Incidental Mutation 'IGL00392:9130011E15Rik'
ID5654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9130011E15Rik
Ensembl Gene ENSMUSG00000039901
Gene NameRIKEN cDNA 9130011E15 gene
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00392
Quality Score
Status
Chromosome19
Chromosomal Location45818144-45998488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 45940488 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 389 (H389P)
Ref Sequence ENSEMBL: ENSMUSP00000048454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045396]
Predicted Effect probably benign
Transcript: ENSMUST00000045396
AA Change: H389P

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: H389P

DomainStartEndE-ValueType
low complexity region 155 167 N/A INTRINSIC
low complexity region 327 348 N/A INTRINSIC
DUF1741 435 671 5.65e-139 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 T C 7: 81,078,009 Y296H possibly damaging Het
Brca2 A G 5: 150,541,240 T1490A probably benign Het
Btaf1 A T 19: 37,009,702 D1732V probably damaging Het
Capzb T C 4: 139,288,947 I273T probably benign Het
Carmil1 G A 13: 24,094,491 T165I probably damaging Het
Cc2d2a A G 5: 43,724,380 probably benign Het
Ccdc173 T C 2: 69,771,984 H361R probably benign Het
Cdh22 A G 2: 165,112,601 Y667H possibly damaging Het
Celsr1 T A 15: 85,931,345 Q1823L probably benign Het
Cntrl T C 2: 35,137,814 probably benign Het
Dhx15 A T 5: 52,157,582 probably benign Het
Dip2c A T 13: 9,493,108 D30V probably damaging Het
Dyrk2 T C 10: 118,859,844 D503G probably damaging Het
Enpp1 T A 10: 24,645,427 I801F possibly damaging Het
Fnbp4 A C 2: 90,751,622 probably benign Het
Klk1b5 T A 7: 44,216,504 W2R probably benign Het
Lama2 T C 10: 27,188,265 K1240R probably benign Het
Matn2 A G 15: 34,402,856 N409S probably benign Het
Mep1b A T 18: 21,084,186 K121* probably null Het
Mettl26 T C 17: 25,876,124 probably null Het
Myh7 T C 14: 54,987,388 E574G probably damaging Het
Nfkbie G A 17: 45,560,213 probably null Het
Nlrc4 T C 17: 74,446,534 R285G probably benign Het
Pax8 T C 2: 24,443,132 Y66C probably damaging Het
Plxna2 A G 1: 194,800,568 D1523G probably damaging Het
Pou2f1 A G 1: 165,896,590 probably benign Het
Prom1 A G 5: 44,007,021 probably null Het
Ptk6 T C 2: 181,195,818 D436G probably benign Het
Robo4 T A 9: 37,408,229 F592I probably damaging Het
Sec24c C A 14: 20,693,203 S964R probably benign Het
Sgcb G T 5: 73,635,678 N260K possibly damaging Het
Smarcd2 T C 11: 106,265,904 D221G probably damaging Het
Unc13b C T 4: 43,240,285 R3569W probably damaging Het
Zfpl1 C A 19: 6,081,107 R285L possibly damaging Het
Other mutations in 9130011E15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:9130011E15Rik APN 19 45932350 critical splice donor site probably null
IGL01356:9130011E15Rik APN 19 45966303 missense possibly damaging 0.94
IGL01477:9130011E15Rik APN 19 45978604 missense probably damaging 0.99
IGL01660:9130011E15Rik APN 19 45940476 missense probably damaging 1.00
IGL02193:9130011E15Rik APN 19 45972884 missense probably benign 0.02
IGL02863:9130011E15Rik APN 19 45958411 missense probably damaging 1.00
IGL03108:9130011E15Rik APN 19 45820353 missense probably damaging 0.99
R0035:9130011E15Rik UTSW 19 45891240 missense probably damaging 1.00
R0791:9130011E15Rik UTSW 19 45933868 splice site probably null
R0792:9130011E15Rik UTSW 19 45933868 splice site probably null
R1487:9130011E15Rik UTSW 19 45940443 critical splice donor site probably null
R1843:9130011E15Rik UTSW 19 45975252 missense probably benign 0.17
R2061:9130011E15Rik UTSW 19 45978667 missense probably damaging 1.00
R2070:9130011E15Rik UTSW 19 45891285 missense probably damaging 1.00
R2072:9130011E15Rik UTSW 19 45965381 missense probably damaging 0.99
R2073:9130011E15Rik UTSW 19 45965381 missense probably damaging 0.99
R2074:9130011E15Rik UTSW 19 45965381 missense probably damaging 0.99
R2091:9130011E15Rik UTSW 19 45952680 missense probably damaging 1.00
R2263:9130011E15Rik UTSW 19 45932349 critical splice donor site probably null
R2863:9130011E15Rik UTSW 19 45885957 missense probably damaging 1.00
R3236:9130011E15Rik UTSW 19 45975283 splice site probably benign
R3796:9130011E15Rik UTSW 19 45921610 splice site probably benign
R4044:9130011E15Rik UTSW 19 45820324 missense probably damaging 1.00
R4716:9130011E15Rik UTSW 19 45960342 missense probably damaging 1.00
R4974:9130011E15Rik UTSW 19 45820287 missense probably damaging 1.00
R4983:9130011E15Rik UTSW 19 45950707 missense probably benign
R5063:9130011E15Rik UTSW 19 45885955 missense possibly damaging 0.95
R5313:9130011E15Rik UTSW 19 45818975 missense probably damaging 1.00
R5782:9130011E15Rik UTSW 19 45886027 missense probably benign 0.08
R5985:9130011E15Rik UTSW 19 45820324 missense probably damaging 1.00
R6220:9130011E15Rik UTSW 19 45846115 missense possibly damaging 0.79
R6379:9130011E15Rik UTSW 19 45921697 missense possibly damaging 0.46
R6674:9130011E15Rik UTSW 19 45974998 missense probably benign 0.06
R6842:9130011E15Rik UTSW 19 45818977 missense probably benign 0.05
R6890:9130011E15Rik UTSW 19 45960357 missense probably damaging 1.00
R7034:9130011E15Rik UTSW 19 45965249 missense probably damaging 0.98
R7036:9130011E15Rik UTSW 19 45965249 missense probably damaging 0.98
R7305:9130011E15Rik UTSW 19 45892121 missense probably benign 0.35
R7411:9130011E15Rik UTSW 19 45965435 missense probably benign 0.00
X0060:9130011E15Rik UTSW 19 45932393 missense possibly damaging 0.95
Z1088:9130011E15Rik UTSW 19 45818905 missense probably damaging 1.00
Posted On2012-04-20