Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02301:Hus1'

290302

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hus1

Ensembl Gene

ENSMUSG00000020413

Gene Name

HUS1 checkpoint clamp component

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02301

Quality Score

Status

Chromosome

Chromosomal Location

8993137-9011191 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8996915 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 261 (T261A)

Ref Sequence

ENSEMBL: ENSMUSP00000114339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020683] [ENSMUST00000129115]

Predicted Effect

probably benign
Transcript: ENSMUST00000020683
AA Change: T261A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413
AA Change: T261A

Domain	Start	End	E-Value	Type
Pfam:Hus1	1	280	5.1e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129115
AA Change: T261A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114339
Gene: ENSMUSG00000020413
AA Change: T261A

Domain	Start	End	E-Value	Type
Pfam:Hus1	1	280	4.8e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152890

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a component of a cell cycle checkpoint complex that causes cell cycle arrest in response to bulky DNA lesions and DNA replication blockage. Together with the proteins Rad9 and Rad1, the encoded protein forms a heterotrimeric complex known as the 9-1-1 complex. Mice lacking the encoded protein develop spontaneous chromosomal abnormalities resulting in embryonic lethality. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	A	G	17: 32,332,926		probably benign	Het
Alk	T	C	17: 71,874,176	Q1373R	probably damaging	Het
Atf7ip2	T	G	16: 10,211,047	S148A	probably benign	Het
Bpi	C	T	2: 158,274,814	S377F	probably damaging	Het
Ccni	A	T	5: 93,188,175	C122S	possibly damaging	Het
Cd5l	A	G	3: 87,365,993	R90G	probably benign	Het
Ceacam3	C	T	7: 17,163,101	S664F	probably damaging	Het
Clca3a2	A	T	3: 144,806,372	D534E	probably damaging	Het
Ep400	A	T	5: 110,674,960	S2524R	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gart	A	G	16: 91,621,837		probably benign	Het
Gm9513	T	C	9: 36,477,187		probably benign	Het
Gsdmc4	A	G	15: 63,895,264	V219A	probably benign	Het
Lman2l	A	G	1: 36,443,543	I84T	probably damaging	Het
Megf8	G	A	7: 25,337,900	V742M	probably damaging	Het
Myo1d	A	G	11: 80,676,853	V267A	probably benign	Het
Notch2	A	G	3: 98,141,554	T1803A	probably benign	Het
Olfr1278	T	A	2: 111,292,697	M143K	probably benign	Het
Olfr23	T	A	11: 73,941,068	M274K	possibly damaging	Het
Olfr814	A	G	10: 129,874,079	F226S	probably damaging	Het
Pde5a	G	A	3: 122,760,885	R208Q	probably damaging	Het
Pla2r1	T	C	2: 60,452,436	N745S	probably benign	Het
Ptgdr2	T	A	19: 10,940,209	I30N	possibly damaging	Het
Rap1gap2	G	A	11: 74,407,369	T415I	probably damaging	Het
Slc6a6	T	C	6: 91,726,056	Y137H	probably benign	Het
Sptbn1	A	T	11: 30,142,129	D532E	probably damaging	Het
Stk39	T	C	2: 68,211,962	D543G	probably damaging	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Trrap	A	G	5: 144,777,917	I100V	probably benign	Het
Vmn1r-ps123	A	C	13: 22,996,357		noncoding transcript	Het
Vwa5b2	G	A	16: 20,604,790	G1151D	probably damaging	Het
Zfp358	T	A	8: 3,496,858	I480N	probably benign	Het
Zfp423	T	C	8: 87,781,574	D714G	probably damaging	Het

Other mutations in Hus1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Hus1	APN	11	9000082	missense	probably benign	0.00
IGL01974:Hus1	APN	11	9000088	missense	possibly damaging	0.58
IGL02436:Hus1	APN	11	9006057	missense	possibly damaging	0.93
R0694:Hus1	UTSW	11	9007531	nonsense	probably null
R2108:Hus1	UTSW	11	9011110	start codon destroyed	probably null	1.00
R2128:Hus1	UTSW	11	9006011	missense	probably damaging	1.00
R2329:Hus1	UTSW	11	9007492	critical splice donor site	probably null
R4363:Hus1	UTSW	11	8998676	missense	probably damaging	1.00
R4420:Hus1	UTSW	11	9000133	missense	probably damaging	1.00
R4453:Hus1	UTSW	11	9006035	missense	probably damaging	1.00
R4572:Hus1	UTSW	11	9007617	splice site	probably null
R4818:Hus1	UTSW	11	8996808	utr 3 prime	probably benign
R4913:Hus1	UTSW	11	8996856	missense	probably benign	0.03
R4989:Hus1	UTSW	11	9006027	missense	probably damaging	0.97
R5402:Hus1	UTSW	11	9010240	critical splice donor site	probably null
R5902:Hus1	UTSW	11	9010669	intron	probably benign
R6402:Hus1	UTSW	11	9010407	missense	probably damaging	1.00
R7792:Hus1	UTSW	11	9000133	missense	probably damaging	1.00

Posted On

2015-04-16