Incidental Mutation 'IGL02174:Rspry1'
ID 283039
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: 0.379) question?
Stock # IGL02174
Quality Score
Status
Chromosome 8
Chromosomal Location 95328569-95386905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95359768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 102 (I102M)
Ref Sequence ENSEMBL: ENSMUSP00000148724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000211983] [ENSMUST00000212729]
AlphaFold Q8BVR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000060389
AA Change: I226M

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: I226M

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: ENSMUST00000154035
Predicted Effect possibly damaging
Transcript: ENSMUST00000211983
AA Change: I226M

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212729
AA Change: I102M

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,738,154 (GRCm39) I1199V probably damaging Het
Adgrv1 G A 13: 81,575,783 (GRCm39) T4861I probably benign Het
Ampd2 T C 3: 107,987,601 (GRCm39) D108G probably damaging Het
Azin1 A G 15: 38,493,730 (GRCm39) F298L probably benign Het
Bag1 T A 4: 40,941,555 (GRCm39) E123D possibly damaging Het
Cabs1 A G 5: 88,128,339 (GRCm39) E330G probably benign Het
Ccdc33 T C 9: 57,940,938 (GRCm39) K435E probably benign Het
Clip2 T G 5: 134,523,118 (GRCm39) K943T probably damaging Het
Cmya5 T C 13: 93,185,415 (GRCm39) I3527V possibly damaging Het
Cyp2w1 C T 5: 139,341,384 (GRCm39) R244C probably benign Het
Dcaf13 C A 15: 39,001,544 (GRCm39) A284E probably damaging Het
Ddx31 T A 2: 28,749,041 (GRCm39) L279Q probably damaging Het
Dgki A G 6: 37,009,856 (GRCm39) L497P probably damaging Het
Dnah12 A T 14: 26,428,072 (GRCm39) I233F probably benign Het
Dpp6 G T 5: 27,926,085 (GRCm39) G720* probably null Het
Emc1 T C 4: 139,098,979 (GRCm39) Y821H possibly damaging Het
Esr1 C T 10: 4,948,003 (GRCm39) R519W probably damaging Het
Gamt A T 10: 80,094,230 (GRCm39) V227E possibly damaging Het
Habp2 A G 19: 56,300,169 (GRCm39) Q206R probably damaging Het
Ihh A G 1: 74,990,105 (GRCm39) I90T probably damaging Het
Kif20b T C 19: 34,911,858 (GRCm39) probably benign Het
Lcp2 T C 11: 34,000,966 (GRCm39) probably benign Het
Lyrm2 A G 4: 32,800,649 (GRCm39) I29V probably benign Het
Macf1 T C 4: 123,385,587 (GRCm39) D1168G probably damaging Het
Mocos T C 18: 24,828,953 (GRCm39) S753P probably benign Het
Myo3a A G 2: 22,337,204 (GRCm39) E367G probably benign Het
Ndor1 G A 2: 25,139,206 (GRCm39) A255V possibly damaging Het
Nfat5 C T 8: 108,065,683 (GRCm39) P148S probably damaging Het
Or4c121 A T 2: 89,023,712 (GRCm39) F222Y probably benign Het
Or5al7 T A 2: 85,992,442 (GRCm39) M284L possibly damaging Het
Or6z7 T C 7: 6,483,438 (GRCm39) Y239C probably benign Het
Or8b41 A T 9: 38,055,081 (GRCm39) T217S possibly damaging Het
Pappa2 C T 1: 158,589,188 (GRCm39) C1679Y probably damaging Het
Pcdhb2 T A 18: 37,429,551 (GRCm39) I508N probably damaging Het
Pkd2l1 G A 19: 44,145,707 (GRCm39) T172I probably benign Het
Pld5 A G 1: 176,102,310 (GRCm39) V44A possibly damaging Het
Prss44 T C 9: 110,646,199 (GRCm39) W309R probably damaging Het
Rc3h2 A T 2: 37,301,237 (GRCm39) N88K probably benign Het
Stab2 A G 10: 86,695,606 (GRCm39) probably null Het
Tbx3 C A 5: 119,813,649 (GRCm39) Y228* probably null Het
Tcf15 G T 2: 151,986,065 (GRCm39) probably benign Het
Tmem41b A G 7: 109,578,003 (GRCm39) S94P possibly damaging Het
Trmt10b A T 4: 45,308,508 (GRCm39) I223F possibly damaging Het
Tyrp1 G T 4: 80,763,063 (GRCm39) G317* probably null Het
Urod T A 4: 116,847,479 (GRCm39) probably benign Het
Vwf G T 6: 125,532,358 (GRCm39) R52L probably damaging Het
Wnk2 C A 13: 49,210,643 (GRCm39) Q232H probably damaging Het
Zbtb10 C A 3: 9,316,872 (GRCm39) P228Q probably damaging Het
Zfp764l1 G A 7: 126,991,525 (GRCm39) T154I possibly damaging 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
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 2015-04-16