Incidental Mutation 'R0046:Haus5'
ID16044
Institutional Source Beutler Lab
Gene Symbol Haus5
Ensembl Gene ENSMUSG00000078762
Gene NameHAUS augmin-like complex, subunit 5
Synonyms2310022K01Rik
MMRRC Submission 038340-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #R0046 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location30653711-30664994 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 30654180 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 591 (V591I)
Ref Sequence ENSEMBL: ENSMUSP00000019697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019697] [ENSMUST00000042726] [ENSMUST00000108141] [ENSMUST00000132862]
Predicted Effect probably benign
Transcript: ENSMUST00000019697
AA Change: V591I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000019697
Gene: ENSMUSG00000078762
AA Change: V591I

DomainStartEndE-ValueType
Pfam:HAUS5 7 617 9.8e-181 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042726
SMART Domains Protein: ENSMUSP00000040005
Gene: ENSMUSG00000036733

DomainStartEndE-ValueType
low complexity region 6 31 N/A INTRINSIC
low complexity region 75 86 N/A INTRINSIC
low complexity region 101 126 N/A INTRINSIC
low complexity region 192 217 N/A INTRINSIC
low complexity region 220 243 N/A INTRINSIC
low complexity region 247 277 N/A INTRINSIC
low complexity region 279 333 N/A INTRINSIC
low complexity region 339 355 N/A INTRINSIC
RRM 380 453 1.11e-21 SMART
low complexity region 467 474 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108141
SMART Domains Protein: ENSMUSP00000103776
Gene: ENSMUSG00000036733

DomainStartEndE-ValueType
low complexity region 6 31 N/A INTRINSIC
low complexity region 75 86 N/A INTRINSIC
low complexity region 101 126 N/A INTRINSIC
low complexity region 163 188 N/A INTRINSIC
low complexity region 191 214 N/A INTRINSIC
low complexity region 218 248 N/A INTRINSIC
low complexity region 250 304 N/A INTRINSIC
low complexity region 310 326 N/A INTRINSIC
RRM 351 424 1.11e-21 SMART
low complexity region 438 445 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126511
Predicted Effect probably benign
Transcript: ENSMUST00000132862
SMART Domains Protein: ENSMUSP00000121739
Gene: ENSMUSG00000078762

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181529
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.2%
  • 10x: 78.3%
  • 20x: 64.0%
Validation Efficiency 98% (86/88)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A T 4: 56,743,877 K135* probably null Het
Adamts16 A G 13: 70,763,460 S871P probably benign Het
Adcy10 A T 1: 165,539,834 I558F probably damaging Het
Adsl T G 15: 80,962,788 probably null Het
Aldob T C 4: 49,543,842 I47V possibly damaging Het
Alkbh8 A G 9: 3,343,247 E46G probably damaging Het
Atp1a4 A T 1: 172,240,097 L533Q probably benign Het
Auts2 T C 5: 131,770,785 noncoding transcript Het
B3gnt3 T C 8: 71,692,923 Y267C probably damaging Het
BC051142 T C 17: 34,460,121 probably null Het
Ccdc39 A G 3: 33,844,152 F15L possibly damaging Het
Cntnap5c T G 17: 58,359,300 D1108E probably benign Het
Col14a1 G A 15: 55,408,963 probably benign Het
Col9a3 G A 2: 180,609,487 A317T possibly damaging Het
Cpt1c A T 7: 44,959,832 probably benign Het
Cpt2 A G 4: 107,904,362 probably null Het
Crebrf T A 17: 26,763,334 L565M probably damaging Het
Dmxl1 T A 18: 49,878,082 V1102E probably benign Het
Dock4 G A 12: 40,737,360 probably benign Het
Dpp3 G T 19: 4,914,643 N545K probably damaging Het
Elmo2 T A 2: 165,298,726 N275I probably damaging Het
Farp1 A G 14: 121,255,513 K509R probably benign Het
Flg T A 3: 93,277,721 probably benign Het
Gas2l2 A T 11: 83,421,910 W859R probably damaging Het
Gatm T C 2: 122,600,744 D254G probably damaging Het
Gjd4 T A 18: 9,280,998 I27F probably damaging Het
Gm19410 A G 8: 35,802,645 E1148G probably benign Het
Kcnab3 G A 11: 69,330,227 probably null Het
Limk1 T C 5: 134,672,761 Y96C probably damaging Het
Lrp2bp T A 8: 46,013,155 Y100* probably null Het
Ly75 A T 2: 60,339,457 probably benign Het
Mamstr T G 7: 45,641,770 probably benign Het
Man1a A G 10: 53,919,187 Y657H probably damaging Het
Marf1 G A 16: 14,111,727 P1672S possibly damaging Het
Mboat7 T C 7: 3,683,818 Y341C probably damaging Het
Nhsl1 A T 10: 18,525,669 N881I probably damaging Het
Nox3 T C 17: 3,682,961 Y225C probably benign Het
Olfr1214 C T 2: 88,987,349 M284I probably benign Het
Olfr1260 C T 2: 89,978,507 T243I probably damaging Het
Pclo C T 5: 14,540,479 T931M unknown Het
Pfas G T 11: 68,990,467 R1025S probably benign Het
Prg4 T C 1: 150,456,086 T279A possibly damaging Het
Psma1 A T 7: 114,267,205 probably benign Het
Rab11fip1 A G 8: 27,153,121 L550P probably damaging Het
Rgs12 T A 5: 34,965,320 I149N probably damaging Het
Rmnd5a T C 6: 71,399,231 H195R probably damaging Het
Rnf17 T C 14: 56,471,373 L750P probably damaging Het
Rtcb T C 10: 85,957,656 N18D probably benign Het
Seh1l T C 18: 67,792,016 probably null Het
Sptbn2 T C 19: 4,745,377 probably benign Het
Stag3 C T 5: 138,283,023 probably benign Het
Taar2 G A 10: 23,941,495 R311H probably benign Het
Taok3 C T 5: 117,272,229 Q829* probably null Het
Ttn A G 2: 76,951,542 probably benign Het
Unc79 A G 12: 103,125,681 E1756G probably damaging Het
Usp35 A T 7: 97,313,597 probably null Het
Zbtb40 A G 4: 136,987,278 C1067R 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
R0511:Haus5 UTSW 7 30659067 missense probably damaging 1.00
R0547:Haus5 UTSW 7 30659083 missense probably damaging 0.96
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
R7348:Haus5 UTSW 7 30656966 missense possibly damaging 0.94
U24488:Haus5 UTSW 7 30658976 nonsense probably null
Posted On2013-01-08