Incidental Mutation 'IGL02937:5730480H06Rik'
ID 364358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5730480H06Rik
Ensembl Gene ENSMUSG00000029089
Gene Name RIKEN cDNA 5730480H06 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02937
Quality Score
Status
Chromosome 5
Chromosomal Location 48552915-48571636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48536783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 160 (I160V)
Ref Sequence ENSEMBL: ENSMUSP00000143072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030968] [ENSMUST00000196950] [ENSMUST00000200566]
AlphaFold Q9D3X5
Predicted Effect probably benign
Transcript: ENSMUST00000030968
AA Change: I160V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000030968
Gene: ENSMUSG00000029089
AA Change: I160V

DomainStartEndE-ValueType
low complexity region 46 59 N/A INTRINSIC
Pfam:ParcG 78 245 1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196604
Predicted Effect probably benign
Transcript: ENSMUST00000196950
AA Change: I160V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143072
Gene: ENSMUSG00000029089
AA Change: I160V

DomainStartEndE-ValueType
low complexity region 46 59 N/A INTRINSIC
Pfam:ParcG 78 245 1e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197915
Predicted Effect probably benign
Transcript: ENSMUST00000200566
SMART Domains Protein: ENSMUSP00000142613
Gene: ENSMUSG00000029089

DomainStartEndE-ValueType
low complexity region 46 59 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,206,049 (GRCm39) C21Y probably damaging Het
4933427D06Rik T C 6: 89,085,127 (GRCm39) noncoding transcript Het
Arhgap29 G A 3: 121,767,698 (GRCm39) E47K probably damaging Het
Arhgef12 T A 9: 42,927,216 (GRCm39) S303C probably damaging Het
Bap1 A G 14: 30,980,284 (GRCm39) N644S probably benign Het
Cc2d1b A G 4: 108,489,091 (GRCm39) E796G probably damaging Het
Cfh C A 1: 140,033,180 (GRCm39) R788L probably benign Het
Cldn1 A G 16: 26,179,623 (GRCm39) F148S probably damaging Het
Cryzl1 A G 16: 91,487,619 (GRCm39) M292T possibly damaging Het
Cyp11b1 T C 15: 74,708,408 (GRCm39) R385G possibly damaging Het
Cyp4f37 T C 17: 32,844,163 (GRCm39) L89P probably benign Het
Dach1 A G 14: 98,153,231 (GRCm39) probably null Het
Dhtkd1 A G 2: 5,922,716 (GRCm39) I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 (GRCm39) D44E probably damaging Het
Dsg1a T A 18: 20,464,591 (GRCm39) I362N possibly damaging Het
Ecm2 T A 13: 49,671,952 (GRCm39) I151N probably damaging Het
Far1 T A 7: 113,139,855 (GRCm39) I101N probably damaging Het
Gm21985 T C 2: 112,172,207 (GRCm39) S384P probably benign Het
Gnb5 T C 9: 75,247,471 (GRCm39) Y247H probably damaging Het
Golgb1 A G 16: 36,736,572 (GRCm39) K1940E probably damaging Het
Gprc5b A G 7: 118,583,017 (GRCm39) V284A probably benign Het
Idh2 T C 7: 79,748,661 (GRCm39) Y179C probably damaging Het
Kalrn G A 16: 34,040,500 (GRCm39) Q737* probably null Het
Kcnj13 T C 1: 87,314,175 (GRCm39) D349G probably damaging Het
Lgsn A T 1: 31,243,318 (GRCm39) T467S possibly damaging Het
Map9 T A 3: 82,270,819 (GRCm39) S128T possibly damaging Het
Mroh5 A G 15: 73,661,827 (GRCm39) C455R probably damaging Het
Nes A G 3: 87,887,186 (GRCm39) H1771R probably benign Het
Nkain2 T C 10: 32,205,840 (GRCm39) Y65C probably damaging Het
Or51a43 T A 7: 103,718,056 (GRCm39) M61L probably damaging Het
Or51b6b A T 7: 103,310,112 (GRCm39) V115D probably damaging Het
Or6aa1 T C 7: 86,043,798 (GRCm39) K303E possibly damaging Het
Pabpc4l A C 3: 46,400,725 (GRCm39) D306E probably benign Het
Parp12 A T 6: 39,079,515 (GRCm39) Y332N probably damaging Het
Parvb A T 15: 84,193,154 (GRCm39) K316M probably damaging Het
Pde8a T A 7: 80,945,519 (GRCm39) probably benign Het
Polq A G 16: 36,833,471 (GRCm39) T55A probably benign Het
Ppp2r5b T A 19: 6,281,016 (GRCm39) K271M probably damaging Het
Ralgapb A G 2: 158,334,936 (GRCm39) probably null Het
Rigi C T 4: 40,229,661 (GRCm39) C86Y probably benign Het
Skap2 T C 6: 51,886,351 (GRCm39) N175D probably benign Het
Slc44a3 A G 3: 121,303,970 (GRCm39) probably benign Het
Smurf2 G A 11: 106,736,873 (GRCm39) H318Y probably damaging Het
Tbc1d23 T C 16: 57,004,778 (GRCm39) T460A possibly damaging Het
Tcerg1 T C 18: 42,657,414 (GRCm39) S299P unknown Het
Tll1 A C 8: 64,658,319 (GRCm39) Y33* probably null Het
Tmem59 A T 4: 107,054,782 (GRCm39) T196S probably damaging Het
Ttll4 C A 1: 74,718,662 (GRCm39) A171D possibly damaging Het
Ttn T C 2: 76,641,513 (GRCm39) T13528A possibly damaging Het
Ttn A G 2: 76,717,621 (GRCm39) probably benign Het
Xpc C A 6: 91,477,119 (GRCm39) G327W probably damaging Het
Zbtb7a A G 10: 80,980,132 (GRCm39) S109G probably benign Het
Zfyve26 T C 12: 79,285,794 (GRCm39) M2328V probably benign Het
Other mutations in 5730480H06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:5730480H06Rik APN 5 48,537,524 (GRCm39) missense probably benign 0.22
IGL02473:5730480H06Rik APN 5 48,545,440 (GRCm39) splice site probably benign
IGL02974:5730480H06Rik APN 5 48,545,479 (GRCm39) missense probably damaging 1.00
R0539:5730480H06Rik UTSW 5 48,536,692 (GRCm39) missense probably damaging 1.00
R0583:5730480H06Rik UTSW 5 48,537,470 (GRCm39) missense probably damaging 0.96
R1937:5730480H06Rik UTSW 5 48,531,777 (GRCm39) missense probably benign 0.17
R7225:5730480H06Rik UTSW 5 48,537,575 (GRCm39) critical splice donor site probably null
R7405:5730480H06Rik UTSW 5 48,545,458 (GRCm39) missense possibly damaging 0.95
R8218:5730480H06Rik UTSW 5 48,536,769 (GRCm39) nonsense probably null
R8438:5730480H06Rik UTSW 5 48,534,425 (GRCm39) missense probably damaging 1.00
R8495:5730480H06Rik UTSW 5 48,536,699 (GRCm39) missense possibly damaging 0.83
R8807:5730480H06Rik UTSW 5 48,534,494 (GRCm39) missense probably damaging 0.97
R9612:5730480H06Rik UTSW 5 48,531,872 (GRCm39) missense probably benign 0.33
Posted On 2015-12-18