Mutagenetix > Incidental Mutation

Incidental Mutation 'R8910:Hgs'

678572

Institutional Source

Beutler Lab

Gene Symbol

Hgs

Ensembl Gene

ENSMUSG00000116045

Gene Name

HGF-regulated tyrosine kinase substrate

Synonyms

Hrs, tn

MMRRC Submission

068701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R8910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120358461-120374805 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 120369202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
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 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

Meta Mutation Damage Score

0.9661

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,768 (GRCm39)	I1058V	probably benign	Het
Abca5	T	C	11: 110,189,030 (GRCm39)	E809G	probably damaging	Het
Akap12	A	T	10: 4,263,822 (GRCm39)	Q77L	probably benign	Het
Aldh5a1	A	G	13: 25,102,599 (GRCm39)	V288A	probably damaging	Het
Alox5	C	A	6: 116,389,510 (GRCm39)	E586*	probably null	Het
Anxa2r1	T	A	13: 120,508,356 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,934,108 (GRCm39)	F598S		Het
Btc	A	C	5: 91,508,671 (GRCm39)	M157R	probably benign	Het
Cadps2	T	C	6: 23,344,223 (GRCm39)	N908S	probably benign	Het
Cd244a	C	A	1: 171,386,941 (GRCm39)	H17N	probably damaging	Het
Cdh15	T	C	8: 123,575,240 (GRCm39)	L5P	probably benign	Het
Cep15	A	G	14: 12,285,444 (GRCm38)	H10R	probably benign	Het
Cept1	A	C	3: 106,446,565 (GRCm39)	S94A	probably benign	Het
Cntn4	T	C	6: 106,632,497 (GRCm39)	M507T	probably benign	Het
Cpne4	A	G	9: 104,799,706 (GRCm39)		probably benign	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dlgap1	C	T	17: 71,093,815 (GRCm39)	T712I	probably damaging	Het
Dnhd1	A	C	7: 105,332,904 (GRCm39)	H155P	possibly damaging	Het
Dpyd	A	G	3: 118,404,167 (GRCm39)	K38R	probably benign	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Ezr	A	G	17: 7,023,299 (GRCm39)	L47P	probably damaging	Het
Fabp6	C	T	11: 43,492,335 (GRCm39)	A2T	possibly damaging	Het
Fam78a	G	A	2: 31,959,681 (GRCm39)	T143M	probably damaging	Het
Fam83h	C	T	15: 75,874,844 (GRCm39)	G831D	probably benign	Het
Fermt2	G	A	14: 45,702,389 (GRCm39)	A465V	probably damaging	Het
Fras1	T	C	5: 96,715,855 (GRCm39)	S358P	probably benign	Het
Frem1	C	A	4: 82,868,694 (GRCm39)	G1429V	probably benign	Het
Fst	T	A	13: 114,590,245 (GRCm39)		probably benign	Het
Gfpt1	T	C	6: 87,030,787 (GRCm39)	I57T	probably benign	Het
Gimap6	A	G	6: 48,679,388 (GRCm39)	I216T	probably damaging	Het
Gm10267	T	A	18: 44,289,511 (GRCm39)	N73I	possibly damaging	Het
H2-M2	G	A	17: 37,792,413 (GRCm39)	T286I	probably damaging	Het
Klra6	T	C	6: 129,993,647 (GRCm39)	E208G	probably benign	Het
L3mbtl1	A	T	2: 162,812,213 (GRCm39)	T753S	probably benign	Het
Larp6	A	G	9: 60,620,526 (GRCm39)	E13G	probably benign	Het
Mroh2b	A	G	15: 4,960,855 (GRCm39)	I806V	probably benign	Het
Myo1g	T	C	11: 6,468,009 (GRCm39)	N142S	possibly damaging	Het
Myo3a	A	G	2: 22,464,280 (GRCm39)	T1112A	probably benign	Het
Or4b1b	C	A	2: 90,126,848 (GRCm39)	R119L	possibly damaging	Het
Pelp1	A	T	11: 70,287,461 (GRCm39)	M449K	probably damaging	Het
Ppp4r1	T	C	17: 66,144,768 (GRCm39)	V795A	probably damaging	Het
Ppp4r3b	G	T	11: 29,146,290 (GRCm39)	M372I	probably null	Het
Ptprk	T	C	10: 28,368,993 (GRCm39)	V655A	possibly damaging	Het
Rad51d	T	C	11: 82,773,793 (GRCm39)	R166G	probably damaging	Het
Rbm19	T	A	5: 120,271,844 (GRCm39)	Y650N	probably damaging	Het
Rreb1	A	G	13: 38,132,741 (GRCm39)	K204E		Het
Ryr1	A	G	7: 28,771,340 (GRCm39)	L2567P	probably damaging	Het
Scn3a	T	A	2: 65,338,883 (GRCm39)	S599C	probably damaging	Het
Slc7a15	T	A	12: 8,589,117 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,182,716 (GRCm39)	T12A	probably benign	Het
Tbc1d10b	T	C	7: 126,806,938 (GRCm39)	T200A	probably benign	Het
Tex21	C	T	12: 76,263,533 (GRCm39)		probably benign	Het
Thap4	T	C	1: 93,642,666 (GRCm39)	H515R	probably damaging	Het
Tmem94	A	G	11: 115,688,252 (GRCm39)	Q1237R	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Unc5a	A	G	13: 55,151,401 (GRCm39)	E695G	possibly damaging	Het
Wtip	G	A	7: 33,832,063 (GRCm39)	P141L	possibly damaging	Het
Wwp1	A	T	4: 19,627,741 (GRCm39)	M718K	possibly damaging	Het
Zbtb25	A	C	12: 76,395,908 (GRCm39)	V438G	probably damaging	Het
Zfp444	T	C	7: 6,187,026 (GRCm39)	L46P	probably damaging	Het
Zfp521	T	C	18: 13,977,233 (GRCm39)	H1060R	probably benign	Het
Zkscan14	A	G	5: 145,132,190 (GRCm39)	F447S	probably damaging	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
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
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'- TTGGCTAGCCCTGAGATCTG -3'
(R):5'- AAAGGAGCCTCTCACCTCTG -3'

Sequencing Primer
(F):5'- AGCCCTGAGATCTGCTGTC -3'
(R):5'- ATGTCCTTCTCCAGGCTGGG -3'

Posted On

2021-08-02