Incidental Mutation 'R4767:Haus4'
ID 430186
Institutional Source Beutler Lab
Gene Symbol Haus4
Ensembl Gene ENSMUSG00000022177
Gene Name HAUS augmin-like complex, subunit 4
Synonyms 9430093H08Rik, D14Ertd500e
MMRRC Submission 042408-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R4767 (G1)
Quality Score 34
Status Validated
Chromosome 14
Chromosomal Location 54779242-54792073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54786342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 149 (E149G)
Ref Sequence ENSEMBL: ENSMUSP00000022784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022784] [ENSMUST00000226358]
AlphaFold Q8BFT2
Predicted Effect probably damaging
Transcript: ENSMUST00000022784
AA Change: E149G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022784
Gene: ENSMUSG00000022177
AA Change: E149G

DomainStartEndE-ValueType
Pfam:HAUS4 126 360 1.5e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226250
Predicted Effect probably damaging
Transcript: ENSMUST00000226358
AA Change: E149G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228883
Meta Mutation Damage Score 0.2020 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 95% (62/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,029,804 (GRCm39) probably null Het
Aig1 T C 10: 13,677,602 (GRCm39) N130S probably damaging Het
Alx1 A T 10: 102,861,047 (GRCm39) Y160* probably null Het
Ap4e1 T C 2: 126,902,358 (GRCm39) I755T probably benign Het
Apoc3 C A 9: 46,145,833 (GRCm39) E21* probably null Het
Atp9b G T 18: 80,796,285 (GRCm39) H919Q probably damaging Het
Cemip T G 7: 83,622,514 (GRCm39) Y555S probably damaging Het
Cic T C 7: 24,971,025 (GRCm39) V252A possibly damaging Het
Cracr2a A T 6: 127,588,470 (GRCm39) N210Y probably damaging Het
Crocc2 G A 1: 93,130,578 (GRCm39) R953Q possibly damaging Het
Csnk1d A G 11: 120,859,954 (GRCm39) S318P probably benign Het
Ddx21 A G 10: 62,427,751 (GRCm39) L384P probably damaging Het
Dnah5 C T 15: 28,270,620 (GRCm39) T974I probably benign Het
Duox1 A G 2: 122,163,922 (GRCm39) Y863C possibly damaging Het
Epg5 C A 18: 78,066,498 (GRCm39) P2133T possibly damaging Het
Ephb6 A T 6: 41,591,119 (GRCm39) Q92L possibly damaging Het
Ercc4 C A 16: 12,939,959 (GRCm39) A73D probably damaging Het
Eva1c A T 16: 90,701,235 (GRCm39) Y290F probably damaging Het
Galnt5 T A 2: 57,918,156 (GRCm39) V798E possibly damaging Het
Ighv1-13 A G 12: 114,594,556 (GRCm39) Y86C unknown Het
Igkv9-120 G T 6: 68,027,351 (GRCm39) R88S possibly damaging Het
Lama3 T C 18: 12,633,620 (GRCm39) V1584A probably benign Het
Lamb1 A G 12: 31,358,010 (GRCm39) E1119G probably damaging Het
Lao1 T C 4: 118,825,185 (GRCm39) L335P probably damaging Het
Mindy4 A G 6: 55,237,550 (GRCm39) D375G probably damaging Het
Myo5a T C 9: 75,051,358 (GRCm39) I317T probably damaging Het
Nhlrc2 G A 19: 56,558,898 (GRCm39) V128I probably benign Het
Nlrp2 C T 7: 5,331,023 (GRCm39) D458N probably damaging Het
Or1j18 A T 2: 36,624,335 (GRCm39) M1L probably benign Het
Or1o1 T A 17: 37,717,091 (GRCm39) C217* probably null Het
Or5a1 G T 19: 12,097,300 (GRCm39) H247N probably damaging Het
