Incidental Mutation 'IGL02926:Rspry1'
ID 363892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rspry1
Ensembl Gene ENSMUSG00000050079
Gene Name ring finger and SPRY domain containing 1
Synonyms 4930470D19Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.456) question?
Stock # IGL02926
Quality Score
Status
Chromosome 8
Chromosomal Location 94601937-94660275 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94649811 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 320 (N320K)
Ref Sequence ENSEMBL: ENSMUSP00000148724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000211983] [ENSMUST00000212729]
AlphaFold Q8BVR6
Predicted Effect probably damaging
Transcript: ENSMUST00000060389
AA Change: N444K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: N444K

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 30 39 N/A INTRINSIC
low complexity region 74 95 N/A INTRINSIC
SPRY 358 482 2.94e-26 SMART
RING 527 561 3.93e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211941
Predicted Effect probably damaging
Transcript: ENSMUST00000211983
AA Change: N444K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212729
AA Change: N320K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,712,366 (GRCm38) R921K probably benign Het
Alms1 A T 6: 85,641,450 (GRCm38) D2826V probably damaging Het
Alpl C T 4: 137,742,634 (GRCm38) A460T probably damaging Het
C2cd5 A G 6: 143,031,237 (GRCm38) probably benign Het
C4b C T 17: 34,730,712 (GRCm38) R1468Q possibly damaging Het
Calu A G 6: 29,366,920 (GRCm38) T44A possibly damaging Het
Cgn T C 3: 94,778,016 (GRCm38) K399R probably benign Het
Cyp2t4 G A 7: 27,157,803 (GRCm38) V356M probably damaging Het
D430041D05Rik T C 2: 104,214,259 (GRCm38) D683G probably damaging Het
Dhcr24 T A 4: 106,586,355 (GRCm38) I410N probably damaging Het
Dmap1 T A 4: 117,681,888 (GRCm38) E17V probably benign Het
Dnah7a A G 1: 53,495,950 (GRCm38) I2717T possibly damaging Het
Epb41l3 G T 17: 69,247,746 (GRCm38) K280N probably damaging Het
Espl1 T A 15: 102,299,855 (GRCm38) M432K probably damaging Het
Fgf5 C A 5: 98,262,015 (GRCm38) A141E probably damaging Het
Fto T A 8: 91,485,167 (GRCm38) F373L probably damaging Het
Gpatch1 T C 7: 35,308,269 (GRCm38) D122G probably damaging Het
Ints11 T C 4: 155,888,111 (GRCm38) probably null Het
Jarid2 A G 13: 44,902,929 (GRCm38) Q398R probably benign Het
Kcnh1 A G 1: 192,276,900 (GRCm38) D254G probably damaging Het
Lamc3 C T 2: 31,935,726 (GRCm38) probably benign Het
Lamc3 C T 2: 31,935,725 (GRCm38) probably benign Het
Ltbp4 T C 7: 27,328,872 (GRCm38) probably null Het
Mcm6 A G 1: 128,339,382 (GRCm38) Y575H probably damaging Het
Myh9 A C 15: 77,787,626 (GRCm38) Y422D probably damaging Het
Narfl A G 17: 25,782,154 (GRCm38) H460R probably benign Het
Olfr1260 T C 2: 89,978,162 (GRCm38) L128P probably damaging Het
Olfr1458 A C 19: 13,102,823 (GRCm38) N160K possibly damaging Het
Olfr911-ps1 T C 9: 38,523,725 (GRCm38) probably benign Het
Plcb1 T C 2: 135,364,762 (GRCm38) probably benign Het
Pmfbp1 A G 8: 109,520,249 (GRCm38) E251G probably damaging Het
Psg27 A T 7: 18,557,129 (GRCm38) V383E probably damaging Het
Ptprn A T 1: 75,247,873 (GRCm38) H946Q possibly damaging Het
Rbl1 A G 2: 157,167,413 (GRCm38) V734A probably benign Het
Ryr1 A T 7: 29,061,540 (GRCm38) V3219D probably damaging Het
Ryr2 C A 13: 11,759,835 (GRCm38) W1145L probably damaging Het
Scel A T 14: 103,576,247 (GRCm38) R319* probably null Het
Stxbp2 C T 8: 3,635,629 (GRCm38) T226I probably benign Het
Tac1 A T 6: 7,562,410 (GRCm38) N106I possibly damaging Het
