Incidental Mutation 'R1833:Rspry1'
ID 204959
Institutional Source Beutler Lab
Gene Symbol Rspry1
Ensembl Gene ENSMUSG00000050079
Gene Name ring finger and SPRY domain containing 1
Synonyms 4930470D19Rik
MMRRC Submission 039860-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.456) question?
Stock # R1833 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 94601937-94660275 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94635488 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 132 (T132A)
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: T256A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: T256A

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 probably damaging
Transcript: ENSMUST00000211983
AA Change: T256A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000212729
AA Change: T132A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 99% (83/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,556,860 (GRCm38) D143V unknown Het
4930438A08Rik C T 11: 58,288,388 (GRCm38) Q183* probably null Het
9230009I02Rik A G 11: 51,091,466 (GRCm38) noncoding transcript Het
Abhd12 T A 2: 150,848,418 (GRCm38) D119V probably damaging Het
Adam1b A G 5: 121,502,937 (GRCm38) I15T possibly damaging Het
Agtpbp1 A T 13: 59,465,983 (GRCm38) probably null Het
Arfgef1 G C 1: 10,204,890 (GRCm38) I312M probably benign Het
Arid4a C T 12: 71,075,466 (GRCm38) L874F possibly damaging Het
Bcas3 G A 11: 85,583,949 (GRCm38) V317I probably benign Het
Ccr1 T A 9: 123,964,089 (GRCm38) I135F probably damaging Het
Ces2h A G 8: 105,020,373 (GRCm38) E547G possibly damaging Het
Ces3b T A 8: 105,085,639 (GRCm38) D173E probably damaging Het
Chd3 A G 11: 69,354,123 (GRCm38) L1197S probably damaging Het
Cngb1 A G 8: 95,242,355 (GRCm38) L1175P probably damaging Het
Cyp4f17 T C 17: 32,524,210 (GRCm38) F286L probably benign Het
Dclre1a C T 19: 56,541,500 (GRCm38) probably null Het
Dennd6a T A 14: 26,606,954 (GRCm38) L44H probably damaging Het
Dhx16 A G 17: 35,885,619 (GRCm38) T560A probably benign Het
Dusp12 T C 1: 170,874,453 (GRCm38) M326V probably benign Het
Eif3k T C 7: 28,971,427 (GRCm38) I180V probably benign Het
Erc1 A G 6: 119,743,429 (GRCm38) I437T possibly damaging Het
Fam71d G A 12: 78,715,506 (GRCm38) probably benign Het
Farp2 T A 1: 93,576,364 (GRCm38) probably benign Het
Foxa3 A G 7: 19,014,574 (GRCm38) L209P probably damaging Het
Gen1 A T 12: 11,248,351 (GRCm38) probably benign Het
Gm10305 A G 4: 99,273,126 (GRCm38) T91A unknown Het
Gm10436 T C 12: 88,178,448 (GRCm38) E44G possibly damaging Het
Gm14412 T C 2: 177,315,790 (GRCm38) D104G probably benign Het
Gm340 T C 19: 41,584,948 (GRCm38) I714T probably benign Het
Gm6900 T C 7: 10,656,588 (GRCm38) noncoding transcript Het
Gpx1 A T 9: 108,339,356 (GRCm38) Y15F possibly damaging Het
H2-M10.3 T C 17: 36,367,495 (GRCm38) Y146C probably damaging Het
H2-Q7 C A 17: 35,439,699 (GRCm38) S104R probably benign Het
Hephl1 T C 9: 15,076,928 (GRCm38) Y628C probably damaging Het
Hspa5 T A 2: 34,776,053 (GRCm38) Y636* probably null Het
Htt A G 5: 34,905,748 (GRCm38) probably benign Het
