Incidental Mutation 'R7414:Haus3'
ID 575284
Institutional Source Beutler Lab
Gene Symbol Haus3
Ensembl Gene ENSMUSG00000079555
Gene Name HAUS augmin-like complex, subunit 3
Synonyms D5H4S43, D4S43h, D5H4S43E
MMRRC Submission 045494-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7414 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 34311240-34326768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34323477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 378 (I378L)
Ref Sequence ENSEMBL: ENSMUSP00000049973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042954] [ENSMUST00000060049] [ENSMUST00000202042] [ENSMUST00000202409] [ENSMUST00000202541] [ENSMUST00000202638]
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: I378L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555
AA Change: I378L

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 probably benign
Transcript: ENSMUST00000202042
SMART Domains Protein: ENSMUSP00000144049
Gene: ENSMUSG00000079555

DomainStartEndE-ValueType
Pfam:HAUS-augmin3 29 96 7.2e-27 PFAM
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: 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
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (98/101)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G A 5: 139,349,779 (GRCm39) T90M probably damaging Het
Abca4 T A 3: 121,896,387 (GRCm39) S540T probably benign Het
Adcy4 G A 14: 56,019,090 (GRCm39) L156F probably benign Het
Adcyap1 T A 17: 93,510,256 (GRCm39) L95M probably damaging Het
Ahctf1 T C 1: 179,611,670 (GRCm39) T567A probably benign Het
Ankrd26 T C 6: 118,485,741 (GRCm39) I1378V possibly damaging Het
Ankrd44 T A 1: 54,706,539 (GRCm39) H639L probably damaging Het
Arfrp1 C T 2: 181,001,307 (GRCm39) R189Q possibly damaging Het
Astn2 T C 4: 65,459,193 (GRCm39) D1126G possibly damaging Het
Bap1 G C 14: 30,975,572 (GRCm39) G139R probably benign Het
Bms1 C T 6: 118,360,706 (GRCm39) R1254Q possibly damaging Het
Ceacam15 A G 7: 16,407,235 (GRCm39) V94A probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cip2a T C 16: 48,821,998 (GRCm39) F209L probably benign Het
Clec2m T C 6: 129,302,596 (GRCm39) T144A probably benign Het
Clock T C 5: 76,410,611 (GRCm39) T87A probably benign Het
Cntrl A T 2: 35,055,479 (GRCm39) I1706L probably benign Het
Cr2 C A 1: 194,832,344 (GRCm39) V981L probably benign Het
Cxcr6 G A 9: 123,639,287 (GRCm39) W103* probably null Het
Dld A T 12: 31,385,525 (GRCm39) F272Y probably damaging Het
Dmrt2 T A 19: 25,650,950 (GRCm39) D45E probably benign Het
Eif2a T A 3: 58,433,502 (GRCm39) L8* probably null Het
Epg5 G T 18: 78,026,747 (GRCm39) R1246L possibly damaging Het
Ets1 T A 9: 32,664,153 (GRCm39) C350* probably null Het
Fam135b C T 15: 71,350,105 (GRCm39) R345Q probably damaging Het
Fbn2 C T 18: 58,229,122 (GRCm39) R696H probably damaging Het
Gbf1 C A 19: 46,271,797 (GRCm39) Y159* probably null Het
Gcsam T C 16: 45,437,301 (GRCm39) probably null Het
Gmpr2 G T 14: 55,910,259 (GRCm39) probably null Het
H2-T3 C A 17: 36,498,275 (GRCm39) V257L not run Het
Hadha A G 5: 30,331,610 (GRCm39) F449L possibly damaging Het
Hdac7 T A 15: 97,706,392 (GRCm39) H272L probably benign Het
Icam5 T C 9: 20,948,889 (GRCm39) V747A probably damaging Het
Ifrd2 G A 9: 107,467,370 (GRCm39) V81M possibly damaging Het
Insyn2a G T 7: 134,519,738 (GRCm39) A264D probably benign Het
Ipcef1 G T 10: 6,840,673 (GRCm39) C345* probably null Het
Ipmk T A 10: 71,217,124 (GRCm39) F223I probably damaging Het
Itpr2 A T 6: 146,274,706 (GRCm39) N825K probably benign Het
Itprid2 A G 2: 79,475,072 (GRCm39) K344E possibly damaging Het
Kazn G A 4: 141,836,649 (GRCm39) T530I Het
Kmt2d C T 15: 98,737,737 (GRCm39) V5120M unknown Het
Krt6b T G 15: 101,587,449 (GRCm39) D215A probably benign Het
Lgals12 T C 19: 7,581,335 (GRCm39) K124R probably damaging Het
