Incidental Mutation 'R5931:Hs1bp3'
ID 461863
Institutional Source Beutler Lab
Gene Symbol Hs1bp3
Ensembl Gene ENSMUSG00000020605
Gene Name HCLS1 binding protein 3
Synonyms
MMRRC Submission 044126-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5931 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 8363432-8393824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 8391915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 339 (P339Q)
Ref Sequence ENSEMBL: ENSMUSP00000020927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020927]
AlphaFold Q3TC93
Predicted Effect probably benign
Transcript: ENSMUST00000020927
AA Change: P339Q

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: P339Q

DomainStartEndE-ValueType
PX 22 138 2.51e-22 SMART
low complexity region 326 348 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,896,096 (GRCm39) R315W probably damaging Het
Atrn A T 2: 130,775,356 (GRCm39) Y153F possibly damaging Het
C4b A G 17: 34,948,167 (GRCm39) V1644A probably damaging Het
Carmil3 A C 14: 55,736,397 (GRCm39) K654T probably damaging Het
Cdh1 T C 8: 107,392,964 (GRCm39) probably null Het
Chrna1 C T 2: 73,398,444 (GRCm39) V332M probably benign Het
Clca3a2 A C 3: 144,797,886 (GRCm39) V193G possibly damaging Het
Cyld A G 8: 89,456,470 (GRCm39) probably null Het
Dbt A T 3: 116,317,074 (GRCm39) E83D possibly damaging Het
Deup1 T C 9: 15,472,618 (GRCm39) R471G possibly damaging Het
Dgcr2 T A 16: 17,675,173 (GRCm39) I188F possibly damaging Het
Dgkg G A 16: 22,376,788 (GRCm39) R524* probably null Het
Dnaaf9 G A 2: 130,656,109 (GRCm39) T2M probably damaging Het
Dnah5 A T 15: 28,453,425 (GRCm39) R4399W probably damaging Het
Egflam G A 15: 7,273,338 (GRCm39) T579I possibly damaging Het
Eif2b2 C T 12: 85,269,561 (GRCm39) T211I probably damaging Het
Ep400 A G 5: 110,883,386 (GRCm39) probably benign Het
Ermp1 C G 19: 29,593,129 (GRCm39) A788P probably benign Het
Ern1 A G 11: 106,317,699 (GRCm39) S142P possibly damaging Het
Fbxo15 T A 18: 84,999,250 (GRCm39) C351S probably damaging Het
Fndc3a A T 14: 72,806,307 (GRCm39) S444T probably benign Het
Gabra6 G A 11: 42,198,268 (GRCm39) T384M probably benign Het
Gpbp1l1 T C 4: 116,447,457 (GRCm39) V379A probably benign Het
Hook2 G T 8: 85,722,375 (GRCm39) E305* probably null Het
Hoxa3 G A 6: 52,149,568 (GRCm39) A21V probably damaging Het
Igha T A 12: 113,223,710 (GRCm39) T49S probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Lats2 A G 14: 57,933,588 (GRCm39) L843P probably damaging Het
Lcmt1 A G 7: 123,020,839 (GRCm39) T255A probably benign Het
Lpar6 A G 14: 73,476,368 (GRCm39) I110V probably damaging Het
Lrrtm4 A G 6: 79,998,722 (GRCm39) I44V probably damaging Het
Mcm3ap T C 10: 76,307,000 (GRCm39) V371A probably benign Het
Muc20 A T 16: 32,614,944 (GRCm39) D144E possibly damaging Het
Nphp3 T A 9: 103,897,945 (GRCm39) D417E probably damaging Het
Or7g33 A T 9: 19,448,629 (GRCm39) I199K probably benign Het
