Mutagenetix > Incidental Mutation

Incidental Mutation 'R4929:Haus6'

381075

Institutional Source

Beutler Lab

Gene Symbol

Haus6

Ensembl Gene

ENSMUSG00000038047

Gene Name

HAUS augmin-like complex, subunit 6

Synonyms

D4Ertd27e, 6230416J20Rik

MMRRC Submission

042530-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R4929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86497092-86530292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86513670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 331 (I331V)

Ref Sequence

ENSEMBL: ENSMUSP00000070504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070607]

AlphaFold

Q6NV99

Predicted Effect

probably benign
Transcript: ENSMUST00000070607
AA Change: I331V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: I331V

Domain	Start	End	E-Value	Type
Pfam:HAUS6_N	14	238	1.1e-77	PFAM
low complexity region	613	624	N/A	INTRINSIC
low complexity region	771	785	N/A	INTRINSIC
low complexity region	915	927	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128381

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E2.5 and E7.5 with delayed or incomplete clustering of microtubule-organizing centers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,273,467 (GRCm39)		noncoding transcript	Het
Abcd3	A	T	3: 121,562,395 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,259,108 (GRCm39)	R551C	probably damaging	Het
Adamtsl4	A	G	3: 95,585,315 (GRCm39)	C818R	probably damaging	Het
Arfgef3	T	A	10: 18,506,599 (GRCm39)	Q842L	probably benign	Het
Aurka	A	T	2: 172,212,326 (GRCm39)	V17E	probably benign	Het
Cdh24	C	T	14: 54,870,973 (GRCm39)	V132I	probably benign	Het
Cep57l1	T	C	10: 41,621,910 (GRCm39)	D2G	possibly damaging	Het
Cntn5	T	A	9: 9,976,400 (GRCm39)		probably null	Het
Col10a1	T	C	10: 34,271,120 (GRCm39)	I364T	probably benign	Het
Dpp6	G	A	5: 27,254,785 (GRCm39)	A67T	probably benign	Het
Dym	T	A	18: 75,376,357 (GRCm39)	V583E	probably damaging	Het
Efcab5	T	G	11: 76,994,209 (GRCm39)	K1259N	probably benign	Het
Ehbp1	T	G	11: 22,189,169 (GRCm39)	I78L	possibly damaging	Het
Epha1	C	A	6: 42,341,533 (GRCm39)	A469S	probably benign	Het
Fam135a	T	C	1: 24,069,081 (GRCm39)	D596G	probably benign	Het
Filip1	T	C	9: 79,727,029 (GRCm39)	N530S	probably benign	Het
Gm57858	G	A	3: 36,089,487 (GRCm39)	L146F	probably damaging	Het
Grhl2	A	G	15: 37,361,046 (GRCm39)	N610S	probably benign	Het
Ints2	G	T	11: 86,103,479 (GRCm39)	N1192K	possibly damaging	Het
Itga5	A	G	15: 103,261,662 (GRCm39)	V445A	probably benign	Het
Itga9	C	A	9: 118,636,317 (GRCm39)	D82E	probably damaging	Het
Jam2	G	A	16: 84,619,750 (GRCm39)		probably benign	Het
Klhl32	T	A	4: 24,709,030 (GRCm39)	I112F	probably damaging	Het
Lepr	A	G	4: 101,672,314 (GRCm39)	I1113V	probably benign	Het
Lrrc3b	C	A	14: 15,357,888 (GRCm38)	L239F	probably damaging	Het
Lzic	T	A	4: 149,572,585 (GRCm39)		probably null	Het
Mxra8	T	A	4: 155,927,118 (GRCm39)	F351I	probably damaging	Het
Naa40	A	G	19: 7,207,347 (GRCm39)	F126L	probably damaging	Het
Nbeal1	C	T	1: 60,277,813 (GRCm39)	S733F	probably damaging	Het
Olr1	T	C	6: 129,477,044 (GRCm39)	T74A	probably damaging	Het
Or52x1	A	G	7: 104,853,232 (GRCm39)	I106T	probably damaging	Het
Or5aq7	A	G	2: 86,938,527 (GRCm39)	F68S	possibly damaging	Het
Or5h17	A	C	16: 58,820,582 (GRCm39)	Y178S	probably damaging	Het
Pgam5	A	T	5: 110,413,691 (GRCm39)	V130D	probably damaging	Het
Pop4	A	G	7: 37,965,573 (GRCm39)	C115R	probably damaging	Het
Prpf18	A	T	2: 4,629,348 (GRCm39)		probably null	Het
Psg16	G	A	7: 16,829,031 (GRCm39)	R205H	possibly damaging	Het
Ptgr1	C	A	4: 58,981,879 (GRCm39)	A53S	probably benign	Het
Shank2	A	G	7: 143,965,008 (GRCm39)	D1451G	probably benign	Het
Slfn10-ps	A	G	11: 82,920,345 (GRCm39)		noncoding transcript	Het
Sox8	G	A	17: 25,789,330 (GRCm39)	A56V	probably benign	Het
Ssr3	A	G	3: 65,295,175 (GRCm39)	S113P	probably damaging	Het
Stx16	T	C	2: 173,938,721 (GRCm39)	Y296H	possibly damaging	Het
Tfcp2	A	T	15: 100,426,370 (GRCm39)	N60K	probably benign	Het
Thada	T	C	17: 84,751,654 (GRCm39)	T441A	probably benign	Het
Trf	G	T	9: 103,105,074 (GRCm39)		probably benign	Het
Vamp2	T	A	11: 68,979,488 (GRCm39)		probably benign	Het
Vmn2r105	A	T	17: 20,448,280 (GRCm39)	D181E	probably benign	Het
Vmn2r12	A	T	5: 109,239,544 (GRCm39)	Y340N	probably damaging	Het
Wasf2	C	A	4: 132,923,170 (GRCm39)	D493E	unknown	Het
Wdfy4	T	C	14: 32,769,213 (GRCm39)	D2084G	possibly damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfp703	T	A	8: 27,468,879 (GRCm39)	V181E	possibly damaging	Het

