Incidental Mutation 'IGL01964:Haus3'
ID 181497
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 # IGL01964
Quality Score
Status
Chromosome 5
Chromosomal Location 34311240-34326768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34323405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 402 (Y402N)
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 benign
Transcript: ENSMUST00000060049
AA Change: Y402N

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555
AA Change: Y402N

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: ENSMUST00000104266
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A C 8: 44,079,798 (GRCm39) I142S probably benign Het
Aknad1 T C 3: 108,685,593 (GRCm39) V579A probably benign Het
Ankrd11 A G 8: 123,616,475 (GRCm39) I2438T probably damaging Het
Cdh11 A G 8: 103,391,375 (GRCm39) V287A probably benign Het
Cdyl2 G A 8: 117,350,768 (GRCm39) S121L probably benign Het
Cyp2e1 A T 7: 140,343,779 (GRCm39) I6F probably damaging Het
Cyp3a16 A T 5: 145,392,372 (GRCm39) D194E probably benign Het
Eapp G T 12: 54,732,720 (GRCm39) P126Q probably damaging Het
Efr3b A T 12: 4,032,928 (GRCm39) L143Q probably damaging Het
Grin2c C T 11: 115,144,673 (GRCm39) E618K probably damaging Het
Iffo1 A G 6: 125,128,364 (GRCm39) D316G probably damaging Het
Kctd19 A T 8: 106,115,157 (GRCm39) M468K probably damaging Het
Kdm4b T A 17: 56,696,256 (GRCm39) probably null Het
Naip6 T A 13: 100,435,238 (GRCm39) probably benign Het
Or5k15 A T 16: 58,709,827 (GRCm39) I252K probably damaging Het
Polr3c T C 3: 96,619,291 (GRCm39) probably benign Het
Poteg A T 8: 27,938,036 (GRCm39) E60V probably damaging Het
Rnd2 T C 11: 101,361,632 (GRCm39) probably null Het
Rufy3 A G 5: 88,762,929 (GRCm39) Q153R probably damaging Het
Shank1 T A 7: 43,975,102 (GRCm39) I399N unknown Het
Sin3a T C 9: 57,014,631 (GRCm39) probably benign Het
Sppl2b T A 10: 80,701,220 (GRCm39) probably null Het
Srgap1 G A 10: 121,640,871 (GRCm39) P665L possibly damaging Het
Srgap2 G T 1: 131,217,316 (GRCm39) Q999K probably benign Het
Tbxas1 G A 6: 39,060,748 (GRCm39) V496I probably benign Het
Vmn1r198 A G 13: 22,538,576 (GRCm39) M21V probably benign Het
Wdr90 T C 17: 26,067,383 (GRCm39) I1479V probably benign 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
IGL01311:Haus3 APN 5 34,324,988 (GRCm39) nonsense probably null
IGL01906:Haus3 APN 5 34,325,667 (GRCm39) intron probably benign
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 2014-05-07