Incidental Mutation 'R0100:Hgs'
ID16478
Institutional Source Beutler Lab
Gene Symbol Hgs
Ensembl Gene ENSMUSG00000116045
Gene Name
SynonymsHrs
MMRRC Submission 038386-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #R0100 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location120467635-120483984 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 120482852 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 708 (Y708D)
Ref Sequence ENSEMBL: ENSMUSP00000026900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026900] [ENSMUST00000043627] [ENSMUST00000106203] [ENSMUST00000106205]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026900
AA Change: Y708D

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045
AA Change: Y708D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: V707G
SMART Domains Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793
AA Change: V707G

DomainStartEndE-ValueType
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: V706G
SMART Domains Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793
AA Change: V706G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.1157 question?
Coding Region Coverage
  • 1x: 90.3%
  • 3x: 88.1%
  • 10x: 82.7%
  • 20x: 75.2%
Validation Efficiency 89% (68/76)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A G 7: 34,254,011 I442T possibly damaging Het
Agrn A G 4: 156,174,958 C814R probably damaging Het
Aoc1 T C 6: 48,908,604 I681T possibly damaging Het
Atp13a4 T C 16: 29,421,724 H793R probably damaging Het
Atp6v0a4 T C 6: 38,076,815 I351V probably benign Het
Bbof1 T A 12: 84,411,055 D31E probably benign Het
Cpxm2 T A 7: 132,054,871 H554L possibly damaging Het
Ddx55 C T 5: 124,556,782 T91I probably damaging Het
Dhx57 T C 17: 80,275,156 D340G possibly damaging Het
Dnah1 C T 14: 31,262,152 probably null Het
Dpp9 C T 17: 56,205,854 G118D possibly damaging Het
Etl4 T C 2: 20,339,905 S4P probably benign Het
Fat4 A C 3: 38,980,248 N2683T probably damaging Het
Gabrb2 A G 11: 42,487,314 D119G probably damaging Het
Greb1 T A 12: 16,680,224 Q1734L probably benign Het
Gtf2ird2 T C 5: 134,217,015 L705P probably damaging Het
H13 T A 2: 152,689,863 probably null Het
Hip1 T C 5: 135,436,453 D367G probably benign Het
Ift140 C T 17: 25,090,954 Q1112* probably null Het
Il17b A G 18: 61,690,271 M59V probably benign Het
Lpin3 T C 2: 160,905,340 Y829H probably damaging Het
Lrrk2 A T 15: 91,745,796 N1230I probably damaging Het
Mindy2 C A 9: 70,607,449 probably benign Het
Nup210 T G 6: 91,069,193 E586A probably benign Het
Olfr1105 T C 2: 87,033,595 T209A probably benign Het
Olfr1344 C T 7: 6,440,400 R167C probably damaging Het
Olfr346 A T 2: 36,688,911 N303I probably benign Het
Osgepl1 A G 1: 53,323,213 I405V probably damaging Het
Pdcd11 T C 19: 47,102,666 S360P probably benign Het
Plekha6 T C 1: 133,270,177 S271P probably damaging Het
Plekhs1 A G 19: 56,478,502 E255G probably damaging Het
Pram1 T A 17: 33,641,399 N313K possibly damaging Het
Rapgef5 C T 12: 117,721,299 S261L probably benign Het
Spint5 T A 2: 164,717,000 C49S probably damaging Het
Tex22 T A 12: 113,088,772 I150N probably benign Het
Thoc6 A T 17: 23,669,850 W195R probably damaging Het
Tmem106a T C 11: 101,586,258 S98P probably benign Het
Tnfrsf18 A G 4: 156,028,366 T170A probably benign Het
Tor1aip1 A T 1: 156,007,075 D342E probably damaging Het
Trav7-6 T C 14: 53,717,072 S20P probably damaging Het
Trpc6 C T 9: 8,653,034 P614S probably damaging Het
Washc5 A G 15: 59,344,098 F811L possibly damaging Het
Other mutations in Hgs
AlleleSourceChrCoordTypePredicted EffectPPH 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 unclassified 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
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
R7807:Hgs UTSW 11 120479934 missense probably damaging 1.00
X0024:Hgs UTSW 11 120477314 missense probably damaging 1.00
Z1177:Hgs UTSW 11 120478565 missense probably benign
Posted On2013-01-20