Incidental Mutation 'R7807:Hgs'
ID 600882
Institutional Source Beutler Lab
Gene Symbol Hgs
Ensembl Gene ENSMUSG00000116045
Gene Name HGF-regulated tyrosine kinase substrate
Synonyms Hrs, tn
MMRRC Submission 045862-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.800) question?
Stock # R7807 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120358461-120374805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 120370760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 567 (A567S)
Ref Sequence ENSEMBL: ENSMUSP00000026900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026900] [ENSMUST00000043627] [ENSMUST00000106203] [ENSMUST00000106205] [ENSMUST00000140862]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026900
AA Change: A567S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045
AA Change: A567S

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 probably damaging
Transcript: ENSMUST00000106203
AA Change: A567S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793
AA Change: A567S

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 benign
Transcript: ENSMUST00000106205
AA Change: A566S

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793
AA Change: A566S

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
SMART Domains Protein: ENSMUSP00000115037
Gene: ENSMUSG00000025793
AA Change: A238S

DomainStartEndE-ValueType
Pfam:Hrs_helical 112 172 9.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140862
SMART Domains Protein: ENSMUSP00000119396
Gene: ENSMUSG00000025793

DomainStartEndE-ValueType
VHS 8 123 1.29e-48 SMART
FYVE 139 205 1.81e-31 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C A 9: 21,447,276 (GRCm39) T146K probably benign Het
Alms1 T A 6: 85,599,958 (GRCm39) S1595T possibly damaging Het
Ankrd44 A T 1: 54,831,635 (GRCm39) I56N probably damaging Het
Anln C A 9: 22,272,176 (GRCm39) V648F probably damaging Het
Arhgap29 A G 3: 121,807,981 (GRCm39) D1053G probably benign Het
Baalc T C 15: 38,797,412 (GRCm39) S68P probably benign Het
Begain T C 12: 109,004,856 (GRCm39) D52G probably damaging Het
Blmh A G 11: 76,837,040 (GRCm39) I41V probably benign Het
Bpifc T A 10: 85,812,114 (GRCm39) I365F possibly damaging Het
C2 G T 17: 35,095,347 (GRCm39) S199R possibly damaging Het
Ccbe1 T A 18: 66,199,828 (GRCm39) H298L probably damaging Het
Ccdc112 T A 18: 46,423,826 (GRCm39) K304I probably damaging Het
Ccdc15 T C 9: 37,226,678 (GRCm39) E432G probably benign Het
Cdh13 T A 8: 119,010,594 (GRCm39) M1K probably null Het
Cipc T C 12: 87,008,899 (GRCm39) S253P possibly damaging Het
Clcn1 A G 6: 42,287,282 (GRCm39) probably null Het
Clock A T 5: 76,390,982 (GRCm39) N273K probably benign Het
Cyp19a1 T C 9: 54,074,126 (GRCm39) D476G probably benign Het
Dnaaf9 T C 2: 130,552,785 (GRCm39) K1092E probably damaging Het
Dnah7b A G 1: 46,253,527 (GRCm39) I1811V probably benign Het
Fat1 C A 8: 45,495,010 (GRCm39) T4091K probably damaging Het
Gm10340 T A 14: 14,826,724 (GRCm39) N64K probably damaging Het
Hectd1 G A 12: 51,792,171 (GRCm39) R2523C probably damaging Het
Hgf A G 5: 16,782,009 (GRCm39) H244R probably damaging Het
Igdcc4 T C 9: 65,041,077 (GRCm39) V1036A probably benign Het
