Incidental Mutation 'IGL00418:Bspry'
ID 6660
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: 0.078) question?
Stock # IGL00418
Quality Score
Status
Chromosome 4
Chromosomal Location 62398290-62415535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62414342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 312 (D312Y)
Ref Sequence ENSEMBL: ENSMUSP00000103073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030088] [ENSMUST00000037820] [ENSMUST00000107449]
AlphaFold Q80YW5
Predicted Effect probably benign
Transcript: ENSMUST00000030088
AA Change: D312Y

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030088
Gene: ENSMUSG00000028392
AA Change: D312Y

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
AA Change: D312Y

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103073
Gene: ENSMUSG00000028392
AA Change: D312Y

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,095,748 (GRCm39) I238T probably damaging Het
Akap4 T C X: 6,942,729 (GRCm39) V344A possibly damaging Het
Apex2 T C X: 149,355,048 (GRCm39) K430E probably benign Het
Aqp9 C T 9: 71,040,013 (GRCm39) A90T probably damaging Het
Asb15 T A 6: 24,558,642 (GRCm39) probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Cdh16 G A 8: 105,350,045 (GRCm39) R5W probably benign Het
Ciz1 C T 2: 32,262,400 (GRCm39) R461C probably damaging Het
Cldn14 T A 16: 93,716,189 (GRCm39) D219V probably benign Het
Clpb A T 7: 101,436,952 (GRCm39) T706S probably benign Het
Cyp2d11 A T 15: 82,276,669 (GRCm39) M90K probably benign Het
Cyp2j8 T A 4: 96,332,853 (GRCm39) I498F possibly damaging Het
Dnah2 A G 11: 69,385,892 (GRCm39) probably benign Het
Dpyd T A 3: 118,737,891 (GRCm39) F477L probably damaging Het
Dscaml1 C A 9: 45,581,498 (GRCm39) S439* probably null Het
Faxc A G 4: 21,958,490 (GRCm39) K216E possibly damaging Het
Fmo1 C T 1: 162,663,815 (GRCm39) R238Q probably damaging Het
Gm14399 G A 2: 174,973,315 (GRCm39) R147* probably null Het
H2-Ab1 G A 17: 34,486,549 (GRCm39) V203M probably damaging Het
Heatr5b T C 17: 79,060,570 (GRCm39) E2035G probably damaging Het
Hip1 A G 5: 135,455,200 (GRCm39) I786T probably damaging Het
Homer1 T C 13: 93,524,196 (GRCm39) probably benign Het
Igkv9-120 A G 6: 68,026,971 (GRCm39) D2G possibly damaging Het
Irgm1 A T 11: 48,756,832 (GRCm39) Y326* probably null Het
Kctd19 A T 8: 106,115,095 (GRCm39) probably null Het
Large1 T C 8: 73,550,469 (GRCm39) probably null Het
Mzf1 G A 7: 12,778,543 (GRCm39) A287V possibly damaging Het
Nes A T 3: 87,883,561 (GRCm39) K607* probably null Het
Pars2 T A 4: 106,511,247 (GRCm39) V307E probably damaging Het
Pcsk5 T A 19: 17,488,785 (GRCm39) I1012F possibly damaging Het
Pole T C 5: 110,451,431 (GRCm39) probably benign Het
Rbm14 T C 19: 4,852,576 (GRCm39) probably benign Het
Scn2a A T 2: 65,594,866 (GRCm39) Q1905L probably benign Het
Slc26a2 A G 18: 61,331,812 (GRCm39) F540L probably benign Het
Slco2a1 T C 9: 102,956,640 (GRCm39) probably benign Het
Tas2r106 T C 6: 131,654,922 (GRCm39) probably null Het
Tmem175 T A 5: 108,793,732 (GRCm39) D287E probably benign Het
Trappc12 T C 12: 28,787,835 (GRCm39) K416R probably damaging Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Vps13c T A 9: 67,783,544 (GRCm39) N240K probably damaging Het
Wdr90 A C 17: 26,068,338 (GRCm39) I1330S probably damaging Het
Wfdc6a A G 2: 164,426,914 (GRCm39) probably null Het
Zc3h12c C T 9: 52,027,965 (GRCm39) V466M probably damaging Het
Zswim8 A G 14: 20,768,543 (GRCm39) T1025A probably damaging Het
Other mutations in Bspry
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20