Incidental Mutation 'IGL03366:Rspry1'
ID 420084
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: 0.361) question?
Stock # IGL03366
Quality Score
Status
Chromosome 8
Chromosomal Location 95328569-95386905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 95376962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 382 (I382L)
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: I506L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: I506L

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: I506L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000212729
AA Change: I382L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 T A 7: 141,209,186 (GRCm39) S793T probably benign Het
Btnl6 T C 17: 34,727,153 (GRCm39) D459G probably damaging Het
Cacna1g C A 11: 94,347,977 (GRCm39) D704Y probably damaging Het
Cby2 A G 14: 75,820,829 (GRCm39) S299P probably benign Het
Cry2 A G 2: 92,244,060 (GRCm39) I371T probably damaging Het
Dock3 A T 9: 106,882,632 (GRCm39) F384I probably benign Het
Dpp4 T C 2: 62,187,301 (GRCm39) probably null Het
Hecw1 G T 13: 14,552,382 (GRCm39) D72E probably damaging Het
Htt T A 5: 35,064,924 (GRCm39) W3046R probably damaging Het
Hydin A T 8: 110,993,995 (GRCm39) N10Y unknown Het
Ighv8-8 T A 12: 115,257,760 (GRCm39) T94S probably benign Het
Igkv4-58 A G 6: 69,477,538 (GRCm39) S20P probably damaging Het
Il4i1 T C 7: 44,486,919 (GRCm39) probably benign Het
Kif13a A T 13: 46,918,099 (GRCm39) S403T probably benign Het
Klhl40 T C 9: 121,612,446 (GRCm39) L616P probably damaging Het
Krt7 T C 15: 101,325,491 (GRCm39) L440P possibly damaging Het
Lpin1 A G 12: 16,594,678 (GRCm39) L755P probably damaging Het
Magee2 C A X: 103,899,134 (GRCm39) E506* probably null Het
Mast3 G A 8: 71,234,207 (GRCm39) R143* probably null Het
Med12 T A X: 100,321,695 (GRCm39) H459Q probably benign Het
Mmp3 T C 9: 7,450,149 (GRCm39) S294P probably benign Het
Muc6 T C 7: 141,234,349 (GRCm39) Y714C probably damaging Het
Myh2 T C 11: 67,074,349 (GRCm39) L662S probably damaging Het
Notch4 G T 17: 34,791,542 (GRCm39) C567F probably damaging Het
Nprl3 A G 11: 32,200,256 (GRCm39) I20T probably damaging Het
Or10ag2 A T 2: 87,248,587 (GRCm39) D65V possibly damaging Het
Pcdhb19 A G 18: 37,631,665 (GRCm39) T487A possibly damaging Het
Phlpp2 A G 8: 110,667,467 (GRCm39) E1332G probably benign Het
Pick1 T C 15: 79,125,481 (GRCm39) S113P probably damaging Het
Ptpru T C 4: 131,507,178 (GRCm39) E1023G probably damaging Het
Sf3b3 A C 8: 111,566,586 (GRCm39) V248G probably damaging Het
Smg5 T A 3: 88,253,759 (GRCm39) Y126* probably null Het
Spin1 T C 13: 51,281,973 (GRCm39) V22A probably benign Het
Stab1 C T 14: 30,872,220 (GRCm39) R1189Q possibly damaging Het
Sytl5 A G X: 9,829,939 (GRCm39) D538G probably damaging Het
Taar7e T A 10: 23,913,813 (GRCm39) M101K probably damaging Het
Taf4 A G 2: 179,576,847 (GRCm39) V578A probably damaging Het
Tmem266 G T 9: 55,344,517 (GRCm39) C383F probably benign Het
Trim34a T C 7: 103,910,140 (GRCm39) probably null Het
Vmn2r104 T C 17: 20,249,866 (GRCm39) T802A probably damaging Het
Vmn2r32 A C 7: 7,467,029 (GRCm39) I833S probably damaging Het
Vmn2r85 T C 10: 130,262,328 (GRCm39) D137G probably benign Het
Vps13c C T 9: 67,853,308 (GRCm39) S2467L probably benign Het
