Incidental Mutation 'IGL00158:Rspry1'
ID27964
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 #IGL00158
Quality Score
Status
Chromosome8
Chromosomal Location94601937-94660275 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to T at 94622980 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000121101] [ENSMUST00000211983] [ENSMUST00000212729]
Predicted Effect probably benign
Transcript: ENSMUST00000060389
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079

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 probably benign
Transcript: ENSMUST00000121101
SMART Domains Protein: ENSMUSP00000112482
Gene: ENSMUSG00000050079

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
Predicted Effect probably benign
Transcript: ENSMUST00000211983
Predicted Effect probably benign
Transcript: ENSMUST00000212729
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik T C 11: 76,003,366 S190P probably benign Het
Abhd3 T A 18: 10,647,869 D300V possibly damaging Het
Agap1 A G 1: 89,663,796 probably benign Het
Best3 A G 10: 117,004,541 probably benign Het
Cfap43 T G 19: 47,830,475 I125L probably benign Het
Cntn1 A G 15: 92,250,877 E335G possibly damaging Het
Csmd3 A T 15: 48,287,495 S396T possibly damaging Het
Cxxc5 T G 18: 35,860,692 *318G probably null Het
Dpep3 T C 8: 105,979,147 T49A probably benign Het
Elf1 T A 14: 79,580,349 M436K possibly damaging Het
Ephx2 T G 14: 66,092,837 I310L probably benign Het
Fancm A G 12: 65,075,736 T11A possibly damaging Het
Ganab G T 19: 8,902,595 A73S probably benign Het
Glp1r T G 17: 30,901,917 L14R possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Krtap9-1 C T 11: 99,873,854 P139S unknown Het
L2hgdh T C 12: 69,701,434 D306G possibly damaging Het
Lrriq4 A G 3: 30,650,955 probably null Het
Mbd3 T G 10: 80,393,883 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mug1 T C 6: 121,865,809 S585P probably damaging Het
Nat8f4 C A 6: 85,900,987 A185S probably benign Het
Nlrc5 C T 8: 94,502,211 probably benign Het
Olfr874 T A 9: 37,746,389 I85N possibly damaging Het
Olfr937 T A 9: 39,059,863 M268L probably benign Het
Peg3 T A 7: 6,710,274 I650F probably benign Het
Prom1 A T 5: 44,055,937 N142K probably damaging Het
Qser1 T A 2: 104,766,056 D1537V probably damaging Het
Rbm44 T A 1: 91,157,109 D684E probably benign Het
Rnf19a A C 15: 36,265,802 S50A probably damaging Het
Rnf31 A G 14: 55,592,319 probably null Het
Sap130 C A 18: 31,698,766 P769T probably benign Het
Slc22a16 T A 10: 40,595,282 M483K probably damaging Het
Slc27a1 T C 8: 71,584,772 probably null Het
Slc35a5 A T 16: 45,152,608 C65* probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Ubqlnl T C 7: 104,149,165 E375G probably benign Het
Uggt2 G A 14: 119,049,276 T692I possibly damaging Het
Vmn1r211 A T 13: 22,852,102 C132S probably benign Het
Vmn2r61 A T 7: 42,300,751 N865I possibly damaging Het
Vmn2r73 A T 7: 85,857,587 M839K probably benign Het
Xrn2 T A 2: 147,036,750 S455R probably benign Het
Zan T A 5: 137,454,257 T1521S unknown Het
Zfp326 A G 5: 105,907,045 M361V possibly damaging Het
Zfp472 A G 17: 32,977,524 Y191C possibly damaging Het
Other mutations in Rspry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rspry1 APN 8 94622986 start codon destroyed probably null 0.89
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
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
R8174:Rspry1 UTSW 8 94649822 missense probably damaging 0.97
X0010:Rspry1 UTSW 8 94629801 missense possibly damaging 0.76
Posted On2013-04-17