Mutagenetix > Incidental Mutation

Incidental Mutation 'R5123:Haus5'

393400

Institutional Source

Beutler Lab

Gene Symbol

Haus5

Ensembl Gene

ENSMUSG00000078762

Gene Name

HAUS augmin-like complex, subunit 5

Synonyms

2310022K01Rik

MMRRC Submission

042711-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R5123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30653711-30664994 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30654226 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 575 (N575K)

Ref Sequence

ENSEMBL: ENSMUSP00000019697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019697] [ENSMUST00000042726] [ENSMUST00000108141] [ENSMUST00000132862]

AlphaFold

Q9D786

Predicted Effect

probably benign
Transcript: ENSMUST00000019697
AA Change: N575K

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000019697
Gene: ENSMUSG00000078762
AA Change: N575K

Domain	Start	End	E-Value	Type
Pfam:HAUS5	7	617	9.8e-181	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042726

SMART Domains

Protein: ENSMUSP00000040005
Gene: ENSMUSG00000036733

Domain	Start	End	E-Value	Type
low complexity region	6	31	N/A	INTRINSIC
low complexity region	75	86	N/A	INTRINSIC
low complexity region	101	126	N/A	INTRINSIC
low complexity region	192	217	N/A	INTRINSIC
low complexity region	220	243	N/A	INTRINSIC
low complexity region	247	277	N/A	INTRINSIC
low complexity region	279	333	N/A	INTRINSIC
low complexity region	339	355	N/A	INTRINSIC
RRM	380	453	1.11e-21	SMART
low complexity region	467	474	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108141

SMART Domains

Protein: ENSMUSP00000103776
Gene: ENSMUSG00000036733

Domain	Start	End	E-Value	Type
low complexity region	6	31	N/A	INTRINSIC
low complexity region	75	86	N/A	INTRINSIC
low complexity region	101	126	N/A	INTRINSIC
low complexity region	163	188	N/A	INTRINSIC
low complexity region	191	214	N/A	INTRINSIC
low complexity region	218	248	N/A	INTRINSIC
low complexity region	250	304	N/A	INTRINSIC
low complexity region	310	326	N/A	INTRINSIC
RRM	351	424	1.11e-21	SMART
low complexity region	438	445	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126511

Predicted Effect

probably benign
Transcript: ENSMUST00000132862

SMART Domains

Protein: ENSMUSP00000121739
Gene: ENSMUSG00000078762

Domain	Start	End	E-Value	Type
Pfam:HAUS5	5	515	4.4e-182	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181529

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HAUS5 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,384,460	G542D	possibly damaging	Het
Adh6b	A	G	3: 138,357,689	Y343C	probably damaging	Het
Adsl	T	A	15: 80,952,294		probably null	Het
Apob	T	A	12: 8,007,630		probably null	Het
Atp6ap1l	T	A	13: 90,898,898		probably benign	Het
Cacnb3	A	G	15: 98,639,869	D74G	probably damaging	Het
Clca3a2	T	A	3: 144,806,343	D544V	probably damaging	Het
Col3a1	G	A	1: 45,333,596		probably benign	Het
D7Ertd443e	A	G	7: 134,349,668		probably null	Het
Dscam	T	C	16: 96,772,437	D775G	probably damaging	Het
Eif2b3	T	A	4: 117,022,211	M16K	probably damaging	Het
Eml5	T	C	12: 98,874,512	Y281C	probably damaging	Het
Epha2	T	A	4: 141,308,865	L204Q	possibly damaging	Het
Filip1l	A	C	16: 57,570,662	I538L	possibly damaging	Het
Gcnt2	T	A	13: 40,918,355	V158D	probably damaging	Het
Gnaq	A	G	19: 16,332,085	N162S	probably benign	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Igsf5	A	G	16: 96,373,079	D103G	probably damaging	Het
Myo10	A	G	15: 25,726,483	D297G	possibly damaging	Het
Net1	C	T	13: 3,886,623	R314H	probably damaging	Het
Olfr1273-ps	C	A	2: 90,296,168	R231L	probably benign	Het
Olfr1301	T	A	2: 111,754,552	V101D	probably damaging	Het
Pcsk4	C	A	10: 80,322,145	Q586H	probably null	Het
Pramef6	A	T	4: 143,897,136	M156K	probably benign	Het
Prss1	A	G	6: 41,463,197	D156G	possibly damaging	Het
Rnf133	A	T	6: 23,649,260	N266K	probably damaging	Het
Setd2	G	T	9: 110,617,527	A2482S	possibly damaging	Het
Sgo2a	A	T	1: 58,016,567	S637C	probably damaging	Het
Slc2a5	C	A	4: 150,139,805	S290*	probably null	Het
Spata6	T	G	4: 111,768,795	H120Q	possibly damaging	Het
Stk11	G	A	10: 80,127,941	V194I	probably damaging	Het
Tkt	T	C	14: 30,565,646	V199A	probably benign	Het
Traf3	G	A	12: 111,243,518	V183M	possibly damaging	Het
Trappc11	T	C	8: 47,513,402	Y483C	probably damaging	Het
Trappc9	T	C	15: 72,913,366		probably benign	Het
Trim59	T	C	3: 69,037,734	H91R	probably benign	Het
Ttc21a	A	G	9: 119,952,212	S484G	probably benign	Het
Usp13	A	T	3: 32,915,798	H691L	probably benign	Het
Vmn1r238	T	C	18: 3,123,243	Y57C	probably benign	Het
Vmn2r111	T	A	17: 22,571,143	Q294L	possibly damaging	Het
Vmn2r17	A	G	5: 109,427,908	D215G	possibly damaging	Het
Wdr66	A	G	5: 123,273,633		probably benign	Het
Zfp280b	A	G	10: 76,039,349	D354G	probably benign	Het
Zfp607a	A	G	7: 27,879,098	H531R	probably damaging	Het
Zfp74	A	T	7: 29,934,733	C517S	probably damaging	Het

