Incidental Mutation 'IGL00656:Strbp'
ID 14285
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Strbp
Ensembl Gene ENSMUSG00000026915
Gene Name spermatid perinuclear RNA binding protein
Synonyms Spnr, C230082I21Rik, 6430510M02Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.585) question?
Stock # IGL00656
Quality Score
Status
Chromosome 2
Chromosomal Location 37459880-37593890 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 37493150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028279] [ENSMUST00000072186] [ENSMUST00000183690]
AlphaFold Q91WM1
Predicted Effect probably benign
Transcript: ENSMUST00000028279
SMART Domains Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072186
SMART Domains Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183690
SMART Domains Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex. Minor brain abnormalities and spermatogenesis defects were also noted. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asns A T 6: 7,680,215 (GRCm39) probably benign Het
Atxn2 A G 5: 121,933,118 (GRCm39) I814V probably benign Het
Cfhr1 T C 1: 139,475,493 (GRCm39) probably benign Het
Cyp3a57 A G 5: 145,309,359 (GRCm39) I232M possibly damaging Het
Ddx27 T A 2: 166,861,886 (GRCm39) D129E probably benign Het
Dld A G 12: 31,399,594 (GRCm39) probably null Het
Ibtk A G 9: 85,599,598 (GRCm39) probably null Het
Lrp3 T C 7: 34,905,453 (GRCm39) probably benign Het
Mmp27 A C 9: 7,581,383 (GRCm39) T549P possibly damaging Het
Oas1d A G 5: 121,057,270 (GRCm39) Y292C possibly damaging Het
Pdcd11 A G 19: 47,086,609 (GRCm39) D205G probably damaging Het
Rbm39 A G 2: 156,004,791 (GRCm39) V181A probably damaging Het
Spata31e2 A G 1: 26,721,982 (GRCm39) V1066A possibly damaging Het
Tor1aip1 T C 1: 155,907,213 (GRCm39) N187S probably benign Het
Ubqln3 T C 7: 103,790,984 (GRCm39) T369A probably benign Het
Unc13a G A 8: 72,095,791 (GRCm39) A1242V probably null Het
Other mutations in Strbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Strbp APN 2 37,476,516 (GRCm39) splice site probably benign
IGL01376:Strbp APN 2 37,535,663 (GRCm39) missense probably damaging 1.00
IGL01998:Strbp APN 2 37,515,297 (GRCm39) missense probably damaging 1.00
IGL02347:Strbp APN 2 37,535,660 (GRCm39) missense probably benign 0.25
IGL02453:Strbp APN 2 37,476,520 (GRCm39) critical splice donor site probably null
IGL02804:Strbp APN 2 37,514,498 (GRCm39) splice site probably benign
IGL03102:Strbp APN 2 37,476,515 (GRCm39) splice site probably benign
PIT4418001:Strbp UTSW 2 37,535,504 (GRCm39) missense probably benign
R0382:Strbp UTSW 2 37,490,838 (GRCm39) missense probably benign 0.00
R0575:Strbp UTSW 2 37,530,885 (GRCm39) missense possibly damaging 0.87
R0610:Strbp UTSW 2 37,474,089 (GRCm39) missense probably damaging 0.97
R0825:Strbp UTSW 2 37,525,539 (GRCm39) missense probably benign 0.00
R1829:Strbp UTSW 2 37,530,921 (GRCm39) missense possibly damaging 0.63
R1831:Strbp UTSW 2 37,515,277 (GRCm39) missense possibly damaging 0.71
R3416:Strbp UTSW 2 37,480,737 (GRCm39) missense possibly damaging 0.94
R3417:Strbp UTSW 2 37,480,737 (GRCm39) missense possibly damaging 0.94
R4673:Strbp UTSW 2 37,535,691 (GRCm39) missense probably damaging 1.00
R5093:Strbp UTSW 2 37,517,499 (GRCm39) missense probably damaging 0.99
R5099:Strbp UTSW 2 37,493,030 (GRCm39) missense probably damaging 0.98
R5269:Strbp UTSW 2 37,517,455 (GRCm39) missense possibly damaging 0.87
R5378:Strbp UTSW 2 37,490,818 (GRCm39) missense probably benign 0.03
R5378:Strbp UTSW 2 37,489,186 (GRCm39) missense probably damaging 1.00
R5454:Strbp UTSW 2 37,535,495 (GRCm39) missense probably benign 0.00
R5905:Strbp UTSW 2 37,515,267 (GRCm39) missense probably damaging 1.00
R6028:Strbp UTSW 2 37,515,267 (GRCm39) missense probably damaging 1.00
R6374:Strbp UTSW 2 37,493,020 (GRCm39) missense probably damaging 1.00
R6700:Strbp UTSW 2 37,493,975 (GRCm39) missense probably null 0.01
R6800:Strbp UTSW 2 37,515,228 (GRCm39) missense probably damaging 1.00
R7032:Strbp UTSW 2 37,493,125 (GRCm39) missense possibly damaging 0.92
R7139:Strbp UTSW 2 37,514,514 (GRCm39) missense probably benign 0.00
R7261:Strbp UTSW 2 37,531,149 (GRCm39) splice site probably null
R7481:Strbp UTSW 2 37,490,766 (GRCm39) missense probably benign 0.02
R7718:Strbp UTSW 2 37,515,294 (GRCm39) missense probably damaging 1.00
R7959:Strbp UTSW 2 37,530,906 (GRCm39) missense probably benign 0.00
R8921:Strbp UTSW 2 37,514,503 (GRCm39) critical splice donor site probably null
R8936:Strbp UTSW 2 37,493,949 (GRCm39) nonsense probably null
R9742:Strbp UTSW 2 37,515,268 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06