Incidental Mutation 'IGL01311:Haus3'
ID 73681
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haus3
Ensembl Gene ENSMUSG00000079555
Gene Name HAUS augmin-like complex, subunit 3
Synonyms D5H4S43, D4S43h, D5H4S43E
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01311
Quality Score
Status
Chromosome 5
Chromosomal Location 34311240-34326768 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 34324988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 224 (Q224*)
Ref Sequence ENSEMBL: ENSMUSP00000049973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042954] [ENSMUST00000060049] [ENSMUST00000202042] [ENSMUST00000202409] [ENSMUST00000202638] [ENSMUST00000202541]
AlphaFold Q8QZX2
Predicted Effect probably benign
Transcript: ENSMUST00000042954
SMART Domains Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102

DomainStartEndE-ValueType
low complexity region 110 121 N/A INTRINSIC
POLAc 605 814 7.88e-67 SMART
low complexity region 829 843 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000060049
AA Change: Q224*
SMART Domains Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555
AA Change: Q224*

DomainStartEndE-ValueType
Pfam:HAUS-augmin3 29 282 4.8e-85 PFAM
coiled coil region 294 336 N/A INTRINSIC
coiled coil region 459 495 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201069
Predicted Effect probably benign
Transcript: ENSMUST00000202042
SMART Domains Protein: ENSMUSP00000144049
Gene: ENSMUSG00000079555

DomainStartEndE-ValueType
Pfam:HAUS-augmin3 29 96 7.2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202290
Predicted Effect probably benign
Transcript: ENSMUST00000202409
SMART Domains Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102

DomainStartEndE-ValueType
low complexity region 110 121 N/A INTRINSIC
coiled coil region 448 471 N/A INTRINSIC
POLAc 587 796 2.6e-69 SMART
low complexity region 811 825 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202638
SMART Domains Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102

