Incidental Mutation 'IGL02644:Bspry'
ID 301870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bspry
Ensembl Gene ENSMUSG00000028392
Gene Name B-box and SPRY domain containing
Synonyms zetin 1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL02644
Quality Score
Status
Chromosome 4
Chromosomal Location 62398290-62415535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62414565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 386 (H386L)
Ref Sequence ENSEMBL: ENSMUSP00000103073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030088] [ENSMUST00000037820] [ENSMUST00000107449]
AlphaFold Q80YW5
Predicted Effect probably damaging
Transcript: ENSMUST00000030088
AA Change: H386L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030088
Gene: ENSMUSG00000028392
AA Change: H386L

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 damaging
Transcript: ENSMUST00000107449
AA Change: H386L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103073
Gene: ENSMUSG00000028392
AA Change: H386L

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A T 3: 151,198,007 (GRCm39) Y89F probably benign Het
Agl A G 3: 116,580,246 (GRCm39) Y406H probably damaging Het
Ankhd1 G A 18: 36,711,828 (GRCm39) probably null Het
Ankmy1 T C 1: 92,812,776 (GRCm39) D511G probably benign Het
Arid2 T C 15: 96,266,589 (GRCm39) Y546H probably damaging Het
Asap1 G T 15: 63,982,911 (GRCm39) P806T probably damaging Het
Aspa T A 11: 73,212,992 (GRCm39) T117S probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
C1qc T C 4: 136,617,629 (GRCm39) T156A possibly damaging Het
Cfhr4 A G 1: 139,708,905 (GRCm39) M1T probably null Het
Copz2 A T 11: 96,744,257 (GRCm39) probably benign Het
Cybb A G X: 9,333,395 (GRCm39) V23A probably benign Het
D630003M21Rik T A 2: 158,058,730 (GRCm39) D390V possibly damaging Het
Dennd10 T A 19: 60,810,741 (GRCm39) S43T possibly damaging Het
Dpy19l2 G T 9: 24,569,888 (GRCm39) P355Q probably damaging Het
Gcn1 A T 5: 115,713,250 (GRCm39) Q71L probably benign Het
Gpd1l T C 9: 114,732,725 (GRCm39) probably null Het
Hydin A G 8: 111,265,100 (GRCm39) D2761G probably damaging Het
Ifi202b T A 1: 173,799,280 (GRCm39) H256L probably benign Het
Igkv8-24 T C 6: 70,193,872 (GRCm39) Y112C probably damaging Het
Lama3 G A 18: 12,658,910 (GRCm39) R2022Q probably benign Het
Mroh4 T A 15: 74,482,224 (GRCm39) R675S possibly damaging Het
Mtf1 T G 4: 124,714,028 (GRCm39) C146G probably damaging Het
Nubpl A G 12: 52,317,841 (GRCm39) D178G probably damaging Het
Or7e165 A C 9: 19,695,010 (GRCm39) I194L probably benign Het
Pam16 A G 16: 4,434,697 (GRCm39) S91P probably damaging Het
Pcdhac2 A G 18: 37,278,232 (GRCm39) E404G probably benign Het
Pde7a C A 3: 19,311,031 (GRCm39) probably benign Het
Perm1 G T 4: 156,303,043 (GRCm39) G529V probably damaging Het
Pik3c2a T C 7: 115,972,049 (GRCm39) T794A probably benign Het
Ppfibp1 A G 6: 146,923,938 (GRCm39) Y722C probably damaging Het
Ppm1m A T 9: 106,074,082 (GRCm39) I241N probably damaging Het
Psd T C 19: 46,311,834 (GRCm39) Y282C probably damaging Het
Rpl27 T A 11: 101,336,317 (GRCm39) probably benign Het
Scaf1 A G 7: 44,655,357 (GRCm39) probably benign Het
Sec14l2 A T 11: 4,053,380 (GRCm39) probably benign Het
Smchd1 T A 17: 71,667,016 (GRCm39) probably benign Het
Sptb A T 12: 76,652,391 (GRCm39) D1615E probably damaging Het
Stt3a A C 9: 36,663,649 (GRCm39) C198G possibly damaging Het
Tas2r144 T C 6: 42,192,787 (GRCm39) S176P possibly damaging Het
Tlr13 A G X: 105,200,503 (GRCm39) D80G probably benign Het
Tmco4 A G 4: 138,737,920 (GRCm39) probably benign Het
Tnpo2 T A 8: 85,771,109 (GRCm39) C132S possibly damaging Het
Tubgcp3 T C 8: 12,698,733 (GRCm39) D406G probably damaging Het
Vmn2r125 G A 4: 156,703,294 (GRCm39) R224Q probably benign Het
Zfp524 C A 7: 5,020,479 (GRCm39) D2E 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
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
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
Posted On 2015-04-16