Mutagenetix > Incidental Mutation

Incidental Mutation 'R9267:Haus3'

702603

Institutional Source

Beutler Lab

Gene Symbol

Haus3

Ensembl Gene

ENSMUSG00000079555

Gene Name

HAUS augmin-like complex, subunit 3

Synonyms

D5H4S43, D4S43h, D5H4S43E

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9267 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34311240-34326768 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 34311452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042954] [ENSMUST00000060049] [ENSMUST00000202409] [ENSMUST00000202638]

AlphaFold

Q8QZX2

Predicted Effect

probably benign
Transcript: ENSMUST00000042954

SMART Domains

Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102

Domain	Start	End	E-Value	Type
low complexity region	110	121	N/A	INTRINSIC
POLAc	605	814	7.88e-67	SMART
low complexity region	829	843	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000060049

SMART Domains

Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555

Domain	Start	End	E-Value	Type
Pfam:HAUS-augmin3	29	282	4.8e-85	PFAM
coiled coil region	294	336	N/A	INTRINSIC
coiled coil region	459	495	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202409

SMART Domains

Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102

Domain	Start	End	E-Value	Type
low complexity region	110	121	N/A	INTRINSIC
coiled coil region	448	471	N/A	INTRINSIC
POLAc	587	796	2.6e-69	SMART
low complexity region	811	825	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202638

