Mutagenetix > Incidental Mutation

Incidental Mutation 'R1782:Hgs'

195419

Institutional Source

Beutler Lab

Gene Symbol

Hgs

Ensembl Gene

ENSMUSG00000116045

Gene Name

HGF-regulated tyrosine kinase substrate

Synonyms

Hrs, tn

MMRRC Submission

039813-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R1782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120358461-120374805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120369331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 340 (E340G)

Ref Sequence

ENSEMBL: ENSMUSP00000026900 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026900
AA Change: E340G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045
AA Change: E340G

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 damaging
Transcript: ENSMUST00000106203
AA Change: E340G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793
AA Change: E340G

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: E340G

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793
AA Change: E340G

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

unknown
Transcript: ENSMUST00000135231
AA Change: E61G

SMART Domains

Protein: ENSMUSP00000115037
Gene: ENSMUSG00000025793
AA Change: E61G

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

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,247,971 (GRCm39)	T2573S	probably benign	Het
Adgra3	G	T	5: 50,129,404 (GRCm39)	T738K	probably benign	Het
Adgrl4	C	T	3: 151,248,442 (GRCm39)	Q705*	probably null	Het
Atp2b1	T	G	10: 98,839,063 (GRCm39)	D630E	probably benign	Het
Atp2c1	G	A	9: 105,308,786 (GRCm39)	R577C	probably damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
C8g	T	A	2: 25,389,094 (GRCm39)	D163V	possibly damaging	Het
Catsper1	T	C	19: 5,385,937 (GRCm39)	Y57H	probably benign	Het
Ccdc25	C	T	14: 66,091,597 (GRCm39)	A72V	probably benign	Het
Cdca2	T	G	14: 67,915,260 (GRCm39)	E666D	probably benign	Het
Cdh23	G	A	10: 60,324,321 (GRCm39)	T313I	probably damaging	Het
Cfap57	C	A	4: 118,472,172 (GRCm39)	R69L	probably damaging	Het
Chat	C	A	14: 32,130,944 (GRCm39)	V566L	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Cog1	A	G	11: 113,544,792 (GRCm39)	T325A	probably benign	Het
Cxcl10	A	G	5: 92,495,662 (GRCm39)	*94Q	probably null	Het
Cyp4a12b	T	C	4: 115,291,178 (GRCm39)	Y369H	probably damaging	Het
Dhx33	T	C	11: 70,892,466 (GRCm39)	Y101C	probably damaging	Het
Dock6	A	G	9: 21,723,142 (GRCm39)	M1593T	probably damaging	Het
Dpy19l3	T	C	7: 35,407,580 (GRCm39)	T488A	possibly damaging	Het
Elapor2	A	T	5: 9,471,620 (GRCm39)	K320N	possibly damaging	Het
Fbxw14	A	G	9: 109,107,759 (GRCm39)	I205T	possibly damaging	Het
Fbxw7	T	C	3: 84,811,126 (GRCm39)	F84L	probably benign	Het
Flii	T	C	11: 60,605,462 (GRCm39)	T1212A	probably benign	Het
Fosl1	T	A	19: 5,500,210 (GRCm39)	I43N	probably damaging	Het
Gabrr2	G	A	4: 33,085,593 (GRCm39)	A338T	probably damaging	Het
Gask1b	T	C	3: 79,793,838 (GRCm39)	L102S	possibly damaging	Het
Gatad2b	T	C	3: 90,249,178 (GRCm39)	V72A	probably benign	Het
Gorasp1	G	T	9: 119,761,888 (GRCm39)	N48K	probably damaging	Het
Gramd1b	C	A	9: 40,324,633 (GRCm39)	D139Y	probably damaging	Het
Gtf3c1	A	T	7: 125,266,246 (GRCm39)	V1030E	probably damaging	Het
Havcr2	C	T	11: 46,345,844 (GRCm39)	T6I	unknown	Het
Irx2	A	G	13: 72,779,585 (GRCm39)	T290A	probably benign	Het
