Mutagenetix > Incidental Mutation

Incidental Mutation 'R1800:Haus3'

203021

Institutional Source

Beutler Lab

Gene Symbol

Haus3

Ensembl Gene

ENSMUSG00000079555

Gene Name

HAUS augmin-like complex, subunit 3

Synonyms

D5H4S43, D4S43h, D5H4S43E

MMRRC Submission

039830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1800 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34311240-34326768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34320916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 510 (L510R)

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 damaging
Transcript: ENSMUST00000060049
AA Change: L510R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555
AA Change: L510R

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: 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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.2%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,479 (GRCm39)	K556R	probably damaging	Het
4933406P04Rik	A	T	10: 20,186,893 (GRCm39)		probably benign	Het
Acmsd	C	A	1: 127,687,493 (GRCm39)	Y258*	probably null	Het
Adgrf5	A	T	17: 43,761,973 (GRCm39)	I1223F	probably damaging	Het
Afp	C	T	5: 90,638,655 (GRCm39)	P6S	probably benign	Het
Agap2	C	A	10: 126,927,540 (GRCm39)	H1120Q	probably damaging	Het
Angpt1	A	G	15: 42,375,800 (GRCm39)	V152A	probably damaging	Het
Ankrd1	A	T	19: 36,096,759 (GRCm39)	F23I	probably damaging	Het
Armc12	T	C	17: 28,757,869 (GRCm39)	S334P	possibly damaging	Het
Arnt2	C	A	7: 83,924,583 (GRCm39)	D415Y	probably damaging	Het
Cacna1s	G	T	1: 136,004,592 (GRCm39)	V131L	probably benign	Het
Cacna2d2	T	C	9: 107,404,632 (GRCm39)	V1141A	possibly damaging	Het
Cfap61	T	C	2: 145,884,542 (GRCm39)	L580P	probably damaging	Het
Chga	A	T	12: 102,522,164 (GRCm39)	S23C	probably damaging	Het
Chrna5	A	G	9: 54,912,159 (GRCm39)	T320A	probably damaging	Het
Col17a1	G	T	19: 47,639,301 (GRCm39)	N1081K	possibly damaging	Het
Cox7b2	A	T	5: 71,600,406 (GRCm39)	C51S	possibly damaging	Het
Cstdc3	T	A	16: 36,132,895 (GRCm39)	D57E	probably damaging	Het
Cwc22	A	T	2: 77,759,797 (GRCm39)	D83E	possibly damaging	Het
D130043K22Rik	A	C	13: 25,067,877 (GRCm39)	D871A	probably damaging	Het
Dab2	A	T	15: 6,464,948 (GRCm39)	M361L	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dnmbp	A	G	19: 43,890,159 (GRCm39)	I536T	probably benign	Het
Ehmt1	A	T	2: 24,774,302 (GRCm39)	S43R	probably damaging	Het
Ercc5	T	C	1: 44,212,540 (GRCm39)	L666P	probably benign	Het
F5	A	G	1: 164,010,403 (GRCm39)	H378R	probably damaging	Het
Fat2	A	T	11: 55,174,718 (GRCm39)	N1998K	probably damaging	Het
Fbxo28	T	C	1: 182,169,099 (GRCm39)	D13G	unknown	Het
Fras1	T	C	5: 96,857,741 (GRCm39)	S2012P	probably benign	Het
Gm5624	T	A	14: 44,799,302 (GRCm39)	N41I	probably damaging	Het
Gm8104	A	G	14: 42,959,028 (GRCm39)	I73V	possibly damaging	Het
Gpr141b	T	C	13: 19,913,849 (GRCm39)		noncoding transcript	Het
Gpr68	G	A	12: 100,845,167 (GRCm39)	P126S	probably damaging	Het
Gucy1a2	A	T	9: 3,582,685 (GRCm39)	T156S	possibly damaging	Het
Hacl1	T	A	14: 31,336,221 (GRCm39)	Y429F	probably damaging	Het
Helq	C	T	5: 100,921,990 (GRCm39)	G738D	probably benign	Het
Hsd3b2	G	C	3: 98,619,553 (GRCm39)	P131A	probably damaging	Het
Il22ra1	G	T	4: 135,475,471 (GRCm39)	C247F	probably benign	Het
Ivl	T	C	3: 92,479,891 (GRCm39)	E58G	unknown	Het
Kcnk9	G	T	15: 72,417,948 (GRCm39)	Q61K	probably benign	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Loxhd1	G	T	18: 77,490,198 (GRCm39)	A1314S	probably damaging	Het
