Incidental Mutation 'IGL02407:4931406P16Rik'
ID292142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4931406P16Rik
Ensembl Gene ENSMUSG00000066571
Gene NameRIKEN cDNA 4931406P16 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02407
Quality Score
Status
Chromosome7
Chromosomal Location34236707-34313551 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34256484 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 393 (N393K)
Ref Sequence ENSEMBL: ENSMUSP00000103709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085592] [ENSMUST00000105172] [ENSMUST00000108074] [ENSMUST00000206399]
Predicted Effect probably damaging
Transcript: ENSMUST00000085592
AA Change: N393K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: N393K

DomainStartEndE-ValueType
low complexity region 40 57 N/A INTRINSIC
Pfam:DUF4745 59 187 1.3e-57 PFAM
low complexity region 319 332 N/A INTRINSIC
low complexity region 592 602 N/A INTRINSIC
low complexity region 677 696 N/A INTRINSIC
low complexity region 699 729 N/A INTRINSIC
low complexity region 771 786 N/A INTRINSIC
low complexity region 856 868 N/A INTRINSIC
low complexity region 890 913 N/A INTRINSIC
low complexity region 940 951 N/A INTRINSIC
low complexity region 1026 1049 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105172
SMART Domains Protein: ENSMUSP00000100805
Gene: ENSMUSG00000078380

DomainStartEndE-ValueType
Pfam:Ribosomal_L23eN 13 62 1.1e-20 PFAM
Pfam:Ribosomal_L23 70 142 6.2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108074
AA Change: N393K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: N393K