Itgb8	T	A	12: 119,155,853 (GRCm39)	I200F	probably damaging	Het
Josd2	A	G	7: 44,120,577 (GRCm39)	I105V	probably damaging	Het
Kcnh7	T	A	2: 62,566,513 (GRCm39)	D806V	probably damaging	Het
Kctd8	A	G	5: 69,498,319 (GRCm39)	V109A	possibly damaging	Het
Kmt2d	T	A	15: 98,755,429 (GRCm39)		probably benign	Het
Krtap2-4	A	T	11: 99,505,353 (GRCm39)	V86E	probably damaging	Het
Lgr6	C	G	1: 134,915,717 (GRCm39)	V344L	probably damaging	Het
Lime1	A	T	2: 181,024,849 (GRCm39)	R168W	possibly damaging	Het
Macroh2a1	A	T	13: 56,222,134 (GRCm39)	M339K	probably damaging	Het
Magel2	C	T	7: 62,030,605 (GRCm39)	Q1170*	probably null	Het
Ndufaf3	A	T	9: 108,443,210 (GRCm39)	I169N	probably damaging	Het
Neb	T	A	2: 52,174,357 (GRCm39)	K1501*	probably null	Het
Nim1k	A	T	13: 120,173,687 (GRCm39)	S402R	probably benign	Het
Nt5dc2	T	G	14: 30,860,158 (GRCm39)	S395R	probably damaging	Het
Oaz2	G	T	9: 65,596,143 (GRCm39)	V132L	probably benign	Het
Or2t45	T	A	11: 58,669,631 (GRCm39)	L226H	probably damaging	Het
Or4l1	A	T	14: 50,166,096 (GRCm39)	W302R	probably benign	Het
Or5b104	T	A	19: 13,072,167 (GRCm39)	I282F	probably damaging	Het
Or7g25	C	T	9: 19,159,877 (GRCm39)	V273I	probably benign	Het
Or8k39	T	C	2: 86,563,026 (GRCm39)	K310R	probably benign	Het
Pfkl	A	G	10: 77,824,554 (GRCm39)	V717A	probably benign	Het
Phf8-ps	T	C	17: 33,286,662 (GRCm39)	I47V	probably benign	Het
Phgdh	C	T	3: 98,228,063 (GRCm39)	V231I	probably damaging	Het
Pkhd1	A	T	1: 20,635,935 (GRCm39)	M465K	probably damaging	Het
Ppp3r1	A	G	11: 17,148,281 (GRCm39)	H163R	probably benign	Het
Prune2	T	A	19: 17,099,537 (GRCm39)	N1680K	probably benign	Het
Puf60	T	A	15: 75,943,724 (GRCm39)	I216L	probably benign	Het
Rev3l	T	A	10: 39,675,881 (GRCm39)	N190K	probably benign	Het
Rp1	G	A	1: 4,419,312 (GRCm39)	S600L	probably benign	Het
Rpl3l	A	G	17: 24,952,430 (GRCm39)	I217V	probably benign	Het
Scly	T	A	1: 91,236,102 (GRCm39)	V194D	probably damaging	Het
Scnn1b	A	G	7: 121,517,184 (GRCm39)	T607A	probably benign	Het
Slc13a3	G	A	2: 165,287,439 (GRCm39)	L172F	probably benign	Het
Sorbs2	A	G	8: 46,258,733 (GRCm39)	Y1090C	probably damaging	Het
Spag17	T	A	3: 99,918,070 (GRCm39)	M351K	probably benign	Het
St14	A	G	9: 31,011,460 (GRCm39)	Y444H	probably damaging	Het
Taf8	C	A	17: 47,809,136 (GRCm39)	A109S	probably benign	Het
Tbc1d30	T	A	10: 121,103,525 (GRCm39)	K502N	probably damaging	Het
Them5	T	C	3: 94,251,796 (GRCm39)	S136P	probably benign	Het
Tmem248	T	A	5: 130,260,769 (GRCm39)	N111K	probably damaging	Het
Tmem74	C	A	15: 43,730,348 (GRCm39)	V232L	probably damaging	Het
Tnip2	A	T	5: 34,657,012 (GRCm39)	H264Q	probably benign	Het
Trim5	A	G	7: 103,915,023 (GRCm39)		probably null	Het
Trim63	A	G	4: 134,050,349 (GRCm39)	Q211R	probably benign	Het
Trrap	T	C	5: 144,759,513 (GRCm39)	V2231A	possibly damaging	Het
Ttn	T	C	2: 76,565,831 (GRCm39)	S28174G	probably benign	Het
Ugt2b36	T	C	5: 87,229,440 (GRCm39)	D341G	possibly damaging	Het
Uroc1	G	A	6: 90,313,901 (GRCm39)	E63K	probably damaging	Het
Ush2a	T	C	1: 188,643,382 (GRCm39)	V4248A	probably benign	Het
Usp1	A	G	4: 98,822,435 (GRCm39)	H583R	probably damaging	Het
Usp8	T	A	2: 126,561,971 (GRCm39)	F55Y	probably damaging	Het
Vmn2r13	T	A	5: 109,306,040 (GRCm39)	T513S	probably benign	Het
Wdr73	T	C	7: 80,541,526 (GRCm39)	T339A	probably damaging	Het
Wnt2	T	A	6: 18,008,639 (GRCm39)	N266I	possibly damaging	Het
Wwp2	AGAACT	A	8: 108,233,031 (GRCm39)		probably null	Het

