Incidental Mutation 'R0547:A530084C06Rik'
ID 44924
Institutional Source Beutler Lab
Gene Symbol A530084C06Rik
Ensembl Gene ENSMUSG00000090863
Gene Name RIKEN cDNA A530084C06 gene
Synonyms
MMRRC Submission 038739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R0547 (G1)
Quality Score 191
Status Validated
Chromosome 13
Chromosomal Location 31740117-31743316 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 31742813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042118] [ENSMUST00000170573]
AlphaFold Q3UTW2
Predicted Effect probably benign
Transcript: ENSMUST00000042118
SMART Domains Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415

DomainStartEndE-ValueType
low complexity region 32 72 N/A INTRINSIC
low complexity region 89 105 N/A INTRINSIC
FH 113 204 3.98e-50 SMART
low complexity region 206 211 N/A INTRINSIC
low complexity region 225 254 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
low complexity region 296 325 N/A INTRINSIC
low complexity region 340 355 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000170573
AA Change: W147R
SMART Domains Protein: ENSMUSP00000129167
Gene: ENSMUSG00000090863
AA Change: W147R

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
low complexity region 44 67 N/A INTRINSIC
low complexity region 91 106 N/A INTRINSIC
low complexity region 168 186 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,570,498 (GRCm39) Y181H probably benign Het
Adamtsl1 A G 4: 86,274,592 (GRCm39) D1208G probably benign Het
Ankrd55 T C 13: 112,504,757 (GRCm39) F501S probably benign Het
Aox1 G A 1: 58,349,201 (GRCm39) D656N probably damaging Het
Atr A T 9: 95,781,218 (GRCm39) probably benign Het
Bicra G A 7: 15,706,173 (GRCm39) R1423W probably damaging Het
Cabyr T A 18: 12,884,073 (GRCm39) S187T probably benign Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Cdon A T 9: 35,368,794 (GRCm39) T343S possibly damaging Het
Cep350 C T 1: 155,777,181 (GRCm39) probably null Het
Cimap1a A G 7: 140,428,728 (GRCm39) probably null Het
Copa T C 1: 171,949,254 (GRCm39) probably benign Het
Cyp4f18 T C 8: 72,749,854 (GRCm39) D265G probably benign Het
Dgkb T A 12: 38,654,157 (GRCm39) C759S probably benign Het
Dnah6 T C 6: 73,021,757 (GRCm39) M3470V probably benign Het
Eif4g2 T C 7: 110,677,500 (GRCm39) N177S probably damaging Het
Etfb C T 7: 43,104,002 (GRCm39) Q145* probably null Het
Flnb T A 14: 7,912,943 (GRCm38) probably null Het
G430095P16Rik G A 8: 85,453,271 (GRCm39) probably benign Het
Gfral A T 9: 76,115,924 (GRCm39) S17T probably benign Het
Gpr26 T C 7: 131,586,026 (GRCm39) I332T probably benign Het
Greb1 T A 12: 16,773,412 (GRCm39) T221S probably benign Het
Haus5 A T 7: 30,358,508 (GRCm39) S289T probably damaging Het
Ighv6-4 T C 12: 114,370,221 (GRCm39) Y77C probably damaging Het
Il23r A T 6: 67,400,685 (GRCm39) D548E probably benign Het
Il23r A T 6: 67,463,235 (GRCm39) F86Y possibly damaging Het
Inppl1 A T 7: 101,480,210 (GRCm39) M424K probably benign Het
Jam3 A G 9: 27,010,184 (GRCm39) Y267H probably damaging Het
Lrrc37 T C 11: 103,510,990 (GRCm39) N326S unknown Het
Mms19 A T 19: 41,951,857 (GRCm39) M160K probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Mup5 A G 4: 61,751,237 (GRCm39) L137P probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Ntrk2 G A 13: 59,022,184 (GRCm39) S413N probably damaging Het
Nuak2 C A 1: 132,259,941 (GRCm39) T573N probably benign Het
Or4m1 A T 14: 50,557,575 (GRCm39) I239K probably benign Het
Or52h9 G A 7: 104,202,563 (GRCm39) V146M probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pclo T A 5: 14,842,086 (GRCm39) I4787N unknown Het
Pde8a G T 7: 80,973,878 (GRCm39) V612L probably benign Het
Pear1 A T 3: 87,696,107 (GRCm39) probably null Het
Pgbd1 A G 13: 21,607,688 (GRCm39) Y169H probably damaging Het
Pkd1l1 A G 11: 8,786,448 (GRCm39) probably benign Het
Prkag3 C T 1: 74,783,879 (GRCm39) probably null Het
Rsph9 A T 17: 46,455,050 (GRCm39) S9T possibly damaging Het
Rxfp1 A T 3: 79,612,876 (GRCm39) probably null Het
Senp7 A G 16: 55,996,189 (GRCm39) E756G probably damaging Het
Serpina1e G T 12: 103,915,450 (GRCm39) T252K probably benign Het
Sipa1l1 T A 12: 82,484,510 (GRCm39) S1555T probably benign Het
Slain1 T C 14: 103,932,711 (GRCm39) S432P probably damaging Het
Slc37a2 A T 9: 37,144,418 (GRCm39) probably null Het
Thg1l C T 11: 45,845,018 (GRCm39) R18Q probably damaging Het
Tnn A G 1: 159,943,907 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Tshz3 A G 7: 36,470,842 (GRCm39) T944A probably damaging Het
Ttn C G 2: 76,684,774 (GRCm39) probably benign Het
Ythdc2 T C 18: 44,973,331 (GRCm39) S323P possibly damaging Het
Zfp827 A G 8: 79,786,939 (GRCm39) N35S probably damaging Het
Other mutations in A530084C06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4700:A530084C06Rik UTSW 13 31,742,795 (GRCm39) utr 5 prime probably benign
R5519:A530084C06Rik UTSW 13 31,742,702 (GRCm39) utr 5 prime probably benign
R5866:A530084C06Rik UTSW 13 31,743,178 (GRCm39) missense unknown
R7546:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7549:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7630:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7633:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7899:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7900:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7902:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GAAATCCTAAGGCTGGTGTGTCCTG -3'
(R):5'- TACTCGTTGATCTCGGCCAGTGTC -3'

Sequencing Primer
(F):5'- GTCTCTAAACCTCGGAGTAAGG -3'
(R):5'- TCTGAGCCTAAGGAGTCGTC -3'
Posted On 2013-06-11