Mutagenetix > Incidental Mutations

Incidental Mutation 'R7792:Hus1'

599963

Institutional Source

Beutler Lab

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 #

R7792 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8993137-9011191 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9000133 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 196 (E196G)

Ref Sequence

ENSEMBL: ENSMUSP00000114339 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020683
AA Change: E196G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413
AA Change: E196G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129115
AA Change: E196G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114339
Gene: ENSMUSG00000020413
AA Change: E196G

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

0.7851

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	A	18: 12,181,599	D289N	probably damaging	Het
Aars	G	T	8: 111,043,264	V332F	possibly damaging	Het
Abhd15	T	A	11: 77,518,734	S425T	probably benign	Het
Acads	A	T	5: 115,112,781	F152L	probably damaging	Het
Acpp	T	A	9: 104,326,966	H43L	probably damaging	Het
Adora2a	A	G	10: 75,333,646	S315G	probably benign	Het
Agxt2	A	T	15: 10,381,386	D242V	probably damaging	Het
Alx4	A	G	2: 93,642,711	D18G	probably damaging	Het
Ankrd11	A	G	8: 122,884,231	S2639P	probably damaging	Het
Arhgap35	A	T	7: 16,561,528	V1204D	possibly damaging	Het
Arid2	A	G	15: 96,369,375	T579A	probably benign	Het
B4galt1	C	T	4: 40,809,373	G332S	probably benign	Het
B4galt4	C	A	16: 38,757,810	Y206*	probably null	Het
Bcl2l14	A	T	6: 134,432,314	T284S	possibly damaging	Het
Bop1	C	T	15: 76,454,348	V465M	probably damaging	Het
Cacna1b	A	T	2: 24,677,965	L1037H	probably damaging	Het
Cadm2	G	A	16: 66,771,637	T254M	probably benign	Het
Ccdc180	T	C	4: 45,890,389		probably null	Het
Ccdc7a	A	T	8: 128,892,437	D875E	possibly damaging	Het
Cenpu	A	G	8: 46,562,467	D139G	possibly damaging	Het
Cep57l1	A	T	10: 41,722,940	C292*	probably null	Het
Chst14	A	G	2: 118,927,775	H350R	probably benign	Het
Clca3a1	T	A	3: 144,749,731	I434F	possibly damaging	Het
Crispld2	A	G	8: 120,031,070	T385A	probably benign	Het
Crmp1	A	C	5: 37,284,095	N507T	probably damaging	Het
Cyp4f40	T	A	17: 32,671,169	I271N	probably damaging	Het
D630003M21Rik	G	T	2: 158,210,162	Q670K	possibly damaging	Het
Ddx42	T	C	11: 106,236,996	I342T	probably damaging	Het
Dnah9	T	A	11: 65,850,013	I4116F	probably damaging	Het
Ehd2	T	C	7: 15,950,758	H372R	probably benign	Het
Gja8	C	A	3: 96,919,776	C190F	probably damaging	Het
Gm13088	A	G	4: 143,654,553	L300P	probably benign	Het
Gm8297	A	T	14: 4,984,945	D72V	possibly damaging	Het
Golgb1	A	G	16: 36,918,730	D2518G	probably benign	Het
Hsd17b12	C	A	2: 94,033,641	M285I	probably benign	Het
Irf2	G	A	8: 46,807,279	R82Q	probably damaging	Het
Irx2	A	G	13: 72,631,374	D259G	possibly damaging	Het
Jph1	T	A	1: 17,004,378	Q472L	probably benign	Het
Kif2a	T	C	13: 106,987,982	Q142R	probably benign	Het
Lonp1	T	C	17: 56,622,515	Y174C	probably damaging	Het
Mapk14	T	C	17: 28,746,297	F348L	probably damaging	Het
March10	G	T	11: 105,390,228	D410E	probably benign	Het
Mff	A	T	1: 82,747,081		probably null	Het