Other mutations in Hgs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Hgs	APN	11	120,366,040 (GRCm39)	missense	probably damaging	1.00
IGL01520:Hgs	APN	11	120,369,174 (GRCm39)	missense	probably damaging	1.00
IGL01532:Hgs	APN	11	120,368,335 (GRCm39)	splice site	probably null
IGL02346:Hgs	APN	11	120,373,377 (GRCm39)	missense	probably damaging	0.99
IGL02808:Hgs	APN	11	120,360,492 (GRCm39)	nonsense	probably null
LCD18:Hgs	UTSW	11	120,360,404 (GRCm39)	splice site	probably benign
R0100:Hgs	UTSW	11	120,373,678 (GRCm39)	missense	possibly damaging	0.83
R0462:Hgs	UTSW	11	120,369,970 (GRCm39)	missense	possibly damaging	0.96
R0653:Hgs	UTSW	11	120,359,904 (GRCm39)	missense	probably damaging	1.00
R0719:Hgs	UTSW	11	120,362,431 (GRCm39)	critical splice donor site	probably null
R1482:Hgs	UTSW	11	120,370,866 (GRCm39)	missense	probably benign	0.09
R1757:Hgs	UTSW	11	120,370,889 (GRCm39)	missense	probably damaging	0.98
R2311:Hgs	UTSW	11	120,370,474 (GRCm39)	missense	probably damaging	1.00
R4077:Hgs	UTSW	11	120,368,202 (GRCm39)	missense	probably damaging	1.00
R4078:Hgs	UTSW	11	120,373,874 (GRCm39)	missense	probably benign	0.04
R4079:Hgs	UTSW	11	120,373,874 (GRCm39)	missense	probably benign	0.04
R4094:Hgs	UTSW	11	120,359,859 (GRCm39)	nonsense	probably null
R4204:Hgs	UTSW	11	120,368,013 (GRCm39)	missense	probably damaging	1.00
R4911:Hgs	UTSW	11	120,368,028 (GRCm39)	missense	probably damaging	0.98
R6477:Hgs	UTSW	11	120,360,481 (GRCm39)	missense	probably damaging	1.00
R6816:Hgs	UTSW	11	120,362,397 (GRCm39)	missense	probably damaging	1.00
R7264:Hgs	UTSW	11	120,365,139 (GRCm39)	missense	probably benign	0.00
R7633:Hgs	UTSW	11	120,365,128 (GRCm39)	missense	probably damaging	0.98
R7807:Hgs	UTSW	11	120,370,760 (GRCm39)	missense	probably damaging	1.00
R8683:Hgs	UTSW	11	120,366,044 (GRCm39)	nonsense	probably null
R8733:Hgs	UTSW	11	120,360,954 (GRCm39)	critical splice donor site	probably null
R8798:Hgs	UTSW	11	120,370,938 (GRCm39)	missense	probably benign	0.08
R8866:Hgs	UTSW	11	120,360,464 (GRCm39)	missense	probably benign	0.10
R8910:Hgs	UTSW	11	120,369,202 (GRCm39)	critical splice donor site	probably null
R9081:Hgs	UTSW	11	120,366,076 (GRCm39)	splice site	probably benign
X0024:Hgs	UTSW	11	120,368,140 (GRCm39)	missense	probably damaging	1.00
Z1177:Hgs	UTSW	11	120,369,391 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGTCTCCCCAGAACTCATCAGCAC -3'
(R):5'- ATGCCTGGTCTGCACACAAAGCAC -3'

Sequencing Primer
(F):5'- ACCTCTGGCTGAGGACATC -3'
(R):5'- TCTGTCTCTGGAAGAGGAGCC -3'

Posted On

2014-05-23