Mutagenetix > Incidental Mutation

Incidental Mutation 'R4077:Hgs'

316638

Institutional Source

Beutler Lab

Gene Symbol

Hgs

Ensembl Gene

ENSMUSG00000116045

Gene Name

HGF-regulated tyrosine kinase substrate

Synonyms

Hrs, tn

MMRRC Submission

041622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

R4077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120358461-120374805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120368202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 277 (K277E)

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: K277E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045
AA Change: K277E

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: K277E

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

SMART Domains

Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793
AA Change: K277E

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 damaging
Transcript: ENSMUST00000106205
AA Change: K277E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793
AA Change: K277E

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

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

Meta Mutation Damage Score

0.2718

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (81/82)

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
Abhd12	T	A	2: 150,690,379 (GRCm39)		probably null	Het
Adam33	T	C	2: 130,905,444 (GRCm39)		probably benign	Het
Adrm1b	A	C	3: 92,336,195 (GRCm39)		probably benign	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Atrn	T	C	2: 130,806,850 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cdnf	A	G	2: 3,522,060 (GRCm39)	Y84C	probably damaging	Het
Chdh	T	C	14: 29,757,297 (GRCm39)	S407P	probably damaging	Het
Cmtr1	C	A	17: 29,904,949 (GRCm39)	T300K	probably damaging	Het
Dennd2d	A	T	3: 106,389,939 (GRCm39)		probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Eif1ad3	A	T	12: 87,843,710 (GRCm39)	D119V	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
Erbb4	T	C	1: 68,079,496 (GRCm39)	T1195A	probably benign	Het
Ermard	T	A	17: 15,273,638 (GRCm39)	S408T	probably benign	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fnbp4	C	T	2: 90,588,821 (GRCm39)	R531*	probably null	Het
Gdf6	A	G	4: 9,844,776 (GRCm39)	Y100C	probably damaging	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Grm8	T	C	6: 27,760,208 (GRCm39)	H374R	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hoxa11	A	T	6: 52,222,504 (GRCm39)	Y66N	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igdcc4	T	A	9: 65,039,047 (GRCm39)	L944Q	probably damaging	Het
Ighv3-1	C	A	12: 113,928,107 (GRCm39)	S84I	probably damaging	Het
Iqgap2	T	C	13: 95,794,375 (GRCm39)	D1199G	probably damaging	Het
Kcnk10	A	T	12: 98,401,205 (GRCm39)	M490K	probably benign	Het
Kirrel1	A	G	3: 86,992,387 (GRCm39)		probably null	Het
Lias	A	T	5: 65,552,768 (GRCm39)	T124S	probably benign	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,808 (GRCm39)	T2206S	unknown	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mis12	A	G	11: 70,916,134 (GRCm39)	T56A	probably benign	Het
Or10ag56	T	A	2: 87,139,208 (GRCm39)	M25K	probably null	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or4k41	A	G	2: 111,279,848 (GRCm39)	D121G	probably damaging	Het
Or5b99	T	C	19: 12,977,235 (GRCm39)	V295A	probably damaging	Het
Otof	A	T	5: 30,576,850 (GRCm39)	L134Q	possibly damaging	Het
Pds5b	T	A	5: 150,717,824 (GRCm39)	V1155E	possibly damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phyhipl	C	T	10: 70,404,903 (GRCm39)	V57I	probably damaging	Het
Plekha5	T	A	6: 140,501,647 (GRCm39)		probably null	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Proser1	A	G	3: 53,385,962 (GRCm39)	T615A	probably damaging	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rassf2	G	A	2: 131,854,522 (GRCm39)	P7S	probably benign	Het
Sart1	A	T	19: 5,432,771 (GRCm39)	L521Q	possibly damaging	Het
Scgb1b21	T	A	7: 33,227,118 (GRCm39)		noncoding transcript	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Secisbp2l	A	G	2: 125,593,785 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,063,522 (GRCm39)	E931G	probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tdrd1	A	G	19: 56,819,505 (GRCm39)	M2V	probably benign	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tram1	A	G	1: 13,636,599 (GRCm39)	V358A	probably benign	Het
Unc13c	C	T	9: 73,643,821 (GRCm39)	W1214*	probably null	Het
Vps13b	T	C	15: 35,455,274 (GRCm39)	C728R	probably damaging	Het
Wwox	A	G	8: 115,166,481 (GRCm39)		probably benign	Het
Zbtb41	G	A	1: 139,357,064 (GRCm39)	V440I	probably benign	Het
Zfp777	T	C	6: 48,002,456 (GRCm39)	S589G	probably benign	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	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
R1782:Hgs	UTSW	11	120,369,331 (GRCm39)	missense	probably damaging	1.00
R2311:Hgs	UTSW	11	120,370,474 (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'- AGGTACAAGGTCCCTTCTAGAC -3'
(R):5'- CTGAAAAGGCTCACCACAGG -3'

Sequencing Primer
(F):5'- GGTCCCTTCTAGACCCAAGAAC -3'
(R):5'- AATACAGGCTGCCAGCTG -3'

Posted On

2015-05-15