Other mutations in Haus5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Haus5	APN	7	30663294	splice site	probably benign
IGL02422:Haus5	APN	7	30660146	missense	possibly damaging	0.95
IGL02427:Haus5	APN	7	30661771	missense	probably benign
IGL02626:Haus5	APN	7	30657250	missense	probably damaging	1.00
IGL02695:Haus5	APN	7	30663277	missense	probably damaging	1.00
R0046:Haus5	UTSW	7	30654180	missense	probably benign	0.10
R0046:Haus5	UTSW	7	30654180	missense	probably benign	0.10
R0511:Haus5	UTSW	7	30659067	missense	probably damaging	1.00
R0547:Haus5	UTSW	7	30659083	missense	probably damaging	0.96
R1447:Haus5	UTSW	7	30661791	splice site	probably null
R1711:Haus5	UTSW	7	30657903	nonsense	probably null
R1852:Haus5	UTSW	7	30658501	critical splice donor site	probably null
R1901:Haus5	UTSW	7	30657245	missense	probably damaging	1.00
R2029:Haus5	UTSW	7	30659400	missense	possibly damaging	0.95
R4832:Haus5	UTSW	7	30657027	missense	probably damaging	0.97
R4865:Haus5	UTSW	7	30658555	missense	probably damaging	1.00
R5168:Haus5	UTSW	7	30657711	missense	possibly damaging	0.95
R5492:Haus5	UTSW	7	30658955	missense	possibly damaging	0.69
R6293:Haus5	UTSW	7	30658976	nonsense	probably null
R6296:Haus5	UTSW	7	30658976	nonsense	probably null
R6297:Haus5	UTSW	7	30658976	nonsense	probably null
R6332:Haus5	UTSW	7	30658976	nonsense	probably null
R6334:Haus5	UTSW	7	30658976	nonsense	probably null
R6964:Haus5	UTSW	7	30657615	missense	probably benign	0.41
R7095:Haus5	UTSW	7	30659572	missense	probably benign	0.06
R7348:Haus5	UTSW	7	30656966	missense	possibly damaging	0.94
R7740:Haus5	UTSW	7	30663253	missense	possibly damaging	0.92
R8329:Haus5	UTSW	7	30659559	missense	possibly damaging	0.85
U24488:Haus5	UTSW	7	30658976	nonsense	probably null
Z1186:Haus5	UTSW	7	30657627	missense	probably damaging	1.00
Z1186:Haus5	UTSW	7	30658907	missense	probably damaging	0.99
Z1186:Haus5	UTSW	7	30661647	missense	probably benign
Z1186:Haus5	UTSW	7	30661875	missense	probably damaging	0.99
Z1186:Haus5	UTSW	7	30663116	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATTGCAAGTCTTGACTCTGCTTC -3'
(R):5'- AAGCTGTGCCTGTGTCAGAG -3'

Sequencing Primer
(F):5'- TACCTGGGCCTACACTCAG -3'
(R):5'- CCTGTGTCAGAGCCTGGTAG -3'

Posted On

2016-06-15