Incidental Mutation 'IGL01779:Hs1bp3'
ID153898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs1bp3
Ensembl Gene ENSMUSG00000020605
Gene NameHCLS1 binding protein 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.036) question?
Stock #IGL01779
Quality Score
Status
Chromosome12
Chromosomal Location8313432-8343824 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 8341945 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 349 (T349I)
Ref Sequence ENSEMBL: ENSMUSP00000020927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020927]
Predicted Effect probably benign
Transcript: ENSMUST00000020927
AA Change: T349I

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: T349I

DomainStartEndE-ValueType
PX 22 138 2.51e-22 SMART
low complexity region 326 348 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A T 5: 81,387,870 I119F probably damaging Het
Akt1 C T 12: 112,657,169 G286R probably damaging Het
Apof A G 10: 128,269,477 I167V probably benign Het
Arhgap15 A G 2: 44,065,045 E220G possibly damaging Het
Clca3a2 T A 3: 144,819,378 Y31F possibly damaging Het
Clmn T C 12: 104,782,140 I383V probably benign Het
Cntnap5b A G 1: 99,967,339 D112G probably damaging Het
Col8a1 A T 16: 57,628,363 H261Q unknown Het
Csmd3 A T 15: 47,857,894 V1551D probably benign Het
Ddx60 G A 8: 62,017,823 V1450M possibly damaging Het
Ethe1 A T 7: 24,595,009 H79L probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm11110 C T 17: 57,102,087 probably benign Het
Ifna16 A T 4: 88,676,645 I71N probably damaging Het
Il18bp A G 7: 102,016,795 Y59H possibly damaging Het
Kcnt1 T A 2: 25,900,967 I511N probably damaging Het
Mlph A G 1: 90,942,950 M528V probably benign Het
Olfr646 A G 7: 104,106,633 D118G probably damaging Het
Pprc1 T A 19: 46,062,202 I52N probably damaging Het
Rfx1 T A 8: 84,092,662 probably benign Het
Rnf17 A T 14: 56,462,063 I553F probably benign Het
Scaper A T 9: 55,892,240 H180Q probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc30a10 A T 1: 185,464,179 Q346L possibly damaging Het
Stambpl1 A T 19: 34,240,027 H422L possibly damaging Het
Trim67 G A 8: 124,828,121 G701R probably damaging Het
Vipr1 T C 9: 121,664,630 F249S probably damaging Het
Vmn2r117 G T 17: 23,477,241 D397E probably benign Het
Other mutations in Hs1bp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1745:Hs1bp3 UTSW 12 8321690 nonsense probably null
R2026:Hs1bp3 UTSW 12 8337738 missense probably benign
R2183:Hs1bp3 UTSW 12 8321610 missense possibly damaging 0.81
R4624:Hs1bp3 UTSW 12 8336357 missense probably benign
R4628:Hs1bp3 UTSW 12 8336357 missense probably benign
R4672:Hs1bp3 UTSW 12 8341983 nonsense probably null
R4908:Hs1bp3 UTSW 12 8324007 missense probably damaging 1.00
R5582:Hs1bp3 UTSW 12 8324048 unclassified probably benign
R5845:Hs1bp3 UTSW 12 8336275 missense probably benign 0.25
R5876:Hs1bp3 UTSW 12 8341843 missense possibly damaging 0.86
R5931:Hs1bp3 UTSW 12 8341915 missense probably benign 0.03
Posted On2014-02-04