Or8b40 A G 9: 38,027,670 (GRCm39) I193V probably benign Het
Paqr7 A C 4: 134,235,031 (GRCm39) Y296S probably damaging Het
Pcdha4 A T 18: 37,087,808 (GRCm39) T664S probably damaging Het
Pelo T A 13: 115,225,379 (GRCm39) Y282F probably benign Het
Plxna2 A T 1: 194,493,178 (GRCm39) I1818F probably damaging Het
Pnkd A G 1: 74,389,833 (GRCm39) D319G probably benign Het
Pnma8a C A 7: 16,694,809 (GRCm39) N221K probably benign Het
Ppp1cb T A 5: 32,640,810 (GRCm39) probably null Het
Prkca T G 11: 107,905,136 (GRCm39) I201L probably benign Het
Prp2rt A G 13: 97,235,705 (GRCm39) L14S probably benign Het
Rfx2 G A 17: 57,087,778 (GRCm39) R538C probably damaging Het
Rph3a T C 5: 121,101,936 (GRCm39) Q100R probably damaging Het
Rtel1 C T 2: 180,972,608 (GRCm39) R29* probably null Het
Scel T A 14: 103,843,060 (GRCm39) Y547* probably null Het
Sp100 C T 1: 85,606,804 (GRCm39) P303L probably damaging Het
Stk31 A G 6: 49,446,236 (GRCm39) S958G probably benign Het
Syne2 T A 12: 76,055,639 (GRCm39) V4168E probably benign Het
Tenm3 A T 8: 49,099,533 (GRCm39) S91T probably benign Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,285,493 (GRCm39) probably benign Het
Tmem248 T A 5: 130,258,349 (GRCm39) I14N probably damaging Het
Tor3a T C 1: 156,484,057 (GRCm39) I298V probably benign Het
Trim69 A T 2: 122,009,075 (GRCm39) K378N probably damaging Het
Ttc28 C T 5: 111,232,975 (GRCm39) P151S possibly damaging Het
Uaca T C 9: 60,779,294 (GRCm39) V1225A probably damaging Het
Vps4b T C 1: 106,705,065 (GRCm39) I343V probably benign Het
Wnk4 A G 11: 101,152,047 (GRCm39) T184A probably damaging Het
Ythdc2 T A 18: 45,006,023 (GRCm39) I1172K possibly damaging Het
Other mutations in Hs1bp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01779:Hs1bp3 APN 12 8,391,945 (GRCm39) missense probably benign 0.45
R1745:Hs1bp3 UTSW 12 8,371,690 (GRCm39) nonsense probably null
R2026:Hs1bp3 UTSW 12 8,387,738 (GRCm39) missense probably benign
R2183:Hs1bp3 UTSW 12 8,371,610 (GRCm39) missense possibly damaging 0.81
R4624:Hs1bp3 UTSW 12 8,386,357 (GRCm39) missense probably benign
R4628:Hs1bp3 UTSW 12 8,386,357 (GRCm39) missense probably benign
R4672:Hs1bp3 UTSW 12 8,391,983 (GRCm39) nonsense probably null
R4908:Hs1bp3 UTSW 12 8,374,007 (GRCm39) missense probably damaging 1.00
R5582:Hs1bp3 UTSW 12 8,374,048 (GRCm39) unclassified probably benign
R5845:Hs1bp3 UTSW 12 8,386,275 (GRCm39) missense probably benign 0.25
R5876:Hs1bp3 UTSW 12 8,391,843 (GRCm39) missense possibly damaging 0.86
R7665:Hs1bp3 UTSW 12 8,367,935 (GRCm39) missense probably damaging 1.00
R8940:Hs1bp3 UTSW 12 8,391,980 (GRCm39) missense probably benign 0.01
R9348:Hs1bp3 UTSW 12 8,386,273 (GRCm39) missense probably benign 0.27
R9661:Hs1bp3 UTSW 12 8,367,940 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATAAGGCAAGCTCAGTGC -3'
(R):5'- TAGTCACATACAGGCCTCCTCC -3'

Sequencing Primer
(F):5'- AAGCTCAGTGCCCATGTG -3'
(R):5'- CCCAGCATAGGGTGAAAGGC -3'
Posted On 2017-02-28