Incidental Mutation 'IGL01860:Rspry1'
ID178300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rspry1
Ensembl Gene ENSMUSG00000050079
Gene Namering finger and SPRY domain containing 1
Synonyms4930470D19Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.403) question?
Stock #IGL01860
Quality Score
Status
Chromosome8
Chromosomal Location94601937-94660275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94649816 bp
ZygosityHeterozygous
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]
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 N248Y possibly damaging Het
Adamts13 G A 2: 26,978,011 V128M probably damaging Het
Agl A T 3: 116,772,526 probably benign Het
Arfgef1 A T 1: 10,154,396 M1405K probably damaging Het
Atp6v1a G T 16: 44,099,956 L426M probably damaging Het
Cdc123 A G 2: 5,803,941 probably benign Het
Cept1 A G 3: 106,531,128 probably benign Het
Cipc T A 12: 86,960,273 D60E probably damaging Het
Exosc3 A G 4: 45,319,659 I121T probably benign Het
Fam155a A T 8: 9,207,831 V439E probably damaging Het
Fam26f A G 10: 34,126,565 V174A probably damaging Het
Fbln5 A G 12: 101,809,869 Y89H probably damaging Het
Fhod3 T A 18: 24,903,948 I154N probably damaging Het
Fhod3 T C 18: 24,897,681 F128L probably damaging Het
Fpgt T C 3: 155,086,846 T515A probably benign Het
Gas2l2 G A 11: 83,422,080 T802I probably benign Het
Gm10424 G A 5: 95,270,651 T162I probably benign Het
Gm10710 T A 3: 83,127,849 probably benign Het
Gm11639 T C 11: 104,690,921 S30P probably benign Het
Hdac4 A G 1: 91,933,695 M1051T probably benign Het
Heatr5b A G 17: 78,808,480 V849A probably damaging Het
Helb T C 10: 120,102,833 I579V probably damaging Het
Hspa1l A G 17: 34,978,811 I609V probably benign Het
Itgam C A 7: 128,070,943 Q136K probably benign Het
Kcnc1 T C 7: 46,428,130 L452P probably damaging Het
Ltbp4 T A 7: 27,319,646 T1083S probably damaging Het
Mki67 T C 7: 135,698,957 I1449M probably damaging Het
Mpp5 T C 12: 78,830,907 V531A possibly damaging Het
P2rx5 T A 11: 73,165,559 V103E probably damaging Het
Pappa A G 4: 65,205,092 D888G possibly damaging Het
Pcdhb21 G T 18: 37,514,905 M362I probably benign Het
Pde1a A G 2: 79,875,284 S333P probably damaging Het
Ppm1j A G 3: 104,784,092 T299A probably damaging Het
Ptdss2 A G 7: 141,152,836 E168G probably damaging Het
Slc7a9 T A 7: 35,457,060 V309E probably damaging Het
Slco6c1 A G 1: 97,075,823 probably benign Het
Tas2r120 T A 6: 132,657,264 M103K probably damaging Het
Tbxas1 T A 6: 38,948,627 F59I probably damaging Het
Tfpi A G 2: 84,444,034 S203P probably benign Het
Tram2 T C 1: 21,003,859 N285S possibly damaging Het
Trio T A 15: 27,846,810 D980V probably damaging Het
Trpv5 T A 6: 41,660,295 H419L probably damaging Het
Usp28 C T 9: 49,032,243 R361* probably null Het
Vmn1r6 T A 6: 57,002,689 L112* probably null Het
Vmn2r12 A T 5: 109,092,159 N179K probably benign Het
Vmn2r82 G T 10: 79,378,857 A225S probably benign Het
Zcchc4 A G 5: 52,808,356 Y334C probably damaging Het
Zfp609 T C 9: 65,702,834 E949G possibly damaging Het
Other mutations in Rspry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rspry1 APN 8 94622986 start codon destroyed probably null 0.89
IGL00158:Rspry1 APN 8 94622980 intron probably benign
IGL01141:Rspry1 APN 8 94649855 missense probably benign 0.00
IGL02174:Rspry1 APN 8 94633140 missense possibly damaging 0.84
IGL02819:Rspry1 APN 8 94654256 missense probably benign 0.42
IGL02926:Rspry1 APN 8 94649811 missense probably damaging 1.00
IGL03366:Rspry1 APN 8 94650334 missense probably benign 0.00
R0570:Rspry1 UTSW 8 94629792 missense probably damaging 1.00
R1833:Rspry1 UTSW 8 94635488 missense probably damaging 1.00
R1988:Rspry1 UTSW 8 94632054 critical splice acceptor site probably null
R2444:Rspry1 UTSW 8 94623107 missense probably damaging 1.00
R3623:Rspry1 UTSW 8 94649777 missense probably damaging 1.00
R3624:Rspry1 UTSW 8 94649777 missense probably damaging 1.00
R4275:Rspry1 UTSW 8 94649761 missense probably benign 0.00
R4888:Rspry1 UTSW 8 94658789 missense probably benign 0.19
R5026:Rspry1 UTSW 8 94650303 missense probably damaging 1.00
R5310:Rspry1 UTSW 8 94623185 missense probably benign
R5374:Rspry1 UTSW 8 94623008 missense probably benign 0.00
R5374:Rspry1 UTSW 8 94654264 missense probably benign 0.38
R5387:Rspry1 UTSW 8 94638286 missense possibly damaging 0.95
R5517:Rspry1 UTSW 8 94636760 splice site probably null
R5631:Rspry1 UTSW 8 94629078 start codon destroyed possibly damaging 0.79
R5653:Rspry1 UTSW 8 94636611 splice site probably null
R6065:Rspry1 UTSW 8 94622987 start codon destroyed probably null 0.98
R6220:Rspry1 UTSW 8 94658750 missense probably damaging 1.00
R6276:Rspry1 UTSW 8 94623258 missense probably damaging 1.00
R6821:Rspry1 UTSW 8 94635431 nonsense probably null
R7390:Rspry1 UTSW 8 94623185 missense probably benign
R7460:Rspry1 UTSW 8 94650335 missense probably benign 0.00
R7644:Rspry1 UTSW 8 94658768 missense probably benign 0.00
R7717:Rspry1 UTSW 8 94623122 missense probably damaging 1.00
R7768:Rspry1 UTSW 8 94629841 missense probably damaging 1.00
R8087:Rspry1 UTSW 8 94654297 missense probably benign 0.04
X0010:Rspry1 UTSW 8 94629801 missense possibly damaging 0.76
Posted On2014-05-07