DomainStartEndE-ValueType
low complexity region 110 121 N/A INTRINSIC
coiled coil region 448 471 N/A INTRINSIC
POLAc 605 770 3e-37 SMART
low complexity region 785 799 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202541
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit pre- or peri-implantation lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 A T 7: 101,037,343 (GRCm39) K457* probably null Het
Arhgef10 C A 8: 15,041,054 (GRCm39) probably null Het
Becn1 C T 11: 101,182,342 (GRCm39) G281S probably damaging Het
Borcs8 A G 8: 70,617,818 (GRCm39) S59G probably damaging Het
Brd10 C T 19: 29,731,420 (GRCm39) V531I probably benign Het
Capn5 C A 7: 97,811,130 (GRCm39) R53L probably damaging Het
Cdk5 C T 5: 24,624,593 (GRCm39) probably null Het
Cnksr1 A G 4: 133,957,777 (GRCm39) L434P probably damaging Het
Col22a1 C T 15: 71,845,486 (GRCm39) probably benign Het
Fn1 T C 1: 71,667,299 (GRCm39) D811G probably damaging Het
Jakmip2 A G 18: 43,690,389 (GRCm39) probably benign Het
Jam3 T G 9: 27,010,019 (GRCm39) T296P probably damaging Het
Kcnrg T C 14: 61,849,274 (GRCm39) L245P probably damaging Het
Kif1b A G 4: 149,305,059 (GRCm39) L909P probably damaging Het
Klrc3 T C 6: 129,618,375 (GRCm39) D136G probably damaging Het
Lrrc37 T A 11: 103,425,502 (GRCm39) R1450S unknown Het
Ltf T C 9: 110,860,080 (GRCm39) probably benign Het
Meig1 A T 2: 3,410,245 (GRCm39) V85D possibly damaging Het
Mrgprb2 T A 7: 48,201,746 (GRCm39) E326D probably benign Het
Nlrp2 T A 7: 5,322,238 (GRCm39) D65V possibly damaging Het
Or4c100 T C 2: 88,356,104 (GRCm39) F59S possibly damaging Het
Or52h7 T C 7: 104,214,036 (GRCm39) Y203H probably damaging Het
Padi2 G A 4: 140,644,948 (GRCm39) V61I probably benign Het
Pkd1l1 T C 11: 8,851,174 (GRCm39) S753G possibly damaging Het
Ppp4r3b T C 11: 29,144,591 (GRCm39) S314P probably benign Het
Serpina3i T C 12: 104,233,946 (GRCm39) S305P probably damaging Het
Slc16a4 G T 3: 107,199,821 (GRCm39) V23F possibly damaging Het
Slc25a34 G A 4: 141,348,747 (GRCm39) T239I possibly damaging Het
Srebf2 T C 15: 82,076,404 (GRCm39) probably benign Het
Tasor2 A G 13: 3,625,885 (GRCm39) V1355A possibly damaging Het
Tcf12 A T 9: 71,765,938 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,586,077 (GRCm39) E171G possibly damaging Het
Ubr4 A G 4: 139,206,356 (GRCm39) H4864R possibly damaging Het
Vmn2r108 A T 17: 20,682,939 (GRCm39) L755* probably null Het
Zfp292 C T 4: 34,807,961 (GRCm39) M1699I probably benign Het
Zmynd8 T C 2: 165,647,129 (GRCm39) D880G probably damaging Het
Other mutations in Haus3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Haus3 APN 5 34,325,272 (GRCm39) missense probably benign 0.00
IGL00990:Haus3 APN 5 34,323,690 (GRCm39) missense probably benign 0.00
IGL01906:Haus3 APN 5 34,325,667 (GRCm39) intron probably benign
IGL01964:Haus3 APN 5 34,323,405 (GRCm39) missense probably benign 0.19
IGL02383:Haus3 APN 5 34,323,580 (GRCm39) nonsense probably null
IGL02584:Haus3 APN 5 34,323,602 (GRCm39) nonsense probably null
IGL02800:Haus3 APN 5 34,323,668 (GRCm39) missense possibly damaging 0.94
IGL03010:Haus3 APN 5 34,323,631 (GRCm39) missense probably benign 0.04
IGL03371:Haus3 APN 5 34,323,687 (GRCm39) nonsense probably null
R0102:Haus3 UTSW 5 34,323,258 (GRCm39) critical splice donor site probably null
R0102:Haus3 UTSW 5 34,323,258 (GRCm39) critical splice donor site probably null
R0238:Haus3 UTSW 5 34,323,600 (GRCm39) missense possibly damaging 0.54
R0238:Haus3 UTSW 5 34,323,600 (GRCm39) missense possibly damaging 0.54
R0701:Haus3 UTSW 5 34,323,359 (GRCm39) missense probably benign 0.05
R1527:Haus3 UTSW 5 34,311,397 (GRCm39) missense probably benign 0.00
R1714:Haus3 UTSW 5 34,321,041 (GRCm39) missense probably benign 0.03
R1800:Haus3 UTSW 5 34,320,916 (GRCm39) missense probably damaging 1.00
R4874:Haus3 UTSW 5 34,324,972 (GRCm39) missense probably benign 0.07
R4895:Haus3 UTSW 5 34,325,414 (GRCm39) missense probably benign 0.33
R5268:Haus3 UTSW 5 34,323,449 (GRCm39) missense probably damaging 0.98
R5613:Haus3 UTSW 5 34,325,173 (GRCm39) missense probably damaging 0.98
R6299:Haus3 UTSW 5 34,325,140 (GRCm39) missense probably benign 0.40
R6701:Haus3 UTSW 5 34,325,078 (GRCm39) missense probably damaging 0.99
R7414:Haus3 UTSW 5 34,323,477 (GRCm39) missense probably benign
R7920:Haus3 UTSW 5 34,325,046 (GRCm39) missense probably benign 0.04
R8273:Haus3 UTSW 5 34,311,435 (GRCm39) missense probably benign 0.00
R9156:Haus3 UTSW 5 34,324,994 (GRCm39) missense probably damaging 0.99
R9180:Haus3 UTSW 5 34,324,835 (GRCm39) nonsense probably null
R9267:Haus3 UTSW 5 34,311,452 (GRCm39) critical splice acceptor site probably null
R9372:Haus3 UTSW 5 34,321,002 (GRCm39) missense probably benign 0.01
R9511:Haus3 UTSW 5 34,325,571 (GRCm39) missense probably damaging 1.00
R9563:Haus3 UTSW 5 34,325,300 (GRCm39) missense probably benign 0.11
X0019:Haus3 UTSW 5 34,320,900 (GRCm39) nonsense probably null
X0063:Haus3 UTSW 5 34,323,566 (GRCm39) missense possibly damaging 0.52
Posted On 2013-10-07