Or8g24 T C 9: 38,989,988 (GRCm39) T18A possibly damaging Het
Or9q2 A T 19: 13,772,409 (GRCm39) C189S probably damaging Het
Parp8 T C 13: 117,005,072 (GRCm39) H663R probably damaging Het
Pax6 T C 2: 105,525,705 (GRCm39) S377P probably benign Het
Pi15 A G 1: 17,672,990 (GRCm39) D63G probably benign Het
Plaa A G 4: 94,474,495 (GRCm39) probably benign Het
Rbm5 C A 9: 107,622,412 (GRCm39) W546C probably damaging Het
Rnf123 C A 9: 107,929,288 (GRCm39) C1257F probably damaging Het
Rnf185 A G 11: 3,382,551 (GRCm39) S45P possibly damaging Het
Sh3bp1 T C 15: 78,788,697 (GRCm39) S241P possibly damaging Het
Slfn8 G A 11: 82,894,023 (GRCm39) A872V possibly damaging Het
Smoc1 G A 12: 81,151,547 (GRCm39) probably null Het
Sox14 A T 9: 99,757,686 (GRCm39) W18R probably damaging Het
Spata31d1a T C 13: 59,848,969 (GRCm39) E1053G probably benign Het
Syne1 T A 10: 5,294,866 (GRCm39) K1246* probably null Het
Tbrg4 A C 11: 6,570,909 (GRCm39) S188A probably benign Het
Thnsl2 A T 6: 71,111,279 (GRCm39) D196E probably damaging Het
Tmem266 C T 9: 55,288,025 (GRCm39) T34I probably damaging Het
Tmem59l C A 8: 70,938,748 (GRCm39) R111L probably benign Het
Tpr T C 1: 150,306,280 (GRCm39) probably benign Het
Trpc6 T C 9: 8,643,687 (GRCm39) S491P probably damaging Het
Tspan10 A T 11: 120,336,992 (GRCm39) N254I probably damaging Het
Ubox5 A T 2: 130,433,814 (GRCm39) L511Q probably damaging Het
Vmn1r183 TATCCATC TATC 7: 23,754,531 (GRCm39) probably null Het
Vmn2r4 C T 3: 64,298,397 (GRCm39) C577Y probably damaging Het
Vmn2r86 A T 10: 130,291,606 (GRCm39) M53K probably benign Het
Zfp948 T A 17: 21,808,569 (GRCm39) I587N possibly damaging Het
Other mutations in Haus4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01903:Haus4 APN 14 54,779,886 (GRCm39) missense possibly damaging 0.92
R1938:Haus4 UTSW 14 54,781,733 (GRCm39) missense probably damaging 1.00
R4693:Haus4 UTSW 14 54,787,256 (GRCm39) missense probably benign 0.34
R4714:Haus4 UTSW 14 54,779,577 (GRCm39) missense probably benign 0.00
R4754:Haus4 UTSW 14 54,787,349 (GRCm39) critical splice donor site probably null
R4835:Haus4 UTSW 14 54,783,292 (GRCm39) splice site probably null
R5230:Haus4 UTSW 14 54,781,251 (GRCm39) missense probably benign 0.12
R5380:Haus4 UTSW 14 54,787,232 (GRCm39) missense probably damaging 1.00
R5888:Haus4 UTSW 14 54,781,676 (GRCm39) missense probably benign 0.00
R6594:Haus4 UTSW 14 54,781,268 (GRCm39) missense possibly damaging 0.95
R7860:Haus4 UTSW 14 54,779,602 (GRCm39) missense probably damaging 0.99
R8816:Haus4 UTSW 14 54,779,710 (GRCm39) missense probably benign
RF044:Haus4 UTSW 14 54,781,577 (GRCm39) frame shift probably null
RF058:Haus4 UTSW 14 54,787,492 (GRCm39) critical splice acceptor site probably benign
X0066:Haus4 UTSW 14 54,787,373 (GRCm39) missense probably benign 0.25
Z1177:Haus4 UTSW 14 54,787,417 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAAAATGTTGGCTCACAAGAGG -3'
(R):5'- GGAAGACATGGGGATGAAGTTCTTT -3'

Sequencing Primer
(F):5'- GAGGTCTTGAGTTCAAATCCCAGC -3'
(R):5'- GTTTCATGAGACCCTTGAAC -3'
Posted On 2016-09-16