Incidental Mutation 'R5481:Hus1b'
ID 434346
Institutional Source Beutler Lab
Gene Symbol Hus1b
Ensembl Gene ENSMUSG00000076430
Gene Name HUS1 checkpoint clamp component B
Synonyms
MMRRC Submission 043042-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5481 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 31130559-31131744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31130942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 239 (D239G)
Ref Sequence ENSEMBL: ENSMUSP00000100007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021785] [ENSMUST00000102943] [ENSMUST00000102946]
AlphaFold Q8K572
Predicted Effect probably benign
Transcript: ENSMUST00000021785
SMART Domains Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357

DomainStartEndE-ValueType
Pfam:TIG 8 92 3.2e-10 PFAM
Pfam:Sec5 198 377 3.6e-59 PFAM
low complexity region 572 585 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102943
AA Change: D239G

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100007
Gene: ENSMUSG00000076430
AA Change: D239G

DomainStartEndE-ValueType
Pfam:Hus1 1 276 1.5e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102946
SMART Domains Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357

DomainStartEndE-ValueType
Pfam:TIG 8 92 2.5e-10 PFAM
Pfam:Sec5 198 377 7.5e-59 PFAM
low complexity region 572 585 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223216
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 95.1%
  • 20x: 90.0%
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 is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,759 (GRCm39) S187P probably damaging Het
Aass C A 6: 23,113,475 (GRCm39) V282L probably benign Het
Adh6a G T 3: 138,031,719 (GRCm39) V204F probably damaging Het
Adrm1b A G 3: 92,336,658 (GRCm39) S15P possibly damaging Het
Aspm A G 1: 139,384,799 (GRCm39) K148E possibly damaging Het
Atp12a A T 14: 56,610,846 (GRCm39) D330V possibly damaging Het
Barhl1 A G 2: 28,805,352 (GRCm39) Y114H probably damaging Het
BC106179 T A 16: 23,042,918 (GRCm39) probably benign Het
Cabin1 A G 10: 75,570,900 (GRCm39) L792P probably benign Het
Calcoco2 A G 11: 95,998,369 (GRCm39) V18A probably damaging Het
Chpf2 A T 5: 24,794,340 (GRCm39) H170L probably damaging Het
Chrna1 T A 2: 73,397,270 (GRCm39) I340F possibly damaging Het
Ckap5 A T 2: 91,402,792 (GRCm39) I690F possibly damaging Het
Col10a1 A G 10: 34,271,660 (GRCm39) H544R probably benign Het
Cyp2b19 A C 7: 26,466,246 (GRCm39) T350P probably damaging Het
Dgkq A G 5: 108,796,676 (GRCm39) probably null Het
Dnah1 A G 14: 31,030,828 (GRCm39) V443A possibly damaging Het
Erbb3 T C 10: 128,408,349 (GRCm39) D855G probably damaging Het
Fam3c T C 6: 22,321,357 (GRCm39) D138G probably benign Het
Fen1 A G 19: 10,178,022 (GRCm39) C141R probably damaging Het
Flnc G A 6: 29,441,216 (GRCm39) G390D probably damaging Het
Fnip1 C A 11: 54,393,470 (GRCm39) D635E probably benign Het
Fry A T 5: 150,183,784 (GRCm39) L17F probably benign Het
Fsip2 T C 2: 82,810,230 (GRCm39) I2183T probably benign Het
Gfpt1 T A 6: 87,027,951 (GRCm39) I19N probably damaging Het
Kif1a T C 1: 92,987,966 (GRCm39) K546R probably benign Het
Kmt2d A G 15: 98,759,886 (GRCm39) V1124A unknown Het
Krtap16-1 A G 11: 99,876,153 (GRCm39) I417T probably damaging Het
Manba A T 3: 135,230,317 (GRCm39) N297Y possibly damaging Het
