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)
|
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
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: ENSMUST00000058370
|
SMART Domains |
Protein: ENSMUSP00000062540 Gene: ENSMUSG00000049957
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
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 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
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 |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |