Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Haus1'

281061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Haus1

Ensembl Gene

ENSMUSG00000041840

Gene Name

HAUS augmin-like complex, subunit 1

Synonyms

HEI-C, Ccdc5, spindle associated

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

77757567-77767780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77766911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 53 (L53Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048192]

AlphaFold

Q8BHX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048192
AA Change: L53Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035826
Gene: ENSMUSG00000041840
AA Change: L53Q

Domain	Start	End	E-Value	Type
coiled coil region	49	79	N/A	INTRINSIC
coiled coil region	128	178	N/A	INTRINSIC
low complexity region	210	229	N/A	INTRINSIC
coiled coil region	249	277	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HAUS1 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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946	W262*	probably null	Het
Gtdc1	A	T	2: 44,575,443	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Hgfac	A	G	5: 35,046,587	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732		probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396	E683V	probably benign	Het
Tprkb	T	C	6: 85,927,911	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	possibly damaging	Het

Other mutations in Haus1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0116:Haus1	UTSW	18	77762070	nonsense	probably null
R1086:Haus1	UTSW	18	77766853	splice site	probably benign
R1580:Haus1	UTSW	18	77766920	missense	probably damaging	1.00
R6604:Haus1	UTSW	18	77764097	missense	probably damaging	0.99
R7101:Haus1	UTSW	18	77766870	missense	possibly damaging	0.94
R7229:Haus1	UTSW	18	77764134	missense	probably benign	0.00
R7302:Haus1	UTSW	18	77760966	missense	probably benign	0.05
R9696:Haus1	UTSW	18	77759502	missense	probably benign

Posted On

2015-04-16