Incidental Mutation 'R4431:Bspry'
ID 328601
Institutional Source Beutler Lab
Gene Symbol Bspry
Ensembl Gene ENSMUSG00000028392
Gene Name B-box and SPRY domain containing
Synonyms zetin 1
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 62398290-62415535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62400904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 132 (I132N)
Ref Sequence ENSEMBL: ENSMUSP00000103073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030088] [ENSMUST00000107449] [ENSMUST00000132237]
AlphaFold Q80YW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000030088
AA Change: I132N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030088
Gene: ENSMUSG00000028392
AA Change: I132N

DomainStartEndE-ValueType
low complexity region 9 60 N/A INTRINSIC
Pfam:zf-B_box 65 107 1.2e-8 PFAM
low complexity region 225 239 N/A INTRINSIC
PRY 277 330 1.79e-15 SMART
Pfam:SPRY 333 451 3.3e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107449
AA Change: I132N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103073
Gene: ENSMUSG00000028392
AA Change: I132N

DomainStartEndE-ValueType
low complexity region 9 60 N/A INTRINSIC
Pfam:zf-B_box 65 107 4.4e-9 PFAM
low complexity region 225 239 N/A INTRINSIC
PRY 277 330 1.79e-15 SMART
Pfam:SPRY 331 452 1.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132237
SMART Domains Protein: ENSMUSP00000119504
Gene: ENSMUSG00000028392

DomainStartEndE-ValueType
low complexity region 9 60 N/A INTRINSIC
Pfam:zf-B_box 65 107 2e-9 PFAM
Meta Mutation Damage Score 0.5252 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Bspry
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Bspry APN 4 62,414,342 (GRCm39) missense probably benign 0.44
IGL02186:Bspry APN 4 62,414,226 (GRCm39) splice site probably benign
IGL02501:Bspry APN 4 62,414,672 (GRCm39) missense probably benign 0.04
IGL02644:Bspry APN 4 62,414,565 (GRCm39) missense probably damaging 1.00
R0041:Bspry UTSW 4 62,404,791 (GRCm39) missense probably damaging 1.00
R0306:Bspry UTSW 4 62,414,394 (GRCm39) missense probably damaging 1.00
R0560:Bspry UTSW 4 62,404,686 (GRCm39) missense probably damaging 1.00
R1919:Bspry UTSW 4 62,413,034 (GRCm39) missense probably damaging 1.00
R3038:Bspry UTSW 4 62,415,220 (GRCm39) missense probably benign 0.36
R4690:Bspry UTSW 4 62,404,762 (GRCm39) missense probably damaging 0.98
R4735:Bspry UTSW 4 62,404,762 (GRCm39) missense probably damaging 0.98
R5432:Bspry UTSW 4 62,400,952 (GRCm39) missense probably benign 0.01
R5684:Bspry UTSW 4 62,414,519 (GRCm39) missense possibly damaging 0.81
R7209:Bspry UTSW 4 62,404,852 (GRCm39) missense possibly damaging 0.86
R7680:Bspry UTSW 4 62,414,828 (GRCm39) makesense probably null
R7708:Bspry UTSW 4 62,414,337 (GRCm39) missense probably benign 0.36
R9631:Bspry UTSW 4 62,400,955 (GRCm39) critical splice donor site probably null
X0025:Bspry UTSW 4 62,398,435 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATTCCTCTGAGGTGGTGACC -3'
(R):5'- TGTAGTAGGAGAGTCACCCACC -3'

Sequencing Primer
(F):5'- ACTCACTCTGTAGACCAGGATGG -3'
(R):5'- TAGGAGAGTCACCCACCTCCAC -3'
Posted On 2015-07-21