Incidental Mutation 'R3038:Bspry'
ID 264876
Institutional Source Beutler Lab
Gene Symbol Bspry
Ensembl Gene ENSMUSG00000028392
Gene Name B-box and SPRY domain containing
Synonyms zetin 1
MMRRC Submission 040554-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R3038 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 62398290-62415535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62415220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 468 (I468V)
Ref Sequence ENSEMBL: ENSMUSP00000030088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030088] [ENSMUST00000037820] [ENSMUST00000107449]
AlphaFold Q80YW5
Predicted Effect probably benign
Transcript: ENSMUST00000030088
AA Change: I468V

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030088
Gene: ENSMUSG00000028392
AA Change: I468V

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 probably benign
Transcript: ENSMUST00000037820
SMART Domains Protein: ENSMUSP00000036337
Gene: ENSMUSG00000038422

DomainStartEndE-ValueType
Pfam:Hydrolase 7 205 1.3e-15 PFAM
Pfam:HAD_2 10 211 8.9e-20 PFAM
Pfam:Hydrolase_like 164 237 1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107449
SMART Domains Protein: ENSMUSP00000103073
Gene: ENSMUSG00000028392

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 noncoding transcript
Transcript: ENSMUST00000140038
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cavin2 T A 1: 51,340,416 (GRCm39) N364K possibly damaging Het
Ces1f T A 8: 93,983,226 (GRCm39) N506I probably damaging Het
Dnhd1 A T 7: 105,369,436 (GRCm39) Q4353L probably damaging Het
Dsc3 T C 18: 20,124,617 (GRCm39) T36A possibly damaging Het
Hydin A G 8: 111,309,321 (GRCm39) T4038A probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kif1b T C 4: 149,297,790 (GRCm39) I1083V probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mrgpra1 G A 7: 46,984,744 (GRCm39) Q312* probably null Het
Pcdha1 T A 18: 37,064,064 (GRCm39) F243I probably damaging Het
Ppp1r18 T C 17: 36,179,274 (GRCm39) L383P probably damaging Het
Tmed9 A G 13: 55,744,792 (GRCm39) K207E probably damaging Het
Tnfrsf19 A G 14: 61,209,512 (GRCm39) S253P probably benign Het
Tspear T A 10: 77,722,273 (GRCm39) Y624* probably null Het
Vmn2r16 G A 5: 109,487,199 (GRCm39) C140Y probably damaging Het
Vwa7 T C 17: 35,241,637 (GRCm39) V424A probably damaging Het
Zgpat TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 2: 181,007,811 (GRCm39) probably benign 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
R4431:Bspry UTSW 4 62,400,904 (GRCm39) missense possibly damaging 0.95
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'- GGTACCTTGTGCATGGCTAG -3'
(R):5'- TGTTCAGCAGCACAGTGAG -3'

Sequencing Primer
(F):5'- CCTTGTGCATGGCTAGTATACAAC -3'
(R):5'- AGGGGGAATGTTTGTCACCC -3'
Posted On 2015-02-05