Incidental Mutation 'R7460:Rspry1'
ID 578388
Institutional Source Beutler Lab
Gene Symbol Rspry1
Ensembl Gene ENSMUSG00000050079
Gene Name ring finger and SPRY domain containing 1
Synonyms 4930470D19Rik
MMRRC Submission 045534-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R7460 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 95328569-95386905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95376963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 506 (I506T)
Ref Sequence ENSEMBL: ENSMUSP00000057275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000211983] [ENSMUST00000212729]
AlphaFold Q8BVR6
Predicted Effect probably benign
Transcript: ENSMUST00000060389
AA Change: I506T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: I506T

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: ENSMUST00000211983
AA Change: I506T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000212729
AA Change: I382T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 T A 1: 60,473,466 (GRCm39) V61D probably damaging Het
Agrn C A 4: 156,258,881 (GRCm39) V915L probably damaging Het
Arhgap24 T C 5: 103,040,212 (GRCm39) V476A probably benign Het
Arhgef15 A G 11: 68,837,861 (GRCm39) L720P probably damaging Het
Atad2b C A 12: 5,002,660 (GRCm39) R343S probably benign Het
Atxn3 T A 12: 101,892,776 (GRCm39) T313S probably benign Het
BC051665 T C 13: 60,932,457 (GRCm39) E76G probably benign Het
Birc2 A T 9: 7,818,762 (GRCm39) F610I probably damaging Het
Cdh16 A T 8: 105,348,923 (GRCm39) V58D possibly damaging Het
Cenpf T C 1: 189,386,247 (GRCm39) D2011G probably damaging Het
Ddb1 T C 19: 10,585,275 (GRCm39) probably null Het
Ddx1 A G 12: 13,281,440 (GRCm39) probably null Het
Disp2 A G 2: 118,620,261 (GRCm39) H331R probably damaging Het
Dmxl1 A G 18: 50,011,679 (GRCm39) T1279A probably benign Het
Dync1i2 T C 2: 71,081,230 (GRCm39) I473T probably damaging Het
Fam114a1 T G 5: 65,196,050 (GRCm39) V520G possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat2 T A 11: 55,169,789 (GRCm39) D2990V probably damaging Het
Fbh1 C T 2: 11,761,496 (GRCm39) G597D probably benign Het
Fdxr A C 11: 115,167,680 (GRCm39) S12A probably benign Het
Fgf14 T A 14: 124,914,105 (GRCm39) R9W possibly damaging Het
Gnat3 A T 5: 18,204,656 (GRCm39) D103V Het
Hepacam2 G A 6: 3,487,199 (GRCm39) P53S probably benign Het
Inhca T C 9: 103,131,847 (GRCm39) N625D probably benign Het
Jmjd1c A G 10: 67,052,815 (GRCm39) T21A probably benign Het
Lama1 T C 17: 68,074,013 (GRCm39) C930R Het
Lrp1b T C 2: 40,488,478 (GRCm39) T4536A Het
Lrrc27 T A 7: 138,803,574 (GRCm39) V166E probably damaging Het
Mapk10 C T 5: 103,186,443 (GRCm39) V90I probably benign Het
Mfsd14b C T 13: 65,219,837 (GRCm39) G339D probably damaging Het
Mnt T A 11: 74,734,109 (GRCm39) M580K unknown Het
Mrc1 T C 2: 14,253,680 (GRCm39) S234P probably damaging Het
Mrps5 G A 2: 127,433,811 (GRCm39) V75I not run Het
Mrtfb G T 16: 13,218,840 (GRCm39) Q495H probably benign Het
Myo10 A G 15: 25,807,913 (GRCm39) D1845G probably damaging Het
Or3a1c A T 11: 74,046,672 (GRCm39) I231F probably damaging Het
Or51a25 A T 7: 102,373,028 (GRCm39) M223K probably benign Het
Or7a40 C A 16: 16,491,030 (GRCm39) A272S possibly damaging Het
Or8b3 T C 9: 38,314,649 (GRCm39) S160P possibly damaging Het
Pdhx G A 2: 102,877,124 (GRCm39) T95M probably damaging Het
Pigb C T 9: 72,945,957 (GRCm39) V72I probably damaging Het
Prr7 C A 13: 55,620,166 (GRCm39) P110Q unknown Het
Psg22 A G 7: 18,458,329 (GRCm39) D340G probably benign Het
Ptprn2 T C 12: 117,212,301 (GRCm39) S908P probably benign Het
Ros1 T C 10: 51,994,299 (GRCm39) Y1348C probably damaging Het
Ryr2 T A 13: 11,720,596 (GRCm39) Y2684F probably benign Het
Sdr16c6 A G 4: 4,076,575 (GRCm39) probably null Het
Senp7 A G 16: 55,993,545 (GRCm39) T743A possibly damaging Het
Slc6a20b T C 9: 123,434,014 (GRCm39) I275V probably benign Het
Slc6a7 A G 18: 61,134,674 (GRCm39) I467T probably benign Het
Tacc2 A G 7: 130,226,363 (GRCm39) D1016G probably benign Het
Thsd7a A G 6: 12,554,933 (GRCm39) V317A Het
Tle3 A G 9: 61,320,366 (GRCm39) H598R probably damaging Het
Tmem102 A G 11: 69,694,949 (GRCm39) L341P probably damaging Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Trappc14 G A 5: 138,260,991 (GRCm39) T218M probably benign Het
Trhde T A 10: 114,249,168 (GRCm39) D866V probably damaging Het
Ttn A G 2: 76,581,617 (GRCm39) I23092T probably damaging Het
U2surp C A 9: 95,344,877 (GRCm39) V944L unknown Het
Urgcp T C 11: 5,666,622 (GRCm39) H615R possibly damaging Het
Vps45 T A 3: 95,955,699 (GRCm39) Y97F probably benign Het
Zc3h12c T C 9: 52,055,402 (GRCm39) T136A probably benign Het
Zfp948 A T 17: 21,808,677 (GRCm39) H623L probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TCAAAACGACTCTGTGTATGACTTGG -3'
(R):5'- TGTATGACTCTTTCTGAGACCTG -3'

Sequencing Primer
(F):5'- GGTTTTATAAGCTCTACTGACCTCTG -3'
(R):5'- ATGACTCTTTCTGAGACCTGTTTTAC -3'
Posted On 2019-10-07