Mutagenetix > Incidental Mutation

Incidental Mutation 'R5902:Hus1'

456393

Institutional Source

Beutler Lab

Gene Symbol

Hus1

Ensembl Gene

ENSMUSG00000020413

Gene Name

HUS1 checkpoint clamp component

Synonyms

MMRRC Submission

044100-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8943137-8961191 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 8960669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114339 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020683

SMART Domains

Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127578

Predicted Effect

probably benign
Transcript: ENSMUST00000129115

SMART Domains

Protein: ENSMUSP00000114339
Gene: ENSMUSG00000020413

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

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.1%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,539,281 (GRCm39)	M1V	probably null	Het
Abca13	T	A	11: 9,247,177 (GRCm39)	L2308H	probably damaging	Het
Abcc8	T	C	7: 45,764,463 (GRCm39)	T1161A	probably benign	Het
Acin1	T	A	14: 54,901,130 (GRCm39)	T659S	probably benign	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Alkbh8	A	G	9: 3,385,414 (GRCm39)	K569E	probably benign	Het
Anxa3	A	T	5: 96,960,712 (GRCm39)	K39*	probably null	Het
Aoc2	A	G	11: 101,220,072 (GRCm39)	E659G	probably damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU022252	T	C	4: 119,084,101 (GRCm39)	D104G	probably benign	Het
Car6	T	C	4: 150,271,956 (GRCm39)	Y231C	possibly damaging	Het
Cdh10	T	G	15: 18,985,341 (GRCm39)		probably null	Het
Cebpz	A	C	17: 79,233,366 (GRCm39)	M787R	probably benign	Het
Chst2	A	G	9: 95,287,662 (GRCm39)	L228P	probably damaging	Het
Clic4	T	C	4: 134,999,869 (GRCm39)	K11R	probably benign	Het
Col6a3	C	T	1: 90,729,921 (GRCm39)		probably null	Het
Commd7	T	A	2: 153,463,737 (GRCm39)	T144S	probably damaging	Het
Ctla2a	T	A	13: 61,082,834 (GRCm39)	*138Y	probably null	Het
Dhx33	A	T	11: 70,879,957 (GRCm39)	V351D	probably damaging	Het
Dnah9	G	A	11: 65,916,013 (GRCm39)	T2313I	probably benign	Het
Dspp	A	T	5: 104,325,977 (GRCm39)	D780V	unknown	Het
Dync1li1	A	G	9: 114,546,929 (GRCm39)		probably null	Het
E2f3	C	T	13: 30,169,250 (GRCm39)		probably benign	Het
Fan1	T	C	7: 64,023,070 (GRCm39)		probably null	Het
Gart	A	G	16: 91,425,415 (GRCm39)	S617P	probably damaging	Het
Ggcx	A	G	6: 72,406,979 (GRCm39)	N705S	possibly damaging	Het
Gm4841	A	T	18: 60,403,868 (GRCm39)	V75E	probably damaging	Het
Greb1l	A	G	18: 10,538,302 (GRCm39)	E1105G	probably benign	Het
Hr	C	A	14: 70,795,231 (GRCm39)	Q288K	probably benign	Het
Ifi47	C	A	11: 48,986,213 (GRCm39)		probably null	Het
Irf2bp1	T	C	7: 18,738,372 (GRCm39)	V4A	probably benign	Het
Kprp	C	T	3: 92,731,835 (GRCm39)	C405Y	unknown	Het
Lacc1	T	C	14: 77,272,239 (GRCm39)	I186V	possibly damaging	Het
Lifr	A	G	15: 7,220,231 (GRCm39)	T954A	probably benign	Het
Lonrf2	T	C	1: 38,846,174 (GRCm39)	M333V	probably benign	Het
Mthfd1	A	T	12: 76,337,826 (GRCm39)	H400L	probably benign	Het
Myh4	A	G	11: 67,141,733 (GRCm39)	K864R	possibly damaging	Het
Nup50	C	T	15: 84,819,641 (GRCm39)	A305V	probably benign	Het
Or4a74	T	A	2: 89,439,595 (GRCm39)	I284L	probably damaging	Het
Or4k44	C	T	2: 111,367,739 (GRCm39)	M298I	probably benign	Het
Pax4	G	T	6: 28,447,126 (GRCm39)	Q3K	probably benign	Het
Pced1b	T	G	15: 97,282,970 (GRCm39)	Y336*	probably null	Het
Postn	C	A	3: 54,279,510 (GRCm39)	N329K	probably benign	Het
Prickle1	T	C	15: 93,408,553 (GRCm39)	E82G	probably null	Het
Prtn3	T	C	10: 79,718,766 (GRCm39)	Y241H	probably damaging	Het
Rasgrf2	A	T	13: 92,068,011 (GRCm39)	I260K	probably damaging	Het
Sh3glb1	T	C	3: 144,418,431 (GRCm39)	N44S	possibly damaging	Het
Sis	A	T	3: 72,867,589 (GRCm39)		probably null	Het
Slc4a9	A	G	18: 36,662,386 (GRCm39)		probably null	Het
Slc4a9	A	T	18: 36,664,560 (GRCm39)	D406V	probably damaging	Het
Slc8a1	C	T	17: 81,715,511 (GRCm39)	G841R	probably damaging	Het
Smn1	C	T	13: 100,263,412 (GRCm39)	P60L	probably benign	Het
Snai1	G	A	2: 167,383,930 (GRCm39)	C241Y	probably damaging	Het
Spock3	A	G	8: 63,808,336 (GRCm39)	D411G	unknown	Het
Szt2	T	A	4: 118,248,700 (GRCm39)	T607S	probably benign	Het
Tcap	A	T	11: 98,274,673 (GRCm39)	M1L	probably benign	Het
Tex29	A	T	8: 11,905,723 (GRCm39)		probably benign	Het
Tex29	C	A	8: 11,904,276 (GRCm39)		probably benign	Het
Tex29	C	T	8: 11,904,277 (GRCm39)		probably benign	Het
Tln2	T	C	9: 67,269,999 (GRCm39)	T467A	probably benign	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Ube2q1	T	A	3: 89,683,487 (GRCm39)	L144*	probably null	Het
Vps13c	A	G	9: 67,841,729 (GRCm39)	E1917G	probably benign	Het
Wdr19	T	A	5: 65,384,482 (GRCm39)	N525K	probably benign	Het
Wdr3	A	T	3: 100,051,807 (GRCm39)		probably benign	Het
Wnt5b	T	A	6: 119,425,199 (GRCm39)	H6L	probably benign	Het
Yju2	A	G	17: 56,269,077 (GRCm39)	T62A	probably damaging	Het
Zdbf2	T	C	1: 63,345,685 (GRCm39)	S1355P	possibly damaging	Het
Zfp11	T	A	5: 129,734,976 (GRCm39)	I162F	probably damaging	Het
Zpbp	T	C	11: 11,365,332 (GRCm39)	T172A	probably benign	Het

