Incidental Mutation 'R4895:Haus3'
ID 377558
Institutional Source Beutler Lab
Gene Symbol Haus3
Ensembl Gene ENSMUSG00000079555
Gene Name HAUS augmin-like complex, subunit 3
Synonyms D5H4S43, D4S43h, D5H4S43E
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 34311240-34326768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34325414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 82 (R82G)
Ref Sequence ENSEMBL: ENSMUSP00000049973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042954] [ENSMUST00000060049] [ENSMUST00000202042] [ENSMUST00000202541] [ENSMUST00000202638] [ENSMUST00000202409]
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: R82G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555
AA Change: R82G

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
AA Change: R82G

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000144049
Gene: ENSMUSG00000079555
AA Change: R82G

DomainStartEndE-ValueType
Pfam:HAUS-augmin3 29 96 7.2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202290
Predicted Effect probably benign
Transcript: ENSMUST00000202541
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: 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TAGGAATCCTTGCTTCTGTTTCAG -3'
(R):5'- TAATGGAGAAGATTTTGACTGGCTC -3'

Sequencing Primer
(F):5'- GGCCTCCTCTTGTTTAGCATTTAATG -3'
(R):5'- AGAAGATTTTGACTGGCTCTTTGAG -3'
Posted On 2016-03-17