Incidental Mutation 'IGL01477:9130011E15Rik'
ID 88485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9130011E15Rik
Ensembl Gene ENSMUSG00000039901
Gene Name RIKEN cDNA 9130011E15 gene
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01477
Quality Score
Status
Chromosome 19
Chromosomal Location 45818144-45998488 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45978604 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 33 (F33S)
Ref Sequence ENSEMBL: ENSMUSP00000048454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045396]
AlphaFold Q6PD19
Predicted Effect probably damaging
Transcript: ENSMUST00000045396
AA Change: F33S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: F33S

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A T 5: 9,437,756 K547N probably damaging Het
Aven T C 2: 112,629,932 S132P probably benign Het
Cadps2 G A 6: 23,263,673 T1233M probably damaging Het
Cdh16 T C 8: 104,618,508 E383G probably damaging Het
Cxxc1 A G 18: 74,219,914 K432E possibly damaging Het
Eprs G T 1: 185,411,375 probably benign Het
Etv4 T C 11: 101,777,128 D74G possibly damaging Het
Glb1l A T 1: 75,208,706 I120N probably damaging Het
Grpel1 G A 5: 36,470,642 R89Q probably damaging Het
Ifi44 C T 3: 151,745,998 probably benign Het
Ikzf3 T C 11: 98,488,857 H195R probably damaging Het
Mug2 A G 6: 122,081,684 probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr895 T A 9: 38,269,319 S269T possibly damaging Het
Pcnx A T 12: 81,973,241 K1346I probably damaging Het
Pcnx2 C T 8: 125,785,305 V1421I probably damaging Het
Pnpla8 A G 12: 44,283,658 D331G probably damaging Het
Ppp1r3a A T 6: 14,718,346 N856K probably damaging Het
Ptk7 T C 17: 46,576,880 D542G possibly damaging Het
Slc4a2 A G 5: 24,430,156 probably benign Het
Smarce1 C T 11: 99,210,187 G373E possibly damaging Het
Speg A G 1: 75,391,897 N697S probably damaging Het
Supt5 T C 7: 28,317,264 H731R possibly damaging Het
Tmod2 T C 9: 75,595,001 H68R probably benign Het
Vmn2r68 A C 7: 85,233,483 C354G probably damaging Het
Zfp277 A T 12: 40,320,676 Y425N probably benign Het
Other mutations in 9130011E15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:9130011E15Rik APN 19 45940488 missense probably benign 0.19
IGL00788:9130011E15Rik APN 19 45932350 critical splice donor site probably null
IGL01356:9130011E15Rik APN 19 45966303 missense possibly damaging 0.94
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
R7762:9130011E15Rik UTSW 19 45940443 critical splice donor site probably null
R8021:9130011E15Rik UTSW 19 45956741 critical splice acceptor site probably null
R8366:9130011E15Rik UTSW 19 45932354 missense probably damaging 1.00
R9336:9130011E15Rik UTSW 19 45956681 missense probably damaging 1.00
X0060:9130011E15Rik UTSW 19 45932393 missense possibly damaging 0.95
Z1088:9130011E15Rik UTSW 19 45818905 missense probably damaging 1.00
Posted On 2013-11-18