Incidental Mutation 'RF044:Haus4'
ID 604974
Institutional Source Beutler Lab
Gene Symbol Haus4
Ensembl Gene ENSMUSG00000022177
Gene Name HAUS augmin-like complex, subunit 4
Synonyms 9430093H08Rik, D14Ertd500e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # RF044 (G1)
Quality Score 214.458
Status Not validated
Chromosome 14
Chromosomal Location 54779242-54792073 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG to AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG at 54781577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022784] [ENSMUST00000226358]
AlphaFold Q8BFT2
Predicted Effect probably null
Transcript: ENSMUST00000022784
SMART Domains Protein: ENSMUSP00000022784
Gene: ENSMUSG00000022177

DomainStartEndE-ValueType
Pfam:HAUS4 126 360 1.5e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226358
Predicted Effect probably benign
Transcript: ENSMUST00000226832
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik TG TGTGGCTGCCG 1: 82,891,310 (GRCm39) probably benign Het
Blm CTCC CTCCTCCTCCTCATCC 7: 80,162,678 (GRCm39) probably benign Het
Cacna1f GAG GAGTAG X: 7,486,296 (GRCm39) probably null Het
Ccdc85c GCC GCCACC 12: 108,240,871 (GRCm39) probably benign Het
Chga AGC AGCGGC 12: 102,527,655 (GRCm39) probably benign Het
Crtam TTCTTGATCTGAA T 9: 40,895,650 (GRCm39) probably null Het
Dspp TGACAGCAGCGACAGCAG TGACAGCAGCGACAGCAGAGACAGCAGCGACAGCAG 5: 104,326,290 (GRCm39) probably benign Het
Efhd2 CCGCCG CCGCCGACGCCG 4: 141,602,079 (GRCm39) probably benign Het
F830016B08Rik AAAAAA AAAAAAAAA 18: 60,433,010 (GRCm39) probably benign Het
Gab3 TCT TCTCCT X: 74,043,611 (GRCm39) probably benign Het
Gabre CTC CTCCGGATC X: 71,313,667 (GRCm39) probably benign Het
Gykl1 G A 18: 52,827,488 (GRCm39) R232Q probably benign Het
Igf1r GATGGAGC GATGGAGCTGGATATGGAGC 7: 67,875,927 (GRCm39) probably benign Het
Irag2 TG TGAGCACATCG 6: 145,119,516 (GRCm39) probably benign Het
Krtap28-10 CCACAG CCACAGACACAG 1: 83,019,852 (GRCm39) probably benign Het
Maml2 ACAGCAGCAGCAACAGCAGCAGCAGCAGCA ACAGCAACAGCAGCAGCAGCAGCA 9: 13,532,752 (GRCm39) probably benign Het
Map1a CAGCTCCAGCTCCAGCTCCAGCTCCA CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAAGCTCCAGCTCCAGCTCCAGCTCCA 2: 121,136,774 (GRCm39) probably benign Het
Mapk6 CCAC CCACCTCAC 9: 75,295,542 (GRCm39) probably null Het
Morn4 GTGAG GTGAGTCAAGCATTGAG 19: 42,064,553 (GRCm39) probably null Het
Nefh CCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG 11: 4,891,021 (GRCm39) probably benign Het
Nefh CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA 11: 4,891,016 (GRCm39) probably benign Het
Nefh TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,023 (GRCm39) probably benign Het
Nolc1 CAGCAGC CAGCAGCAGAAGCAGC 19: 46,069,810 (GRCm39) probably benign Het
Or10n7-ps1 AAAATA AAAATAAATA 9: 39,598,043 (GRCm39) probably null Het
Phc1 TG TGCTGCGG 6: 122,300,559 (GRCm39) probably benign Het
Pla2g4e AGGG A 2: 120,075,205 (GRCm39) probably benign Het
Prr36 TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC 8: 4,266,273 (GRCm39) probably benign Het
Ptdss1 G T 13: 67,093,412 (GRCm39) S84I possibly damaging Het
Ren1 ACCGC AC 1: 133,278,519 (GRCm39) probably benign Het
Rinl G T 7: 28,496,988 (GRCm39) G496V probably damaging Het
Ryr3 CTGA C 2: 112,740,869 (GRCm39) probably benign Het
Sbp A AAAAAGATGATGACAC 17: 24,164,340 (GRCm39) probably benign Het
Slc39a4 GTC GTCATCATGATCACCATGGTCACCATGATCACTGTGTTC 15: 76,499,070 (GRCm39) probably benign Het
Spaca1 TCTCGC TCTCGCGCTCGC 4: 34,049,846 (GRCm39) probably benign Het
Spaca1 TCGC TCGCTCGCGC 4: 34,049,854 (GRCm39) probably benign Het
Spmap2l ATCCTCCCCAGTCCCGCAAGGCCAG ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG 5: 77,164,252 (GRCm39) probably benign Het
Strn C CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTA 17: 78,984,717 (GRCm39) probably null Het
Tmem59 T TGTTTGTTG 4: 107,047,729 (GRCm39) probably benign Het
Tob1 GCA GCAACA 11: 94,105,287 (GRCm39) probably benign Het
Zfp683 TGTGG TGTGGTGG 4: 133,786,185 (GRCm39) probably benign 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
R4767:Haus4 UTSW 14 54,786,342 (GRCm39) missense probably damaging 0.98
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
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'- CTAAGAGAAGCAAGCCCTGG -3'
(R):5'- GCCCAGATACTGATGGAGAC -3'

Sequencing Primer
(F):5'- GCCCTGGCTTAGCTGAAG -3'
(R):5'- TGTGGACGCTGACAGAGGTC -3'
Posted On 2019-12-04