Incidental Mutation 'IGL00158:Rspry1'
ID 27964
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 # IGL00158
Quality Score
Status
Chromosome 8
Chromosomal Location 95328569-95386905 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 95349608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000121101] [ENSMUST00000211983] [ENSMUST00000212729]
AlphaFold Q8BVR6
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
Abhd3 T A 18: 10,647,869 (GRCm39) D300V possibly damaging Het
Agap1 A G 1: 89,591,518 (GRCm39) probably benign Het
Best3 A G 10: 116,840,446 (GRCm39) probably benign Het
Cfap43 T G 19: 47,818,914 (GRCm39) I125L probably benign Het
Cntn1 A G 15: 92,148,758 (GRCm39) E335G possibly damaging Het
Csmd3 A T 15: 48,150,891 (GRCm39) S396T possibly damaging Het
Cxxc5 T G 18: 35,993,745 (GRCm39) *318G probably null Het
Dpep3 T C 8: 106,705,779 (GRCm39) T49A probably benign Het
Elf1 T A 14: 79,817,789 (GRCm39) M436K possibly damaging Het
Ephx2 T G 14: 66,330,286 (GRCm39) I310L probably benign Het
Fancm A G 12: 65,122,510 (GRCm39) T11A possibly damaging Het
Ganab G T 19: 8,879,959 (GRCm39) A73S probably benign Het
Glp1r T G 17: 31,120,891 (GRCm39) L14R possibly damaging Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Krtap9-1 C T 11: 99,764,680 (GRCm39) P139S unknown Het
L2hgdh T C 12: 69,748,208 (GRCm39) D306G possibly damaging Het
Liat1 T C 11: 75,894,192 (GRCm39) S190P probably benign Het
Lrriq4 A G 3: 30,705,104 (GRCm39) probably null Het
Mbd3 T G 10: 80,229,717 (GRCm39) probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mug1 T C 6: 121,842,768 (GRCm39) S585P probably damaging Het
Nat8f4 C A 6: 85,877,969 (GRCm39) A185S probably benign Het
Nlrc5 C T 8: 95,228,839 (GRCm39) probably benign Het
Or8b12 T A 9: 37,657,685 (GRCm39) I85N possibly damaging Het
Or8g23 T A 9: 38,971,159 (GRCm39) M268L probably benign Het
Peg3 T A 7: 6,713,273 (GRCm39) I650F probably benign Het
Prom1 A T 5: 44,213,279 (GRCm39) N142K probably damaging Het
Qser1 T A 2: 104,596,401 (GRCm39) D1537V probably damaging Het
Rbm44 T A 1: 91,084,831 (GRCm39) D684E probably benign Het
Rnf19a A C 15: 36,265,948 (GRCm39) S50A probably damaging Het
Rnf31 A G 14: 55,829,776 (GRCm39) probably null Het
Sap130 C A 18: 31,831,819 (GRCm39) P769T probably benign Het
Slc22a16 T A 10: 40,471,278 (GRCm39) M483K probably damaging Het
Slc27a1 T C 8: 72,037,416 (GRCm39) probably null Het
Slc35a5 A T 16: 44,972,971 (GRCm39) C65* probably null Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Ubqlnl T C 7: 103,798,372 (GRCm39) E375G probably benign Het
Uggt2 G A 14: 119,286,688 (GRCm39) T692I possibly damaging Het
Vmn1r211 A T 13: 23,036,272 (GRCm39) C132S probably benign Het
Vmn2r61 A T 7: 41,950,175 (GRCm39) N865I possibly damaging Het
Vmn2r73 A T 7: 85,506,795 (GRCm39) M839K Het
Xrn2 T A 2: 146,878,670 (GRCm39) S455R probably benign Het
Zan T A 5: 137,452,519 (GRCm39) T1521S unknown Het
Zfp326 A G 5: 106,054,911 (GRCm39) M361V possibly damaging Het
Zfp472 A G 17: 33,196,498 (GRCm39) Y191C possibly damaging Het
Other mutations in Rspry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03366:Rspry1 APN 8 95,376,962 (GRCm39) missense probably benign 0.00
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 2013-04-17