Incidental Mutation 'R1218:5330417H12Rik'
ID 99826
Institutional Source Beutler Lab
Gene Symbol 5330417H12Rik
Ensembl Gene ENSMUSG00000049740
Gene Name RIKEN cDNA 5330417H12 gene
Synonyms
MMRRC Submission 039287-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1218 (G1)
Quality Score 174
Status Not validated
Chromosome 7
Chromosomal Location 107223178-107224368 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 107224024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000060348] [ENSMUST00000098134] [ENSMUST00000208956]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040056
SMART Domains Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528

DomainStartEndE-ValueType
Pfam:Integrase_DNA 192 256 3.4e-24 PFAM
low complexity region 357 374 N/A INTRINSIC
SAM 561 628 1.86e-12 SMART
SAM 633 699 4.07e-9 SMART
SAM 721 793 9.22e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000060348
AA Change: R17G
Predicted Effect probably benign
Transcript: ENSMUST00000098134
SMART Domains Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528

DomainStartEndE-ValueType
PDB:3QH9|A 185 265 2e-26 PDB
low complexity region 357 374 N/A INTRINSIC
SAM 550 617 1.86e-12 SMART
SAM 622 688 4.07e-9 SMART
SAM 710 782 9.22e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208504
Predicted Effect probably benign
Transcript: ENSMUST00000208956
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 97.9%
  • 10x: 93.3%
  • 20x: 80.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C T 15: 81,948,353 (GRCm39) T750I probably benign Het
9230109A22Rik C T 15: 25,139,024 (GRCm39) noncoding transcript Het
Ahnak A G 19: 8,992,983 (GRCm39) K4756E probably damaging Het
Ano5 A T 7: 51,220,169 (GRCm39) probably null Het
Bmp6 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 13: 38,530,226 (GRCm39) probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cbfa2t2 A T 2: 154,365,839 (GRCm39) M350L probably benign Het
Ceacam20 A T 7: 19,710,022 (GRCm39) M349L probably benign Het
Cfap91 A G 16: 38,118,495 (GRCm39) V768A probably benign Het
Chd1 G T 17: 15,945,574 (GRCm39) G33C probably damaging Het
Dhx40 A G 11: 86,690,310 (GRCm39) V237A probably benign Het
Dlst G T 12: 85,170,638 (GRCm39) D256Y probably damaging Het
Dmxl1 T A 18: 50,026,678 (GRCm39) S1929T probably damaging Het
Exosc10 T A 4: 148,654,858 (GRCm39) I551N probably damaging Het
Faap100 T C 11: 120,269,166 (GRCm39) D91G probably benign Het
Fbn1 T G 2: 125,254,669 (GRCm39) Q198P possibly damaging Het
Flrt2 A G 12: 95,745,727 (GRCm39) I22V probably benign Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
H2bc3 A G 13: 23,931,142 (GRCm39) Y122C probably benign Het
Inava A T 1: 136,142,140 (GRCm39) V653E probably damaging Het
Kcnn1 T C 8: 71,305,332 (GRCm39) I293V probably benign Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Mcpt9 G T 14: 56,266,125 (GRCm39) Y34* probably null Het
Mepe A T 5: 104,474,939 (GRCm39) M7L probably benign Het
Mprip A G 11: 59,634,640 (GRCm39) Y383C probably damaging Het
Mtrex G A 13: 113,054,156 (GRCm39) A159V probably damaging Het
Myh2 A T 11: 67,083,351 (GRCm39) D1438V probably damaging Het
Napb T C 2: 148,542,345 (GRCm39) Y205C probably damaging Het
Odf2l A G 3: 144,854,693 (GRCm39) D510G probably damaging Het
Olfml2b A G 1: 170,477,351 (GRCm39) D162G probably damaging Het
Oscp1 T C 4: 125,952,532 (GRCm39) V20A probably benign Het
Pcdhb10 T C 18: 37,546,214 (GRCm39) L430P probably damaging Het
Polq A G 16: 36,849,808 (GRCm39) D354G possibly damaging Het
Rims1 C A 1: 22,522,256 (GRCm39) V481F probably damaging Het
Ryr1 A G 7: 28,785,534 (GRCm39) I1719T possibly damaging Het
Smtn T C 11: 3,480,021 (GRCm39) H400R probably benign Het
Snx33 A G 9: 56,833,269 (GRCm39) Y267H probably damaging Het
Sstr1 T A 12: 58,260,406 (GRCm39) M343K possibly damaging Het
Stx6 T C 1: 155,077,737 (GRCm39) V248A probably benign Het
Tbx5 C T 5: 119,976,785 (GRCm39) L58F probably damaging Het
Tmem241 A G 18: 12,197,271 (GRCm39) Y186H probably damaging Het
Tnfaip8l3 T C 9: 53,934,760 (GRCm39) K72E probably damaging Het
Trrap T A 5: 144,753,219 (GRCm39) I1848N probably damaging Het
Xrcc6 G A 15: 81,907,142 (GRCm39) V155I probably benign Het
Zfp458 T C 13: 67,404,273 (GRCm39) E722G probably damaging Het
Zfyve1 G T 12: 83,594,825 (GRCm39) H722Q possibly damaging Het
Other mutations in 5330417H12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1448:5330417H12Rik UTSW 7 107,223,952 (GRCm39) intron probably benign
R4906:5330417H12Rik UTSW 7 107,223,897 (GRCm39) intron probably benign
R5873:5330417H12Rik UTSW 7 107,223,975 (GRCm39) intron probably benign
R7748:5330417H12Rik UTSW 7 107,223,765 (GRCm39) missense unknown
R8914:5330417H12Rik UTSW 7 107,223,922 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGCGTAGGCACACCTGGTTATTC -3'
(R):5'- ATTTACTGACAGACTGCACTCAGGC -3'

Sequencing Primer
(F):5'- CTGCTCAGTCTCCTCAGATG -3'
(R):5'- ggagaacaggaagagccaag -3'
Posted On 2014-01-15