Incidental Mutation 'R2329:Hus1'
ID 245807
Institutional Source Beutler Lab
Gene Symbol Hus1
Ensembl Gene ENSMUSG00000020413
Gene Name HUS1 checkpoint clamp component
MMRRC Submission 040320-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2329 (G1)
Quality Score 203
Status Not validated
Chromosome 11
Chromosomal Location 8943137-8961191 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 8957492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020683] [ENSMUST00000129115]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000020683
SMART Domains Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413

Pfam:Hus1 1 280 5.1e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127578
Predicted Effect probably benign
Transcript: ENSMUST00000129115
SMART Domains Protein: ENSMUSP00000114339
Gene: ENSMUSG00000020413

Pfam:Hus1 1 280 4.8e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152890
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a component of a cell cycle checkpoint complex that causes cell cycle arrest in response to bulky DNA lesions and DNA replication blockage. Together with the proteins Rad9 and Rad1, the encoded protein forms a heterotrimeric complex known as the 9-1-1 complex. Mice lacking the encoded protein develop spontaneous chromosomal abnormalities resulting in embryonic lethality. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A C 13: 77,451,444 (GRCm39) S843R probably benign Het
Adamts15 G T 9: 30,813,781 (GRCm39) R795S probably damaging Het
Adora2a T A 10: 75,162,017 (GRCm39) V52E probably damaging Het
Amph T A 13: 19,323,520 (GRCm39) L594Q probably benign Het
Batf3 A T 1: 190,840,646 (GRCm39) probably null Het
Ccdc146 C T 5: 21,513,610 (GRCm39) probably null Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csn3 A G 5: 88,077,862 (GRCm39) T123A possibly damaging Het
Cspg4 A G 9: 56,795,834 (GRCm39) T1190A probably benign Het
Dab2 C A 15: 6,459,044 (GRCm39) Q298K possibly damaging Het
Dpp6 T C 5: 27,656,286 (GRCm39) probably null Het
Efcab6 C T 15: 83,834,249 (GRCm39) R453Q possibly damaging Het
Ern2 C T 7: 121,772,710 (GRCm39) M610I possibly damaging Het
Fnip1 A G 11: 54,356,933 (GRCm39) D38G probably damaging Het
Fosb T C 7: 19,041,110 (GRCm39) T128A probably benign Het
Gad2 G A 2: 22,558,301 (GRCm39) V340M probably damaging Het
Gm19684 T A 17: 36,439,345 (GRCm39) probably benign Het
Gstk1 T A 6: 42,223,848 (GRCm39) D86E possibly damaging Het
Kbtbd8 T C 6: 95,103,761 (GRCm39) I547T probably benign Het
Mrpl38 T A 11: 116,022,845 (GRCm39) H373L possibly damaging Het
Nostrin A T 2: 68,991,438 (GRCm39) T144S probably damaging Het
Prl8a6 T C 13: 27,621,050 (GRCm39) H60R probably benign Het
Ros1 A G 10: 52,038,983 (GRCm39) I329T probably damaging Het
Scd2 T A 19: 44,286,492 (GRCm39) Y107* probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc34a3 T C 2: 25,119,422 (GRCm39) T483A possibly damaging Het
Slc35c1 A T 2: 92,289,040 (GRCm39) Y155* probably null Het
Susd1 T C 4: 59,379,715 (GRCm39) D304G possibly damaging Het
Taf5 C T 19: 47,063,563 (GRCm39) S371L probably benign Het
Tenm4 A G 7: 96,545,069 (GRCm39) T2362A probably benign Het
Tsg101 A T 7: 46,540,868 (GRCm39) D158E probably damaging Het
Ttn G A 2: 76,599,786 (GRCm39) P19102S probably damaging Het
Ttn A G 2: 76,608,412 (GRCm39) V17837A probably damaging Het
Uhrf1 C A 17: 56,617,671 (GRCm39) probably null Het
Ulk4 C T 9: 121,101,953 (GRCm39) E42K probably damaging Het
Vmn1r184 A T 7: 25,966,387 (GRCm39) L44F probably damaging Het
Zfp932 A T 5: 110,157,406 (GRCm39) H368L probably benign Het
Other mutations in Hus1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Hus1 APN 11 8,950,082 (GRCm39) missense probably benign 0.00
IGL01974:Hus1 APN 11 8,950,088 (GRCm39) missense possibly damaging 0.58
IGL02301:Hus1 APN 11 8,946,915 (GRCm39) missense probably benign
IGL02436:Hus1 APN 11 8,956,057 (GRCm39) missense possibly damaging 0.93
R0694:Hus1 UTSW 11 8,957,531 (GRCm39) nonsense probably null
R2108:Hus1 UTSW 11 8,961,110 (GRCm39) start codon destroyed probably null 1.00
R2128:Hus1 UTSW 11 8,956,011 (GRCm39) missense probably damaging 1.00
R4363:Hus1 UTSW 11 8,948,676 (GRCm39) missense probably damaging 1.00
R4420:Hus1 UTSW 11 8,950,133 (GRCm39) missense probably damaging 1.00
R4453:Hus1 UTSW 11 8,956,035 (GRCm39) missense probably damaging 1.00
R4572:Hus1 UTSW 11 8,957,617 (GRCm39) splice site probably null
R4818:Hus1 UTSW 11 8,946,808 (GRCm39) utr 3 prime probably benign
R4913:Hus1 UTSW 11 8,946,856 (GRCm39) missense probably benign 0.03
R4989:Hus1 UTSW 11 8,956,027 (GRCm39) missense probably damaging 0.97
R5402:Hus1 UTSW 11 8,960,240 (GRCm39) critical splice donor site probably null
R5902:Hus1 UTSW 11 8,960,669 (GRCm39) intron probably benign
R6402:Hus1 UTSW 11 8,960,407 (GRCm39) missense probably damaging 1.00
R7792:Hus1 UTSW 11 8,950,133 (GRCm39) missense probably damaging 1.00
R9155:Hus1 UTSW 11 8,956,056 (GRCm39) missense probably damaging 1.00
R9469:Hus1 UTSW 11 8,948,744 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-30