Mutagenetix > Incidental Mutation

Incidental Mutation 'R7807:Hgs'

600882

Institutional Source

Beutler Lab

Gene Symbol

Hgs

Ensembl Gene

ENSMUSG00000116045

Gene Name

Synonyms

Hrs

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

R7807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120467635-120483984 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120479934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 567 (A567S)

Ref Sequence

ENSEMBL: ENSMUSP00000026900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026900] [ENSMUST00000043627] [ENSMUST00000106203] [ENSMUST00000106205] [ENSMUST00000140862]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026900
AA Change: A567S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045
AA Change: A567S

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

probably damaging
Transcript: ENSMUST00000106203
AA Change: A567S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793
AA Change: A567S

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
AA Change: A566S

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793
AA Change: A566S

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

SMART Domains

Protein: ENSMUSP00000115037
Gene: ENSMUSG00000025793
AA Change: A238S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,710,865	K1092E	probably damaging	Het
AB124611	C	A	9: 21,535,980	T146K	probably benign	Het
Alms1	T	A	6: 85,622,976	S1595T	possibly damaging	Het
Ankrd44	A	T	1: 54,792,476	I56N	probably damaging	Het
Anln	C	A	9: 22,360,880	V648F	probably damaging	Het
Arhgap29	A	G	3: 122,014,332	D1053G	probably benign	Het
Baalc	T	C	15: 38,934,017	S68P	probably benign	Het
Begain	T	C	12: 109,038,930	D52G	probably damaging	Het
Blmh	A	G	11: 76,946,214	I41V	probably benign	Het
Bpifc	T	A	10: 85,976,250	I365F	possibly damaging	Het
C2	G	T	17: 34,876,371	S199R	possibly damaging	Het
Ccbe1	T	A	18: 66,066,757	H298L	probably damaging	Het
Ccdc112	T	A	18: 46,290,759	K304I	probably damaging	Het
Ccdc15	T	C	9: 37,315,382	E432G	probably benign	Het
Cdh13	T	A	8: 118,283,855	M1K	probably null	Het
Cipc	T	C	12: 86,962,125	S253P	possibly damaging	Het
Clcn1	A	G	6: 42,310,348		probably null	Het
Clock	A	T	5: 76,243,135	N273K	probably benign	Het
Cyp19a1	T	C	9: 54,166,842	D476G	probably benign	Het
Dnah7b	A	G	1: 46,214,367	I1811V	probably benign	Het
Fat1	C	A	8: 45,041,973	T4091K	probably damaging	Het
Gm10340	T	A	14: 3,134,925	N64K	probably damaging	Het
Gm12394	A	C	4: 42,793,885	H82Q	probably benign	Het
Hectd1	G	A	12: 51,745,388	R2523C	probably damaging	Het
Hgf	A	G	5: 16,577,011	H244R	probably damaging	Het
Igdcc4	T	C	9: 65,133,795	V1036A	probably benign	Het
Keg1	G	A	19: 12,714,634		probably null	Het
Klhl8	A	T	5: 103,876,066	L156Q	probably damaging	Het
Lmln	T	C	16: 33,107,131	Y521H	probably benign	Het
Lrrc7	A	G	3: 158,160,487	S1206P	probably damaging	Het
Mad1l1	T	A	5: 140,088,786	I550F	probably benign	Het
Marf1	C	T	16: 14,153,889	W28*	probably null	Het
Mfsd11	T	G	11: 116,863,907	S215A	probably benign	Het
Mpped2	C	A	2: 106,744,740	H57N	possibly damaging	Het
Mslnl	A	G	17: 25,746,777	M542V	probably benign	Het
Myh6	G	T	14: 54,942,440	H1903Q	probably damaging	Het
Neo1	T	C	9: 58,990,494	T60A	probably benign	Het
Npm2	T	A	14: 70,652,507		probably null	Het
Olfr1165-ps	T	C	2: 88,101,565	S141G	probably benign	Het
Olfr1355	T	A	10: 78,879,209	S12R	probably benign	Het
Olfr1487	C	A	19: 13,619,921	T210K	probably damaging	Het
Pax9	A	T	12: 56,697,065	I166F	possibly damaging	Het
Pcsk9	A	G	4: 106,463,895	S6P	possibly damaging	Het
Pikfyve	A	G	1: 65,269,942	Y1893C	probably damaging	Het
Pirb	T	C	7: 3,719,865	T43A	possibly damaging	Het
Pou3f1	A	G	4: 124,658,281	D192G	possibly damaging	Het
Pus3	C	G	9: 35,566,725	R418G	probably damaging	Het
Rexo1	C	T	10: 80,550,136	V363I	probably benign	Het
Sdcbp	A	G	4: 6,393,688	T269A	probably damaging	Het
Sele	T	C	1: 164,053,893	V523A	probably benign	Het
Serpinb8	T	A	1: 107,604,727	M183K	probably damaging	Het
Sh2d4a	T	G	8: 68,282,381	S51A	probably benign	Het
Siglec15	A	G	18: 78,047,481	S201P	probably damaging	Het
Slc10a5	C	T	3: 10,335,469	V44I	probably benign	Het
Slc16a13	A	G	11: 70,220,562	V39A	probably damaging	Het
Slc25a13	G	A	6: 6,117,164	R184W	probably damaging	Het
Slc35f5	T	A	1: 125,584,541	D359E	probably damaging	Het
Slc3a1	A	G	17: 85,063,943	E641G	probably benign	Het
Slf1	T	C	13: 77,046,704	D834G	probably damaging	Het
Stim1	T	C	7: 102,427,141	I433T	probably damaging	Het
Stra6	T	A	9: 58,150,161	I418K	probably damaging	Het
Tanc2	A	G	11: 105,867,654	N747S	probably benign	Het
Tet2	T	C	3: 133,486,541	T711A	possibly damaging	Het
Trpm6	T	C	19: 18,829,856	I988T	probably benign	Het
Ttc41	T	A	10: 86,776,631	I1256N	probably benign	Het
Uba2	T	C	7: 34,163,213	D100G	possibly damaging	Het
Vmn1r43	A	G	6: 89,870,237	I89T	probably benign	Het
Vmn2r58	T	A	7: 41,872,486	Y62F	probably benign	Het
Ylpm1	C	T	12: 85,014,081	Q428*	probably null	Het
Zcrb1	T	C	15: 93,391,121	D88G	probably damaging	Het
Zmym1	A	C	4: 127,047,874	I907S	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
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
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'- TGGCACAGAAACTGGAGATC -3'
(R):5'- ATACACACCATGCATCGGAGAG -3'

Sequencing Primer
(F):5'- AGGTATGGCAGCTGACCCAG -3'
(R):5'- ATCGGAGAGCCCTCTACTGAG -3'

Posted On

2019-11-26