Incidental Mutation 'IGL02939:9330182L06Rik'
ID365956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9330182L06Rik
Ensembl Gene ENSMUSG00000056004
Gene NameRIKEN cDNA 9330182L06 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02939
Quality Score
Status
Chromosome5
Chromosomal Location9266118-9481825 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9461478 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 947 (Y947H)
Ref Sequence ENSEMBL: ENSMUSP00000121757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069538] [ENSMUST00000115348] [ENSMUST00000134991] [ENSMUST00000152095] [ENSMUST00000154662] [ENSMUST00000155764]
Predicted Effect probably damaging
Transcript: ENSMUST00000069538
AA Change: Y947H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: Y947H

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
internal_repeat_1 58 334 1.12e-7 PROSPERO
internal_repeat_1 343 665 1.12e-7 PROSPERO
transmembrane domain 926 948 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115348
SMART Domains Protein: ENSMUSP00000111005
Gene: ENSMUSG00000056004

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
low complexity region 213 224 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000134991
AA Change: Y947H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: Y947H

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
internal_repeat_1 58 334 9.82e-8 PROSPERO
internal_repeat_1 343 665 9.82e-8 PROSPERO
transmembrane domain 926 948 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152095
SMART Domains Protein: ENSMUSP00000116440
Gene: ENSMUSG00000056004