Lratd1	T	C	12: 14,200,226 (GRCm39)	Y167C	probably damaging	Het
Lrba	A	G	3: 86,259,175 (GRCm39)	I1397V	probably benign	Het
Lrig3	T	A	10: 125,832,920 (GRCm39)		probably null	Het
Lrrc36	A	G	8: 106,176,397 (GRCm39)	D378G	probably damaging	Het
Lrrc49	G	A	9: 60,505,474 (GRCm39)	T527I	probably damaging	Het
Map4k4	C	A	1: 40,062,620 (GRCm39)	T1195K	probably damaging	Het
Mrps33	G	A	6: 39,779,429 (GRCm39)	R89C	probably damaging	Het
Mtor	T	C	4: 148,547,349 (GRCm39)	V444A	probably benign	Het
Myh2	A	G	11: 67,079,764 (GRCm39)	E1046G	probably damaging	Het
Myo15b	G	T	11: 115,771,335 (GRCm39)		probably null	Het
Myo5c	T	C	9: 75,153,446 (GRCm39)	Y111H	probably damaging	Het
Ncoa4-ps	A	T	12: 119,225,506 (GRCm39)		noncoding transcript	Het
Ndufv2	G	C	17: 66,390,481 (GRCm39)	T163R	probably damaging	Het
Nf1	A	G	11: 79,444,794 (GRCm39)	N373S	possibly damaging	Het
Nwd2	A	G	5: 63,962,917 (GRCm39)	M834V	probably benign	Het
Ogfod2	T	C	5: 124,253,019 (GRCm39)	V343A	probably damaging	Het
Or11g2	C	T	14: 50,856,143 (GRCm39)	L155F	probably benign	Het
Or11j4	C	A	14: 50,630,786 (GRCm39)	S191*	probably null	Het
Or3a1b	A	T	11: 74,012,234 (GRCm39)	T40S	probably benign	Het
Or4c115	T	A	2: 88,928,050 (GRCm39)	T74S	probably benign	Het
Or51ag1	T	C	7: 103,155,248 (GRCm39)	I302V	possibly damaging	Het
Or52ab2	T	A	7: 102,969,621 (GRCm39)	M1K	probably null	Het
Or8g34	A	T	9: 39,373,410 (GRCm39)	I228F	probably damaging	Het
Parp1	T	A	1: 180,428,091 (GRCm39)		probably null	Het
Ppp3ca	A	T	3: 136,640,792 (GRCm39)	I448F	probably damaging	Het
Prss44	T	C	9: 110,646,272 (GRCm39)	V333A	probably damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rars1	A	C	11: 35,716,822 (GRCm39)	D231E	probably benign	Het
Rfc1	T	C	5: 65,421,722 (GRCm39)	Y1059C	probably damaging	Het
Rilpl1	T	A	5: 124,652,719 (GRCm39)	I2F	probably damaging	Het
Sarm1	G	T	11: 78,381,820 (GRCm39)	A221E	possibly damaging	Het
Serpina3f	A	G	12: 104,183,665 (GRCm39)	T176A	probably damaging	Het
Slc22a20	T	C	19: 6,035,695 (GRCm39)	E131G	probably benign	Het
Slc26a11	T	C	11: 119,263,979 (GRCm39)	V343A	probably damaging	Het
Slc2a4	A	G	11: 69,837,133 (GRCm39)	I9T	probably benign	Het
Slc39a6	G	T	18: 24,718,259 (GRCm39)	D599E	probably damaging	Het
Slc5a6	G	T	5: 31,198,020 (GRCm39)	S285*	probably null	Het
Spata9	A	G	13: 76,125,760 (GRCm39)	H81R	probably benign	Het
St7l	A	G	3: 104,826,812 (GRCm39)	E436G	probably damaging	Het
Tecrl	A	G	5: 83,427,077 (GRCm39)	I357T	probably damaging	Het
Thop1	C	T	10: 80,909,043 (GRCm39)	R25C	probably damaging	Het
Tmprss12	A	G	15: 100,190,428 (GRCm39)	E266G	probably benign	Het
Tpgs1	T	A	10: 79,511,344 (GRCm39)	V162D	possibly damaging	Het
Trpa1	C	T	1: 14,944,648 (GRCm39)	R1032Q	probably benign	Het
Tspan12	A	G	6: 21,795,699 (GRCm39)	Y164H	probably damaging	Het
Ubr4	T	C	4: 139,135,274 (GRCm39)	Y869H	probably damaging	Het
Vmn1r21	A	G	6: 57,820,799 (GRCm39)	I215T	probably benign	Het
Zan	A	T	5: 137,384,713 (GRCm39)	S5104T	unknown	Het
Zfp318	T	C	17: 46,722,980 (GRCm39)	V1661A	probably benign	Het
Zfp365	C	T	10: 67,724,772 (GRCm39)	R372K	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
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'- GGCTGAAAATTTCAAATTCTGTACA -3'
(R):5'- GCTTTATGAACTTCTAGAAGGAGAC -3'

Sequencing Primer
(F):5'- CAGAGTCCCAGATGATTTTGAGCC -3'
(R):5'- CATGAACACCTGGAGGA -3'

Posted On

2014-06-23