Other mutations in Haus6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Haus6	APN	4	86,526,218 (GRCm39)	missense	probably benign	0.32
IGL02307:Haus6	APN	4	86,502,072 (GRCm39)	missense	possibly damaging	0.53
IGL03113:Haus6	APN	4	86,501,343 (GRCm39)	nonsense	probably null
IGL03384:Haus6	APN	4	86,501,762 (GRCm39)	missense	probably benign
R0436:Haus6	UTSW	4	86,504,044 (GRCm39)	missense	probably benign	0.00
R0491:Haus6	UTSW	4	86,521,083 (GRCm39)	missense	possibly damaging	0.93
R0620:Haus6	UTSW	4	86,501,751 (GRCm39)	missense	possibly damaging	0.53
R1118:Haus6	UTSW	4	86,503,563 (GRCm39)	critical splice donor site	probably null
R1969:Haus6	UTSW	4	86,522,483 (GRCm39)	missense	probably damaging	0.99
R1985:Haus6	UTSW	4	86,511,846 (GRCm39)	missense	possibly damaging	0.96
R2213:Haus6	UTSW	4	86,500,229 (GRCm39)	missense	possibly damaging	0.53
R2448:Haus6	UTSW	4	86,507,238 (GRCm39)	missense	possibly damaging	0.53
R2567:Haus6	UTSW	4	86,504,122 (GRCm39)	nonsense	probably null
R2760:Haus6	UTSW	4	86,501,413 (GRCm39)	nonsense	probably null
R3714:Haus6	UTSW	4	86,521,104 (GRCm39)	missense	probably benign	0.01
R3962:Haus6	UTSW	4	86,530,041 (GRCm39)	missense	possibly damaging	0.85
R4180:Haus6	UTSW	4	86,501,811 (GRCm39)	missense	probably benign	0.00
R4736:Haus6	UTSW	4	86,518,986 (GRCm39)	critical splice donor site	probably null
R4738:Haus6	UTSW	4	86,518,986 (GRCm39)	critical splice donor site	probably null
R4933:Haus6	UTSW	4	86,503,524 (GRCm39)	intron	probably benign
R5027:Haus6	UTSW	4	86,523,933 (GRCm39)	missense	possibly damaging	0.92
R5199:Haus6	UTSW	4	86,501,222 (GRCm39)	missense	possibly damaging	0.85
R5240:Haus6	UTSW	4	86,501,415 (GRCm39)	missense	possibly damaging	0.86
R5580:Haus6	UTSW	4	86,517,503 (GRCm39)	missense	possibly damaging	0.73
R5781:Haus6	UTSW	4	86,519,500 (GRCm39)	missense	possibly damaging	0.92
R5865:Haus6	UTSW	4	86,504,594 (GRCm39)	missense	possibly damaging	0.73
R5926:Haus6	UTSW	4	86,517,553 (GRCm39)	missense	probably benign
R6154:Haus6	UTSW	4	86,501,993 (GRCm39)	missense	possibly damaging	0.96
R7166:Haus6	UTSW	4	86,501,924 (GRCm39)	missense	possibly damaging	0.72
R7183:Haus6	UTSW	4	86,501,989 (GRCm39)	missense	possibly damaging	0.53
R7418:Haus6	UTSW	4	86,513,010 (GRCm39)	missense	possibly damaging	0.73
R7843:Haus6	UTSW	4	86,504,578 (GRCm39)	missense	possibly damaging	0.85
R8893:Haus6	UTSW	4	86,501,364 (GRCm39)	missense	possibly damaging	0.73
R9386:Haus6	UTSW	4	86,502,101 (GRCm39)	missense	probably benign	0.33
R9449:Haus6	UTSW	4	86,513,665 (GRCm39)	missense	probably benign	0.00
Z1088:Haus6	UTSW	4	86,521,111 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACCAGTACGTCTTAACTTATTCACC -3'
(R):5'- AACATGAGTTCTGCAGGAGC -3'

Sequencing Primer
(F):5'- CGTCTTAACTTATTCACCAAAGCTG -3'
(R):5'- GCAGGAGCACCAAATGATCTTTATC -3'

Posted On

2016-04-15