Incidental Mutation 'R6220:Rspry1'
ID 503952
Institutional Source Beutler Lab
Gene Symbol Rspry1
Ensembl Gene ENSMUSG00000050079
Gene Name ring finger and SPRY domain containing 1
Synonyms 4930470D19Rik
MMRRC Submission 044352-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.456) question?
Stock # R6220 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 94601937-94660275 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94658750 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 437 (C437R)
Ref Sequence ENSEMBL: ENSMUSP00000148724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000211983] [ENSMUST00000212729]
AlphaFold Q8BVR6
Predicted Effect probably damaging
Transcript: ENSMUST00000060389
AA Change: C561R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: C561R

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 damaging
Transcript: ENSMUST00000211983
AA Change: C561R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212729
AA Change: C437R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
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
9130011E15Rik T C 19: 45,846,115 (GRCm38) E618G possibly damaging Het
Abhd16b A G 2: 181,493,785 (GRCm38) D160G probably damaging Het
Acap1 A G 11: 69,889,679 (GRCm38) F15S probably damaging Het
Adam30 A T 3: 98,161,309 (GRCm38) S153C probably damaging Het
Afp A T 5: 90,504,410 (GRCm38) D420V possibly damaging Het
Ak9 T A 10: 41,370,099 (GRCm38) H729Q unknown Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
Bcr A G 10: 75,062,292 (GRCm38) T423A probably benign Het
Cc2d1b C T 4: 108,633,225 (GRCm38) R825W probably damaging Het
Ctns T C 11: 73,193,128 (GRCm38) T23A probably benign Het
Ddx54 T A 5: 120,620,689 (GRCm38) N332K probably benign Het
Dysf T A 6: 84,149,745 (GRCm38) I1344N probably damaging Het
Elovl3 A T 19: 46,134,500 (GRCm38) M172L probably benign Het
Fbxo6 A T 4: 148,149,522 (GRCm38) I39N probably damaging Het
Filip1l T A 16: 57,569,989 (GRCm38) N313K probably benign Het
Foxp2 C A 6: 15,437,948 (GRCm38) T716K probably damaging Het
Gm10549 C A 18: 33,464,305 (GRCm38) probably benign Het
Gm10645 A G 8: 83,165,757 (GRCm38) probably benign Het
Gm10735 T C 13: 113,041,496 (GRCm38) probably benign Het
Gm4847 A T 1: 166,634,972 (GRCm38) D316E probably damaging Het
Gorasp2 T C 2: 70,690,790 (GRCm38) L388P probably damaging Het
Heatr5b A G 17: 78,773,677 (GRCm38) L1382P probably damaging Het
Herc1 A G 9: 66,433,788 (GRCm38) Y1729C probably damaging Het
Ifi207 A T 1: 173,729,546 (GRCm38) L542H probably damaging Het
Ighv3-5 T A 12: 114,262,718 (GRCm38) N96I probably damaging Het
Isl1 T C 13: 116,303,267 (GRCm38) T182A probably benign Het
Jph4 T C 14: 55,110,085 (GRCm38) E421G probably benign Het
Lrrc45 T C 11: 120,719,527 (GRCm38) I488T probably benign Het
Mroh8 A G 2: 157,233,163 (GRCm38) I471T probably benign Het
Ms4a2 A T 19: 11,617,563 (GRCm38) D96E probably damaging Het
Mst1r T A 9: 107,907,348 (GRCm38) N68K probably benign Het
Myo18b A G 5: 112,757,507 (GRCm38) M2075T possibly damaging Het
Neb T C 2: 52,270,972 (GRCm38) K2229R probably null Het
Nkx6-3 T A 8: 23,153,971 (GRCm38) probably null Het
Nlrp1a C A 11: 71,142,338 (GRCm38) S10I probably benign Het
Npas2 A T 1: 39,336,061 (GRCm38) T487S probably benign Het
Nrxn1 G C 17: 91,088,476 (GRCm38) T84R probably benign Het
Olfr730 C A 14: 50,186,678 (GRCm38) D180Y probably damaging Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Pcdh18 A G 3: 49,745,251 (GRCm38) C921R probably damaging Het
Pcdha9 A G 18: 36,998,478 (GRCm38) Y200C probably damaging Het
Pknox1 A T 17: 31,603,203 (GRCm38) R315* probably null Het
Rasgrp1 C T 2: 117,284,929 (GRCm38) W726* probably null Het
Rassf8 G A 6: 145,817,133 (GRCm38) R402H probably damaging Het
Rev3l T A 10: 39,822,779 (GRCm38) Y1091N probably damaging Het
Riok3 T G 18: 12,149,551 (GRCm38) V349G probably damaging Het
Rps18 A T 17: 33,955,136 (GRCm38) V15E probably damaging Het
Rptor A T 11: 119,897,442 (GRCm38) Y1323F possibly damaging Het
Sema5a T A 15: 32,686,729 (GRCm38) Y996N probably damaging Het
Smarcad1 A G 6: 65,114,329 (GRCm38) I1011M probably benign Het
Supv3l1 A T 10: 62,439,021 (GRCm38) M295K possibly damaging Het
Sv2c T C 13: 95,976,626 (GRCm38) D605G probably damaging Het
Teddm1b G A 1: 153,875,201 (GRCm38) W252* probably null Het
Tes T A 6: 17,086,196 (GRCm38) C29* probably null Het
Thsd4 A G 9: 59,982,747 (GRCm38) W856R probably damaging Het
Treml4 A T 17: 48,264,848 (GRCm38) D93V possibly damaging Het
Trim66 T C 7: 109,483,093 (GRCm38) T218A probably damaging Het
Tssk5 T C 15: 76,373,773 (GRCm38) D128G probably damaging Het
Ubr3 T A 2: 70,020,475 (GRCm38) W1746R probably damaging Het
Vmn2r11 T C 5: 109,053,568 (GRCm38) I357V probably benign Het
Vmn2r87 A T 10: 130,479,938 (GRCm38) D86E probably benign Het
Zfp184 T G 13: 21,960,207 (GRCm38) H694Q probably damaging Het
Zranb3 A C 1: 127,999,404 (GRCm38) F341L probably benign Het
Other mutations in Rspry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rspry1 APN 8 94,622,980 (GRCm38) intron probably benign
IGL00158:Rspry1 APN 8 94,622,986 (GRCm38) start codon destroyed probably null 0.89
IGL01141:Rspry1 APN 8 94,649,855 (GRCm38) missense probably benign 0.00
IGL01860:Rspry1 APN 8 94,649,816 (GRCm38) missense probably benign 0.00
IGL02174:Rspry1 APN 8 94,633,140 (GRCm38) missense possibly damaging 0.84
IGL02819:Rspry1 APN 8 94,654,256 (GRCm38) missense probably benign 0.42
IGL02926:Rspry1 APN 8 94,649,811 (GRCm38) missense probably damaging 1.00
IGL03366:Rspry1 APN 8 94,650,334 (GRCm38) missense probably benign 0.00
R0570:Rspry1 UTSW 8 94,629,792 (GRCm38) missense probably damaging 1.00
R1833:Rspry1 UTSW 8 94,635,488 (GRCm38) missense probably damaging 1.00
R1988:Rspry1 UTSW 8 94,632,054 (GRCm38) critical splice acceptor site probably null
R2444:Rspry1 UTSW 8 94,623,107 (GRCm38) missense probably damaging 1.00
R3623:Rspry1 UTSW 8 94,649,777 (GRCm38) missense probably damaging 1.00
R3624:Rspry1 UTSW 8 94,649,777 (GRCm38) missense probably damaging 1.00
R4275:Rspry1 UTSW 8 94,649,761 (GRCm38) missense probably benign 0.00
R4888:Rspry1 UTSW 8 94,658,789 (GRCm38) missense probably benign 0.19
R5026:Rspry1 UTSW 8 94,650,303 (GRCm38) missense probably damaging 1.00
R5310:Rspry1 UTSW 8 94,623,185 (GRCm38) missense probably benign
R5374:Rspry1 UTSW 8 94,654,264 (GRCm38) missense probably benign 0.38
R5374:Rspry1 UTSW 8 94,623,008 (GRCm38) missense probably benign 0.00
R5387:Rspry1 UTSW 8 94,638,286 (GRCm38) missense possibly damaging 0.95
R5517:Rspry1 UTSW 8 94,636,760 (GRCm38) splice site probably null
R5631:Rspry1 UTSW 8 94,629,078 (GRCm38) start codon destroyed possibly damaging 0.79
R5653:Rspry1 UTSW 8 94,636,611 (GRCm38) splice site probably null
R6065:Rspry1 UTSW 8 94,622,987 (GRCm38) start codon destroyed probably null 0.98
R6276:Rspry1 UTSW 8 94,623,258 (GRCm38) missense probably damaging 1.00
R6821:Rspry1 UTSW 8 94,635,431 (GRCm38) nonsense probably null
R7390:Rspry1 UTSW 8 94,623,185 (GRCm38) missense probably benign
R7460:Rspry1 UTSW 8 94,650,335 (GRCm38) missense probably benign 0.00
R7644:Rspry1 UTSW 8 94,658,768 (GRCm38) missense probably benign 0.00
R7717:Rspry1 UTSW 8 94,623,122 (GRCm38) missense probably damaging 1.00
R7768:Rspry1 UTSW 8 94,629,841 (GRCm38) missense probably damaging 1.00
R7940:Rspry1 UTSW 8 94,623,007 (GRCm38) missense probably benign 0.22
R7978:Rspry1 UTSW 8 94,623,125 (GRCm38) missense probably damaging 0.98
R8087:Rspry1 UTSW 8 94,654,297 (GRCm38) missense probably benign 0.04
R8174:Rspry1 UTSW 8 94,649,822 (GRCm38) missense probably damaging 0.97
R8326:Rspry1 UTSW 8 94,639,589 (GRCm38) missense probably damaging 1.00
R8676:Rspry1 UTSW 8 94,632,119 (GRCm38) missense probably benign 0.01
R8715:Rspry1 UTSW 8 94,623,260 (GRCm38) missense probably damaging 0.98
R8869:Rspry1 UTSW 8 94,633,152 (GRCm38) missense probably damaging 0.97
R9253:Rspry1 UTSW 8 94,622,993 (GRCm38) missense probably damaging 1.00
R9281:Rspry1 UTSW 8 94,636,631 (GRCm38) missense probably damaging 1.00
R9699:Rspry1 UTSW 8 94,654,229 (GRCm38) missense probably benign 0.01
X0010:Rspry1 UTSW 8 94,629,801 (GRCm38) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- AACAACTTCTTTAGCCTACAGAGG -3'
(R):5'- TGGCCATGGCTATAAGTTTCAATG -3'

Sequencing Primer
(F):5'- GGAGGAGGATTAAAGATAAAAATGGG -3'
(R):5'- CATTGGCTGGAATTGAGTA -3'
Posted On 2018-02-27