Incidental Mutation 'R9430:Hus1b'
ID 712917
Institutional Source Beutler Lab
Gene Symbol Hus1b
Ensembl Gene ENSMUSG00000076430
Gene Name HUS1 checkpoint clamp component B
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R9430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 31130559-31131744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31131587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 24 (A24E)
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 damaging
Transcript: ENSMUST00000102943
AA Change: A24E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100007
Gene: ENSMUSG00000076430
AA Change: A24E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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 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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A C 1: 59,231,198 (GRCm39) N804K probably benign Het
Arid5b C A 10: 68,022,087 (GRCm39) probably null Het
Brd2 T C 17: 34,331,610 (GRCm39) D779G unknown Het
Brox A T 1: 183,069,353 (GRCm39) V118E probably damaging Het
Ccdc137 A T 11: 120,349,530 (GRCm39) E76V probably damaging Het
Ccdc150 A G 1: 54,320,930 (GRCm39) K327E probably damaging Het
Ccdc171 A G 4: 83,522,362 (GRCm39) E342G probably damaging Het
Cd109 G A 9: 78,574,698 (GRCm39) probably null Het
Cep85 C A 4: 133,894,665 (GRCm39) R47L probably damaging Het
Cgrrf1 T A 14: 47,091,331 (GRCm39) V285E probably damaging Het
Ctu1 T C 7: 43,326,042 (GRCm39) S234P probably damaging Het
Dnah3 G A 7: 119,628,205 (GRCm39) T1484I probably damaging Het
Dusp16 G T 6: 134,737,829 (GRCm39) Q70K probably damaging Het
Eri3 T G 4: 117,439,868 (GRCm39) Y187* probably null Het
Evi2a T A 11: 79,418,523 (GRCm39) Y29F possibly damaging Het
Ext2 A G 2: 93,592,999 (GRCm39) S402P possibly damaging Het
Fam76a T A 4: 132,645,055 (GRCm39) Q60L probably damaging Het
Fat3 T C 9: 16,287,381 (GRCm39) N714S probably damaging Het
Fbxw24 T A 9: 109,439,038 (GRCm39) N179I probably damaging Het
Fras1 A G 5: 96,929,251 (GRCm39) N3885S probably benign Het
Grip2 A T 6: 91,784,265 (GRCm39) V12E probably benign Het
Gse1 A T 8: 121,299,049 (GRCm39) Y766F unknown Het
Herc1 C T 9: 66,325,785 (GRCm39) Q1420* probably null Het
Htr1f T A 16: 64,746,831 (GRCm39) I154F probably damaging Het
Igkv17-127 A G 6: 67,838,441 (GRCm39) I51V probably damaging Het
Ilk G T 7: 105,390,072 (GRCm39) R149L probably benign Het
Inpp5b T A 4: 124,636,340 (GRCm39) V5E possibly damaging Het
Jak2 A T 19: 29,265,367 (GRCm39) S465C possibly damaging Het
Kif23 T C 9: 61,834,722 (GRCm39) T394A probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lama4 A G 10: 38,921,802 (GRCm39) D441G probably null Het
Ldhd A G 8: 112,356,680 (GRCm39) L27P possibly damaging Het
Lingo1 A G 9: 56,527,512 (GRCm39) I365T probably benign Het
Lyz2 C A 10: 117,118,077 (GRCm39) C24F possibly damaging Het
Map1b T A 13: 99,570,616 (GRCm39) T702S unknown Het
Map4 T A 9: 109,863,760 (GRCm39) D328E probably benign Het
Matn1 C T 4: 130,673,278 (GRCm39) T82M probably damaging Het
