Incidental Mutation 'R5845:Hs1bp3'
ID453578
Institutional Source Beutler Lab
Gene Symbol Hs1bp3
Ensembl Gene ENSMUSG00000020605
Gene NameHCLS1 binding protein 3
Synonyms
MMRRC Submission 044063-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #R5845 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location8313432-8343824 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8336275 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 226 (R226G)
Ref Sequence ENSEMBL: ENSMUSP00000020927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020927]
Predicted Effect probably benign
Transcript: ENSMUST00000020927
AA Change: R226G

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: R226G

DomainStartEndE-ValueType
PX 22 138 2.51e-22 SMART
low complexity region 326 348 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217669
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency 97% (59/61)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,626,083 Y928N probably benign Het
Als2cr12 T A 1: 58,667,778 E243D possibly damaging Het
Amz2 T C 11: 109,433,929 F213S probably damaging Het
Cage1 T A 13: 38,015,706 S732C probably damaging Het
Ccnf C A 17: 24,240,793 D229Y possibly damaging Het
Cdon G T 9: 35,457,466 C332F probably damaging Het
Clca3b G A 3: 144,825,316 R758C possibly damaging Het
Cyp2ab1 C T 16: 20,312,332 R349H probably benign Het
Dock10 C T 1: 80,505,742 probably benign Het
Dock5 A T 14: 67,841,101 Y225N possibly damaging Het
Ear2 G A 14: 44,103,161 R92K probably benign Het
Eif3c T C 7: 126,564,755 S39G probably damaging Het
Eml3 A G 19: 8,939,218 D701G probably damaging Het
Fat3 G A 9: 16,377,210 T339I probably damaging Het
Fbn2 T C 18: 58,053,768 D1687G possibly damaging Het
Fcnb C T 2: 28,079,621 probably null Het
Fscb A G 12: 64,472,784 V636A unknown Het
Gm6124 A G 7: 39,219,875 noncoding transcript Het
Hectd4 T A 5: 121,307,524 probably null Het
Hrnr A T 3: 93,332,637 H3394L unknown Het
Ifngr2 T C 16: 91,555,059 V61A probably benign Het
Kcnk2 T C 1: 189,277,721 probably benign Het
Kmt2d G A 15: 98,852,109 probably benign Het
Lrmp G A 6: 145,171,666 M376I probably benign Het
Mgam T A 6: 40,675,323 N810K possibly damaging Het
Mis18a A G 16: 90,721,634 probably null Het
Nsmce3 A G 7: 64,872,188 V244A possibly damaging Het
Olfr1129 T C 2: 87,576,023 I313T probably benign Het
Plxna4 A T 6: 32,237,776 V590D probably damaging Het
Prkab1 A T 5: 116,024,160 D30E probably benign Het
Rasgrp3 A T 17: 75,503,147 N281Y possibly damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Sept2 T A 1: 93,499,035 probably null Het
Slc26a6 T G 9: 108,862,083 V609G possibly damaging Het
Spta1 T A 1: 174,241,096 M2154K probably damaging Het
Stoml2 T G 4: 43,030,008 probably benign Het
Sult6b1 A C 17: 78,894,630 S148A probably damaging Het
Tmem131l A G 3: 83,940,553 V335A probably damaging Het
Tmem221 T A 8: 71,555,144 probably null Het
Tmem88 C G 11: 69,397,678 Q138H probably benign Het
Trpm8 T C 1: 88,328,180 Y186H probably benign Het
Trpv1 T C 11: 73,240,581 I7T probably damaging Het
Ttc34 T C 4: 154,865,472 S961P probably benign Het
Ubr1 T C 2: 120,904,005 D1138G probably benign Het
Ubr7 C T 12: 102,766,312 R188C probably damaging Het
Uspl1 C T 5: 149,193,960 P118S probably benign Het
Vdr C A 15: 97,869,766 E114D possibly damaging Het
Zfp853 C T 5: 143,288,669 V399M unknown Het
Zswim4 T A 8: 84,217,242 probably null Het
Other mutations in Hs1bp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01779:Hs1bp3 APN 12 8341945 missense probably benign 0.45
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
R5876:Hs1bp3 UTSW 12 8341843 missense possibly damaging 0.86
R5931:Hs1bp3 UTSW 12 8341915 missense probably benign 0.03
R7665:Hs1bp3 UTSW 12 8317935 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGTTGCTTCACATGCCAAG -3'
(R):5'- TTCTCAGGGACATAGACATTCAC -3'

Sequencing Primer
(F):5'- CCAAGATGGCTCTGGTTGG -3'
(R):5'- GGGACATAGACATTCACCAAGCTC -3'
Posted On2017-02-10