Keg1 G A 19: 12,691,998 (GRCm39) probably null Het
Klhl8 A T 5: 104,023,932 (GRCm39) L156Q probably damaging Het
Lmln T C 16: 32,927,501 (GRCm39) Y521H probably benign Het
Lrrc7 A G 3: 157,866,124 (GRCm39) S1206P probably damaging Het
Mad1l1 T A 5: 140,074,541 (GRCm39) I550F probably benign Het
Marf1 C T 16: 13,971,753 (GRCm39) W28* probably null Het
Mfsd11 T G 11: 116,754,733 (GRCm39) S215A probably benign Het
Mpped2 C A 2: 106,575,085 (GRCm39) H57N possibly damaging Het
Mslnl A G 17: 25,965,751 (GRCm39) M542V probably benign Het
Myh6 G T 14: 55,179,897 (GRCm39) H1903Q probably damaging Het
Neo1 T C 9: 58,897,777 (GRCm39) T60A probably benign Het
Npm2 T A 14: 70,889,947 (GRCm39) probably null Het
Or5b123 C A 19: 13,597,285 (GRCm39) T210K probably damaging Het
Or5d20-ps1 T C 2: 87,931,909 (GRCm39) S141G probably benign Het
Or7a39 T A 10: 78,715,043 (GRCm39) S12R probably benign Het
Pax9 A T 12: 56,743,850 (GRCm39) I166F possibly damaging Het
Pcsk9 A G 4: 106,321,092 (GRCm39) S6P possibly damaging Het
Pikfyve A G 1: 65,309,101 (GRCm39) Y1893C probably damaging Het
Pirb T C 7: 3,722,864 (GRCm39) T43A possibly damaging Het
Pou3f1 A G 4: 124,552,074 (GRCm39) D192G possibly damaging Het
Pus3 C G 9: 35,478,021 (GRCm39) R418G probably damaging Het
Rexo1 C T 10: 80,385,970 (GRCm39) V363I probably benign Het
Sdcbp A G 4: 6,393,688 (GRCm39) T269A probably damaging Het
Sele T C 1: 163,881,462 (GRCm39) V523A probably benign Het
Serpinb8 T A 1: 107,532,457 (GRCm39) M183K probably damaging Het
Sh2d4a T G 8: 68,735,033 (GRCm39) S51A probably benign Het
Siglec15 A G 18: 78,090,696 (GRCm39) S201P probably damaging Het
Slc10a5 C T 3: 10,400,529 (GRCm39) V44I probably benign Het
Slc16a13 A G 11: 70,111,388 (GRCm39) V39A probably damaging Het
Slc25a13 G A 6: 6,117,164 (GRCm39) R184W probably damaging Het
Slc35f5 T A 1: 125,512,278 (GRCm39) D359E probably damaging Het
Slc3a1 A G 17: 85,371,371 (GRCm39) E641G probably benign Het
Slf1 T C 13: 77,194,823 (GRCm39) D834G probably damaging Het
Spata31f1e A C 4: 42,793,885 (GRCm39) H82Q probably benign Het
Stim1 T C 7: 102,076,348 (GRCm39) I433T probably damaging Het
Stra6 T A 9: 58,057,444 (GRCm39) I418K probably damaging Het
Tanc2 A G 11: 105,758,480 (GRCm39) N747S probably benign Het
Tet2 T C 3: 133,192,302 (GRCm39) T711A possibly damaging Het
Trpm6 T C 19: 18,807,220 (GRCm39) I988T probably benign Het
Ttc41 T A 10: 86,612,495 (GRCm39) I1256N probably benign Het
Uba2 T C 7: 33,862,638 (GRCm39) D100G possibly damaging Het
Vmn1r43 A G 6: 89,847,219 (GRCm39) I89T probably benign Het
Vmn2r58 T A 7: 41,521,910 (GRCm39) Y62F probably benign Het
Ylpm1 C T 12: 85,060,855 (GRCm39) Q428* probably null Het
Zcrb1 T C 15: 93,289,002 (GRCm39) D88G probably damaging Het
Zmym1 A C 4: 126,941,667 (GRCm39) I907S probably damaging 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
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
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'- TGGCACAGAAACTGGAGATC -3'
(R):5'- ATACACACCATGCATCGGAGAG -3'

Sequencing Primer
(F):5'- AGGTATGGCAGCTGACCCAG -3'
(R):5'- ATCGGAGAGCCCTCTACTGAG -3'
Posted On 2019-11-26