SMART Domains

Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102

Domain	Start	End	E-Value	Type
low complexity region	110	121	N/A	INTRINSIC
coiled coil region	448	471	N/A	INTRINSIC
POLAc	605	770	3e-37	SMART
low complexity region	785	799	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit pre- or peri-implantation lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,869,657 (GRCm39)		probably benign	Het
Abcd2	T	A	15: 91,063,423 (GRCm39)	T422S	possibly damaging	Het
Acsl3	T	G	1: 78,674,623 (GRCm39)	I390S	probably damaging	Het
Adad1	T	A	3: 37,139,074 (GRCm39)		probably benign	Het
Adam3	A	G	8: 25,171,605 (GRCm39)	V742A	probably benign	Het
Adgra3	A	T	5: 50,155,618 (GRCm39)	I450K	possibly damaging	Het
Adgrb2	T	C	4: 129,885,901 (GRCm39)	S14P	possibly damaging	Het
Arfgef3	T	A	10: 18,475,028 (GRCm39)	I1553F	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc27	A	G	4: 154,117,441 (GRCm39)	L502P	probably damaging	Het
Ccdc50	T	A	16: 27,208,700 (GRCm39)	L5Q		Het
Cdh16	C	T	8: 105,341,834 (GRCm39)	G777D	probably damaging	Het
Cntn2	C	A	1: 132,449,021 (GRCm39)	V663L	probably benign	Het
Cpne4	T	A	9: 104,884,833 (GRCm39)	V343E	probably damaging	Het
Dctpp1	A	T	7: 126,856,275 (GRCm39)	I149N	probably benign	Het
Dlg5	T	C	14: 24,204,745 (GRCm39)	N1266S	probably damaging	Het
Dst	A	G	1: 34,232,145 (GRCm39)	D3246G	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Erbin	T	C	13: 103,987,292 (GRCm39)	T423A	probably damaging	Het
Erich5	C	T	15: 34,471,563 (GRCm39)	P264L	possibly damaging	Het
Fam90a1a	A	G	8: 22,453,091 (GRCm39)	M149V	probably benign	Het
Fbxl18	C	T	5: 142,880,870 (GRCm39)	G62R	possibly damaging	Het
Fech	A	G	18: 64,591,267 (GRCm39)	S386P	possibly damaging	Het
Fhl3	T	A	4: 124,601,498 (GRCm39)		probably null	Het
Fkbp5	A	G	17: 28,629,558 (GRCm39)	S256P	probably benign	Het
Frem2	A	G	3: 53,564,504 (GRCm39)	M1T	probably null	Het
Galnt5	T	C	2: 57,925,220 (GRCm39)	F834L	possibly damaging	Het
Gm3618	G	T	14: 17,502,588 (GRCm39)	T99N	unknown	Het
Gm9195	T	A	14: 72,700,546 (GRCm39)	Q1127L	possibly damaging	Het
Gpsm1	A	G	2: 26,236,835 (GRCm39)	D643G	probably damaging	Het
Grm4	A	G	17: 27,654,183 (GRCm39)	V589A	possibly damaging	Het
Gskip	T	A	12: 105,665,052 (GRCm39)	F30L	probably benign	Het
Heatr1	T	C	13: 12,421,489 (GRCm39)	F463S	probably damaging	Het
Hmcn1	G	A	1: 150,473,740 (GRCm39)	S4851F	probably benign	Het
Il16	A	C	7: 83,371,757 (GRCm39)	F16L	probably benign	Het
Itga1	C	A	13: 115,185,924 (GRCm39)	C26F	possibly damaging	Het
Itga6	A	G	2: 71,668,756 (GRCm39)	E565G	probably benign	Het
Itgb4	A	G	11: 115,870,465 (GRCm39)	H98R	probably benign	Het
Kidins220	T	A	12: 25,038,558 (GRCm39)	S37T	probably benign	Het
Lrrc37	A	T	11: 103,495,406 (GRCm39)	D2804E	unknown	Het
Lrrk2	C	T	15: 91,584,629 (GRCm39)	L349F	probably damaging	Het
Malrd1	T	G	2: 16,260,077 (GRCm39)	I2099S	unknown	Het
Mapk8ip1	A	G	2: 92,216,714 (GRCm39)	I492T	possibly damaging	Het
Mest	T	A	6: 30,742,141 (GRCm39)	D68E		Het
Mthfd1l	A	G	10: 3,934,154 (GRCm39)	D162G	probably benign	Het
Nalcn	A	T	14: 123,518,567 (GRCm39)	D1657E	probably benign	Het
Nbeal2	C	A	9: 110,462,115 (GRCm39)	V1475F	probably damaging	Het
Nf1	C	A	11: 79,331,716 (GRCm39)	Q684K	possibly damaging	Het
Opn5	T	A	17: 42,903,793 (GRCm39)	T181S	probably damaging	Het
Or10ag54	T	C	2: 87,099,326 (GRCm39)	L67P	possibly damaging	Het
Or1j19	A	T	2: 36,676,530 (GRCm39)		probably benign	Het
Or7a38	A	G	10: 78,752,803 (GRCm39)	N43S	probably damaging	Het
Or9s15	A	T	1: 92,524,994 (GRCm39)	H251L	probably damaging	Het
Or9s15	A	T	1: 92,524,996 (GRCm39)	M252L	probably benign	Het
Orc4	T	A	2: 48,827,534 (GRCm39)	R20*	probably null	Het
Pik3ca	T	C	3: 32,492,211 (GRCm39)	Y270H	probably damaging	Het
Pkn2	T	C	3: 142,517,676 (GRCm39)	E474G	probably null	Het
Pnma8b	A	T	7: 16,679,159 (GRCm39)	N48Y	unknown	Het
Pnpla2	A	C	7: 141,036,503 (GRCm39)		probably benign	Het
Polr1a	G	A	6: 71,942,542 (GRCm39)	M1127I	probably benign	Het
Ptpre	A	C	7: 135,274,549 (GRCm39)	D507A	probably damaging	Het
Rab3gap2	T	C	1: 184,983,331 (GRCm39)	V490A	probably damaging	Het
Rab44	A	T	17: 29,354,338 (GRCm39)		probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Ripor1	A	G	8: 106,348,063 (GRCm39)	D1146G	unknown	Het
Sh3yl1	A	T	12: 30,972,335 (GRCm39)	I35F	possibly damaging	Het
Slc22a5	A	G	11: 53,764,619 (GRCm39)	F276L	probably benign	Het
Slc8a3	T	A	12: 81,361,208 (GRCm39)	D537V	possibly damaging	Het
Smc4	T	A	3: 68,941,786 (GRCm39)	I1263N	probably damaging	Het
Snai2	A	T	16: 14,525,120 (GRCm39)	T209S	possibly damaging	Het
Stam2	A	T	2: 52,604,903 (GRCm39)	Y211N	probably damaging	Het
Stxbp1	A	G	2: 32,708,517 (GRCm39)	S83P	probably damaging	Het
Susd4	T	C	1: 182,716,389 (GRCm39)	F325L	probably benign	Het
Tmem245	A	G	4: 56,947,236 (GRCm39)	V59A	probably benign	Het
Tnk2	A	G	16: 32,494,489 (GRCm39)	D469G	probably damaging	Het
Tpx2	A	G	2: 152,732,517 (GRCm39)	D597G	probably damaging	Het
Ube2w	A	T	1: 16,612,011 (GRCm39)	S170R		Het
Vmn2r102	A	T	17: 19,896,928 (GRCm39)	I92F	probably damaging	Het
Vmn2r11	T	A	5: 109,199,929 (GRCm39)	E508V	possibly damaging	Het
Vmn2r30	T	A	7: 7,340,432 (GRCm39)	I21F	possibly damaging	Het
Yipf2	G	A	9: 21,501,489 (GRCm39)	T187M	possibly damaging	Het
Zbtb8a	T	A	4: 129,248,267 (GRCm39)	K335*	probably null	Het
Zfp609	T	C	9: 65,608,328 (GRCm39)	D1184G	possibly damaging	Het

