Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Hgs'

316770

Institutional Source

Beutler Lab

Gene Symbol

Hgs

Ensembl Gene

ENSMUSG00000116045

Gene Name

Synonyms

Hrs

MMRRC Submission

040976-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120467635-120483984 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120483048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 723 (S723T)

Ref Sequence

ENSEMBL: ENSMUSP00000026900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026900] [ENSMUST00000043627] [ENSMUST00000106203] [ENSMUST00000106205]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026900
AA Change: S723T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045
AA Change: S723T

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: ENSMUST00000043627

SMART Domains

Protein: ENSMUSP00000044417
Gene: ENSMUSG00000039640

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
Pfam:Ribosomal_L12_N	64	120	4.5e-13	PFAM
Pfam:Ribosomal_L12	133	201	5.4e-22	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000106203
AA Change: V722D

SMART Domains

Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793
AA Change: V722D

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

unknown
Transcript: ENSMUST00000106205
AA Change: V721D

SMART Domains

Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793
AA Change: V721D

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 benign
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

noncoding transcript
Transcript: ENSMUST00000137619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180595

Meta Mutation Damage Score

0.0829

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,353,680		probably null	Het
Ankfy1	C	A	11: 72,690,009		probably benign	Het
Ap4b1	T	A	3: 103,813,378	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,975,292	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,993,501	I88N	probably damaging	Het
Armc9	A	T	1: 86,213,129		probably benign	Het
Bnc1	T	C	7: 81,973,760	E573G	probably damaging	Het
Btaf1	A	G	19: 36,986,479	T817A	probably benign	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,341,669	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 122,647,695		probably null	Het
Ccdc18	C	T	5: 108,158,528	Q270*	probably null	Het
Cdc45	A	T	16: 18,811,360	V19D	probably damaging	Het
Cfap57	C	A	4: 118,598,997	S500I	probably benign	Het
Cnga3	A	T	1: 37,241,865	Q47L	possibly damaging	Het
Corin	T	C	5: 72,503,883	D89G	probably benign	Het
Cox16	A	T	12: 81,474,335		probably benign	Het
Cyp2a4	A	G	7: 26,307,366	N50S	probably benign	Het
Diaph1	T	A	18: 37,853,583	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,148,260	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,669,007		probably null	Het
F13b	T	A	1: 139,501,770	F9I	unknown	Het
Fcer1a	C	T	1: 173,225,353	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,755,612	V318A	probably damaging	Het
Fzd9	A	G	5: 135,249,636	V465A	probably benign	Het
Gm10354	A	T	5: 14,977,649	L71Q	probably damaging	Het
Hbs1l	T	C	10: 21,352,602	V493A	probably damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Kpna7	A	G	5: 145,005,927	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,710,284		probably null	Het
Lrig3	A	C	10: 126,009,787	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,096,037	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,542,849	L152W	probably damaging	Het
Mog	A	G	17: 37,012,410	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,462,270	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,491,057	R531Q	probably damaging	Het
Mx2	A	G	16: 97,556,036	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,079,491	Y323H	probably damaging	Het
Nup188	G	A	2: 30,309,878	D305N	probably damaging	Het
Obscn	A	G	11: 59,038,363	V6145A	probably benign	Het
Olfr1037	A	G	2: 86,085,312	V155A	possibly damaging	Het
Olfr686	A	T	7: 105,204,021	H107Q	probably damaging	Het
Patl1	C	T	19: 11,931,630	A467V	probably damaging	Het
Pdss2	A	T	10: 43,402,522	M342L	probably benign	Het
Phax	A	G	18: 56,575,979	N183S	possibly damaging	Het
Pnck	A	T	X: 73,658,155	V93E	probably damaging	Het
Prol1	A	G	5: 88,328,216	N155S	unknown	Het
Ptprk	G	A	10: 28,263,512	V78I	probably benign	Het
Ptpru	A	T	4: 131,798,710		probably null	Het
Ptprv	A	G	1: 135,110,430		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,757	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,849,977	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,285,029	S693P	probably benign	Het
Scyl2	A	T	10: 89,640,596	M889K	probably benign	Het
Serpina3a	C	T	12: 104,119,675	Q320*	probably null	Het
Slc12a1	A	T	2: 125,200,623	N733I	possibly damaging	Het
Snap47	C	T	11: 59,428,551	V254I	probably benign	Het
St6galnac2	A	T	11: 116,681,898	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tjp2	A	T	19: 24,108,818	V780E	possibly damaging	Het
Tns1	G	A	1: 73,995,308	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,430,080	L3P	possibly damaging	Het
Ung	G	T	5: 114,130,623		probably null	Het
Usp32	T	A	11: 85,039,229	Y574F	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
IGL01532:Hgs	APN	11	120477509	splice site	probably null
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
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
R8683:Hgs	UTSW	11	120475218	nonsense	probably null
R8733:Hgs	UTSW	11	120470128	critical splice donor site	probably null
R8798:Hgs	UTSW	11	120480112	missense	probably benign	0.08
R8866:Hgs	UTSW	11	120469638	missense	probably benign	0.10
R8910:Hgs	UTSW	11	120478376	critical splice donor site	probably null
R9081:Hgs	UTSW	11	120475250	splice site	probably benign
X0024:Hgs	UTSW	11	120477314	missense	probably damaging	1.00
Z1177:Hgs	UTSW	11	120478565	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCCGTACAATATGCAGGTAAAG -3'
(R):5'- TGTGCAATATGGACGCATGTG -3'

Sequencing Primer
(F):5'- GGTAAAGAGACCTAGTCTTTGCTAG -3'
(R):5'- TATGGACGCATGTGTACATACG -3'

Posted On

2015-05-15