Incidental Mutation 'R9699:Rspry1'
ID 729478
Institutional Source Beutler Lab
Gene Symbol Rspry1
Ensembl Gene ENSMUSG00000050079
Gene Name ring finger and SPRY domain containing 1
Synonyms 4930470D19Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.564) question?
Stock # R9699 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 94601937-94660275 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94654229 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 511 (H511R)
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: H511R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: H511R

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: H511R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000212729
AA Change: H387R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600002K03Rik T A 10: 80,174,327 probably null Het
1700066M21Rik G T 1: 57,377,768 R33L probably benign Het
Abhd16b A T 2: 181,494,725 R473S probably benign Het
Adcyap1r1 A G 6: 55,497,155 D492G probably damaging Het
Ano5 A T 7: 51,579,561 N617I probably damaging Het
Cdh15 A G 8: 122,862,030 E281G probably benign Het
Clasp2 T A 9: 113,909,546 probably null Het
Dock8 G A 19: 25,156,024 probably null Het
Dscaml1 T C 9: 45,743,017 V1449A probably damaging Het
Ercc6 A G 14: 32,560,746 D732G probably damaging Het
Fam160b2 A T 14: 70,587,739 S386T possibly damaging Het
Gimap6 T C 6: 48,708,017 E45G probably benign Het
Glt1d1 C A 5: 127,694,300 T285K probably damaging Het
Gm14412 A T 2: 177,315,843 Y86* probably null Het
Grip2 A G 6: 91,765,337 S912P probably benign Het
Gucy2d T A 7: 98,459,083 I741N probably damaging Het
Hrh2 A T 13: 54,214,280 N92Y probably damaging Het
Klrc2 T A 6: 129,660,489 Q23L possibly damaging Het
Patl2 T C 2: 122,125,110 D285G probably damaging Het
Prpf40a A G 2: 53,145,723 V685A probably benign Het
Scarb1 G T 5: 125,297,232 A279E probably damaging Het
Sell A G 1: 164,065,545 E110G probably damaging Het
Sftpc A T 14: 70,522,703 I38N probably damaging Het
Shank1 G A 7: 44,312,918 S71N unknown Het
Slc5a4b C A 10: 76,110,840 V33F probably damaging Het
Smad7 A G 18: 75,394,090 S336G probably damaging Het
Tnpo3 C T 6: 29,565,769 V529I probably benign Het
Trafd1 A G 5: 121,379,664 V22A probably benign Het
Tssk1 A G 16: 17,894,681 E110G probably damaging Het
Vmn1r159 A T 7: 22,843,250 V119D probably damaging Het
Vmn1r191 A G 13: 22,179,185 F133S probably benign Het
Vwa1 G A 4: 155,772,879 P154L probably damaging Het
Zfp830 C T 11: 82,764,979 T203I possibly damaging Het
Zw10 G T 9: 49,055,642 probably benign Het
Other mutations in Rspry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rspry1 APN 8 94622986 start codon destroyed probably null 0.89
IGL00158:Rspry1 APN 8 94622980 intron probably benign
IGL01141:Rspry1 APN 8 94649855 missense probably benign 0.00
IGL01860:Rspry1 APN 8 94649816 missense probably benign 0.00
IGL02174:Rspry1 APN 8 94633140 missense possibly damaging 0.84
IGL02819:Rspry1 APN 8 94654256 missense probably benign 0.42
IGL02926:Rspry1 APN 8 94649811 missense probably damaging 1.00
IGL03366:Rspry1 APN 8 94650334 missense probably benign 0.00
R0570:Rspry1 UTSW 8 94629792 missense probably damaging 1.00
R1833:Rspry1 UTSW 8 94635488 missense probably damaging 1.00
R1988:Rspry1 UTSW 8 94632054 critical splice acceptor site probably null
R2444:Rspry1 UTSW 8 94623107 missense probably damaging 1.00
R3623:Rspry1 UTSW 8 94649777 missense probably damaging 1.00
R3624:Rspry1 UTSW 8 94649777 missense probably damaging 1.00
R4275:Rspry1 UTSW 8 94649761 missense probably benign 0.00
R4888:Rspry1 UTSW 8 94658789 missense probably benign 0.19
R5026:Rspry1 UTSW 8 94650303 missense probably damaging 1.00
R5310:Rspry1 UTSW 8 94623185 missense probably benign
R5374:Rspry1 UTSW 8 94623008 missense probably benign 0.00
R5374:Rspry1 UTSW 8 94654264 missense probably benign 0.38
R5387:Rspry1 UTSW 8 94638286 missense possibly damaging 0.95
R5517:Rspry1 UTSW 8 94636760 splice site probably null
R5631:Rspry1 UTSW 8 94629078 start codon destroyed possibly damaging 0.79
R5653:Rspry1 UTSW 8 94636611 splice site probably null
R6065:Rspry1 UTSW 8 94622987 start codon destroyed probably null 0.98
R6220:Rspry1 UTSW 8 94658750 missense probably damaging 1.00
R6276:Rspry1 UTSW 8 94623258 missense probably damaging 1.00
R6821:Rspry1 UTSW 8 94635431 nonsense probably null
R7390:Rspry1 UTSW 8 94623185 missense probably benign
R7460:Rspry1 UTSW 8 94650335 missense probably benign 0.00
R7644:Rspry1 UTSW 8 94658768 missense probably benign 0.00
R7717:Rspry1 UTSW 8 94623122 missense probably damaging 1.00
R7768:Rspry1 UTSW 8 94629841 missense probably damaging 1.00
R7940:Rspry1 UTSW 8 94623007 missense probably benign 0.22
R7978:Rspry1 UTSW 8 94623125 missense probably damaging 0.98
R8087:Rspry1 UTSW 8 94654297 missense probably benign 0.04
R8174:Rspry1 UTSW 8 94649822 missense probably damaging 0.97
R8326:Rspry1 UTSW 8 94639589 missense probably damaging 1.00
R8676:Rspry1 UTSW 8 94632119 missense probably benign 0.01
R8715:Rspry1 UTSW 8 94623260 missense probably damaging 0.98
R8869:Rspry1 UTSW 8 94633152 missense probably damaging 0.97
R9253:Rspry1 UTSW 8 94622993 missense probably damaging 1.00
R9281:Rspry1 UTSW 8 94636631 missense probably damaging 1.00
X0010:Rspry1 UTSW 8 94629801 missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- CACTGGATTAGAATGAAAGGGTCTG -3'
(R):5'- TCAAGAACAGGATGAATGTTGC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CAGGATGAATGTTGCTGAATATGATG -3'
Posted On 2022-10-06