Necab3	G	A	2: 154,546,280	R271C	probably damaging	Het
Nlrp4e	T	A	7: 23,321,757	F556L	possibly damaging	Het
Nt5c2	T	C	19: 46,889,946	K425E	probably benign	Het
Ofcc1	A	T	13: 40,142,826	W511R	probably damaging	Het
Olfr1283	T	C	2: 111,369,403	I257T	probably benign	Het
Olfr347	A	C	2: 36,734,330	E3A	probably benign	Het
Olfr551	T	A	7: 102,588,883		probably benign	Het
Olfr56	T	A	11: 49,134,669	I159N	possibly damaging	Het
P2rx2	G	C	5: 110,340,344	A448G	possibly damaging	Het
Papd5	A	T	8: 88,252,554	Q561L	probably benign	Het
Pcnx2	A	T	8: 125,892,018	N56K	possibly damaging	Het
Pdzd7	A	C	19: 45,040,218	M162R	possibly damaging	Het
Phyhd1	A	G	2: 30,266,770	M1V	probably null	Het
Pla2g16	T	C	19: 7,579,295	C154R	probably benign	Het
Plekha5	A	G	6: 140,589,224	E1126G	possibly damaging	Het
Plekhm1	A	T	11: 103,397,060	V87D	probably damaging	Het
R3hcc1	T	C	14: 69,705,508	M207V	probably benign	Het
R3hcc1l	T	A	19: 42,563,964	S467T	probably damaging	Het
Rasgrp4	G	T	7: 29,143,102	R267L	probably damaging	Het
Rbm20	T	C	19: 53,850,136	I848T	probably benign	Het
Rims2	T	C	15: 39,198,528	S56P	possibly damaging	Het
Sacs	T	A	14: 61,209,773	D3089E	probably benign	Het
Sall2	C	T	14: 52,316,064	G16R	probably damaging	Het
Scgb1b19	G	A	7: 33,288,487	C93Y	probably damaging	Het
Scn3a	T	A	2: 65,466,990	K1442*	probably null	Het
Sepsecs	A	G	5: 52,644,049	S424P	probably damaging	Het
Set	G	T	2: 30,070,311	V219F	probably benign	Het
Sh3tc1	A	T	5: 35,710,951	F390I	probably damaging	Het
Simc1	G	A	13: 54,547,330	V1269M	probably damaging	Het
Ska3	T	G	14: 57,810,055	D341A	probably damaging	Het
Skiv2l2	A	T	13: 112,872,909	D985E	probably benign	Het
Srgap1	T	A	10: 121,925,967	N92I	probably damaging	Het
Sspo	T	C	6: 48,454,690	V639A	probably damaging	Het
Stk11	A	T	10: 80,125,437		probably benign	Het
Sult5a1	G	A	8: 123,145,441	H221Y	probably benign	Het
Sytl3	T	A	17: 6,736,578	M559K	probably benign	Het
Tab2	A	C	10: 7,919,133	D528E	possibly damaging	Het
Tbc1d15	A	G	10: 115,221,587	I218T	possibly damaging	Het
Tenm4	T	A	7: 96,774,014	M672K	possibly damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Thsd1	G	T	8: 22,243,098	G54W	probably damaging	Het
Tmprss15	A	T	16: 79,003,387	L618I	probably damaging	Het
Top3a	T	C	11: 60,742,964	S769G	probably benign	Het
Trp63	C	A	16: 25,868,224	P396Q	possibly damaging	Het
Ttc30a2	T	C	2: 75,976,929	N413S	probably benign	Het
Uggt1	T	C	1: 36,207,984	S311G	probably damaging	Het
Usp10	G	A	8: 119,952,001	E574K	possibly damaging	Het
Wfdc6b	T	A	2: 164,617,902	I148K	probably damaging	Het
Zcchc2	T	G	1: 106,018,252	I474R	probably damaging	Het
Zdhhc2	A	G	8: 40,447,141	K82R	probably benign	Het
Zfp273	A	G	13: 67,826,016	D421G	possibly damaging	Het
Zfp280d	T	C	9: 72,331,319	I639T	probably damaging	Het
Zfp429	A	T	13: 67,390,439	C295*	probably null	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
IGL02301:Hus1	APN	11	8996915	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TCTAATCTAAGCCCCTTCTCAAATG -3'
(R):5'- AGCCTTTGTCAGCACTCCTG -3'

Sequencing Primer
(F):5'- TCTAAGCCCCTTCTCAAATGGGAAAC -3'
(R):5'- TTTGTCAGCACTCCTGGGAGAC -3'

Posted On

2019-11-26