Mutagenetix > Incidental Mutation

Incidental Mutation 'R7920:Haus3'

648281

Institutional Source

Beutler Lab

Gene Symbol

Haus3

Ensembl Gene

ENSMUSG00000079555

Gene Name

HAUS augmin-like complex, subunit 3

Synonyms

D5H4S43, D4S43h, D5H4S43E

MMRRC Submission

045967-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34311240-34326768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34325046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 204 (I204M)

Ref Sequence

ENSEMBL: ENSMUSP00000049973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042954] [ENSMUST00000060049] [ENSMUST00000202042] [ENSMUST00000202409] [ENSMUST00000202541] [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: I204M

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555
AA Change: I204M

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: ENSMUST00000202042

SMART Domains

Protein: ENSMUSP00000144049
Gene: ENSMUSG00000079555

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

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,818,130 (GRCm39)	S9P	probably damaging	Het
AI661453	A	T	17: 47,779,331 (GRCm39)	Q1019L	unknown	Het
Aldh1a1	T	A	19: 20,595,301 (GRCm39)	W77R	probably damaging	Het
Cc2d2a	T	C	5: 43,896,651 (GRCm39)	I1516T	probably benign	Het
Ccdc149	T	A	5: 52,562,436 (GRCm39)	I197F	probably damaging	Het
Cfap119	A	G	7: 127,187,125 (GRCm39)	M46T	probably benign	Het
Cfb	A	G	17: 35,079,867 (GRCm39)	V176A	probably benign	Het
Chordc1	A	G	9: 18,213,397 (GRCm39)	K83E	probably benign	Het
Cic	G	A	7: 24,971,384 (GRCm39)	V372M	probably benign	Het
Coq2	T	A	5: 100,811,741 (GRCm39)		probably benign	Het
Cradd	A	G	10: 95,158,573 (GRCm39)	L58P	probably damaging	Het
Crim1	A	T	17: 78,610,493 (GRCm39)	D316V	probably damaging	Het
Cyb5rl	C	A	4: 106,928,205 (GRCm39)	L114I	possibly damaging	Het
Cyp2c69	T	G	19: 39,866,247 (GRCm39)		probably null	Het
Ddhd1	A	G	14: 45,894,927 (GRCm39)	F181S	probably damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dmrt1	T	C	19: 25,483,383 (GRCm39)	S56P	possibly damaging	Het
Dnah12	A	G	14: 26,578,499 (GRCm39)	E3086G	possibly damaging	Het
Dnah5	A	T	15: 28,453,368 (GRCm39)	M4380L	probably benign	Het
Dph7	A	T	2: 24,861,624 (GRCm39)	M346L	probably benign	Het
Eef1ece2	A	G	16: 20,456,442 (GRCm39)	E428G	possibly damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcna	T	C	2: 25,516,298 (GRCm39)	K112E	probably benign	Het
Fkbp5	A	T	17: 28,648,213 (GRCm39)	N125K	possibly damaging	Het
Foxo3	C	T	10: 42,073,765 (GRCm39)	V251I	possibly damaging	Het
Fryl	T	A	5: 73,259,150 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,781,365 (GRCm39)	E253G	possibly damaging	Het
Gprc6a	T	A	10: 51,491,026 (GRCm39)	T908S	probably benign	Het
Grin2c	A	T	11: 115,144,970 (GRCm39)	F560L	probably benign	Het
Hao1	T	A	2: 134,390,172 (GRCm39)	N56Y	probably damaging	Het
Htr3b	C	A	9: 48,848,456 (GRCm39)	C263F	probably damaging	Het
Ica1	A	T	6: 8,742,274 (GRCm39)	C120S	probably benign	Het
Inpp4a	T	A	1: 37,406,886 (GRCm39)	S210T	probably benign	Het
Inpp5d	T	G	1: 87,633,671 (GRCm39)	I699S	probably damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Lcn11	G	A	2: 25,669,343 (GRCm39)	V167M	possibly damaging	Het
Lingo3	C	A	10: 80,670,382 (GRCm39)	R516L	probably benign	Het
Lrmda	T	C	14: 22,646,546 (GRCm39)	V151A	probably damaging	Het
Ly6g5b	A	C	17: 35,333,578 (GRCm39)	I133R	probably damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mroh7	T	C	4: 106,564,773 (GRCm39)	T562A	probably benign	Het
Nlrc4	A	G	17: 74,734,114 (GRCm39)	M933T	probably benign	Het
Or13a25	A	T	7: 140,247,814 (GRCm39)	S198C	possibly damaging	Het
Pkhd1	A	T	1: 20,345,759 (GRCm39)	D2756E	probably damaging	Het
Plekhm2	T	C	4: 141,359,432 (GRCm39)	D445G	probably damaging	Het
Ppp1r12c	C	T	7: 4,486,354 (GRCm39)	G605D	probably benign	Het
Pygb	T	A	2: 150,628,922 (GRCm39)	N45K	possibly damaging	Het
Scn4b	A	G	9: 45,058,069 (GRCm39)	T54A	probably damaging	Het
Scrt1	T	A	15: 76,403,417 (GRCm39)	H191L	unknown	Het
Sdc3	A	G	4: 130,546,507 (GRCm39)	M289V	probably benign	Het
Shb	C	T	4: 45,489,054 (GRCm39)		probably null	Het
Slc1a5	A	G	7: 16,527,795 (GRCm39)	T364A	probably damaging	Het
Slc25a27	A	G	17: 43,960,564 (GRCm39)	V218A	probably benign	Het
Slc39a4	C	T	15: 76,498,285 (GRCm39)	G384D	probably damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Styxl2	T	A	1: 165,927,465 (GRCm39)	N716Y	possibly damaging	Het
Tmem67	A	T	4: 12,089,284 (GRCm39)		probably null	Het
Tonsl	C	T	15: 76,518,787 (GRCm39)	R544H	probably damaging	Het
Trex1	A	G	9: 108,887,157 (GRCm39)	V278A	unknown	Het
Ttn	A	T	2: 76,625,501 (GRCm39)	D15107E	probably damaging	Het
Tubgcp5	A	G	7: 55,466,310 (GRCm39)	T621A	probably benign	Het
Zfhx4	T	C	3: 5,465,515 (GRCm39)	V1916A	possibly damaging	Het
Zfp260	A	T	7: 29,805,017 (GRCm39)	K306*	probably null	Het
Zkscan7	A	T	9: 122,724,974 (GRCm39)	T648S	probably benign	Het
Zscan4c	T	A	7: 10,743,699 (GRCm39)	F433I	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
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'- AGTCTAGCCATCTCCAGTCG -3'
(R):5'- GCTACAGGTTTCTGGCATTAAATG -3'

Sequencing Primer
(F):5'- AGTCGTCGCTCCCTAAGGATTTC -3'
(R):5'- CATTAAATGCTAAACAAGAGGAGGCC -3'

Posted On

2020-09-15