Incidental Mutation 'IGL01860:Rspry1'
ID 178300
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 # IGL01860
Quality Score
Status
Chromosome 8
Chromosomal Location 94601937-94660275 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94649816 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 322 (N322S)
Ref Sequence ENSEMBL: ENSMUSP00000148724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000211983] [ENSMUST00000212729]
AlphaFold Q8BVR6
Predicted Effect probably benign
Transcript: ENSMUST00000060389
AA Change: N446S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: N446S

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 benign
Transcript: ENSMUST00000211983
AA Change: N446S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000212729
AA Change: N322S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,416 (GRCm38) N248Y possibly damaging Het
Adamts13 G A 2: 26,978,011 (GRCm38) V128M probably damaging Het
Agl A T 3: 116,772,526 (GRCm38) probably benign Het
Arfgef1 A T 1: 10,154,396 (GRCm38) M1405K probably damaging Het
Atp6v1a G T 16: 44,099,956 (GRCm38) L426M probably damaging Het
Cdc123 A G 2: 5,803,941 (GRCm38) probably benign Het
Cept1 A G 3: 106,531,128 (GRCm38) probably benign Het
Cipc T A 12: 86,960,273 (GRCm38) D60E probably damaging Het
Exosc3 A G 4: 45,319,659 (GRCm38) I121T probably benign Het
Fam155a A T 8: 9,207,831 (GRCm38) V439E probably damaging Het
Fam26f A G 10: 34,126,565 (GRCm38) V174A probably damaging Het
Fbln5 A G 12: 101,809,869 (GRCm38) Y89H probably damaging Het
Fhod3 T A 18: 24,903,948 (GRCm38) I154N probably damaging Het
Fhod3 T C 18: 24,897,681 (GRCm38) F128L probably damaging Het
Fpgt T C 3: 155,086,846 (GRCm38) T515A probably benign Het
Gas2l2 G A 11: 83,422,080 (GRCm38) T802I probably benign Het
Gm10424 G A 5: 95,270,651 (GRCm38) T162I probably benign Het
Gm10710 T A 3: 83,127,849 (GRCm38) probably benign Het
Gm11639 T C 11: 104,690,921 (GRCm38) S30P probably benign Het
Hdac4 A G 1: 91,933,695 (GRCm38) M1051T probably benign Het
Heatr5b A G 17: 78,808,480 (GRCm38) V849A probably damaging Het
Helb T C 10: 120,102,833 (GRCm38) I579V probably damaging Het
Hspa1l A G 17: 34,978,811 (GRCm38) I609V probably benign Het
Itgam C A 7: 128,070,943 (GRCm38) Q136K probably benign Het
Kcnc1 T C 7: 46,428,130 (GRCm38) L452P probably damaging Het
Ltbp4 T A 7: 27,319,646 (GRCm38) T1083S probably damaging Het
Mki67 T C 7: 135,698,957 (GRCm38) I1449M probably damaging Het
Mpp5 T C 12: 78,830,907 (GRCm38) V531A possibly damaging Het
P2rx5 T A 11: 73,165,559 (GRCm38) V103E probably damaging Het
Pappa A G 4: 65,205,092 (GRCm38) D888G possibly damaging Het
Pcdhb21 G T 18: 37,514,905 (GRCm38) M362I probably benign Het
Pde1a A G 2: 79,875,284 (GRCm38) S333P probably damaging Het
Ppm1j A G 3: 104,784,092 (GRCm38) T299A probably damaging Het
Ptdss2 A G 7: 141,152,836 (GRCm38) E168G probably damaging Het
Slc7a9 T A 7: 35,457,060 (GRCm38) V309E probably damaging Het
Slco6c1 A G 1: 97,075,823 (GRCm38) probably benign Het
Tas2r120 T A 6: 132,657,264 (GRCm38) M103K probably damaging Het
Tbxas1 T A 6: 38,948,627 (GRCm38) F59I probably damaging Het
Tfpi A G 2: 84,444,034 (GRCm38) S203P probably benign Het
Tram2 T C 1: 21,003,859 (GRCm38) N285S possibly damaging Het
Trio T A 15: 27,846,810 (GRCm38) D980V probably damaging Het
Trpv5 T A 6: 41,660,295 (GRCm38) H419L probably damaging Het
Usp28 C T 9: 49,032,243 (GRCm38) R361* probably null Het
Vmn1r6 T A 6: 57,002,689 (GRCm38) L112* probably null Het
Vmn2r12 A T 5: 109,092,159 (GRCm38) N179K probably benign Het
Vmn2r82 G T 10: 79,378,857 (GRCm38) A225S probably benign Het
Zcchc4 A G 5: 52,808,356 (GRCm38) Y334C probably damaging Het
Zfp609 T C 9: 65,702,834 (GRCm38) E949G possibly 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
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
IGL02926:Rspry1 APN 8 94,649,811 (GRCm38) missense probably damaging 1.00
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 2014-05-07