Mutagenetix > Incidental Mutation

Incidental Mutation 'RF058:Haus4'

605335

Institutional Source

Beutler Lab

Gene Symbol

Haus4

Ensembl Gene

ENSMUSG00000022177

Gene Name

HAUS augmin-like complex, subunit 4

Synonyms

D14Ertd500e, 9430093H08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

RF058 (G1)

Quality Score

100.467

Status

Not validated

Chromosome

Chromosomal Location

54541785-54554616 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

CACTTAAAAAAAAAA to CA at 54550035 bp (GRCm38)

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 benign
Transcript: ENSMUST00000022784

SMART Domains

Protein: ENSMUSP00000022784
Gene: ENSMUSG00000022177

Domain	Start	End	E-Value	Type
Pfam:HAUS4	126	360	1.5e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226358

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

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: 22 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
3110021N24Rik	GAGCGCGGCC	G	4: 108,780,629	probably benign	Het
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG	6: 131,552,887	probably benign	Het
5430401F13Rik	CAG	CAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,901	probably benign	Het
Alg9	GGC	GGCTGC	9: 50,775,427	probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 4,995,583	probably benign	Het
Chd4	GC	GCTCCCTC	6: 125,122,131	probably benign	Het
Chga	CAG	CAGAAG	12: 102,561,416	probably benign	Het
Cort	GCCCACTCGT	G	4: 149,125,412	probably benign	Het
Flywch1	GT	GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT	17: 23,762,177	probably null	Het
Gab3	TCT	TCTACT	X: 75,000,002	probably benign	Het
Gabre	C	CCGGCTG	X: 72,270,063	probably benign	Het
Il2	AG	AGGGCTTGAAGTGG	3: 37,125,817	probably benign	Het
Il2	CTTGAAGTGG	CTTGAAGTGGGGATTGAAGTGG	3: 37,125,821	probably benign	Het
Kri1	TCCTCCTCC	TC	9: 21,281,066	probably null	Het
Krtap28-10	ACAGCCACCACAGCCACAGCCACCACAGC	ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC	1: 83,042,262	probably benign	Het
Mbd1	CGTCTTCGTCTGCATCTGCATCTGCA	C	18: 74,273,609	probably null	Het
Nefh	CCTC	CCTCGCCTGGGGACTTGGACTC	11: 4,941,021	probably benign	Het
Rtbdn	GCAGCG	GCAGCGACAGCG	8: 84,956,172	probably benign	Het
Setd1a	GTGGTGGT	GTGGTGGTATTGGTGGT	7: 127,785,318	probably benign	Het
Treml1	ACCT	A	17: 48,359,947	probably null	Het
Triobp	CTCCCTGTGCCCAAC	CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC	15: 78,967,044	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,680,761	probably benign	Het

Other mutations in Haus4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01903:Haus4	APN	14	54542429	missense	possibly damaging	0.92
R1938:Haus4	UTSW	14	54544276	missense	probably damaging	1.00
R4693:Haus4	UTSW	14	54549799	missense	probably benign	0.34
R4714:Haus4	UTSW	14	54542120	missense	probably benign	0.00
R4754:Haus4	UTSW	14	54549892	critical splice donor site	probably null
R4767:Haus4	UTSW	14	54548885	missense	probably damaging	0.98
R4835:Haus4	UTSW	14	54545835	splice site	probably null
R5230:Haus4	UTSW	14	54543794	missense	probably benign	0.12
R5380:Haus4	UTSW	14	54549775	missense	probably damaging	1.00
R5888:Haus4	UTSW	14	54544219	missense	probably benign	0.00
R6594:Haus4	UTSW	14	54543811	missense	possibly damaging	0.95
R7860:Haus4	UTSW	14	54542145	missense	probably damaging	0.99
R8816:Haus4	UTSW	14	54542253	missense	probably benign
RF044:Haus4	UTSW	14	54544120	frame shift	probably null
X0066:Haus4	UTSW	14	54549916	missense	probably benign	0.25
Z1177:Haus4	UTSW	14	54549960	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAACGGAACCCCTGTCTGAG -3'
(R):5'- ACAGCCAGCAACTCTTTATTTTCG -3'

Sequencing Primer
(F):5'- TGAGGCGGCTTCTCTCTCAAG -3'
(R):5'- GGCACCATCTCACTATGCTG -3'

Posted On

2019-12-04