Incidental Mutation 'IGL02436:Hus1'
ID293284
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hus1
Ensembl Gene ENSMUSG00000020413
Gene NameHUS1 checkpoint clamp component
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02436
Quality Score
Status
Chromosome11
Chromosomal Location8993137-9011191 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9006057 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 159 (I159V)
Ref Sequence ENSEMBL: ENSMUSP00000114339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020683] [ENSMUST00000129115]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020683
AA Change: I159V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413
AA Change: I159V

DomainStartEndE-ValueType
Pfam:Hus1 1 280 5.1e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127578
Predicted Effect possibly damaging
Transcript: ENSMUST00000129115
AA Change: I159V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114339
Gene: ENSMUSG00000020413
AA Change: I159V

DomainStartEndE-ValueType
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC005561 T A 5: 104,521,155 I1181K probably benign Het
Carm1 A T 9: 21,579,462 R209W probably damaging Het
Clec4a2 A G 6: 123,140,678 D185G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dyrk3 A G 1: 131,128,865 S524P probably benign Het
Fam46c C A 3: 100,472,507 R311L probably benign Het
Gm17175 A T 14: 51,569,651 probably benign Het
Hdx A T X: 111,600,748 D512E probably damaging Het
Hs6st2 T G X: 51,680,014 T275P possibly damaging Het
Lrrc37a T C 11: 103,498,177 T2141A unknown Het
Ncoa7 A T 10: 30,694,147 I272N probably damaging Het
Olfr286 G T 15: 98,227,290 C118* probably null Het
P3h2 T C 16: 25,997,200 K188E probably benign Het
Pcsk5 A G 19: 17,564,708 probably null Het
Pramef12 G T 4: 144,392,969 P343T possibly damaging Het
Scn1a G A 2: 66,351,153 P9S probably benign Het
Slc7a9 C A 7: 35,457,053 L307I probably benign Het
Srebf2 G A 15: 82,197,727 G87S probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tex30 T C 1: 44,088,505 probably null Het
Tnrc6a C T 7: 123,184,215 R970* probably null Het
Vgll2 A T 10: 52,025,222 R83* probably null Het
Other mutations in Hus1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Hus1 APN 11 9000082 missense probably benign 0.00
IGL01974:Hus1 APN 11 9000088 missense possibly damaging 0.58
IGL02301:Hus1 APN 11 8996915 missense probably benign
R0694:Hus1 UTSW 11 9007531 nonsense probably null
R2108:Hus1 UTSW 11 9011110 start codon destroyed probably null 1.00
R2128:Hus1 UTSW 11 9006011 missense probably damaging 1.00
R2329:Hus1 UTSW 11 9007492 critical splice donor site probably null
R4363:Hus1 UTSW 11 8998676 missense probably damaging 1.00
R4420:Hus1 UTSW 11 9000133 missense probably damaging 1.00
R4453:Hus1 UTSW 11 9006035 missense probably damaging 1.00
R4572:Hus1 UTSW 11 9007617 splice site probably null
R4818:Hus1 UTSW 11 8996808 utr 3 prime probably benign
R4913:Hus1 UTSW 11 8996856 missense probably benign 0.03
R4989:Hus1 UTSW 11 9006027 missense probably damaging 0.97
R5402:Hus1 UTSW 11 9010240 critical splice donor site probably null
R5902:Hus1 UTSW 11 9010669 intron probably benign
R6402:Hus1 UTSW 11 9010407 missense probably damaging 1.00
R7792:Hus1 UTSW 11 9000133 missense probably damaging 1.00
Posted On2015-04-16