Incidental Mutation 'IGL02268:Ecrg4'
ID 286976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ecrg4
Ensembl Gene ENSMUSG00000026051
Gene Name ECRG4 augurin precursor
Synonyms 1500015O10Rik, augurin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02268
Quality Score
Status
Chromosome 1
Chromosomal Location 43769762-43781724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43770111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 23 (C23S)
Ref Sequence ENSEMBL: ENSMUSP00000027217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027217]
AlphaFold Q99LS0
Predicted Effect probably damaging
Transcript: ENSMUST00000027217
AA Change: C23S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027217
Gene: ENSMUSG00000026051
AA Change: C23S

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Augurin 32 148 2.9e-56 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: No notable pheontype was detected in high throughput screens of homozygous mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik C T 10: 28,862,242 (GRCm39) C16Y probably benign Het
Abca13 C T 11: 9,240,626 (GRCm39) L830F probably benign Het
Apcdd1 T C 18: 63,083,259 (GRCm39) V363A probably damaging Het
Atosb T A 4: 43,036,468 (GRCm39) R88* probably null Het
Cachd1 A G 4: 100,809,294 (GRCm39) I260V possibly damaging Het
Cass4 T A 2: 172,268,962 (GRCm39) M350K possibly damaging Het
Ccnjl A G 11: 43,470,615 (GRCm39) T128A probably benign Het
Cd6 C T 19: 10,773,752 (GRCm39) G361D probably benign Het
Cdh22 T C 2: 164,965,639 (GRCm39) probably benign Het
Ces2h T A 8: 105,746,572 (GRCm39) F475Y probably benign Het
Col15a1 A T 4: 47,245,380 (GRCm39) T44S probably damaging Het
Cplx3 C T 9: 57,509,741 (GRCm39) E86K possibly damaging Het
Crbn A G 6: 106,772,004 (GRCm39) V100A possibly damaging Het
D430041D05Rik C A 2: 104,071,500 (GRCm39) V1267L possibly damaging Het
Elapor1 C A 3: 108,375,113 (GRCm39) A585S probably benign Het
F930017D23Rik A G 10: 43,480,405 (GRCm39) noncoding transcript Het
Fastkd3 A G 13: 68,731,796 (GRCm39) D39G probably damaging Het
Golgb1 T A 16: 36,733,490 (GRCm39) S912R probably benign Het
H2-T24 T C 17: 36,328,264 (GRCm39) Y73C probably damaging Het
Ifna9 A T 4: 88,510,591 (GRCm39) L11* probably null Het
Igsf10 A T 3: 59,238,573 (GRCm39) L536* probably null Het
Itprid1 A T 6: 55,861,673 (GRCm39) probably benign Het
Kcnma1 A T 14: 23,593,144 (GRCm39) I215K probably damaging Het
Kdm4c A C 4: 74,291,953 (GRCm39) I857L possibly damaging Het
Kptn A T 7: 15,857,786 (GRCm39) H229L probably benign Het
Krt32 A T 11: 99,978,967 (GRCm39) M29K probably benign Het
Lama2 A G 10: 26,877,112 (GRCm39) probably benign Het
Lpcat2b A C 5: 107,581,982 (GRCm39) D437A probably damaging Het
Lrrc8c T C 5: 105,755,764 (GRCm39) L513P probably damaging Het
Mon1a T C 9: 107,778,997 (GRCm39) V407A possibly damaging Het
Myo5c C T 9: 75,153,519 (GRCm39) P135L probably damaging Het
Myof C T 19: 37,942,877 (GRCm39) V218M possibly damaging Het
Myof T A 19: 37,963,311 (GRCm39) I429F possibly damaging Het
Nbas A G 12: 13,455,398 (GRCm39) D1204G possibly damaging Het
Nckap1 G A 2: 80,358,962 (GRCm39) P560S probably benign Het
Notch2 G A 3: 98,044,713 (GRCm39) G1545D probably damaging Het
Ntrk1 G A 3: 87,688,838 (GRCm39) H572Y probably damaging Het
Or2t44 T C 11: 58,677,551 (GRCm39) F164L probably benign Het
Or7e177 T C 9: 20,211,588 (GRCm39) S31P probably damaging Het
Pate8 T C 9: 36,493,166 (GRCm39) Y52C possibly damaging Het
Pcdh15 A T 10: 74,178,504 (GRCm39) D587V probably damaging Het
Pik3cb T C 9: 98,928,609 (GRCm39) Y882C probably benign Het
Plch1 T A 3: 63,606,704 (GRCm39) *1074C probably null Het
Plcxd1 T C 5: 110,248,140 (GRCm39) probably benign Het
Ppp2r2d A G 7: 138,474,700 (GRCm39) N27S probably null Het
Prkar2a A G 9: 108,624,152 (GRCm39) M390V probably benign Het
Rab3gap1 A G 1: 127,796,695 (GRCm39) T18A probably damaging Het
Ranbp2 T C 10: 58,329,475 (GRCm39) probably benign Het
Rasl12 T C 9: 65,305,946 (GRCm39) S34P probably damaging Het
Rpusd3 A T 6: 113,395,818 (GRCm39) L65Q possibly damaging Het
Rtf2 A G 2: 172,310,639 (GRCm39) K290R probably damaging Het
Rwdd4a T A 8: 48,003,731 (GRCm39) L179* probably null Het
Scgb1b24 A G 7: 33,444,388 (GRCm39) E87G possibly damaging Het
Sgo2a A G 1: 58,056,881 (GRCm39) I1022V probably benign Het
Smg1 A C 7: 117,781,764 (GRCm39) I1174M probably benign Het
Spata17 A T 1: 186,872,595 (GRCm39) M72K probably damaging Het
Synpo2 G A 3: 122,910,632 (GRCm39) P338S probably damaging Het
Tpi1 G A 6: 124,791,087 (GRCm39) T50I probably benign Het
Trpm1 A G 7: 63,867,362 (GRCm39) E354G probably damaging Het
Uba2 A G 7: 33,842,161 (GRCm39) probably null Het
Wnk1 G A 6: 119,914,334 (GRCm39) R1823* probably null Het
Zfp248 A C 6: 118,430,801 (GRCm39) probably benign Het
Zfp51 A T 17: 21,683,681 (GRCm39) K99* probably null Het
Other mutations in Ecrg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0543:Ecrg4 UTSW 1 43,781,449 (GRCm39) missense possibly damaging 0.95
R2149:Ecrg4 UTSW 1 43,781,496 (GRCm39) missense probably damaging 1.00
R4621:Ecrg4 UTSW 1 43,776,412 (GRCm39) splice site probably null
R4622:Ecrg4 UTSW 1 43,781,481 (GRCm39) missense possibly damaging 0.79
R5940:Ecrg4 UTSW 1 43,776,401 (GRCm39) nonsense probably null
R6648:Ecrg4 UTSW 1 43,777,851 (GRCm39) missense probably damaging 1.00
R6776:Ecrg4 UTSW 1 43,781,551 (GRCm39) missense probably damaging 1.00
RF007:Ecrg4 UTSW 1 43,776,352 (GRCm39) critical splice acceptor site probably benign
RF045:Ecrg4 UTSW 1 43,776,352 (GRCm39) critical splice acceptor site probably benign
Posted On 2015-04-16