Incidental Mutation 'R4021:Haus2'
ID 313213
Institutional Source Beutler Lab
Gene Symbol Haus2
Ensembl Gene ENSMUSG00000027285
Gene Name HAUS augmin-like complex, subunit 2
Synonyms 1700101G24Rik, Cep27, 2410007P03Rik
MMRRC Submission 040955-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R4021 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120609383-120621560 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120615930 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 111 (Q111L)
Ref Sequence ENSEMBL: ENSMUSP00000117299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028741] [ENSMUST00000110706] [ENSMUST00000124187]
AlphaFold Q9CQS9
Predicted Effect probably benign
Transcript: ENSMUST00000028741
SMART Domains Protein: ENSMUSP00000028741
Gene: ENSMUSG00000027285

DomainStartEndE-ValueType
Pfam:HAUS2 4 67 1.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110706
AA Change: Q79L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106334
Gene: ENSMUSG00000027285
AA Change: Q79L

DomainStartEndE-ValueType
Pfam:HAUS2 1 199 2.4e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124187
AA Change: Q111L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117299
Gene: ENSMUSG00000027285
AA Change: Q111L

DomainStartEndE-ValueType
Pfam:HAUS2 5 215 1.2e-62 PFAM
Meta Mutation Damage Score 0.1152 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik A G 3: 6,620,088 L102P probably benign Het
Adcy4 C T 14: 55,775,178 probably null Het
Adgrf5 A T 17: 43,430,714 probably benign Het
Atp11a A G 8: 12,842,938 K643R probably benign Het
Cacna2d2 C T 9: 107,514,058 T428M probably damaging Het
Cdh22 T C 2: 165,143,673 D331G possibly damaging Het
Chmp3 T C 6: 71,574,238 probably null Het
Csnk2a1 C T 2: 152,258,689 T127M probably damaging Het
Cyp2c55 T A 19: 39,035,434 probably null Het
Ddias G T 7: 92,861,478 D105E possibly damaging Het
Dnajb11 A G 16: 22,869,446 D238G probably damaging Het
Dock7 T C 4: 99,003,920 probably null Het
Dock9 T C 14: 121,626,912 K761E possibly damaging Het
Entpd7 G A 19: 43,691,158 R50Q probably benign Het
Fam107b G A 2: 3,778,474 R238Q probably damaging Het
Fam186a G C 15: 99,941,799 T2188S possibly damaging Het
Farsa A G 8: 84,868,870 T465A probably damaging Het
Fibp T C 19: 5,460,734 probably null Het
Flywch2 G A 17: 23,777,039 T128I possibly damaging Het
Foxi2 A T 7: 135,410,530 D49V probably damaging Het
Fstl5 A G 3: 76,628,975 T31A probably benign Het
Gabbr2 G A 4: 46,846,435 T158I probably damaging Het
Gbp4 T A 5: 105,120,923 R455W probably damaging Het
Gm11492 A G 11: 87,567,280 E160G probably damaging Het
Got2 T G 8: 95,877,753 D69A probably damaging Het
Gpr63 T C 4: 25,008,470 F398S possibly damaging Het
Gtf2h4 T C 17: 35,670,664 M186V probably benign Het
Hexdc T C 11: 121,218,161 probably null Het
Igf2r T A 17: 12,748,751 N27I probably damaging Het
Itgax T A 7: 128,133,139 probably null Het
Krit1 T A 5: 3,832,132 I596K probably benign Het
Lair1 A G 7: 4,055,916 probably null Het
Lilra6 G T 7: 3,911,418 T276K probably benign Het
Mast4 G A 13: 102,739,321 R1112* probably null Het
Mrgprb1 A T 7: 48,447,123 I347N possibly damaging Het
Mroh2b T A 15: 4,925,100 C682S possibly damaging Het
Mtif3 T A 5: 146,955,678 R249S possibly damaging Het
Mycbp2 C T 14: 103,152,157 E3406K probably damaging Het
Myo15b A G 11: 115,873,505 H1315R probably benign Het
Nlrp2 A G 7: 5,325,012 F681L probably benign Het
Olfr1157 T A 2: 87,962,722 T57S possibly damaging Het
Olfr703 T A 7: 106,845,019 M136K probably damaging Het
Pear1 T C 3: 87,756,222 N390D possibly damaging Het
Ranbp17 G A 11: 33,479,189 A352V probably benign Het
Rnf17 C T 14: 56,460,001 H451Y probably damaging Het
Sag A T 1: 87,821,305 probably null Het
Slc22a2 T C 17: 12,584,489 L70P probably damaging Het
Slc32a1 C T 2: 158,611,232 probably benign Het
Spag17 A T 3: 100,049,230 I881F probably benign Het
Taar7a G T 10: 23,993,386 N32K probably benign Het
Tbck C A 3: 132,727,134 T435K probably damaging Het
Tril T G 6: 53,819,019 D406A probably damaging Het
Tshz2 G A 2: 169,885,862 D324N probably damaging Het
Vps13d A G 4: 145,075,061 V2349A possibly damaging Het
Wdr6 A G 9: 108,575,206 W493R probably damaging Het
Wdr72 G A 9: 74,151,593 V323I probably benign Het
Zfp488 T A 14: 33,971,153 M18L probably benign Het
Zic4 A G 9: 91,379,036 T108A probably benign Het
Znrf3 T C 11: 5,281,278 D745G possibly damaging Het
Other mutations in Haus2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Haus2 APN 2 120615942 missense probably benign 0.00
R0003:Haus2 UTSW 2 120618968 splice site probably benign
R4717:Haus2 UTSW 2 120619102 missense probably benign 0.00
R4939:Haus2 UTSW 2 120619036 missense probably damaging 1.00
R7862:Haus2 UTSW 2 120613089 missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- GGATCTCTGTTGCCTAGAGTAG -3'
(R):5'- AAAAGCTAACTTAAAAGGGCATGC -3'

Sequencing Primer
(F):5'- TCCATTATCATCAAGGCGGG -3'
(R):5'- TCCGTAATGAGATCTGACGC -3'
Posted On 2015-04-30