Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Haus6'

380706

Institutional Source

Beutler Lab

Gene Symbol

Haus6

Ensembl Gene

ENSMUSG00000038047

Gene Name

HAUS augmin-like complex, subunit 6

Synonyms

D4Ertd27e, 6230416J20Rik

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86497092-86530292 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 86503524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070504 (fasta)

Gene Model

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

AlphaFold

Q6NV99

Predicted Effect

probably benign
Transcript: ENSMUST00000070607

SMART Domains

Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158333

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,276,226 (GRCm39)	E643G	probably damaging	Het
Abca2	T	C	2: 25,334,839 (GRCm39)	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,416 (GRCm39)	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,648,386 (GRCm39)	M478K	probably benign	Het
Akirin1	G	A	4: 123,630,651 (GRCm39)	S191F	probably damaging	Het
Aoc1l3	T	C	6: 48,964,426 (GRCm39)	S145P	probably damaging	Het
Aurkb	T	C	11: 68,938,970 (GRCm39)		probably benign	Het
Cabyr	T	C	18: 12,877,549 (GRCm39)		probably benign	Het
Ccp110	A	G	7: 118,324,542 (GRCm39)	E688G	probably damaging	Het
Champ1	T	A	8: 13,929,137 (GRCm39)	S432T	probably benign	Het
Crybg1	T	A	10: 43,875,209 (GRCm39)	N633I	probably damaging	Het
Dagla	A	T	19: 10,247,079 (GRCm39)		probably null	Het
Dkkl1	A	T	7: 44,860,949 (GRCm39)	L10Q	probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fndc7	G	T	3: 108,783,986 (GRCm39)	Q208K	probably benign	Het
Gins4	A	T	8: 23,724,796 (GRCm39)	C53S	probably damaging	Het
Gja8	T	A	3: 96,826,351 (GRCm39)		probably benign	Het
Golph3l	T	A	3: 95,524,734 (GRCm39)	N328K	probably benign	Het
Hdac5	A	G	11: 102,091,389 (GRCm39)		probably benign	Het
Ide	A	G	19: 37,255,155 (GRCm39)	Y883H	unknown	Het
Igf2r	A	G	17: 12,910,764 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,943,446 (GRCm39)	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,079,063 (GRCm39)		probably null	Het
Lancl1	A	T	1: 67,060,193 (GRCm39)	N77K	probably benign	Het
Lyst	T	A	13: 13,812,349 (GRCm39)	N920K	probably damaging	Het
Lyst	G	A	13: 13,933,963 (GRCm39)	V3554I	probably benign	Het
Map1a	G	A	2: 121,136,386 (GRCm39)	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,384,734 (GRCm39)		probably benign	Het
Myo10	C	A	15: 25,781,204 (GRCm39)	Q154K	probably damaging	Het
Or2a7	C	T	6: 43,151,255 (GRCm39)	L112F	probably benign	Het
Or2h15	A	G	17: 38,441,441 (GRCm39)	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,825,267 (GRCm39)	V753M	probably benign	Het
Pnn	T	A	12: 59,117,013 (GRCm39)	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,540 (GRCm39)	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,855,049 (GRCm39)	D109E	probably benign	Het
Prr15l	G	A	11: 96,825,588 (GRCm39)	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,339 (GRCm39)	F219S	probably benign	Het
Rnpep	C	A	1: 135,194,764 (GRCm39)		probably benign	Het
Ryr1	T	C	7: 28,803,723 (GRCm39)	T643A	probably damaging	Het
Ryr2	A	T	13: 11,960,831 (GRCm39)	C36S	probably damaging	Het
Shc3	G	T	13: 51,596,805 (GRCm39)	T406N	probably benign	Het
Slit3	G	T	11: 35,579,420 (GRCm39)	G1199V	probably damaging	Het
Spata6l	G	T	19: 28,919,175 (GRCm39)	H195N	possibly damaging	Het
Sptbn5	G	A	2: 119,880,601 (GRCm39)		noncoding transcript	Het
St8sia6	T	C	2: 13,670,253 (GRCm39)	N236D	probably damaging	Het
Stpg1	A	T	4: 135,233,727 (GRCm39)	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,742,550 (GRCm39)	I59N	probably damaging	Het
Vmn1r208	T	G	13: 22,956,958 (GRCm39)	I180L	probably benign	Het
Vmn2r51	A	T	7: 9,832,247 (GRCm39)	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,553,402 (GRCm39)	I618N	probably damaging	Het
Wrn	T	C	8: 33,812,371 (GRCm39)	N182S	probably benign	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,521 (GRCm39)	Y30H	probably damaging	Het
Zmynd8	A	G	2: 165,676,871 (GRCm39)	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,755,571 (GRCm39)	L110P	probably 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
R4929:Haus6	UTSW	4	86,513,670 (GRCm39)	missense	probably benign	0.03
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'- CTCAGAAGTCACAAAAGATTACTGACG -3'
(R):5'- ACTGGTTTGCAGAGGACCTG -3'

Sequencing Primer
(F):5'- CTGACGAAAGATGGCTATAAAACTTG -3'
(R):5'- CCTCTTGTAGGTTGCCAGAG -3'

Posted On

2016-04-15