Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Hgs'

316708

Institutional Source

Beutler Lab

Gene Symbol

Hgs

Ensembl Gene

ENSMUSG00000116045

Gene Name

HGF-regulated tyrosine kinase substrate

Synonyms

Hrs, tn

MMRRC Submission

041623-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R4078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120358461-120374805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120373874 bp (GRCm39)

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: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,359 (GRCm39)	L367*	probably null	Het
Agfg1	T	A	1: 82,860,008 (GRCm39)	S312T	possibly damaging	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Ambp	T	A	4: 63,068,680 (GRCm39)	K112N	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Asah1	A	G	8: 41,807,119 (GRCm39)	S102P	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cabs1	G	A	5: 88,128,161 (GRCm39)	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731 (GRCm39)	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdh4	A	G	2: 179,530,966 (GRCm39)	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,540,128 (GRCm39)	D975G	probably damaging	Het
Col27a1	G	T	4: 63,142,669 (GRCm39)	R119L	probably damaging	Het
Col7a1	A	G	9: 108,790,059 (GRCm39)	N918S	unknown	Het
Colec11	T	C	12: 28,645,246 (GRCm39)	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,665,852 (GRCm39)	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,372,517 (GRCm39)	G366V	probably damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Emsy	G	A	7: 98,239,932 (GRCm39)	P1108S	probably damaging	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,604,954 (GRCm39)	G439S	probably benign	Het
Fat1	C	T	8: 45,442,159 (GRCm39)	P1154S	probably damaging	Het
Fat4	G	A	3: 39,034,169 (GRCm39)	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,522,948 (GRCm39)	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Gm38706	G	T	6: 130,460,700 (GRCm39)		noncoding transcript	Het
Gm9758	T	A	5: 14,961,536 (GRCm39)		probably null	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Heatr9	C	A	11: 83,403,254 (GRCm39)	K428N	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kcnn3	A	G	3: 89,568,495 (GRCm39)	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,558,895 (GRCm39)		probably benign	Het
Lpp	G	A	16: 24,500,611 (GRCm39)	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mipep	T	A	14: 61,083,926 (GRCm39)	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,657,889 (GRCm39)	C547F	possibly damaging	Het
Nek3	A	T	8: 22,622,153 (GRCm39)	W363R	probably damaging	Het
Nphs1	T	A	7: 30,166,945 (GRCm39)	Y717*	probably null	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Optc	T	C	1: 133,826,087 (GRCm39)	H270R	probably damaging	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or2l5	T	A	16: 19,333,982 (GRCm39)	M135L	possibly damaging	Het
Or5p80	T	A	7: 108,230,114 (GRCm39)	M305K	probably benign	Het
Or9r7	G	A	10: 129,962,587 (GRCm39)	T113I	probably damaging	Het
Pik3c2g	A	G	6: 139,612,608 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,306,948 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,142,683 (GRCm39)	I312F	probably benign	Het
Prkg1	T	C	19: 31,562,978 (GRCm39)	Y156C	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Slc22a28	T	A	19: 8,078,777 (GRCm39)	H304L	probably benign	Het
Stox1	C	T	10: 62,501,810 (GRCm39)	C250Y	probably benign	Het
Sult2a3	A	G	7: 13,855,662 (GRCm39)	W65R	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Syne2	C	A	12: 76,082,398 (GRCm39)	T4857K	probably damaging	Het
Tcp1	T	C	17: 13,136,970 (GRCm39)	L64S	probably benign	Het
Thap11	G	T	8: 106,582,548 (GRCm39)	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633 (GRCm39)		probably null	Het
Trappc10	T	C	10: 78,046,216 (GRCm39)	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,644,528 (GRCm39)	Y197C	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,985,674 (GRCm39)	T245A	probably damaging	Het
Washc1	A	T	17: 66,424,156 (GRCm39)	E289D	probably benign	Het
Zc3h7a	A	T	16: 10,969,011 (GRCm39)	V450E	probably benign	Het
Zcchc17	T	G	4: 130,223,418 (GRCm39)	I123L	possibly damaging	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
R4077:Hgs	UTSW	11	120,368,202 (GRCm39)	missense	probably damaging	1.00
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'- TACCAGCCGTACAATATGCAGG -3'
(R):5'- GCAATATGGACGCATGTGTAC -3'

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

Posted On

2015-05-15