Incidental Mutation 'R0042:A930017K11Rik'
ID15451
Institutional Source Beutler Lab
Gene Symbol A930017K11Rik
Ensembl Gene ENSMUSG00000025727
Gene NameRIKEN cDNA A930017K11 gene
Synonyms
MMRRC Submission 038336-MU
Accession Numbers

Ensembl: ENSMUST00000162431; MGI:2442713

Is this an essential gene? Probably non essential (E-score: 0.035) question?
Stock #R0042 (G1)
Quality Score
Status Validated
Chromosome17
Chromosomal Location25946387-25952565 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 25947982 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 194 (E194*)
Ref Sequence ENSEMBL: ENSMUSP00000125106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085027] [ENSMUST00000148307] [ENSMUST00000162431] [ENSMUST00000181174]
Predicted Effect probably benign
Transcript: ENSMUST00000085027
SMART Domains Protein: ENSMUSP00000082102
Gene: ENSMUSG00000090113

DomainStartEndE-ValueType
Pfam:NHL 61 88 8.4e-8 PFAM
SCOP:d1crua_ 89 129 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162078
Predicted Effect probably null
Transcript: ENSMUST00000162431
AA Change: E194*
SMART Domains Protein: ENSMUSP00000125106
Gene: ENSMUSG00000025727
AA Change: E194*

DomainStartEndE-ValueType
Pfam:zf-C2H2_7 17 70 4.3e-40 PFAM
low complexity region 77 90 N/A INTRINSIC
low complexity region 117 137 N/A INTRINSIC
low complexity region 158 170 N/A INTRINSIC
low complexity region 229 249 N/A INTRINSIC
low complexity region 294 311 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Predicted Effect probably benign
Transcript: ENSMUST00000181174
Meta Mutation Damage Score 0.594 question?
Coding Region Coverage
  • 1x: 81.9%
  • 3x: 73.7%
  • 10x: 53.7%
  • 20x: 34.5%
Validation Efficiency 94% (58/62)
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,059,245 probably benign Het
Adgrf3 A G 5: 30,197,428 L534P probably damaging Het
Ank2 T C 3: 126,936,631 D3568G probably damaging Het
Atr T A 9: 95,927,356 probably benign Het
Ccnb2 A G 9: 70,419,053 V34A probably benign Het
Dmxl1 C A 18: 49,864,035 T466K probably benign Het
Eya1 T C 1: 14,184,489 D373G probably damaging Het
Fam120a A G 13: 48,934,014 V290A probably damaging Het
Gpr179 C T 11: 97,334,931 V2133I probably benign Het
Grb10 G T 11: 11,936,798 H435Q probably damaging Het
Gzmm T C 10: 79,694,565 I190T probably benign Het
H2-Q3 A G 17: 35,359,847 noncoding transcript Het
Hspb7 A G 4: 141,423,934 E129G probably damaging Het
Il17ra T C 6: 120,472,125 probably benign Het
Itgb3 A G 11: 104,667,140 T787A possibly damaging Het
Krt4 T G 15: 101,922,752 probably benign Het
Lgsn C T 1: 31,190,453 T85I probably benign Het
Metap1 C T 3: 138,472,157 V217I probably benign Het
Mib2 A T 4: 155,659,440 C48* probably null Het
Mroh4 T A 15: 74,610,305 I768F probably damaging Het
Npas3 T A 12: 54,048,841 D361E probably damaging Het
P4hb G A 11: 120,568,266 R134C probably damaging Het
Rbl1 A G 2: 157,175,704 probably benign Het
Rdh10 T A 1: 16,108,036 probably benign Het
Spata31 A T 13: 64,922,563 I842L probably benign Het
Stk32b A C 5: 37,716,748 D13E probably benign Het
Svep1 T C 4: 58,123,192 D708G possibly damaging Het
Taar6 T C 10: 23,985,123 D175G probably benign Het
Tmod4 T C 3: 95,129,788 D164G possibly damaging Het
Ttc23l A C 15: 10,551,541 L33W probably damaging Het
Ttc39d T C 17: 80,215,950 Y13H probably benign Het
Utp18 G T 11: 93,875,858 T309K probably damaging Het
Vps11 G T 9: 44,356,291 Y341* probably null Het
Vsig8 T C 1: 172,560,358 V5A possibly damaging Het
Other mutations in A930017K11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:A930017K11Rik APN 17 25947162 missense probably benign 0.02
R0042:A930017K11Rik UTSW 17 25947982 nonsense probably null
R0558:A930017K11Rik UTSW 17 25947549 missense probably benign 0.00
R0856:A930017K11Rik UTSW 17 25948027 missense probably benign
R1623:A930017K11Rik UTSW 17 25947534 missense probably benign 0.01
R1830:A930017K11Rik UTSW 17 25946717 missense possibly damaging 0.95
R2173:A930017K11Rik UTSW 17 25948487 missense probably damaging 1.00
R6726:A930017K11Rik UTSW 17 25947715 missense probably benign 0.17
Posted On2012-12-21