Incidental Mutation 'R0653:Hgs'
ID 62399
Institutional Source Beutler Lab
Gene Symbol Hgs
Ensembl Gene ENSMUSG00000116045
Gene Name HGF-regulated tyrosine kinase substrate
Synonyms Hrs, tn
MMRRC Submission 038838-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.800) question?
Stock # R0653 (G1)
Quality Score 152
Status Not validated
Chromosome 11
Chromosomal Location 120358461-120374805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120359904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 36 (R36H)
Ref Sequence ENSEMBL: ENSMUSP00000119396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026900] [ENSMUST00000058370] [ENSMUST00000076921] [ENSMUST00000106203] [ENSMUST00000106205] [ENSMUST00000140862]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026900
AA Change: R36H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045
AA Change: R36H

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: ENSMUST00000058370
SMART Domains Protein: ENSMUSP00000062540
Gene: ENSMUSG00000049957

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
coiled coil region 160 189 N/A INTRINSIC
low complexity region 219 245 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076921
SMART Domains Protein: ENSMUSP00000076188
Gene: ENSMUSG00000057594

DomainStartEndE-ValueType
Pfam:Arf 1 169 1.4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106203
AA Change: R36H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793
AA Change: R36H

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 probably damaging
Transcript: ENSMUST00000106205
AA Change: R36H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793
AA Change: R36H

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 noncoding transcript
Transcript: ENSMUST00000122973
Predicted Effect probably damaging
Transcript: ENSMUST00000140862
AA Change: R36H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119396
Gene: ENSMUSG00000025793
AA Change: R36H

DomainStartEndE-ValueType
VHS 8 123 1.29e-48 SMART
FYVE 139 205 1.81e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152641
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,371 (GRCm39) R612* probably null Het
Adgra1 A G 7: 139,456,063 (GRCm39) T564A probably damaging Het
Akr1c18 A T 13: 4,195,307 (GRCm39) D50E probably damaging Het
Atg9a C A 1: 75,166,972 (GRCm39) L26F probably damaging Het
Atp11b A G 3: 35,893,343 (GRCm39) T899A probably damaging Het
Atxn2 A G 5: 121,910,841 (GRCm39) E358G probably damaging Het
Bmp3 A G 5: 99,019,970 (GRCm39) Y131C probably damaging Het
Brip1 T C 11: 86,043,484 (GRCm39) E360G possibly damaging Het
Casd1 A T 6: 4,608,075 (GRCm39) I76L probably benign Het
Casq2 G A 3: 102,020,482 (GRCm39) probably null Het
Ccdc185 T A 1: 182,575,129 (GRCm39) Q520L possibly damaging Het
Cenpf T C 1: 189,392,183 (GRCm39) K550E probably damaging Het
Ciz1 T C 2: 32,262,418 (GRCm39) S521P probably damaging Het
Clstn2 A T 9: 97,340,257 (GRCm39) V705E probably damaging Het
Dagla A G 19: 10,225,789 (GRCm39) Y792H probably damaging Het
Dgke A T 11: 88,950,995 (GRCm39) C73S probably benign Het
Egflam A G 15: 7,279,509 (GRCm39) probably null Het
Farp1 T C 14: 121,471,258 (GRCm39) probably null Het
Fos A G 12: 85,522,790 (GRCm39) E234G probably benign Het
Gtf3c5 A T 2: 28,468,008 (GRCm39) M151K probably benign Het
Lats2 G A 14: 57,937,653 (GRCm39) Q279* probably null Het
Lysmd4 T A 7: 66,875,788 (GRCm39) D150E probably benign Het
Mex3b A G 7: 82,518,242 (GRCm39) K186E probably damaging Het
Myo9a A C 9: 59,832,274 (GRCm39) Q2601P probably damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nr5a2 A G 1: 136,876,543 (GRCm39) V40A probably benign Het
Obscn C A 11: 58,898,534 (GRCm39) probably benign Het
Or2y1d C A 11: 49,322,078 (GRCm39) Y258* probably null Het
Or4c114 A G 2: 88,904,808 (GRCm39) I209T possibly damaging Het
Or8g4 A G 9: 39,661,934 (GRCm39) N84S probably benign Het
Pclo T A 5: 14,732,269 (GRCm39) probably benign Het
Reln T C 5: 22,118,228 (GRCm39) I2939V probably benign Het
Rtn4 A T 11: 29,657,256 (GRCm39) K470I probably damaging Het
Sbno1 A G 5: 124,524,955 (GRCm39) I1050T possibly damaging Het
Scaf11 G T 15: 96,316,522 (GRCm39) S17* probably null Het
Scn9a A T 2: 66,363,721 (GRCm39) N841K probably damaging Het
Slc35e3 C A 10: 117,576,711 (GRCm39) E207* probably null Het
Slc6a20b A G 9: 123,426,377 (GRCm39) F503L probably damaging Het
Spag16 G T 1: 69,909,504 (GRCm39) K200N probably damaging Het
Supt6 G T 11: 78,116,841 (GRCm39) Q604K probably benign Het
Taok1 A G 11: 77,469,550 (GRCm39) probably null Het
Tjp1 A T 7: 64,964,503 (GRCm39) H889Q probably damaging Het
Tmed6 A T 8: 107,792,283 (GRCm39) probably null Het
Tsen54 A T 11: 115,705,887 (GRCm39) E68V probably damaging Het
Ttn A G 2: 76,559,878 (GRCm39) S21181P probably damaging Het
Ube3d A T 9: 86,334,043 (GRCm39) M33K possibly damaging Het
Umodl1 C A 17: 31,203,002 (GRCm39) Q452K probably benign Het
Wif1 G T 10: 120,935,704 (GRCm39) A354S probably benign Het
Wnk2 A G 13: 49,210,492 (GRCm39) F1788L possibly damaging Het
Zfhx3 A T 8: 109,673,440 (GRCm39) I1497F possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp30 G A 7: 29,492,178 (GRCm39) R225Q probably damaging Het
Zfp87 T C 13: 74,520,190 (GRCm39) E296G probably damaging Het
Zfp874b A G 13: 67,623,052 (GRCm39) F86S possibly damaging Het
Zfyve19 A G 2: 119,041,696 (GRCm39) S88G probably benign Het
Other mutations in Hgs
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCAAGCTGTGACAAAGGGCATTC -3'
(R):5'- TTAGCCTGACAGACCTCCTCAAGG -3'

Sequencing Primer
(F):5'- CTGTGACAAAGGGCATTCTCTAC -3'
(R):5'- CTCCTCAAGGAAATATCAGTGAGTC -3'
Posted On 2013-07-30