Trim13 G T 14: 61,605,244 (GRCm38) probably null Het
Tspan31 T G 10: 127,068,909 (GRCm38) probably null Het
Usp36 C T 11: 118,264,783 (GRCm38) V723M probably benign Het
Utrn A T 10: 12,690,760 (GRCm38) N1219K probably damaging Het
Vcan G T 13: 89,688,623 (GRCm38) T2934K probably damaging Het
Other mutations in Rspry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rspry1 APN 8 94,622,980 (GRCm38) intron probably benign
IGL00158:Rspry1 APN 8 94,622,986 (GRCm38) start codon destroyed probably null 0.89
IGL01141:Rspry1 APN 8 94,649,855 (GRCm38) missense probably benign 0.00
IGL01860:Rspry1 APN 8 94,649,816 (GRCm38) missense probably benign 0.00
IGL02174:Rspry1 APN 8 94,633,140 (GRCm38) missense possibly damaging 0.84
IGL02819:Rspry1 APN 8 94,654,256 (GRCm38) missense probably benign 0.42
IGL03366:Rspry1 APN 8 94,650,334 (GRCm38) missense probably benign 0.00
R0570:Rspry1 UTSW 8 94,629,792 (GRCm38) missense probably damaging 1.00
R1833:Rspry1 UTSW 8 94,635,488 (GRCm38) missense probably damaging 1.00
R1988:Rspry1 UTSW 8 94,632,054 (GRCm38) critical splice acceptor site probably null
R2444:Rspry1 UTSW 8 94,623,107 (GRCm38) missense probably damaging 1.00
R3623:Rspry1 UTSW 8 94,649,777 (GRCm38) missense probably damaging 1.00
R3624:Rspry1 UTSW 8 94,649,777 (GRCm38) missense probably damaging 1.00
R4275:Rspry1 UTSW 8 94,649,761 (GRCm38) missense probably benign 0.00
R4888:Rspry1 UTSW 8 94,658,789 (GRCm38) missense probably benign 0.19
R5026:Rspry1 UTSW 8 94,650,303 (GRCm38) missense probably damaging 1.00
R5310:Rspry1 UTSW 8 94,623,185 (GRCm38) missense probably benign
R5374:Rspry1 UTSW 8 94,654,264 (GRCm38) missense probably benign 0.38
R5374:Rspry1 UTSW 8 94,623,008 (GRCm38) missense probably benign 0.00
R5387:Rspry1 UTSW 8 94,638,286 (GRCm38) missense possibly damaging 0.95
R5517:Rspry1 UTSW 8 94,636,760 (GRCm38) splice site probably null
R5631:Rspry1 UTSW 8 94,629,078 (GRCm38) start codon destroyed possibly damaging 0.79
R5653:Rspry1 UTSW 8 94,636,611 (GRCm38) splice site probably null
R6065:Rspry1 UTSW 8 94,622,987 (GRCm38) start codon destroyed probably null 0.98
R6220:Rspry1 UTSW 8 94,658,750 (GRCm38) missense probably damaging 1.00
R6276:Rspry1 UTSW 8 94,623,258 (GRCm38) missense probably damaging 1.00
R6821:Rspry1 UTSW 8 94,635,431 (GRCm38) nonsense probably null
R7390:Rspry1 UTSW 8 94,623,185 (GRCm38) missense probably benign
R7460:Rspry1 UTSW 8 94,650,335 (GRCm38) missense probably benign 0.00
R7644:Rspry1 UTSW 8 94,658,768 (GRCm38) missense probably benign 0.00
R7717:Rspry1 UTSW 8 94,623,122 (GRCm38) missense probably damaging 1.00
R7768:Rspry1 UTSW 8 94,629,841 (GRCm38) missense probably damaging 1.00
R7940:Rspry1 UTSW 8 94,623,007 (GRCm38) missense probably benign 0.22
R7978:Rspry1 UTSW 8 94,623,125 (GRCm38) missense probably damaging 0.98
R8087:Rspry1 UTSW 8 94,654,297 (GRCm38) missense probably benign 0.04
R8174:Rspry1 UTSW 8 94,649,822 (GRCm38) missense probably damaging 0.97
R8326:Rspry1 UTSW 8 94,639,589 (GRCm38) missense probably damaging 1.00
R8676:Rspry1 UTSW 8 94,632,119 (GRCm38) missense probably benign 0.01
R8715:Rspry1 UTSW 8 94,623,260 (GRCm38) missense probably damaging 0.98
R8869:Rspry1 UTSW 8 94,633,152 (GRCm38) missense probably damaging 0.97
R9253:Rspry1 UTSW 8 94,622,993 (GRCm38) missense probably damaging 1.00
R9281:Rspry1 UTSW 8 94,636,631 (GRCm38) missense probably damaging 1.00
R9699:Rspry1 UTSW 8 94,654,229 (GRCm38) missense probably benign 0.01
X0010:Rspry1 UTSW 8 94,629,801 (GRCm38) missense possibly damaging 0.76
Posted On 2015-12-18