Incidental Mutation 'IGL02301:Hus1'
ID 290302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hus1
Ensembl Gene ENSMUSG00000020413
Gene Name HUS1 checkpoint clamp component
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02301
Quality Score
Chromosome 11
Chromosomal Location 8943137-8961191 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8946915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 261 (T261A)
Ref Sequence ENSEMBL: ENSMUSP00000114339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020683] [ENSMUST00000129115]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020683
AA Change: T261A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413
AA Change: T261A

Pfam:Hus1 1 280 5.1e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129115
AA Change: T261A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114339
Gene: ENSMUSG00000020413
AA Change: T261A

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,551,900 (GRCm39) probably benign Het
Alk T C 17: 72,181,171 (GRCm39) Q1373R probably damaging Het
Atf7ip2 T G 16: 10,028,911 (GRCm39) S148A probably benign Het
Bpi C T 2: 158,116,734 (GRCm39) S377F probably damaging Het
Ccni A T 5: 93,336,034 (GRCm39) C122S possibly damaging Het
Cd5l A G 3: 87,273,300 (GRCm39) R90G probably benign Het
Ceacam3 C T 7: 16,897,026 (GRCm39) S664F probably damaging Het
Clca3a2 A T 3: 144,512,133 (GRCm39) D534E probably damaging Het
Ep400 A T 5: 110,822,826 (GRCm39) S2524R probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gart A G 16: 91,418,725 (GRCm39) probably benign Het
Gsdmc4 A G 15: 63,767,113 (GRCm39) V219A probably benign Het
Lman2l A G 1: 36,482,624 (GRCm39) I84T probably damaging Het
Megf8 G A 7: 25,037,325 (GRCm39) V742M probably damaging Het
Myo1d A G 11: 80,567,679 (GRCm39) V267A probably benign Het
Notch2 A G 3: 98,048,870 (GRCm39) T1803A probably benign Het
Or1e17 T A 11: 73,831,894 (GRCm39) M274K possibly damaging Het
Or4f54 T A 2: 111,123,042 (GRCm39) M143K probably benign Het
Or6c70 A G 10: 129,709,948 (GRCm39) F226S probably damaging Het
Pate11 T C 9: 36,388,483 (GRCm39) probably benign Het
Pde5a G A 3: 122,554,534 (GRCm39) R208Q probably damaging Het
Pla2r1 T C 2: 60,282,780 (GRCm39) N745S probably benign Het
Ptgdr2 T A 19: 10,917,573 (GRCm39) I30N possibly damaging Het
Rap1gap2 G A 11: 74,298,195 (GRCm39) T415I probably damaging Het
Slc6a6 T C 6: 91,703,037 (GRCm39) Y137H probably benign Het
Sptbn1 A T 11: 30,092,129 (GRCm39) D532E probably damaging Het
Stk39 T C 2: 68,042,306 (GRCm39) D543G probably damaging Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Trrap A G 5: 144,714,727 (GRCm39) I100V probably benign Het
Vmn1r-ps123 A C 13: 23,180,527 (GRCm39) noncoding transcript Het
Vwa5b2 G A 16: 20,423,540 (GRCm39) G1151D probably damaging Het
Zfp358 T A 8: 3,546,858 (GRCm39) I480N probably benign Het
Zfp423 T C 8: 88,508,202 (GRCm39) D714G probably damaging 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
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
R2329:Hus1 UTSW 11 8,957,492 (GRCm39) critical splice donor site probably null
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
Posted On 2015-04-16