Mutagenetix > Incidental Mutation

Incidental Mutation 'R8273:Haus3'

637836

Institutional Source

Beutler Lab

Gene Symbol

Haus3

Ensembl Gene

ENSMUSG00000079555

Gene Name

HAUS augmin-like complex, subunit 3

Synonyms

D5H4S43, D4S43h, D5H4S43E

MMRRC Submission

067696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34311240-34326768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34311435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 532 (F532L)

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 benign
Transcript: ENSMUST00000060049
AA Change: F532L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555
AA Change: F532L

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: 98.8%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,211 (GRCm39)	V467I	probably benign	Het
Ank1	G	A	8: 23,575,668 (GRCm39)	G167E	probably damaging	Het
Ano2	G	A	6: 125,959,683 (GRCm39)	V648M	probably damaging	Het
Ap3b2	A	G	7: 81,112,990 (GRCm39)	C954R	unknown	Het
Atp13a4	T	G	16: 29,290,720 (GRCm39)	Y243S		Het
Bend3	T	G	10: 43,386,899 (GRCm39)	C431G	probably damaging	Het
Ccdc57	G	A	11: 120,812,599 (GRCm39)	R52C	probably damaging	Het
Ccl22	T	C	8: 95,473,619 (GRCm39)	W55R	probably damaging	Het
Ccnk	A	G	12: 108,152,758 (GRCm39)	Y25C	probably damaging	Het
Cntnap5a	C	T	1: 116,499,271 (GRCm39)	P1174S	probably damaging	Het
Copa	T	C	1: 171,946,546 (GRCm39)		probably null	Het
Copg2	C	T	6: 30,793,061 (GRCm39)	V425M	probably benign	Het
Dnah6	T	A	6: 73,172,664 (GRCm39)	T265S	probably benign	Het
Dnah6	T	C	6: 73,053,582 (GRCm39)	E2936G	probably benign	Het
Dync2i2	A	T	2: 29,921,903 (GRCm39)	V486D	probably damaging	Het
Erc2	A	G	14: 27,499,096 (GRCm39)	D324G	probably benign	Het
F11	T	A	8: 45,701,644 (GRCm39)	H363L	possibly damaging	Het
F7	T	C	8: 13,083,981 (GRCm39)	V222A	probably benign	Het
Fars2	A	G	13: 36,594,093 (GRCm39)	D366G	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flot2	A	G	11: 77,950,021 (GRCm39)	I417V	probably benign	Het
Fmnl1	T	C	11: 103,077,525 (GRCm39)	F295S	probably damaging	Het
Gpr89	G	A	3: 96,812,505 (GRCm39)	T12I	probably benign	Het
Gprc6a	T	C	10: 51,507,370 (GRCm39)	D53G	probably benign	Het
Gtf2e1	T	A	16: 37,343,213 (GRCm39)	I184F	probably damaging	Het
Gtf2h1	G	A	7: 46,454,474 (GRCm39)	R152H	probably benign	Het
Inpp4a	A	G	1: 37,407,520 (GRCm39)		probably benign	Het
Klc4	A	T	17: 46,953,080 (GRCm39)	L150Q	possibly damaging	Het
Lzts3	C	T	2: 130,476,801 (GRCm39)	R549Q	possibly damaging	Het
Mbd5	T	A	2: 49,168,891 (GRCm39)	L1354Q	probably damaging	Het
Mtus2	A	G	5: 148,043,815 (GRCm39)	D801G	probably damaging	Het
Muc6	T	A	7: 141,226,795 (GRCm39)	T1411S	unknown	Het
Nalcn	C	A	14: 123,554,436 (GRCm39)	G954C	probably damaging	Het
Nlrp9b	G	A	7: 19,757,986 (GRCm39)	E408K	possibly damaging	Het
Oaz3	A	G	3: 94,342,434 (GRCm39)	L119P	probably damaging	Het
Or2w6	A	G	13: 21,843,377 (GRCm39)	F39L	probably damaging	Het
Pcdhgb5	T	C	18: 37,865,240 (GRCm39)	V345A	probably benign	Het
Pdzph1	A	T	17: 59,280,009 (GRCm39)	Y758N	probably benign	Het
Pea15a	T	A	1: 172,026,812 (GRCm39)	H65L	probably damaging	Het
Pigm	T	A	1: 172,205,524 (GRCm39)	I420N	probably benign	Het
Pign	A	G	1: 105,516,803 (GRCm39)	F580L	probably benign	Het
Pkhd1	T	C	1: 20,607,644 (GRCm39)		probably benign	Het
Plxnc1	T	C	10: 94,649,105 (GRCm39)	N1225D	probably benign	Het
Rbbp6	G	A	7: 122,589,547 (GRCm39)	D412N	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rtl1	A	G	12: 109,559,149 (GRCm39)	Y897H	possibly damaging	Het
Scube2	A	T	7: 109,408,383 (GRCm39)	F688Y	probably benign	Het
Sgo2b	C	A	8: 64,377,735 (GRCm39)	R1166L	unknown	Het
Slc12a2	G	T	18: 58,047,338 (GRCm39)		probably benign	Het
Smpdl3b	T	A	4: 132,465,712 (GRCm39)	H236L	probably damaging	Het
Spata9	C	A	13: 76,125,666 (GRCm39)		probably benign	Het
St6galnac4	A	G	2: 32,477,667 (GRCm39)		probably benign	Het
Stc2	T	A	11: 31,319,777 (GRCm39)	N29I	possibly damaging	Het
Sun5	A	T	2: 153,707,243 (GRCm39)	M145K	possibly damaging	Het
Tas2r106	T	C	6: 131,655,018 (GRCm39)	I278V	probably damaging	Het
Trrap	A	G	5: 144,727,975 (GRCm39)	I565M	probably damaging	Het
Ttl	A	G	2: 128,910,853 (GRCm39)	K79R	probably benign	Het
Ttn	A	T	2: 76,737,721 (GRCm39)	Y4319N	unknown	Het
Usp28	T	C	9: 48,938,182 (GRCm39)	L584P	probably damaging	Het
Wdr27	A	G	17: 15,049,838 (GRCm39)	S777P	probably benign	Het
Wee1	A	G	7: 109,723,691 (GRCm39)	D202G	probably benign	Het
Wnt5a	T	C	14: 28,244,562 (GRCm39)	Y270H	probably damaging	Het
Zfp318	G	A	17: 46,723,301 (GRCm39)	C1768Y	probably 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
R9156:Haus3	UTSW	5	34,324,994 (GRCm39)	missense	probably damaging	0.99
R9180:Haus3	UTSW	5	34,324,835 (GRCm39)	nonsense	probably null
R9267:Haus3	UTSW	5	34,311,452 (GRCm39)	critical splice acceptor site	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'- TAGAACTCTTCAGTCTTTTCTACAACA -3'
(R):5'- GGAAACAACTTCTTTGCTTTCTTG -3'

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

Posted On

2020-07-28