Lpar6 T A 14: 73,476,240 (GRCm39) V67D probably damaging Het
Lrch3 T C 16: 32,818,883 (GRCm39) Y661H probably damaging Het
Lrrc32 A T 7: 98,149,201 (GRCm39) Q660H probably benign Het
Lurap1l T A 4: 80,871,991 (GRCm39) H161Q probably benign Het
Map3k19 A G 1: 127,766,189 (GRCm39) I245T probably damaging Het
Mcf2l T A 8: 13,069,022 (GRCm39) *1119K probably null Het
Mertk C A 2: 128,571,313 (GRCm39) A89E possibly damaging Het
Mical3 A T 6: 121,011,074 (GRCm39) Y375N probably damaging Het
Myo15a T A 11: 60,374,309 (GRCm39) D121E Het
N4bp2l1 T A 5: 150,499,758 (GRCm39) N116I probably damaging Het
Nbeal1 T C 1: 60,233,756 (GRCm39) probably null Het
Nlrp12 A T 7: 3,289,977 (GRCm39) D178E probably benign Het
Nt5c2 C A 19: 46,878,328 (GRCm39) G444C probably damaging Het
Or10g7 T A 9: 39,905,349 (GRCm39) M81K possibly damaging Het
Or2f1b T A 6: 42,739,762 (GRCm39) Y259N probably damaging Het
Or8b48 T C 9: 38,492,764 (GRCm39) F64L probably benign Het
Pdcl2 A C 5: 76,460,359 (GRCm39) S220A possibly damaging Het
Pip5kl1 T C 2: 32,468,247 (GRCm39) S138P possibly damaging Het
Pkd1l1 A T 11: 8,866,267 (GRCm39) N979K Het
Prkcb A T 7: 122,167,450 (GRCm39) T387S possibly damaging Het
Pxdc1 A G 13: 34,821,135 (GRCm39) probably benign Het
Sbf2 C T 7: 109,913,271 (GRCm39) E1668K possibly damaging Het
Sec16a T G 2: 26,313,643 (GRCm39) T455P Het
Sec24b C A 3: 129,803,514 (GRCm39) V412F probably benign Het
Serpina3b A G 12: 104,099,145 (GRCm39) N220S probably benign Het
Sgip1 C T 4: 102,824,821 (GRCm39) Q581* probably null Het
Shf A T 2: 122,190,063 (GRCm39) I175N possibly damaging Het
Slc16a10 G A 10: 40,017,992 (GRCm39) T14M probably benign Het
Slc22a4 A T 11: 53,888,254 (GRCm39) M258K probably benign Het
Slfn8 A T 11: 82,907,618 (GRCm39) Y308* probably null Het
Slfnl1 T C 4: 120,392,451 (GRCm39) Y249H probably damaging Het
Smchd1 T C 17: 71,782,074 (GRCm39) Y29C probably damaging Het
Snai1 C A 2: 167,380,588 (GRCm39) probably null Het
Sntg1 T C 1: 8,518,289 (GRCm39) Y368C probably damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spop G A 11: 95,365,334 (GRCm39) V126M probably damaging Het
Taar3 A T 10: 23,825,715 (GRCm39) Y87F probably damaging Het
Tarm1 C A 7: 3,545,318 (GRCm39) M177I probably benign Het
Tcerg1l A G 7: 137,819,786 (GRCm39) F485L probably damaging Het
Thsd7b A T 1: 129,556,717 (GRCm39) I435F probably damaging Het
Tiam2 A G 17: 3,464,388 (GRCm39) D39G possibly damaging Het
Tigd4 T C 3: 84,501,128 (GRCm39) V15A probably benign Het
Tll2 T C 19: 41,092,268 (GRCm39) D523G probably damaging Het
Tmem117 A G 15: 94,612,776 (GRCm39) D104G probably damaging Het
Tmem132b T C 5: 125,864,555 (GRCm39) L887P probably damaging Het
Tnfrsf26 A T 7: 143,168,642 (GRCm39) V132D probably damaging Het
Tomt T A 7: 101,549,715 (GRCm39) D191V probably damaging Het
Ttc39b T C 4: 83,160,459 (GRCm39) M373V probably damaging Het
Ttn G A 2: 76,568,493 (GRCm39) P27467S possibly damaging Het
Ttn A C 2: 76,573,130 (GRCm39) V25921G probably damaging Het
Ubxn2a A C 12: 4,941,381 (GRCm39) V75G probably damaging Het
Uchl5 A T 1: 143,682,433 (GRCm39) K319N unknown Het
Ugt2b1 T C 5: 87,073,693 (GRCm39) D222G probably damaging Het
Vmn1r213 A G 13: 23,195,446 (GRCm39) I10V unknown Het
Vps13b T C 15: 35,910,973 (GRCm39) I3579T probably damaging Het
Xpo5 T A 17: 46,532,295 (GRCm39) H443Q probably benign Het
Zfp316 A G 5: 143,250,407 (GRCm39) M2T unknown Het
Zscan4-ps2 A G 7: 11,251,359 (GRCm39) T160A possibly 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
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
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
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'- ACTGCTCAGATGCTGGTATG -3'
(R):5'- AGTAGTTCATGCTGGCCTTTC -3'

Sequencing Primer
(F):5'- CTGGTATGTCTGATAACACTGCCAAG -3'
(R):5'- GCAGAAATTTCTAGCTTAAACAGTG -3'
Posted On 2019-10-07