Other mutations in Rspry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rspry1 APN 8 95,349,608 (GRCm39) intron probably benign
IGL00158:Rspry1 APN 8 95,349,614 (GRCm39) start codon destroyed probably null 0.89
IGL01141:Rspry1 APN 8 95,376,483 (GRCm39) missense probably benign 0.00
IGL01860:Rspry1 APN 8 95,376,444 (GRCm39) missense probably benign 0.00
IGL02174:Rspry1 APN 8 95,359,768 (GRCm39) missense possibly damaging 0.84
IGL02819:Rspry1 APN 8 95,380,884 (GRCm39) missense probably benign 0.42
IGL02926:Rspry1 APN 8 95,376,439 (GRCm39) missense probably damaging 1.00
R0570:Rspry1 UTSW 8 95,356,420 (GRCm39) missense probably damaging 1.00
R1833:Rspry1 UTSW 8 95,362,116 (GRCm39) missense probably damaging 1.00
R1988:Rspry1 UTSW 8 95,358,682 (GRCm39) critical splice acceptor site probably null
R2444:Rspry1 UTSW 8 95,349,735 (GRCm39) missense probably damaging 1.00
R3623:Rspry1 UTSW 8 95,376,405 (GRCm39) missense probably damaging 1.00
R3624:Rspry1 UTSW 8 95,376,405 (GRCm39) missense probably damaging 1.00
R4275:Rspry1 UTSW 8 95,376,389 (GRCm39) missense probably benign 0.00
R4888:Rspry1 UTSW 8 95,385,417 (GRCm39) missense probably benign 0.19
R5026:Rspry1 UTSW 8 95,376,931 (GRCm39) missense probably damaging 1.00
R5310:Rspry1 UTSW 8 95,349,813 (GRCm39) missense probably benign
R5374:Rspry1 UTSW 8 95,380,892 (GRCm39) missense probably benign 0.38
R5374:Rspry1 UTSW 8 95,349,636 (GRCm39) missense probably benign 0.00
R5387:Rspry1 UTSW 8 95,364,914 (GRCm39) missense possibly damaging 0.95
R5517:Rspry1 UTSW 8 95,363,388 (GRCm39) splice site probably null
R5631:Rspry1 UTSW 8 95,355,706 (GRCm39) start codon destroyed possibly damaging 0.79
R5653:Rspry1 UTSW 8 95,363,239 (GRCm39) splice site probably null
R6065:Rspry1 UTSW 8 95,349,615 (GRCm39) start codon destroyed probably null 0.98
R6220:Rspry1 UTSW 8 95,385,378 (GRCm39) missense probably damaging 1.00
R6276:Rspry1 UTSW 8 95,349,886 (GRCm39) missense probably damaging 1.00
R6821:Rspry1 UTSW 8 95,362,059 (GRCm39) nonsense probably null
R7390:Rspry1 UTSW 8 95,349,813 (GRCm39) missense probably benign
R7460:Rspry1 UTSW 8 95,376,963 (GRCm39) missense probably benign 0.00
R7644:Rspry1 UTSW 8 95,385,396 (GRCm39) missense probably benign 0.00
R7717:Rspry1 UTSW 8 95,349,750 (GRCm39) missense probably damaging 1.00
R7768:Rspry1 UTSW 8 95,356,469 (GRCm39) missense probably damaging 1.00
R7940:Rspry1 UTSW 8 95,349,635 (GRCm39) missense probably benign 0.22
R7978:Rspry1 UTSW 8 95,349,753 (GRCm39) missense probably damaging 0.98
R8087:Rspry1 UTSW 8 95,380,925 (GRCm39) missense probably benign 0.04
R8174:Rspry1 UTSW 8 95,376,450 (GRCm39) missense probably damaging 0.97
R8326:Rspry1 UTSW 8 95,366,217 (GRCm39) missense probably damaging 1.00
R8676:Rspry1 UTSW 8 95,358,747 (GRCm39) missense probably benign 0.01
R8715:Rspry1 UTSW 8 95,349,888 (GRCm39) missense probably damaging 0.98
R8869:Rspry1 UTSW 8 95,359,780 (GRCm39) missense probably damaging 0.97
R9253:Rspry1 UTSW 8 95,349,621 (GRCm39) missense probably damaging 1.00
R9281:Rspry1 UTSW 8 95,363,259 (GRCm39) missense probably damaging 1.00
R9699:Rspry1 UTSW 8 95,380,857 (GRCm39) missense probably benign 0.01
X0010:Rspry1 UTSW 8 95,356,429 (GRCm39) missense possibly damaging 0.76
Posted On 2016-08-02