Mutagenetix > Incidental Mutation

Incidental Mutation 'R9386:Haus6'

710317

Institutional Source

Beutler Lab

Gene Symbol

Haus6

Ensembl Gene

ENSMUSG00000038047

Gene Name

HAUS augmin-like complex, subunit 6

Synonyms

D4Ertd27e, 6230416J20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R9386 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86497092-86530292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86502101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 590 (I590T)

Ref Sequence

ENSEMBL: ENSMUSP00000070504 (fasta)

Gene Model

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

AlphaFold

Q6NV99

Predicted Effect

probably benign
Transcript: ENSMUST00000070607
AA Change: I590T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: I590T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	A	10: 10,274,708 (GRCm39)	M750L	probably benign	Het
Ahnak2	T	A	12: 112,745,428 (GRCm39)	H673L		Het
Alg1	T	C	16: 5,059,201 (GRCm39)	L338P	probably damaging	Het
Anapc1	A	C	2: 128,459,642 (GRCm39)	S1806A	probably benign	Het
Anks1	C	T	17: 28,272,880 (GRCm39)	T925I	probably benign	Het
Aoc1l1	A	G	6: 48,952,324 (GRCm39)	N83S	probably benign	Het
Apob	G	A	12: 8,056,629 (GRCm39)	A1704T	probably damaging	Het
Arnt	G	A	3: 95,395,687 (GRCm39)	V422M	possibly damaging	Het
Cblb	C	A	16: 51,986,701 (GRCm39)	S648*	probably null	Het
Cdk18	A	G	1: 132,044,183 (GRCm39)		probably null	Het
Celsr1	T	C	15: 85,863,231 (GRCm39)	D1267G	probably damaging	Het
Chtf18	C	T	17: 25,942,732 (GRCm39)	R399H	probably damaging	Het
Cntnap1	T	A	11: 101,076,052 (GRCm39)	Y979N	probably damaging	Het
Col22a1	T	C	15: 71,853,794 (GRCm39)	D256G	probably damaging	Het
Dbn1	C	T	13: 55,629,760 (GRCm39)	R174Q	probably damaging	Het
Dnah10	G	A	5: 124,871,507 (GRCm39)		probably null	Het
Dnah9	T	A	11: 65,838,368 (GRCm39)	D3143V	probably damaging	Het
Dnajc6	G	A	4: 101,494,098 (GRCm39)		probably null	Het
Dsg1b	A	G	18: 20,525,071 (GRCm39)	N169S	possibly damaging	Het
Eloa	A	G	4: 135,737,847 (GRCm39)	V371A	probably benign	Het
Epb41l4b	A	T	4: 57,076,553 (GRCm39)	V327E	probably damaging	Het
Fbxo15	A	T	18: 84,977,372 (GRCm39)	T140S	probably benign	Het
Fryl	A	T	5: 73,349,152 (GRCm39)	F3L	unknown	Het
Galnt16	T	C	12: 80,644,880 (GRCm39)	V501A	probably damaging	Het
Hcfc2	T	A	10: 82,574,937 (GRCm39)	F199I	probably damaging	Het
Hoxd13	A	G	2: 74,499,327 (GRCm39)	Y225C	probably damaging	Het
Hydin	T	C	8: 111,314,362 (GRCm39)	L4282P	probably benign	Het
Ing2	T	C	8: 48,127,561 (GRCm39)	E52G	probably benign	Het
Itsn2	T	C	12: 4,679,730 (GRCm39)	S180P	unknown	Het
Kansl1l	T	C	1: 66,765,129 (GRCm39)	E727G	probably damaging	Het
Klhl26	A	G	8: 70,904,156 (GRCm39)	F585L	probably benign	Het
Lce1a1	T	G	3: 92,554,190 (GRCm39)	S95R	unknown	Het
Lrp1b	A	T	2: 41,013,640 (GRCm39)	V1955E		Het
Megf6	G	A	4: 154,340,534 (GRCm39)	G583E	probably damaging	Het
Mex3a	A	G	3: 88,443,505 (GRCm39)	I194V	possibly damaging	Het
Mmp10	A	T	9: 7,503,388 (GRCm39)	Y116F	probably damaging	Het
Muc2	A	T	7: 141,279,389 (GRCm39)	D155V	probably damaging	Het
Ncam2	T	C	16: 81,252,252 (GRCm39)	C232R	probably damaging	Het
Nopchap1	T	C	10: 83,196,129 (GRCm39)	F3L	probably benign	Het
Or13n4	T	C	7: 106,423,707 (GRCm39)	I9V	probably benign	Het
Pdgfd	C	A	9: 6,293,903 (GRCm39)	A159E	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Plekha8	C	A	6: 54,605,846 (GRCm39)	T307K	probably damaging	Het
Pnpla6	T	C	8: 3,571,417 (GRCm39)		probably null	Het
Prkdc	T	G	16: 15,496,136 (GRCm39)	S776A	probably damaging	Het
Prrc2b	T	C	2: 32,104,125 (GRCm39)	I1201T	probably benign	Het
Pxmp4	C	A	2: 154,430,004 (GRCm39)	M128I	probably benign	Het
Siglech	T	C	7: 55,422,312 (GRCm39)	S306P	probably benign	Het
Strc	C	T	2: 121,198,211 (GRCm39)	E1449K	probably damaging	Het
Tchh	A	T	3: 93,354,346 (GRCm39)	Q1262L	unknown	Het
Tln2	A	T	9: 67,273,249 (GRCm39)	D410E	possibly damaging	Het
Tmem175	A	T	5: 108,787,339 (GRCm39)	Q62L	probably benign	Het
Tpm3-rs7	A	C	14: 113,552,597 (GRCm39)	M164L	probably benign	Het
Trav8d-2	G	A	14: 53,280,220 (GRCm39)	R70H	probably damaging	Het
Tsc1	T	C	2: 28,561,858 (GRCm39)	S332P	probably benign	Het
Ttc41	T	G	10: 86,548,890 (GRCm39)	I28R	probably damaging	Het
Unc93a2	C	T	17: 7,637,164 (GRCm39)	W341*	probably null	Het
Vsig10	A	C	5: 117,463,140 (GRCm39)	Y122S	probably damaging	Het
Wnk2	A	G	13: 49,220,822 (GRCm39)	W1260R	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
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
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'- TGAGACAGCTTTCTCTTCAGG -3'
(R):5'- ATCTCAGGAACAGCTGCTGC -3'

Sequencing Primer
(F):5'- GCTTTCTCTTCAGGAAAATAAGACCG -3'
(R):5'- GAACTGAGGCAGTACCTTTAT -3'

Posted On

2022-04-18