Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01532:Hgs'

89812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hgs

Ensembl Gene

ENSMUSG00000116045

Gene Name

Synonyms

Hrs

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

120467635-120483984 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 120477509 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026900] [ENSMUST00000106203] [ENSMUST00000106205] [ENSMUST00000140862]

Predicted Effect

probably benign
Transcript: ENSMUST00000026900

SMART Domains

Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045

Domain	Start	End	E-Value	Type
VHS	8	139	6.97e-63	SMART
FYVE	155	221	1.81e-31	SMART
UIM	258	277	1.81e-1	SMART
Pfam:Hrs_helical	406	500	1.2e-41	PFAM
low complexity region	637	658	N/A	INTRINSIC
low complexity region	746	767	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106203

SMART Domains

Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793

Domain	Start	End	E-Value	Type
VHS	8	139	6.97e-63	SMART
FYVE	155	221	1.81e-31	SMART
UIM	258	277	1.81e-1	SMART
Pfam:Hrs_helical	405	500	2.2e-48	PFAM
low complexity region	724	739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106205

SMART Domains

Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793

Domain	Start	End	E-Value	Type
VHS	8	139	6.97e-63	SMART
FYVE	155	221	1.81e-31	SMART
UIM	258	277	1.81e-1	SMART
Pfam:Hrs_helical	404	499	2.2e-48	PFAM
low complexity region	723	738	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000135231

SMART Domains

Protein: ENSMUSP00000115037
Gene: ENSMUSG00000025793

Domain	Start	End	E-Value	Type
Pfam:Hrs_helical	112	172	9.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140862

SMART Domains

Protein: ENSMUSP00000119396
Gene: ENSMUSG00000025793

Domain	Start	End	E-Value	Type
VHS	8	123	1.29e-48	SMART
FYVE	139	205	1.81e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141826

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis with decreased size and no embryo turning. In addition, one allele shows cardia bifida, no foregut formation, failure of chorioallantoic fusion and neural tube,somite and allantois defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,908,601	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,694,569	T260I	probably damaging	Het
Ambra1	G	T	2: 91,885,632	K769N	probably damaging	Het
Arel1	A	G	12: 84,934,162	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,849,502	C76*	probably null	Het
AW112010	C	A	19: 11,048,069		noncoding transcript	Het
Bfar	A	T	16: 13,687,387		probably benign	Het
Ccdc70	T	G	8: 21,973,283	L30V	probably damaging	Het
Chrm5	C	T	2: 112,479,232	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,470,954		probably benign	Het
Dlg5	T	C	14: 24,158,592	T849A	probably benign	Het
Dock8	G	T	19: 25,169,441	G1428V	probably damaging	Het
Eomes	T	C	9: 118,482,249	I380T	probably damaging	Het
Fam13a	T	C	6: 58,940,295	D532G	probably damaging	Het
Fopnl	A	G	16: 14,304,511	S130P	probably benign	Het
Gm10061	G	T	16: 89,151,302	*55L	probably null	Het
Gm27438	T	G	2: 87,252,925		probably benign	Het
Gpalpp1	T	C	14: 76,102,502	K124E	probably benign	Het
Hpn	T	A	7: 31,103,513	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,294,928		probably null	Het
Jag2	A	T	12: 112,914,363	C583S	probably damaging	Het
Katnal2	T	C	18: 77,012,000	H146R	probably benign	Het
Ldah	T	C	12: 8,220,596		probably benign	Het
Lvrn	T	A	18: 46,900,484	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,870,006	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,400,551	S518G	probably benign	Het
Ncf1	T	C	5: 134,226,593	N148S	probably benign	Het
Nes	T	G	3: 87,978,347	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,085,999		probably benign	Het
Olfr548-ps1	T	C	7: 102,542,656	L240P	probably damaging	Het
Rnf31	C	A	14: 55,602,623	Q968K	probably damaging	Het
Ros1	A	G	10: 52,090,938		probably benign	Het
Ryk	T	C	9: 102,897,266	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,273,040		probably null	Het
Sptssb	A	G	3: 69,820,869		probably benign	Het
Sstr5	T	C	17: 25,491,331	D308G	probably damaging	Het
Taf2	A	G	15: 55,049,486	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vti1b	A	C	12: 79,165,138	L1W	probably null	Het
Wdr1	T	C	5: 38,535,187	Y125C	probably damaging	Het

Other mutations in Hgs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Hgs	APN	11	120475214	missense	probably damaging	1.00
IGL01520:Hgs	APN	11	120478348	missense	probably damaging	1.00
IGL02346:Hgs	APN	11	120482551	missense	probably damaging	0.99
IGL02808:Hgs	APN	11	120469666	nonsense	probably null
LCD18:Hgs	UTSW	11	120469578	splice site	probably benign
R0100:Hgs	UTSW	11	120482852	missense	possibly damaging	0.83
R0462:Hgs	UTSW	11	120479144	missense	possibly damaging	0.96
R0653:Hgs	UTSW	11	120469078	missense	probably damaging	1.00
R0719:Hgs	UTSW	11	120471605	critical splice donor site	probably null
R1482:Hgs	UTSW	11	120480040	missense	probably benign	0.09
R1757:Hgs	UTSW	11	120480063	missense	probably damaging	0.98
R1782:Hgs	UTSW	11	120478505	missense	probably damaging	1.00
R2311:Hgs	UTSW	11	120479648	missense	probably damaging	1.00
R4077:Hgs	UTSW	11	120477376	missense	probably damaging	1.00
R4078:Hgs	UTSW	11	120483048	missense	probably benign	0.04
R4079:Hgs	UTSW	11	120483048	missense	probably benign	0.04
R4094:Hgs	UTSW	11	120469033	nonsense	probably null
R4204:Hgs	UTSW	11	120477187	missense	probably damaging	1.00
R4911:Hgs	UTSW	11	120477202	missense	probably damaging	0.98
R6477:Hgs	UTSW	11	120469655	missense	probably damaging	1.00
R6816:Hgs	UTSW	11	120471571	missense	probably damaging	1.00
R7264:Hgs	UTSW	11	120474313	missense	probably benign	0.00
R7633:Hgs	UTSW	11	120474302	missense	probably damaging	0.98
R7807:Hgs	UTSW	11	120479934	missense	probably damaging	1.00
X0024:Hgs	UTSW	11	120477314	missense	probably damaging	1.00
Z1177:Hgs	UTSW	11	120478565	missense	probably benign

Posted On

2013-12-03