Idh1 T C 1: 65,161,114 (GRCm38) I364V probably benign Het
Itgae G T 11: 73,117,162 (GRCm38) A423S possibly damaging Het
Kng2 T C 16: 23,012,052 (GRCm38) N169S possibly damaging Het
Larp4b C T 13: 9,151,199 (GRCm38) T369I possibly damaging Het
Lonrf2 G A 1: 38,813,276 (GRCm38) P165S probably benign Het
Magi2 G T 5: 19,227,457 (GRCm38) G57C probably damaging Het
Mdn1 T A 4: 32,720,761 (GRCm38) H2291Q probably damaging Het
Mgam T C 6: 40,654,718 (GRCm38) probably null Het
Micall2 A G 5: 139,716,753 (GRCm38) V245A probably benign Het
Mipep T G 14: 60,872,063 (GRCm38) Y630D probably damaging Het
Msx2 A T 13: 53,468,185 (GRCm38) M263K probably damaging Het
Nectin2 G T 7: 19,717,708 (GRCm38) P467H probably damaging Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nlrp4b A T 7: 10,725,936 (GRCm38) M455L probably benign Het
Oaz3 TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG TGGAGGCAGGAGCACGGGAGGCAG 3: 94,436,042 (GRCm38) probably benign Het
Olfr1258 T A 2: 89,930,301 (GRCm38) L164* probably null Het
Olfr286 T A 15: 98,226,965 (GRCm38) I227F probably damaging Het
Pcx T A 19: 4,619,104 (GRCm38) V710E probably damaging Het
Pkn2 C T 3: 142,821,647 (GRCm38) R347Q probably damaging Het
Qsox1 C T 1: 155,791,045 (GRCm38) G233S probably benign Het
Rbl1 T A 2: 157,195,555 (GRCm38) N224I probably damaging Het
Sclt1 A G 3: 41,727,111 (GRCm38) V91A probably damaging Het
Sema4f A T 6: 82,918,559 (GRCm38) L331H probably benign Het
Sf3b3 T A 8: 110,817,566 (GRCm38) Q814L probably benign Het
Slc19a2 T G 1: 164,262,184 (GRCm38) Y190D probably damaging Het
Smarcc1 T A 9: 110,153,811 (GRCm38) H204Q possibly damaging Het
Sox6 T C 7: 115,777,093 (GRCm38) K135E probably damaging Het
Tecpr1 T C 5: 144,208,608 (GRCm38) Q607R probably damaging Het
Tgfb1i1 A G 7: 128,249,498 (GRCm38) probably benign Het
Tirap T G 9: 35,188,703 (GRCm38) R228S probably benign Het
Tmem211 A G 5: 113,234,569 (GRCm38) probably benign Het
Trp53bp2 T A 1: 182,429,016 (GRCm38) H50Q probably damaging Het
Try4 A G 6: 41,303,431 (GRCm38) H63R probably damaging Het
Vmn2r25 G A 6: 123,839,684 (GRCm38) P313S probably benign Het
Vps26a A C 10: 62,459,046 (GRCm38) L250V probably benign Het
Vwf A G 6: 125,642,037 (GRCm38) H1226R probably benign Het
Wdtc1 TCC TC 4: 133,308,742 (GRCm38) probably benign Het
Zc3hav1l A T 6: 38,297,946 (GRCm38) probably benign Het
Zfp119b T G 17: 55,939,271 (GRCm38) H305P probably damaging Het
Zfp326 C T 5: 105,891,169 (GRCm38) Q134* probably null Het
Zfp975 C T 7: 42,661,839 (GRCm38) R450Q probably benign Het
Zfyve26 A T 12: 79,286,258 (GRCm38) M313K probably benign Het
Zscan5b T C 7: 6,238,966 (GRCm38) S395P possibly damaging 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
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
R6220:Rspry1 UTSW 8 94,658,750 (GRCm38) missense probably damaging 1.00
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'- CTCTTGATTCTCCATTAGCCAAATG -3'
(R):5'- GATAATCACCATGCTTGGAATCTTAGC -3'

Sequencing Primer
(F):5'- AAAAGCGACTTTTCTGCTGTTC -3'
(R):5'- CCATGCTTGGAATCTTAGCTGAGAAC -3'
Posted On 2014-06-23