DomainStartEndE-ValueType
low complexity region 40 57 N/A INTRINSIC
low complexity region 319 332 N/A INTRINSIC
low complexity region 592 602 N/A INTRINSIC
low complexity region 677 696 N/A INTRINSIC
low complexity region 699 729 N/A INTRINSIC
low complexity region 771 786 N/A INTRINSIC
low complexity region 856 868 N/A INTRINSIC
low complexity region 890 913 N/A INTRINSIC
low complexity region 940 951 N/A INTRINSIC
low complexity region 1026 1049 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205581
Predicted Effect unknown
Transcript: ENSMUST00000206399
AA Change: N181K
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,668,616 W1040* probably null Het
Adgrv1 C A 13: 81,479,670 A3691S probably damaging Het
Als2cl T A 9: 110,889,227 Y345* probably null Het
Aplp2 A T 9: 31,158,527 Y496* probably null Het
Ash1l T C 3: 89,072,548 V2793A probably damaging Het
Bfsp1 A T 2: 143,826,933 D575E probably benign Het
Ceacam20 G T 7: 19,970,407 V128F probably benign Het
Cers4 A T 8: 4,520,306 K204* probably null Het
Cog1 T C 11: 113,654,026 Y345H probably benign Het
Col14a1 T C 15: 55,448,876 probably benign Het
Col19a1 A T 1: 24,312,372 probably null Het
Ctnnd2 T A 15: 30,966,768 M955K probably damaging Het
Cyp3a16 A T 5: 145,451,842 M275K probably damaging Het
Degs2 T G 12: 108,691,995 T242P probably damaging Het
Elac2 T C 11: 64,999,175 V612A probably benign Het
Elovl6 T A 3: 129,605,084 F45I probably damaging Het
Exoc1 A C 5: 76,545,346 N360H probably damaging Het
Fam221b A T 4: 43,666,309 S101T possibly damaging Het
Glyr1 A G 16: 5,036,948 F89L probably benign Het
Herc4 C A 10: 63,306,424 T668K probably damaging Het
Hibadh C T 6: 52,548,889 V259I possibly damaging Het
Hp1bp3 T A 4: 138,240,672 D397E probably damaging Het
Ift80 G T 3: 68,898,536 D724E probably benign Het
Igkv3-10 T C 6: 70,573,239 probably benign Het
Irf9 G T 14: 55,605,221 A75S possibly damaging Het
Kif13a C T 13: 46,785,293 V76M probably damaging Het
Krt4 T C 15: 101,921,305 I263V probably benign Het
Lgals8 A G 13: 12,454,818 W87R probably benign Het
Mccc2 G A 13: 99,991,308 P96L probably damaging Het
Megf11 A C 9: 64,680,249 D443A probably damaging Het
Nckap5l T C 15: 99,423,127 probably benign Het
Ndor1 A G 2: 25,249,269 V230A probably benign Het
Nif3l1 G T 1: 58,457,797 V294L possibly damaging Het
Olfr1285 T A 2: 111,408,578 noncoding transcript Het
Pcdhb13 T A 18: 37,443,075 Y169N probably damaging Het
Peg3 A G 7: 6,707,636 I1529T probably damaging Het
Piezo2 T A 18: 63,146,844 I219F probably damaging Het
Prpf38a G A 4: 108,567,639 R242W unknown Het
Prrc2a A T 17: 35,160,504 D255E unknown Het
Rapgef6 G T 11: 54,676,355 D1121Y possibly damaging Het
Ryr3 T A 2: 112,754,958 H2761L probably damaging Het
Sel1l A T 12: 91,843,268 probably benign Het
Slc30a9 A G 5: 67,352,722 D539G probably damaging Het
Slc38a9 A G 13: 112,690,243 S172G probably benign Het
Slfn2 C A 11: 83,069,576 T127K probably benign Het
Smurf1 A T 5: 144,884,724 M496K probably damaging Het
Srgap2 A T 1: 131,319,602 V564D probably damaging Het
Stk32a T C 18: 43,297,511 I162T probably benign Het
Tchhl1 A T 3: 93,471,327 N446I possibly damaging Het
Tmem64 T A 4: 15,266,584 H211Q probably damaging Het
Trim3 T C 7: 105,613,011 N586S probably benign Het
Trpm1 A G 7: 64,219,121 E507G probably damaging Het
Tyk2 G T 9: 21,109,227 probably benign Het
Ugt3a2 A T 15: 9,365,230 K310* probably null Het
Unc13a T A 8: 71,648,942 N1022Y probably damaging Het
Vmn1r172 A T 7: 23,659,803 N38Y probably damaging Het
Vmn2r100 A T 17: 19,521,508 I161F probably damaging Het
Zcchc17 A G 4: 130,349,315 M25T probably benign Het
Zfp563 G A 17: 33,104,821 R130Q probably benign Het
Zhx2 A G 15: 57,823,406 S724G probably benign Het
Other mutations in 4931406P16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:4931406P16Rik APN 7 34245987 splice site probably benign
IGL00160:4931406P16Rik APN 7 34239006 missense possibly damaging 0.88
IGL00691:4931406P16Rik APN 7 34245485 missense probably damaging 1.00
IGL01312:4931406P16Rik APN 7 34256508 missense probably benign 0.19
IGL01954:4931406P16Rik APN 7 34245035 missense probably damaging 1.00
IGL02016:4931406P16Rik APN 7 34239101 missense possibly damaging 0.74
IGL02390:4931406P16Rik APN 7 34248218 missense probably damaging 1.00
IGL02677:4931406P16Rik APN 7 34242409 splice site probably benign
IGL02929:4931406P16Rik APN 7 34245082 missense possibly damaging 0.46
IGL03285:4931406P16Rik APN 7 34284991 missense possibly damaging 0.81
I1329:4931406P16Rik UTSW 7 34245194 missense probably benign 0.00
R0004:4931406P16Rik UTSW 7 34256428 missense probably damaging 0.99
R0100:4931406P16Rik UTSW 7 34254011 missense possibly damaging 0.95
R0100:4931406P16Rik UTSW 7 34254011 missense possibly damaging 0.95
R0135:4931406P16Rik UTSW 7 34245957 missense probably damaging 1.00
R0137:4931406P16Rik UTSW 7 34239219 missense probably damaging 1.00
R0556:4931406P16Rik UTSW 7 34239797 missense probably damaging 0.99
R0687:4931406P16Rik UTSW 7 34245418 missense possibly damaging 0.95
R0928:4931406P16Rik UTSW 7 34248246 splice site probably null
R1719:4931406P16Rik UTSW 7 34248206 missense probably damaging 0.98
R1908:4931406P16Rik UTSW 7 34258036 missense probably benign 0.14
R1909:4931406P16Rik UTSW 7 34258036 missense probably benign 0.14
R1976:4931406P16Rik UTSW 7 34257380 missense probably damaging 0.99
R2496:4931406P16Rik UTSW 7 34256491 missense possibly damaging 0.93
R3005:4931406P16Rik UTSW 7 34284784 missense probably damaging 1.00
R4666:4931406P16Rik UTSW 7 34284773 missense probably damaging 0.98
R4832:4931406P16Rik UTSW 7 34238908 utr 3 prime probably benign
R4870:4931406P16Rik UTSW 7 34284887 missense possibly damaging 0.83
R4989:4931406P16Rik UTSW 7 34245800 missense probably damaging 1.00
R5033:4931406P16Rik UTSW 7 34245812 missense probably benign
R5308:4931406P16Rik UTSW 7 34245755 nonsense probably null
R5366:4931406P16Rik UTSW 7 34242288 missense possibly damaging 0.74
R5386:4931406P16Rik UTSW 7 34242388 missense probably damaging 0.99
R5688:4931406P16Rik UTSW 7 34253991 missense possibly damaging 0.74
R5688:4931406P16Rik UTSW 7 34284709 missense probably damaging 0.99
R5714:4931406P16Rik UTSW 7 34240516 nonsense probably null
R5733:4931406P16Rik UTSW 7 34245080 missense probably damaging 0.99
R5772:4931406P16Rik UTSW 7 34253988 missense probably damaging 0.97
R6059:4931406P16Rik UTSW 7 34245463 missense possibly damaging 0.90
R6211:4931406P16Rik UTSW 7 34239004 missense possibly damaging 0.95
R6276:4931406P16Rik UTSW 7 34242377 nonsense probably null
R6477:4931406P16Rik UTSW 7 34257630 critical splice donor site probably null
R6757:4931406P16Rik UTSW 7 34239077 missense possibly damaging 0.89
R6912:4931406P16Rik UTSW 7 34245668 missense probably benign
R7156:4931406P16Rik UTSW 7 34245708 missense possibly damaging 0.80
R7317:4931406P16Rik UTSW 7 34263647 missense probably benign
R7431:4931406P16Rik UTSW 7 34284794 missense possibly damaging 0.73
R7452:4931406P16Rik UTSW 7 34245671 missense probably benign
X0021:4931406P16Rik UTSW 7 34245363 missense possibly damaging 0.94
Posted On2015-04-16