Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Hus1'

343413

Institutional Source

Beutler Lab

Gene Symbol

Hus1

Ensembl Gene

ENSMUSG00000020413

Gene Name

HUS1 checkpoint clamp component

Synonyms

MMRRC Submission

041796-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4572 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

8943137-8961191 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 8957617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020683 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020683

SMART Domains

Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413

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

Predicted Effect

probably null
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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,107,374 (GRCm39)	I747N	probably benign	Het
Adamtsl2	A	G	2: 26,973,268 (GRCm39)	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,212,007 (GRCm39)		probably benign	Het
Alpk2	A	T	18: 65,414,075 (GRCm39)	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,639,340 (GRCm39)		probably null	Het
Apobec1	T	C	6: 122,558,356 (GRCm39)	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,283,366 (GRCm39)	I181N	probably damaging	Het
Cilp2	A	G	8: 70,335,060 (GRCm39)	V646A	probably damaging	Het
Clasrp	A	G	7: 19,318,389 (GRCm39)		probably null	Het
Cnot2	T	C	10: 116,330,751 (GRCm39)	T423A	probably benign	Het
Crtap	T	C	9: 114,213,874 (GRCm39)	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,658,990 (GRCm39)	F217S	probably damaging	Het
Ddx60	A	G	8: 62,440,455 (GRCm39)	M1036V	probably damaging	Het
Dnah11	A	T	12: 117,973,860 (GRCm39)	I2818N	probably benign	Het
Dok6	T	A	18: 89,492,071 (GRCm39)	I169F	possibly damaging	Het
Duox2	T	A	2: 122,112,207 (GRCm39)	R1326S	probably benign	Het
Epha10	A	G	4: 124,796,361 (GRCm39)	T357A	unknown	Het
Ephb2	A	C	4: 136,383,251 (GRCm39)	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,634 (GRCm39)		probably null	Het
Gabrb2	A	G	11: 42,484,744 (GRCm39)	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,282,001 (GRCm39)	Y452F	probably benign	Het
Gen1	A	G	12: 11,292,419 (GRCm39)	S457P	probably damaging	Het
Gm1993	C	T	X: 25,515,656 (GRCm39)	R77H	probably damaging	Het
Gm5592	G	A	7: 40,865,583 (GRCm39)		probably benign	Het
Hmbox1	A	G	14: 65,140,682 (GRCm39)		probably null	Het
Ino80	G	A	2: 119,232,839 (GRCm39)	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,212,412 (GRCm39)	F27L	probably damaging	Het
Kri1	A	T	9: 21,191,680 (GRCm39)	F187L	probably damaging	Het
Lekr1	A	T	3: 65,691,336 (GRCm39)		noncoding transcript	Het
Mapk15	T	C	15: 75,870,599 (GRCm39)		probably benign	Het
Mrgpre	G	A	7: 143,334,841 (GRCm39)	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399 (GRCm39)	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Mup15	A	G	4: 61,356,454 (GRCm39)		probably null	Het
Ncapd3	A	G	9: 27,005,911 (GRCm39)	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 19,760,606 (GRCm39)		probably null	Het
Npy6r	A	T	18: 44,408,984 (GRCm39)	Y135F	probably benign	Het
Or7e170	A	C	9: 19,795,275 (GRCm39)	C109G	probably benign	Het
Phf14	G	A	6: 12,006,823 (GRCm39)	R825Q	probably damaging	Het
Pigg	A	G	5: 108,480,751 (GRCm39)	M379V	probably benign	Het
Plppr3	T	A	10: 79,701,897 (GRCm39)	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,932,717 (GRCm39)	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,272,614 (GRCm39)	S2A	probably benign	Het
Qrfprl	A	T	6: 65,431,975 (GRCm39)	M293L	probably benign	Het
Rab4a	A	T	8: 124,560,799 (GRCm39)	D196V	probably benign	Het
Rbck1	G	A	2: 152,160,653 (GRCm39)	Q428*	probably null	Het
Rgs14	A	T	13: 55,527,875 (GRCm39)	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,864,967 (GRCm39)		probably benign	Het
Sesn3	G	A	9: 14,232,516 (GRCm39)	R263H	probably benign	Het
Slfn1	A	T	11: 83,012,289 (GRCm39)	D135V	probably benign	Het
Spata17	T	C	1: 186,926,193 (GRCm39)	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,425,760 (GRCm39)	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,713,888 (GRCm39)	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,738,649 (GRCm39)	D179G	probably damaging	Het
Tll1	A	G	8: 64,509,343 (GRCm39)	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,224,461 (GRCm39)		probably null	Het
Trappc9	G	T	15: 72,808,916 (GRCm39)	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,060,395 (GRCm39)	C460*	probably null	Het
Trim35	T	C	14: 66,545,322 (GRCm39)	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,479 (GRCm39)	H209Q	probably benign	Het
Ulk4	T	C	9: 121,021,830 (GRCm39)	K627R	probably damaging	Het
Wnk1	T	C	6: 119,928,872 (GRCm39)	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,622,981 (GRCm39)	R141C	probably damaging	Het
Zfp735	A	G	11: 73,580,611 (GRCm39)	M37V	probably benign	Het
Zmym1	A	T	4: 126,944,628 (GRCm39)	N186K	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
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
R5902:Hus1	UTSW	11	8,960,669 (GRCm39)	intron	probably benign
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'- GGGACATACTCACATAATGACTCAC -3'
(R):5'- TCAGTCACCACGATGTTGAGAG -3'

Sequencing Primer
(F):5'- TTTCTTTTCAGAAACTATGCAACTTC -3'
(R):5'- TCACCACGATGTTGAGAGACTCG -3'

Posted On

2015-09-24