Mfrp T C 9: 44,014,570 (GRCm39) V239A probably damaging Het
Misp G T 10: 79,661,675 (GRCm39) V31F probably benign Het
Muc5ac C T 7: 141,362,569 (GRCm39) T1960I unknown Het
Myh2 T A 11: 67,070,359 (GRCm39) M434K probably benign Het
Myh3 T A 11: 66,982,726 (GRCm39) I815N possibly damaging Het
Myo18a A G 11: 77,709,410 (GRCm39) M507V possibly damaging Het
Nbas T A 12: 13,371,654 (GRCm39) S385T probably benign Het
Nepro G A 16: 44,552,460 (GRCm39) R319K possibly damaging Het
Nlrc3 A T 16: 3,783,396 (GRCm39) C53S probably benign Het
Nudt17 A G 3: 96,614,224 (GRCm39) probably null Het
Nwd2 T G 5: 63,964,665 (GRCm39) C1416W probably damaging Het
Ocln A C 13: 100,676,356 (GRCm39) F46V possibly damaging Het
Or52n3 A T 7: 104,530,204 (GRCm39) N97Y possibly damaging Het
Or5be3 A T 2: 86,864,253 (GRCm39) V104D probably damaging Het
Osbpl5 T C 7: 143,263,526 (GRCm39) K119R probably benign Het
Paf1 T G 7: 28,096,331 (GRCm39) F315V possibly damaging Het
Parp4 T A 14: 56,866,673 (GRCm39) V1079D probably damaging Het
Pcgf6 C T 19: 47,039,219 (GRCm39) A14T unknown Het
Plcxd1 A G 5: 110,251,368 (GRCm39) T315A probably benign Het
Plxnc1 A G 10: 94,758,544 (GRCm39) V384A probably benign Het
Polm G A 11: 5,784,749 (GRCm39) T236I probably damaging Het
Prl7d1 T C 13: 27,898,360 (GRCm39) T50A possibly damaging Het
Reln T C 5: 22,120,105 (GRCm39) D2849G probably damaging Het
Sec16b C T 1: 157,394,894 (GRCm39) R1045C probably damaging Het
Six4 A G 12: 73,150,719 (GRCm39) S609P possibly damaging Het
Slc25a31 A T 3: 40,679,297 (GRCm39) probably null Het
Slc4a2 A G 5: 24,636,317 (GRCm39) N230S probably benign Het
Sorcs1 T C 19: 50,199,208 (GRCm39) Y785C probably damaging Het
Styxl1 A G 5: 135,784,259 (GRCm39) probably null Het
Synm C T 7: 67,383,181 (GRCm39) V1494M possibly damaging Het
Taf7l2 A T 10: 115,949,282 (GRCm39) D81E probably damaging Het
Tamm41 A G 6: 114,993,063 (GRCm39) M230T probably benign Het
Tbc1d12 T G 19: 38,884,490 (GRCm39) M347R probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tm4sf1 A C 3: 57,197,214 (GRCm39) S164A probably damaging Het
Trim67 A G 8: 125,552,956 (GRCm39) H686R probably damaging Het
Trpm1 T C 7: 63,873,446 (GRCm39) L567P probably benign Het
Tsfm A G 10: 126,858,771 (GRCm39) L198P probably damaging Het
Ttc6 A T 12: 57,733,193 (GRCm39) D1112V probably damaging Het
Ttn A G 2: 76,601,922 (GRCm39) V18580A probably benign Het
Ubr1 C A 2: 120,734,506 (GRCm39) Q1131H possibly damaging Het
Uhrf2 C T 19: 30,016,659 (GRCm39) R117C probably benign Het
Vmn2r70 A G 7: 85,215,240 (GRCm39) V98A probably benign Het
Zfp799 T C 17: 33,039,186 (GRCm39) E360G 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
R5481:Hus1b UTSW 13 31,130,942 (GRCm39) missense probably benign 0.15
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
Z1177:Hus1b UTSW 13 31,130,975 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTGGAGCTTCAGGGATGAAG -3'
(R):5'- TAAGCAGGCTACACTCCAGG -3'

Sequencing Primer
(F):5'- ATGAAGCATTGCCGGCATTC -3'
(R):5'- TACACTCCAGGCCGGAAGAG -3'
Posted On 2022-05-16