Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02307:Haus6'

287638

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Haus6

Ensembl Gene

ENSMUSG00000038047

Gene Name

HAUS augmin-like complex, subunit 6

Synonyms

D4Ertd27e, 6230416J20Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

IGL02307

Quality Score

Status

Chromosome

Chromosomal Location

86497092-86530292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86502072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 600 (T600A)

Ref Sequence

ENSEMBL: ENSMUSP00000070504 (fasta)

Gene Model

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

AlphaFold

Q6NV99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070607
AA Change: T600A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: T600A

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

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Ankrd28	A	G	14: 31,455,665 (GRCm39)	C417R	probably damaging	Het
Astn1	C	T	1: 158,502,184 (GRCm39)	R1133C	probably damaging	Het
Bdp1	C	A	13: 100,229,946 (GRCm39)	G256V	probably damaging	Het
Cald1	A	G	6: 34,730,390 (GRCm39)	K252E	probably damaging	Het
Ccdc141	T	C	2: 76,859,686 (GRCm39)	E985G	probably damaging	Het
Cdc23	A	G	18: 34,774,442 (GRCm39)	I279T	possibly damaging	Het
Col16a1	C	T	4: 129,952,802 (GRCm39)	P416L	probably damaging	Het
Coro1a	T	C	7: 126,300,736 (GRCm39)	D197G	probably damaging	Het
Ctnnd2	C	T	15: 30,647,357 (GRCm39)	T351I	possibly damaging	Het
Fam76b	A	G	9: 13,755,332 (GRCm39)	N313S	probably damaging	Het
Fbxw20	C	A	9: 109,062,601 (GRCm39)	W75L	possibly damaging	Het
Gjd2	T	C	2: 113,842,394 (GRCm39)	T28A	possibly damaging	Het
Glyctk	A	C	9: 106,032,963 (GRCm39)	L350R	possibly damaging	Het
Gm20726	A	T	14: 54,870,060 (GRCm39)	V237D	probably damaging	Het
Gm57858	T	C	3: 36,073,016 (GRCm39)	K422R	possibly damaging	Het
Gpr22	C	A	12: 31,758,739 (GRCm39)	C461F	possibly damaging	Het
Grhl2	A	G	15: 37,288,532 (GRCm39)	T279A	probably damaging	Het
Gstm3	G	A	3: 107,874,929 (GRCm39)	R108C	probably damaging	Het
Htra4	G	A	8: 25,523,710 (GRCm39)	A285V	probably damaging	Het
Igkv14-100	C	T	6: 68,496,349 (GRCm39)	P81S	probably damaging	Het
Kif24	T	G	4: 41,395,274 (GRCm39)	Q533P	probably benign	Het
Klhl1	A	T	14: 96,438,809 (GRCm39)	N496K	possibly damaging	Het
Lama3	G	T	18: 12,714,840 (GRCm39)	R1667L	probably benign	Het
Lct	T	A	1: 128,214,327 (GRCm39)	H1815L	possibly damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Mrpl15	A	T	1: 4,854,176 (GRCm39)	H86Q	possibly damaging	Het
Myo10	C	T	15: 25,776,401 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,229,201 (GRCm39)	L893P	probably damaging	Het
Or4n4b	A	C	14: 50,536,295 (GRCm39)	I157S	probably damaging	Het
Or51a8	A	T	7: 102,550,086 (GRCm39)	N171Y	probably benign	Het
Ovol1	T	A	19: 5,603,643 (GRCm39)	D86V	possibly damaging	Het
Pacs2	T	A	12: 113,034,393 (GRCm39)	M851K	probably damaging	Het
Pde1a	A	T	2: 79,736,412 (GRCm39)	M39K	possibly damaging	Het
Pdpn	T	C	4: 143,000,550 (GRCm39)	H94R	possibly damaging	Het
Plcg2	T	A	8: 118,306,635 (GRCm39)		probably null	Het
Pzp	A	T	6: 128,466,049 (GRCm39)	Y1210*	probably null	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Ros1	A	T	10: 52,004,534 (GRCm39)	S1008T	possibly damaging	Het
Rps18-ps6	G	T	13: 97,896,871 (GRCm39)	Q76K	probably benign	Het
Sis	A	T	3: 72,819,167 (GRCm39)		probably benign	Het
Spag9	T	A	11: 93,992,986 (GRCm39)		probably null	Het
Srbd1	A	G	17: 86,433,616 (GRCm39)	L327P	probably damaging	Het
Steap3	A	T	1: 120,169,390 (GRCm39)	Y264*	probably null	Het
Swap70	A	G	7: 109,880,501 (GRCm39)	E572G	probably benign	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Trmt11	T	C	10: 30,470,150 (GRCm39)	D58G	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,901 (GRCm39)	S127P	probably damaging	Het
Usf1	T	A	1: 171,243,314 (GRCm39)	S30R	probably damaging	Het
Ush1c	A	G	7: 45,846,612 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,625,809 (GRCm39)	L124*	probably null	Het
Vmn2r75	T	C	7: 85,814,974 (GRCm39)	N173S	probably benign	Het
Zic2	T	C	14: 122,714,046 (GRCm39)	V320A	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
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
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

Posted On

2015-04-16