erich3 APN 3 154727477 missense probably damaging 0.97
FR4449:Erich3 UTSW 3 154763513 unclassified probably benign
R0942:Erich3 UTSW 3 154739151 missense probably benign 0.00
R1558:Erich3 UTSW 3 154714068 missense probably damaging 0.99
R1582:Erich3 UTSW 3 154764323 unclassified probably benign
R1674:Erich3 UTSW 3 154762623 unclassified probably benign
R1676:Erich3 UTSW 3 154762623 unclassified probably benign
R1724:Erich3 UTSW 3 154762327 missense possibly damaging 0.89
R1757:Erich3 UTSW 3 154695765 missense probably damaging 0.98
R1771:Erich3 UTSW 3 154748472 missense possibly damaging 0.82
R2384:Erich3 UTSW 3 154764651 missense possibly damaging 0.92
R2410:Erich3 UTSW 3 154733603 missense probably damaging 0.98
R2507:Erich3 UTSW 3 154698659 missense probably null 1.00
R3621:Erich3 UTSW 3 154748732 missense possibly damaging 0.83
R3755:Erich3 UTSW 3 154764321 unclassified probably benign
R3756:Erich3 UTSW 3 154764321 unclassified probably benign
R3756:Erich3 UTSW 3 154764578 missense possibly damaging 0.66
R3832:Erich3 UTSW 3 154762361 missense probably damaging 0.97
R4020:Erich3 UTSW 3 154714049 missense probably damaging 0.97
R4601:Erich3 UTSW 3 154764738 missense unknown
R4628:Erich3 UTSW 3 154763687 missense probably damaging 1.00
R4841:Erich3 UTSW 3 154704843 missense possibly damaging 0.87
R4842:Erich3 UTSW 3 154704843 missense possibly damaging 0.87
R4863:Erich3 UTSW 3 154764804 missense unknown
R4989:Erich3 UTSW 3 154748388 missense possibly damaging 0.85
R5310:Erich3 UTSW 3 154763580 missense probably damaging 1.00
R5596:Erich3 UTSW 3 154727396 missense probably damaging 0.99
R5695:Erich3 UTSW 3 154733573 missense probably damaging 1.00
R5742:Erich3 UTSW 3 154733323 missense probably damaging 1.00
R5859:Erich3 UTSW 3 154762497 missense possibly damaging 0.90
R5916:Erich3 UTSW 3 154695823 missense probably damaging 1.00
R6172:Erich3 UTSW 3 154764341 missense possibly damaging 0.66
R6321:Erich3 UTSW 3 154727502 missense probably damaging 1.00
R6438:Erich3 UTSW 3 154695753 missense probably damaging 1.00
R6520:Erich3 UTSW 3 154763465 missense probably damaging 0.98
R6679:Erich3 UTSW 3 154762429 missense possibly damaging 0.81
R6697:Erich3 UTSW 3 154764270 unclassified probably benign
R6800:Erich3 UTSW 3 154727392 critical splice acceptor site probably null
R6823:Erich3 UTSW 3 154727437 missense probably damaging 1.00
R6855:Erich3 UTSW 3 154762649 nonsense probably null
R6989:Erich3 UTSW 3 154763677 unclassified probably benign
Posted On2016-08-02