Mutagenetix > Incidental Mutation

Incidental Mutation 'R1714:Haus3'

190848

Institutional Source

Beutler Lab

Gene Symbol

Haus3

Ensembl Gene

ENSMUSG00000079555

Gene Name

HAUS augmin-like complex, subunit 3

Synonyms

D5H4S43, D4S43h, D5H4S43E

MMRRC Submission

039747-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34311240-34326768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34321041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 468 (H468Q)

Ref Sequence

ENSEMBL: ENSMUSP00000049973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042954] [ENSMUST00000060049] [ENSMUST00000202042] [ENSMUST00000202541] [ENSMUST00000202638] [ENSMUST00000202409]

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: H468Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555
AA Change: H468Q

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

noncoding transcript
Transcript: ENSMUST00000104266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201069

Predicted Effect

probably benign
Transcript: ENSMUST00000202042

SMART Domains

Protein: ENSMUSP00000144049
Gene: ENSMUSG00000079555

Domain	Start	End	E-Value	Type
Pfam:HAUS-augmin3	29	96	7.2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202290

Predicted Effect

probably benign
Transcript: ENSMUST00000202541

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,464,479 (GRCm39)	T892I	possibly damaging	Het
Abcb11	A	C	2: 69,136,925 (GRCm39)	F179V	probably damaging	Het
Adgrg6	G	T	10: 14,315,514 (GRCm39)	Q597K	possibly damaging	Het
Ankmy1	G	T	1: 92,812,916 (GRCm39)	Y464*	probably null	Het
Apba1	G	A	19: 23,922,316 (GRCm39)	E795K	possibly damaging	Het
Aqp12	T	A	1: 92,934,681 (GRCm39)	V186D	possibly damaging	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Cdc42se2	A	T	11: 54,631,112 (GRCm39)	S2R	possibly damaging	Het
Chd9	A	C	8: 91,760,853 (GRCm39)		probably benign	Het
Clk4	C	T	11: 51,171,245 (GRCm39)	H219Y	probably damaging	Het
Cngb1	A	G	8: 95,984,559 (GRCm39)	Y417H	probably damaging	Het
Cr2	A	T	1: 194,833,994 (GRCm39)	F932I	possibly damaging	Het
Cxxc1	C	A	18: 74,352,934 (GRCm39)	R415S	probably damaging	Het
Dclk2	G	A	3: 86,813,400 (GRCm39)	A182V	probably benign	Het
Ddx11	T	G	17: 66,455,754 (GRCm39)	W718G	probably damaging	Het
Dmd	A	C	X: 83,008,356 (GRCm39)	T2069P	probably benign	Het
Dnai1	T	C	4: 41,632,164 (GRCm39)	F533L	probably benign	Het
Dnajc5b	A	T	3: 19,633,265 (GRCm39)	R163*	probably null	Het
Dynll2	T	A	11: 87,874,838 (GRCm39)		probably null	Het
Ercc5	A	G	1: 44,206,499 (GRCm39)	T471A	probably benign	Het
Fan1	T	C	7: 64,016,435 (GRCm39)	D563G	probably benign	Het
Fbxo34	A	G	14: 47,766,658 (GRCm39)	Y6C	probably damaging	Het
Fcrl5	T	A	3: 87,353,713 (GRCm39)	S353T	probably damaging	Het
Gabrb3	A	T	7: 57,415,176 (GRCm39)	Y82F	probably damaging	Het
Gm20939	C	A	17: 95,183,234 (GRCm39)	P157T	probably damaging	Het
H2bc1	T	C	13: 24,117,935 (GRCm39)	T69A	probably benign	Het
Il20ra	T	C	10: 19,631,576 (GRCm39)	V259A	probably damaging	Het
