Incidental Mutation 'IGL03366:Rspry1'
ID420084
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 essential (E-score: 0.503) question?
Stock #IGL03366
Quality Score
Status
Chromosome8
Chromosomal Location94601937-94660275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 94650334 bp
ZygosityHeterozygous
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]
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: 141,629,273 S793T probably benign Het
Btnl6 T C 17: 34,508,179 D459G probably damaging Het
Cacna1g C A 11: 94,457,151 D704Y probably damaging Het
Cry2 A G 2: 92,413,715 I371T probably damaging Het
Dock3 A T 9: 107,005,433 F384I probably benign Het
Dpp4 T C 2: 62,356,957 probably null Het
Hecw1 G T 13: 14,377,797 D72E probably damaging Het
Htt T A 5: 34,907,580 W3046R probably damaging Het
Hydin A T 8: 110,267,363 N10Y unknown Het
Ighv8-8 T A 12: 115,294,140 T94S probably benign Het
Igkv4-58 A G 6: 69,500,554 S20P probably damaging Het
Il4i1 T C 7: 44,837,495 probably benign Het
Kif13a A T 13: 46,764,623 S403T probably benign Het
Klhl40 T C 9: 121,783,380 L616P probably damaging Het
Krt7 T C 15: 101,427,610 L440P possibly damaging Het
Lpin1 A G 12: 16,544,677 L755P probably damaging Het
Magee2 C A X: 104,855,528 E506* probably null Het
Mast3 G A 8: 70,781,563 R143* probably null Het
Med12 T A X: 101,278,089 H459Q probably benign Het
Mmp3 T C 9: 7,450,149 S294P probably benign Het
Muc6 T C 7: 141,648,082 Y714C probably damaging Het
Myh2 T C 11: 67,183,523 L662S probably damaging Het
Notch4 G T 17: 34,572,568 C567F probably damaging Het
Nprl3 A G 11: 32,250,256 I20T probably damaging Het
Olfr1123 A T 2: 87,418,243 D65V possibly damaging Het
Pcdhb19 A G 18: 37,498,612 T487A possibly damaging Het
Phlpp2 A G 8: 109,940,835 E1332G probably benign Het
Pick1 T C 15: 79,241,281 S113P probably damaging Het
Ptpru T C 4: 131,779,867 E1023G probably damaging Het
Sf3b3 A C 8: 110,839,954 V248G probably damaging Het
Smg5 T A 3: 88,346,452 Y126* probably null Het
Spert A G 14: 75,583,389 S299P probably benign Het
Spin1 T C 13: 51,127,937 V22A probably benign Het
Stab1 C T 14: 31,150,263 R1189Q possibly damaging Het
Sytl5 A G X: 9,963,700 D538G probably damaging Het
Taar7e T A 10: 24,037,915 M101K probably damaging Het
Taf4 A G 2: 179,935,054 V578A probably damaging Het
Tmem266 G T 9: 55,437,233 C383F probably benign Het
Trim34a T C 7: 104,260,933 probably null Het
Vmn2r104 T C 17: 20,029,604 T802A probably damaging Het
Vmn2r32 A C 7: 7,464,030 I833S probably damaging Het
Vmn2r85 T C 10: 130,426,459 D137G probably benign Het
Vps13c C T 9: 67,946,026 S2467L probably benign 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
IGL01860:Rspry1 APN 8 94649816 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
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
R8174:Rspry1 UTSW 8 94649822 missense probably damaging 0.97
X0010:Rspry1 UTSW 8 94629801 missense possibly damaging 0.76
Posted On2016-08-02