Mblac1 A G 5: 138,193,078 (GRCm39) D140G probably damaging Het
Mlh1 T C 9: 111,058,905 (GRCm39) probably null Het
Morc1 T A 16: 48,381,848 (GRCm39) probably null Het
Morc3 C A 16: 93,659,543 (GRCm39) P449Q probably damaging Het
Mtr T C 13: 12,203,041 (GRCm39) probably null Het
Mylk T A 16: 34,741,974 (GRCm39) C829S probably benign Het
Myo1d A G 11: 80,553,921 (GRCm39) I520T possibly damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nos1 A T 5: 118,005,819 (GRCm39) I180F probably benign Het
Ntsr1 C T 2: 180,183,313 (GRCm39) T341M possibly damaging Het
Or8b51 A T 9: 38,568,916 (GRCm39) F257L probably benign Het
P2rx7 A G 5: 122,818,883 (GRCm39) D435G possibly damaging Het
Peli2 C A 14: 48,490,090 (GRCm39) N136K probably damaging Het
Pigt C A 2: 164,348,342 (GRCm39) P429H probably damaging Het
Pik3r2 T C 8: 71,222,408 (GRCm39) I515V probably benign Het
Pkhd1l1 A G 15: 44,422,042 (GRCm39) Y3104C probably damaging Het
Ppp1r16a A C 15: 76,575,221 (GRCm39) E43A probably damaging Het
Ptpn18 T C 1: 34,510,744 (GRCm39) L260P possibly damaging Het
Scaf11 A T 15: 96,318,498 (GRCm39) S355R probably damaging Het
Sema4a A T 3: 88,360,347 (GRCm39) Y77* probably null Het
Serpinb9b T C 13: 33,222,076 (GRCm39) V230A possibly damaging Het
Sfswap T A 5: 129,591,882 (GRCm39) S300T probably damaging Het
Slc22a30 T C 19: 8,314,201 (GRCm39) N495S probably benign Het
Srcap G A 7: 127,131,369 (GRCm39) G836D probably damaging Het
Stard4 A C 18: 33,338,298 (GRCm39) C137W probably benign Het
Stat6 A G 10: 127,483,695 (GRCm39) probably null Het
Steap3 T C 1: 120,169,454 (GRCm39) D243G probably benign Het
Taf1c A G 8: 120,325,979 (GRCm39) S628P probably damaging Het
Unkl C T 17: 25,420,146 (GRCm39) Q13* probably null Het
Usp38 A G 8: 81,719,952 (GRCm39) S426P possibly damaging Het
Vmn2r8 T C 5: 108,949,636 (GRCm39) T404A probably benign Het
Washc1 T C 17: 66,425,860 (GRCm39) V425A probably benign Het
Zfyve9 A G 4: 108,501,546 (GRCm39) I590T probably damaging Het
Other mutations in Hus1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Hus1b APN 13 31,131,527 (GRCm39) missense probably benign
IGL02058:Hus1b APN 13 31,130,900 (GRCm39) missense probably benign 0.10
R1104:Hus1b UTSW 13 31,131,679 (GRCm39) intron probably benign
R1476:Hus1b UTSW 13 31,130,984 (GRCm39) missense probably benign 0.10
R3154:Hus1b UTSW 13 31,131,236 (GRCm39) missense probably benign
R4551:Hus1b UTSW 13 31,131,059 (GRCm39) missense probably damaging 1.00
R4583:Hus1b UTSW 13 31,131,501 (GRCm39) missense probably damaging 1.00
R6416:Hus1b UTSW 13 31,131,188 (GRCm39) missense probably damaging 1.00
R6519:Hus1b UTSW 13 31,130,930 (GRCm39) missense probably benign 0.01
R7057:Hus1b UTSW 13 31,131,533 (GRCm39) missense possibly damaging 0.62
R7569:Hus1b UTSW 13 31,130,847 (GRCm39) missense probably damaging 1.00
R8175:Hus1b UTSW 13 31,131,215 (GRCm39) missense probably benign 0.25
R9210:Hus1b UTSW 13 31,130,858 (GRCm39) missense possibly damaging 0.72
R9212:Hus1b UTSW 13 31,130,858 (GRCm39) missense possibly damaging 0.72
R9430:Hus1b UTSW 13 31,131,587 (GRCm39) missense probably damaging 0.99
Z1177:Hus1b UTSW 13 31,130,975 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAATCCATGGGGTTGCAGG -3'
(R):5'- TGGAAGCAAACCTCAATGGC -3'

Sequencing Primer
(F):5'- CTCAAAGTCTCAGTTCTGGAAAGTGC -3'
(R):5'- CCTCAATGGCAGAATGAACTTGACTG -3'
Posted On 2016-10-06