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154662
SMART Domains Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155764
SMART Domains Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
internal_repeat_1 58 180 5.47e-6 PROSPERO
internal_repeat_1 343 476 5.47e-6 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6ap1 A G X: 74,297,318 D47G probably benign Het
Atr T C 9: 95,865,261 F199L probably benign Het
Bivm C A 1: 44,142,960 H443N probably benign Het
Btnl2 A T 17: 34,361,069 H192L probably benign Het
Ccdc178 A T 18: 22,120,718 C155S probably benign Het
Celsr1 C A 15: 85,901,472 V2934L probably benign Het
Celsr3 T C 9: 108,849,453 S3294P probably damaging Het
Ddx10 T A 9: 53,204,279 E585V possibly damaging Het
Eps15l1 A T 8: 72,384,762 probably benign Het
Erlin1 G T 19: 44,063,052 T70K probably damaging Het
Ext2 A T 2: 93,704,619 probably null Het
Fam124a G A 14: 62,555,919 probably null Het
Fam53a T C 5: 33,607,759 D201G probably damaging Het
Fgf14 C T 14: 124,132,479 G136D possibly damaging Het
Gdi2 A T 13: 3,564,623 T323S probably benign Het
Gemin5 A T 11: 58,156,730 N339K probably damaging Het
Golga4 A G 9: 118,535,454 E286G probably benign Het
Golga4 A C 9: 118,534,632 K233T probably damaging Het
Gosr1 A G 11: 76,750,906 probably benign Het
Haus8 A G 8: 71,255,717 probably benign Het
Itgb3bp T C 4: 99,802,136 T49A probably null Het
Ldlrad4 A G 18: 68,254,514 D299G probably damaging Het
Lpo A G 11: 87,815,178 M273T possibly damaging Het
Map3k4 T A 17: 12,272,149 S132C probably damaging Het
Mycbp2 T G 14: 103,177,279 T2566P probably benign Het
Nalcn T C 14: 123,298,872 E1255G probably null Het
Nop56 A T 2: 130,278,197 K157N probably damaging Het
Olfr802 A T 10: 129,681,988 Y250* probably null Het
Olfr979 C T 9: 40,000,898 E110K probably benign Het
Pcdh15 A G 10: 74,504,816 probably benign Het
Pi4ka T C 16: 17,354,210 H557R probably damaging Het
Plekha4 C T 7: 45,532,363 Q64* probably null Het
Ppp2r3c G A 12: 55,298,407 probably benign Het
Rgmb C T 17: 15,807,493 M321I probably benign Het
Rnf31 T C 14: 55,595,674 S363P probably benign Het
Sap18b T A 8: 95,825,701 M113K probably benign Het
Scara3 T A 14: 65,931,656 M171L probably benign Het
Slc9a2 T G 1: 40,742,703 M364R probably damaging Het
Sorcs1 C T 19: 50,677,930 W180* probably null Het
Stat6 T A 10: 127,646,940 M10K probably benign Het
Sun1 T C 5: 139,235,488 probably benign Het
Tead2 T C 7: 45,220,434 probably benign Het
Tjp1 T G 7: 65,314,890 E844D probably damaging Het
Tmtc2 A G 10: 105,370,550 S295P probably damaging Het
Ttn G A 2: 76,782,412 R17108C probably damaging Het
Ubr1 T C 2: 120,881,183 probably null Het
Vmn2r108 T A 17: 20,471,283 H326L probably benign Het
Xdh A G 17: 73,943,845 probably null Het
Zfp385b A G 2: 77,412,059 S439P probably benign Het
Zfp597 G A 16: 3,865,941 S317L probably benign Het
Zfp638 A G 6: 83,969,232 D1081G probably damaging Het
Zfp93 C T 7: 24,275,084 H165Y possibly damaging Het
Other mutations in 9330182L06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:9330182L06Rik APN 5 9422367 missense probably damaging 0.99
IGL00909:9330182L06Rik APN 5 9380282 missense probably damaging 1.00
IGL01477:9330182L06Rik APN 5 9437756 missense probably damaging 1.00
IGL02486:9330182L06Rik APN 5 9422323 missense probably benign 0.00
IGL02863:9330182L06Rik APN 5 9461399 nonsense probably null
IGL03039:9330182L06Rik APN 5 9418055 missense probably benign 0.12
IGL03395:9330182L06Rik APN 5 9422359 missense probably damaging 0.97
R0063:9330182L06Rik UTSW 5 9440709 intron probably benign
R0063:9330182L06Rik UTSW 5 9440709 intron probably benign
R0193:9330182L06Rik UTSW 5 9422359 missense probably damaging 0.97
R0265:9330182L06Rik UTSW 5 9434681 missense probably damaging 1.00
R0398:9330182L06Rik UTSW 5 9445367 missense probably benign 0.00
R0432:9330182L06Rik UTSW 5 9440966 nonsense probably null
R0494:9330182L06Rik UTSW 5 9420723 critical splice donor site probably null
R0736:9330182L06Rik UTSW 5 9441745 missense probably damaging 1.00
R0850:9330182L06Rik UTSW 5 9417993 missense probably damaging 1.00
R1398:9330182L06Rik UTSW 5 9380297 missense probably damaging 1.00
R1709:9330182L06Rik UTSW 5 9440726 nonsense probably null
R1720:9330182L06Rik UTSW 5 9428407 missense probably damaging 1.00
R1770:9330182L06Rik UTSW 5 9418021 missense probably benign 0.01
R1782:9330182L06Rik UTSW 5 9421620 missense possibly damaging 0.62
R1803:9330182L06Rik UTSW 5 9427832 missense probably benign 0.05
R1868:9330182L06Rik UTSW 5 9479251 missense probably damaging 1.00
R1870:9330182L06Rik UTSW 5 9418007 missense probably damaging 0.97
R1871:9330182L06Rik UTSW 5 9418007 missense probably damaging 0.97
R1913:9330182L06Rik UTSW 5 9266275 missense probably damaging 0.97
R2054:9330182L06Rik UTSW 5 9463030 missense possibly damaging 0.81
R2170:9330182L06Rik UTSW 5 9479206 missense probably damaging 1.00
R2381:9330182L06Rik UTSW 5 9380342 missense probably damaging 1.00
R2396:9330182L06Rik UTSW 5 9435395 missense possibly damaging 0.92
R4003:9330182L06Rik UTSW 5 9440877 missense probably benign 0.05
R5030:9330182L06Rik UTSW 5 9428502 missense probably damaging 1.00
R5049:9330182L06Rik UTSW 5 9428488 missense probably damaging 1.00
R5069:9330182L06Rik UTSW 5 9440897 missense probably damaging 1.00
R5219:9330182L06Rik UTSW 5 9461486 missense probably damaging 1.00
R5400:9330182L06Rik UTSW 5 9479247 missense probably damaging 1.00
R5555:9330182L06Rik UTSW 5 9422296 splice site probably null
R5593:9330182L06Rik UTSW 5 9266350 missense probably benign 0.07
R5681:9330182L06Rik UTSW 5 9459308 critical splice donor site probably null
R5707:9330182L06Rik UTSW 5 9441698 missense probably damaging 1.00
R5756:9330182L06Rik UTSW 5 9462995 missense probably damaging 0.98
R6087:9330182L06Rik UTSW 5 9399255 missense probably damaging 1.00
R6252:9330182L06Rik UTSW 5 9410693 missense probably damaging 1.00
R7067:9330182L06Rik UTSW 5 9266295 missense possibly damaging 0.81
R7078:9330182L06Rik UTSW 5 9410709 missense probably benign 0.10
R7079:9330182L06Rik UTSW 5 9399253 missense probably damaging 1.00
R7117:9330182L06Rik UTSW 5 9445384 nonsense probably null
R7265:9330182L06Rik UTSW 5 9446975 missense possibly damaging 0.65
X0019:9330182L06Rik UTSW 5 9399231 missense probably damaging 0.97
X0052:9330182L06Rik UTSW 5 9440908 missense possibly damaging 0.87
X0063:9330182L06Rik UTSW 5 9399239 nonsense probably null
Posted On2015-12-18