Incidental Mutation 'R0547:Haus5'
ID44898
Institutional Source Beutler Lab
Gene Symbol Haus5
Ensembl Gene ENSMUSG00000078762
Gene NameHAUS augmin-like complex, subunit 5
Synonyms2310022K01Rik
MMRRC Submission 038739-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.924) question?
Stock #R0547 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location30653711-30664994 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 30659083 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 289 (S289T)
Ref Sequence ENSEMBL: ENSMUSP00000121739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019697] [ENSMUST00000132862]
Predicted Effect probably benign
Transcript: ENSMUST00000019697
AA Change: S289T

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000019697
Gene: ENSMUSG00000078762
AA Change: S289T

DomainStartEndE-ValueType
Pfam:HAUS5 7 617 9.8e-181 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126511
Predicted Effect probably damaging
Transcript: ENSMUST00000132862
AA Change: S289T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121739
Gene: ENSMUSG00000078762
AA Change: S289T

DomainStartEndE-ValueType
Pfam:HAUS5 5 515 4.4e-182 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146232
Meta Mutation Damage Score 0.248 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,773,610 Y181H probably benign Het
A530084C06Rik A G 13: 31,558,830 probably benign Het
Adamtsl1 A G 4: 86,356,355 D1208G probably benign Het
Ankrd55 T C 13: 112,368,223 F501S probably benign Het
Aox2 G A 1: 58,310,042 D656N probably damaging Het
Atr A T 9: 95,899,165 probably benign Het
Bicra G A 7: 15,972,248 R1423W probably damaging Het
Cabyr T A 18: 12,751,016 S187T probably benign Het
Car5b G A X: 163,979,301 R282C probably damaging Het
Cdon A T 9: 35,457,498 T343S possibly damaging Het
Cep350 C T 1: 155,901,435 probably null Het
Copa T C 1: 172,121,687 probably benign Het
Cyp4f18 T C 8: 71,996,010 D265G probably benign Het
Dgkb T A 12: 38,604,158 C759S probably benign Het
Dnah6 T C 6: 73,044,774 M3470V probably benign Het
Eif4g2 T C 7: 111,078,293 N177S probably damaging Het
Etfb C T 7: 43,454,578 Q145* probably null Het
Flnb T A 14: 7,912,943 probably null Het
G430095P16Rik G A 8: 84,726,642 probably benign Het
Gfral A T 9: 76,208,642 S17T probably benign Het
Gm884 T C 11: 103,620,164 N326S unknown Het
Gpr26 T C 7: 131,984,297 I332T probably benign Het
Greb1 T A 12: 16,723,411 T221S probably benign Het
Ighv6-4 T C 12: 114,406,601 Y77C probably damaging Het
Il23r A T 6: 67,423,701 D548E probably benign Het
Il23r A T 6: 67,486,251 F86Y possibly damaging Het
Inppl1 A T 7: 101,831,003 M424K probably benign Het
Jam3 A G 9: 27,098,888 Y267H probably damaging Het
Mms19 A T 19: 41,963,418 M160K probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 probably null Het
Mup5 A G 4: 61,833,000 L137P probably damaging Het
Mylk G C 16: 34,879,475 E403Q possibly damaging Het
Ntrk2 G A 13: 58,874,370 S413N probably damaging Het
Nuak2 C A 1: 132,332,203 T573N probably benign Het
Odf3 A G 7: 140,848,815 probably null Het
Olfr651 G A 7: 104,553,356 V146M probably benign Het
Olfr734 A T 14: 50,320,118 I239K probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,748,449 probably benign Het
Pclo T A 5: 14,792,072 I4787N unknown Het
Pde8a G T 7: 81,324,130 V612L probably benign Het
Pear1 A T 3: 87,788,800 probably null Het
Pgbd1 A G 13: 21,423,518 Y169H probably damaging Het
Pkd1l1 A G 11: 8,836,448 probably benign Het
Prkag3 C T 1: 74,744,720 probably null Het
Rsph9 A T 17: 46,144,124 S9T possibly damaging Het
Rxfp1 A T 3: 79,705,569 probably null Het
Senp7 A G 16: 56,175,826 E756G probably damaging Het
Serpina1e G T 12: 103,949,191 T252K probably benign Het
Sipa1l1 T A 12: 82,437,736 S1555T probably benign Het
Slain1 T C 14: 103,695,275 S432P probably damaging Het
Slc37a2 A T 9: 37,233,122 probably null Het
Thg1l C T 11: 45,954,191 R18Q probably damaging Het
Tnn A G 1: 160,116,337 probably benign Het
Trim32 G A 4: 65,613,254 R16Q probably damaging Het
Tshz3 A G 7: 36,771,417 T944A probably damaging Het
Ttn C G 2: 76,854,430 probably benign Het
Ythdc2 T C 18: 44,840,264 S323P possibly damaging Het
Zfp827 A G 8: 79,060,310 N35S probably damaging Het
Other mutations in Haus5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Haus5 APN 7 30663294 splice site probably benign
IGL02422:Haus5 APN 7 30660146 missense possibly damaging 0.95
IGL02427:Haus5 APN 7 30661771 missense probably benign
IGL02626:Haus5 APN 7 30657250 missense probably damaging 1.00
IGL02695:Haus5 APN 7 30663277 missense probably damaging 1.00
R0046:Haus5 UTSW 7 30654180 missense probably benign 0.10
R0046:Haus5 UTSW 7 30654180 missense probably benign 0.10
R0511:Haus5 UTSW 7 30659067 missense probably damaging 1.00
R1447:Haus5 UTSW 7 30661791 splice site probably null
R1711:Haus5 UTSW 7 30657903 nonsense probably null
R1852:Haus5 UTSW 7 30658501 critical splice donor site probably null
R1901:Haus5 UTSW 7 30657245 missense probably damaging 1.00
R2029:Haus5 UTSW 7 30659400 missense possibly damaging 0.95
R4832:Haus5 UTSW 7 30657027 missense probably damaging 0.97
R4865:Haus5 UTSW 7 30658555 missense probably damaging 1.00
R5123:Haus5 UTSW 7 30654226 missense probably benign 0.23
R5168:Haus5 UTSW 7 30657711 missense possibly damaging 0.95
R5492:Haus5 UTSW 7 30658955 missense possibly damaging 0.69
R6293:Haus5 UTSW 7 30658976 nonsense probably null
R6296:Haus5 UTSW 7 30658976 nonsense probably null
R6297:Haus5 UTSW 7 30658976 nonsense probably null
R6332:Haus5 UTSW 7 30658976 nonsense probably null
R6334:Haus5 UTSW 7 30658976 nonsense probably null
R6964:Haus5 UTSW 7 30657615 missense probably benign 0.41
R7095:Haus5 UTSW 7 30659572 missense probably benign 0.06
U24488:Haus5 UTSW 7 30658976 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCTCTGCTGAGGGAACATCTTTAC -3'
(R):5'- TGGAACTGAATGCCAGCCAGTC -3'

Sequencing Primer
(F):5'- GAGGGAACATCTTTACCTCTCACTG -3'
(R):5'- ATGCCAGCCAGTCACAGG -3'
Posted On2013-06-11