Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Haus6'

42456

Institutional Source

Beutler Lab

Gene Symbol

Haus6

Ensembl Gene

ENSMUSG00000038047

Gene Name

HAUS augmin-like complex, subunit 6

Synonyms

D4Ertd27e, 6230416J20Rik

MMRRC Submission

038689-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R0491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86497092-86530292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86521083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 185 (V185G)

Ref Sequence

ENSEMBL: ENSMUSP00000070504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070607] [ENSMUST00000125481]

AlphaFold

Q6NV99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070607
AA Change: V185G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: V185G

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: ENSMUST00000123432

Predicted Effect

probably benign
Transcript: ENSMUST00000125481

SMART Domains

Protein: ENSMUSP00000118609
Gene: ENSMUSG00000038047

Domain	Start	End	E-Value	Type
Pfam:HAUS6_N	43	69	2.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128381

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,248,235 (GRCm39)	F2661L	probably benign	Het
Acadsb	A	G	7: 131,031,836 (GRCm39)	D224G	probably benign	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,667,457 (GRCm39)	D465G	probably damaging	Het
Akap9	A	T	5: 4,022,851 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,679,582 (GRCm39)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,555,075 (GRCm39)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,250,212 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,614,913 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,016,746 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,287,515 (GRCm39)	F740L	probably benign	Het
Clec12a	T	A	6: 129,341,016 (GRCm39)	D265E	probably benign	Het
Clic3	T	A	2: 25,347,797 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,909,859 (GRCm39)	T749P	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Cplane1	T	A	15: 8,211,727 (GRCm39)	S356T	probably damaging	Het
Crxos	T	A	7: 15,632,460 (GRCm39)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,231,468 (GRCm39)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,410,486 (GRCm39)	N262K	possibly damaging	Het
Dennd2b	T	A	7: 109,156,411 (GRCm39)	Q113L	probably benign	Het
Dpy19l2	T	C	9: 24,607,324 (GRCm39)	R46G	probably benign	Het
Dpysl2	A	T	14: 67,045,411 (GRCm39)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Eppin	T	A	2: 164,431,332 (GRCm39)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,152,835 (GRCm39)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,412,705 (GRCm39)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,409,525 (GRCm39)	H586R	unknown	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Herc2	T	A	7: 55,772,114 (GRCm39)	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,057,136 (GRCm39)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,326,896 (GRCm39)		probably benign	Het
Kbtbd2	G	A	6: 56,757,374 (GRCm39)	R121*	probably null	Het
Lgr4	C	T	2: 109,837,626 (GRCm39)		probably benign	Het
Lrrc55	T	C	2: 85,022,264 (GRCm39)	E309G	probably damaging	Het
Mertk	T	C	2: 128,635,027 (GRCm39)		probably null	Het
Micu3	A	G	8: 40,819,294 (GRCm39)		probably benign	Het
Mmp11	G	A	10: 75,762,592 (GRCm39)	A287V	probably benign	Het
Mpzl2	A	G	9: 44,954,039 (GRCm39)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,415,752 (GRCm39)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,794,857 (GRCm39)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Ncapd3	T	G	9: 26,969,179 (GRCm39)	V611G	probably damaging	Het
Ntpcr	C	T	8: 126,464,093 (GRCm39)	R73*	probably null	Het
Or4c120	A	T	2: 89,000,704 (GRCm39)	V284E	probably benign	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,664,709 (GRCm39)	F88S	probably damaging	Het
Pkn3	A	T	2: 29,979,889 (GRCm39)	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,285,602 (GRCm39)	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,486,065 (GRCm39)	T408A	probably benign	Het
Prss41	T	C	17: 24,061,477 (GRCm39)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,817,378 (GRCm39)		probably benign	Het
Ptprq	A	T	10: 107,444,036 (GRCm39)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,828,086 (GRCm39)	D470G	probably damaging	Het
Scarb1	A	G	5: 125,375,795 (GRCm39)		probably benign	Het
Slc25a54	G	A	3: 109,010,112 (GRCm39)	A204T	probably damaging	Het
Spink10	T	C	18: 62,793,036 (GRCm39)	C67R	probably damaging	Het
Tmtc1	A	T	6: 148,314,138 (GRCm39)		probably null	Het
Tprkb	A	G	6: 85,901,446 (GRCm39)	D28G	probably benign	Het
Ttll13	A	G	7: 79,910,098 (GRCm39)	H747R	probably benign	Het
Usp24	A	G	4: 106,259,302 (GRCm39)	S1608G	probably benign	Het
Utp20	A	T	10: 88,596,774 (GRCm39)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,579,361 (GRCm39)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,046,254 (GRCm39)	M103K	probably damaging	Het
Zfp595	C	T	13: 67,465,369 (GRCm39)	G298E	probably damaging	Het
Zfp738	T	G	13: 67,818,140 (GRCm39)	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,442,163 (GRCm39)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,546,071 (GRCm39)	D80Y	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
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

Predicted Primers

PCR Primer
(F):5'- tccaaaattctcactacaTGCAGTAGTCC -3'
(R):5'- CATCACTAACAAAGTGAAGAGTTGCTTGAAAA -3'

Sequencing Primer
(F):5'- tgactaagcactgaaggcac -3'
(R):5'- GAGTTGCTTGAAAAAAATGGCATAC -3'

Posted On

2013-05-23