Incidental Mutation 'R1147:A530032D15Rik'
List |< first << previous [record 34 of 1871] next >> last >|
ID102468
Institutional Source Beutler Lab
Gene Symbol A530032D15Rik
Ensembl Gene ENSMUSG00000089844
Gene NameRIKEN cDNA A530032D15Rik gene
SynonymsLOC381287
MMRRC Submission 039220-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.211) question?
Stock #R1147 (G1)
Quality Score92
Status Not validated
Chromosome1
Chromosomal Location85083069-85109853 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 85099505 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 113 (K113N)
Ref Sequence ENSEMBL: ENSMUSP00000123750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097669] [ENSMUST00000160792] [ENSMUST00000161675] [ENSMUST00000161724]
Predicted Effect probably benign
Transcript: ENSMUST00000097669
SMART Domains Protein: ENSMUSP00000137265
Gene: ENSMUSG00000073631

DomainStartEndE-ValueType
low complexity region 111 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159114
Predicted Effect probably benign
Transcript: ENSMUST00000160792
AA Change: K113N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844
AA Change: K113N

DomainStartEndE-ValueType
Pfam:Sp100 23 125 9.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161675
AA Change: K113N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123812
Gene: ENSMUSG00000089844
AA Change: K113N

DomainStartEndE-ValueType
Pfam:Sp100 23 121 3.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161724
AA Change: K113N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123750
Gene: ENSMUSG00000089844
AA Change: K113N

DomainStartEndE-ValueType
Pfam:Sp100 24 122 2.4e-40 PFAM
Meta Mutation Damage Score 0.118 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.7%
  • 10x: 89.5%
  • 20x: 66.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 40,795,618 I255T possibly damaging Het
Aknad1 T A 3: 108,752,541 N290K possibly damaging Het
Als2cr12 A T 1: 58,669,463 Y215N probably damaging Het
Ano8 C A 8: 71,482,017 V447F probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Ash1l A T 3: 88,984,887 M1358L possibly damaging Het
Ccdc110 A G 8: 45,944,084 K837E possibly damaging Het
Cd19 T A 7: 126,411,045 D384V possibly damaging Het
Ces1f C T 8: 93,258,281 V473I possibly damaging Het
Chd6 C T 2: 160,990,271 E994K probably damaging Het
Col5a2 G T 1: 45,376,771 N1405K probably damaging Het
Dnah7b A G 1: 46,340,266 D3720G probably damaging Het
Dsel T C 1: 111,862,209 T199A possibly damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Hrg G T 16: 22,961,004 C344F probably damaging Het
Htt T C 5: 34,851,252 Y1462H probably damaging Het
Kcnh2 T A 5: 24,324,387 I784F probably damaging Het
Kifc3 T C 8: 95,137,918 T55A probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Olfr434 A T 6: 43,217,212 T100S probably damaging Het
Olfr692 G A 7: 105,369,277 R308Q probably benign Het
Oog3 A G 4: 144,158,412 F318S possibly damaging Het
Pde5a C T 3: 122,794,313 T376M probably damaging Het
Pkhd1l1 A G 15: 44,537,441 I2204V probably null Het
Ppp1r13l A G 7: 19,375,847 D731G probably damaging Het
Ptk6 C T 2: 181,195,797 G443D probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Ptprs T C 17: 56,423,504 D749G probably damaging Het
Ralgapa1 A T 12: 55,702,480 D1212E probably damaging Het
Rsad1 T C 11: 94,544,140 Y290C probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Slc6a11 T A 6: 114,244,870 I507N possibly damaging Het
Sybu A T 15: 44,746,255 F78I probably damaging Het
Tox A T 4: 6,823,055 N87K possibly damaging Het
Trrap G A 5: 144,804,766 G1308R probably damaging Het
Trub2 A G 2: 29,787,632 probably benign Het
Vmn2r114 A T 17: 23,311,063 H123Q probably benign Het
Vmn2r15 T A 5: 109,293,206 Y262F probably damaging Het
Vmn2r33 C T 7: 7,554,145 E519K probably benign Het
Zfp106 A T 2: 120,520,536 C1545S probably damaging Het
Other mutations in A530032D15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4340:A530032D15Rik UTSW 1 85109351 missense probably damaging 0.99
PIT4131001:A530032D15Rik UTSW 1 85099620 missense probably benign 0.01
PIT4142001:A530032D15Rik UTSW 1 85099620 missense probably benign 0.01
R0602:A530032D15Rik UTSW 1 85099505 missense probably benign 0.00
R0831:A530032D15Rik UTSW 1 85099505 missense probably benign 0.00
R1852:A530032D15Rik UTSW 1 85085131 unclassified probably benign
R4277:A530032D15Rik UTSW 1 85088800 intron probably benign
R4385:A530032D15Rik UTSW 1 85109336 critical splice donor site probably null
R4391:A530032D15Rik UTSW 1 85085131 unclassified probably benign
R4691:A530032D15Rik UTSW 1 85088800 intron probably benign
R4863:A530032D15Rik UTSW 1 85088800 intron probably benign
R5173:A530032D15Rik UTSW 1 85100567 nonsense probably null
R5176:A530032D15Rik UTSW 1 85088800 intron probably benign
R6919:A530032D15Rik UTSW 1 85109346 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15