Other mutations in Haus3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Haus3	APN	5	34,325,272 (GRCm39)	missense	probably benign	0.00
IGL00990:Haus3	APN	5	34,323,690 (GRCm39)	missense	probably benign	0.00
IGL01311:Haus3	APN	5	34,324,988 (GRCm39)	nonsense	probably null
IGL01906:Haus3	APN	5	34,325,667 (GRCm39)	intron	probably benign
IGL01964:Haus3	APN	5	34,323,405 (GRCm39)	missense	probably benign	0.19
IGL02383:Haus3	APN	5	34,323,580 (GRCm39)	nonsense	probably null
IGL02584:Haus3	APN	5	34,323,602 (GRCm39)	nonsense	probably null
IGL02800:Haus3	APN	5	34,323,668 (GRCm39)	missense	possibly damaging	0.94
IGL03010:Haus3	APN	5	34,323,631 (GRCm39)	missense	probably benign	0.04
IGL03371:Haus3	APN	5	34,323,687 (GRCm39)	nonsense	probably null
R0102:Haus3	UTSW	5	34,323,258 (GRCm39)	critical splice donor site	probably null
R0102:Haus3	UTSW	5	34,323,258 (GRCm39)	critical splice donor site	probably null
R0238:Haus3	UTSW	5	34,323,600 (GRCm39)	missense	possibly damaging	0.54
R0238:Haus3	UTSW	5	34,323,600 (GRCm39)	missense	possibly damaging	0.54
R0701:Haus3	UTSW	5	34,323,359 (GRCm39)	missense	probably benign	0.05
R1527:Haus3	UTSW	5	34,311,397 (GRCm39)	missense	probably benign	0.00
R1714:Haus3	UTSW	5	34,321,041 (GRCm39)	missense	probably benign	0.03
R1800:Haus3	UTSW	5	34,320,916 (GRCm39)	missense	probably damaging	1.00
R4874:Haus3	UTSW	5	34,324,972 (GRCm39)	missense	probably benign	0.07
R4895:Haus3	UTSW	5	34,325,414 (GRCm39)	missense	probably benign	0.33
R5268:Haus3	UTSW	5	34,323,449 (GRCm39)	missense	probably damaging	0.98
R5613:Haus3	UTSW	5	34,325,173 (GRCm39)	missense	probably damaging	0.98
R6299:Haus3	UTSW	5	34,325,140 (GRCm39)	missense	probably benign	0.40
R6701:Haus3	UTSW	5	34,325,078 (GRCm39)	missense	probably damaging	0.99
R7414:Haus3	UTSW	5	34,323,477 (GRCm39)	missense	probably benign
R7920:Haus3	UTSW	5	34,325,046 (GRCm39)	missense	probably benign	0.04
R8273:Haus3	UTSW	5	34,311,435 (GRCm39)	missense	probably benign	0.00
R9156:Haus3	UTSW	5	34,324,994 (GRCm39)	missense	probably damaging	0.99
R9180:Haus3	UTSW	5	34,324,835 (GRCm39)	nonsense	probably null
R9372:Haus3	UTSW	5	34,321,002 (GRCm39)	missense	probably benign	0.01
R9511:Haus3	UTSW	5	34,325,571 (GRCm39)	missense	probably damaging	1.00
R9563:Haus3	UTSW	5	34,325,300 (GRCm39)	missense	probably benign	0.11
X0019:Haus3	UTSW	5	34,320,900 (GRCm39)	nonsense	probably null
X0063:Haus3	UTSW	5	34,323,566 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CAGCAGGCATAGTAAATATTCCGTTTT -3'
(R):5'- GGAAACAACTTCTTTGCTTTCTTG -3'

Sequencing Primer
(F):5'- ATTCCGTTTTTAGAACTCTTCAGTC -3'
(R):5'- AGACAGGATCTCACTGTGTAGTCC -3'

Posted On

2022-03-25