Other mutations in Hus1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Hus1	APN	11	8,950,082 (GRCm39)	missense	probably benign	0.00
IGL01974:Hus1	APN	11	8,950,088 (GRCm39)	missense	possibly damaging	0.58
IGL02301:Hus1	APN	11	8,946,915 (GRCm39)	missense	probably benign
IGL02436:Hus1	APN	11	8,956,057 (GRCm39)	missense	possibly damaging	0.93
R0694:Hus1	UTSW	11	8,957,531 (GRCm39)	nonsense	probably null
R2108:Hus1	UTSW	11	8,961,110 (GRCm39)	start codon destroyed	probably null	1.00
R2128:Hus1	UTSW	11	8,956,011 (GRCm39)	missense	probably damaging	1.00
R2329:Hus1	UTSW	11	8,957,492 (GRCm39)	critical splice donor site	probably null
R4363:Hus1	UTSW	11	8,948,676 (GRCm39)	missense	probably damaging	1.00
R4420:Hus1	UTSW	11	8,950,133 (GRCm39)	missense	probably damaging	1.00
R4453:Hus1	UTSW	11	8,956,035 (GRCm39)	missense	probably damaging	1.00
R4572:Hus1	UTSW	11	8,957,617 (GRCm39)	splice site	probably null
R4818:Hus1	UTSW	11	8,946,808 (GRCm39)	utr 3 prime	probably benign
R4913:Hus1	UTSW	11	8,946,856 (GRCm39)	missense	probably benign	0.03
R4989:Hus1	UTSW	11	8,956,027 (GRCm39)	missense	probably damaging	0.97
R5402:Hus1	UTSW	11	8,960,240 (GRCm39)	critical splice donor site	probably null
R6402:Hus1	UTSW	11	8,960,407 (GRCm39)	missense	probably damaging	1.00
R7792:Hus1	UTSW	11	8,950,133 (GRCm39)	missense	probably damaging	1.00
R9155:Hus1	UTSW	11	8,956,056 (GRCm39)	missense	probably damaging	1.00
R9469:Hus1	UTSW	11	8,948,744 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGAAACAGGCATTTGTGGC -3'
(R):5'- TCTGTGGAATGTGGAACCG -3'

Sequencing Primer
(F):5'- TGGAGCCCAGAACCTCTG -3'
(R):5'- AATGTGGAACCGCCTGG -3'

Posted On

2017-02-15