Isg15	A	T	4: 156,284,414 (GRCm39)	V38E	probably damaging	Het
Kcnq3	A	G	15: 65,871,912 (GRCm39)	S586P	probably benign	Het
Kl	A	T	5: 150,876,798 (GRCm39)	Y206F	probably benign	Het
Klk1b24	C	A	7: 43,840,939 (GRCm39)	D122E	probably damaging	Het
Kmt2d	A	C	15: 98,760,831 (GRCm39)	S840A	unknown	Het
Krt34	A	G	11: 99,930,953 (GRCm39)	S150P	possibly damaging	Het
Lamc3	A	G	2: 31,830,769 (GRCm39)	K1502R	probably benign	Het
Letm1	G	T	5: 33,918,228 (GRCm39)	R306S	possibly damaging	Het
Lnx1	C	T	5: 74,768,398 (GRCm39)	G397S	probably null	Het
Lrrc8c	A	G	5: 105,755,157 (GRCm39)	T311A	possibly damaging	Het
Mpeg1	A	T	19: 12,440,198 (GRCm39)	D552V	probably damaging	Het
Myh11	C	T	16: 14,054,232 (GRCm39)		probably null	Het
Ndufa9	T	C	6: 126,799,154 (GRCm39)		probably null	Het
Or4e5	A	C	14: 52,727,871 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,314,008 (GRCm39)	I78F	probably damaging	Het
Or8s8	G	A	15: 98,354,614 (GRCm39)	C141Y	probably damaging	Het
Polr3d	A	C	14: 70,678,755 (GRCm39)	M117R	possibly damaging	Het
Ppp5c	T	C	7: 16,742,628 (GRCm39)	I237V	probably benign	Het
Prrc2c	G	A	1: 162,504,945 (GRCm39)	T2632M	probably damaging	Het
Ptprg	C	A	14: 12,213,697 (GRCm38)	Q1022K	probably damaging	Het
Pus10	T	A	11: 23,675,542 (GRCm39)	H471Q	probably damaging	Het
Ralgapa1	A	G	12: 55,689,174 (GRCm39)	V1928A	probably damaging	Het
Rbpms2	CACT	CACTACT	9: 65,558,947 (GRCm39)		probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfpl4	T	G	7: 5,113,357 (GRCm39)	T269P	probably benign	Het
Rgs10	A	G	7: 128,004,946 (GRCm39)	V72A	probably damaging	Het
Rsph1	T	C	17: 31,474,190 (GRCm39)	N289S	probably benign	Het
Sbk2	T	C	7: 4,966,121 (GRCm39)	D21G	probably benign	Het
Shbg	A	T	11: 69,507,983 (GRCm39)	D127E	possibly damaging	Het
Spag16	A	G	1: 69,882,164 (GRCm39)	E52G	probably damaging	Het
Ssh2	G	A	11: 77,344,850 (GRCm39)	G945D	possibly damaging	Het
Sstr3	A	T	15: 78,424,473 (GRCm39)	D91E	probably damaging	Het
Syne2	C	A	12: 76,101,713 (GRCm39)	A669E	probably benign	Het
Traf3	A	G	12: 111,208,907 (GRCm39)	I109V	probably benign	Het
Ube2j1	A	G	4: 33,049,886 (GRCm39)	T295A	probably damaging	Het
Usp46	A	G	5: 74,163,828 (GRCm39)	V276A	probably benign	Het
Vmn1r200	T	C	13: 22,579,640 (GRCm39)	S139P	possibly damaging	Het
Ydjc	G	A	16: 16,965,663 (GRCm39)	V143M	probably damaging	Het
Zfp169	T	C	13: 48,652,330 (GRCm39)	E29G	probably benign	Het
Zfp292	A	G	4: 34,808,935 (GRCm39)	S1370P	probably damaging	Het
Zfp763	C	T	17: 33,238,591 (GRCm39)	D185N	probably damaging	Het
Zfp827	A	T	8: 79,787,202 (GRCm39)	N123Y	probably damaging	Het
Zfp979	A	T	4: 147,698,442 (GRCm39)	I89N	probably damaging	Het
Zfr2	T	C	10: 81,080,583 (GRCm39)	L419P	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
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
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'- GATTCCCTCCACGATACAAAGCATCA -3'
(R):5'- GTGTCATTGTTGCTGCTGCTTTATCA -3'

Sequencing Primer
(F):5'- ACAAAGCATGTCCACATCATTATTC -3'
(R):5'- gcctctaatccatctatcttagcttc -3'

Posted On

2014-05-14