Incidental Mutation 'R2311:Hgs'
| ID |
245351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hgs
|
| Ensembl Gene |
ENSMUSG00000116045 |
| Gene Name |
HGF-regulated tyrosine kinase substrate |
| Synonyms |
Hrs, tn |
| MMRRC Submission |
040310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.768)
|
| Stock # |
R2311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120358461-120374805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120370474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 167
(R167W)
|
| 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: R496W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045
AA Change: R496W
| 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 |
probably damaging
Transcript: ENSMUST00000106203
AA Change: R496W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793
AA Change: R496W
| 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: R495W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793
AA Change: R495W
| 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 damaging
Transcript: ENSMUST00000135231
AA Change: R167W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115037
Gene: ENSMUSG00000025793
AA Change: R167W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hrs_helical
|
112 |
172 |
9.6e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140862
|
| SMART Domains |
Protein: ENSMUSP00000119396
Gene: ENSMUSG00000025793
| 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: ENSMUST00000141826
|
| Meta Mutation Damage Score |
0.2328 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
G |
A |
15: 77,602,236 (GRCm39) |
R278H |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,578,111 (GRCm39) |
S946P |
probably benign |
Het |
| Capsl |
A |
T |
15: 9,462,689 (GRCm39) |
R110* |
probably null |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,160,368 (GRCm39) |
I1757N |
possibly damaging |
Het |
| Dthd1 |
T |
C |
5: 62,996,580 (GRCm39) |
|
probably benign |
Het |
| Eif5a2 |
A |
G |
3: 28,836,325 (GRCm39) |
E42G |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,121,639 (GRCm39) |
S61G |
probably benign |
Het |
| Elp4 |
T |
C |
2: 105,672,677 (GRCm39) |
N136S |
probably benign |
Het |
| Elp6 |
A |
G |
9: 110,149,886 (GRCm39) |
S223G |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,503,675 (GRCm39) |
D743E |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,535,194 (GRCm39) |
Q85R |
probably damaging |
Het |
| Fermt3 |
C |
A |
19: 6,991,530 (GRCm39) |
C194F |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,200,260 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
C |
T |
2: 28,500,186 (GRCm39) |
G282R |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,109,927 (GRCm39) |
I444K |
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,797 (GRCm39) |
K153E |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,408,970 (GRCm39) |
M95K |
possibly damaging |
Het |
| Map3k20 |
T |
C |
2: 72,198,784 (GRCm39) |
I130T |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,456,489 (GRCm39) |
Y25N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,335,240 (GRCm39) |
V629I |
probably benign |
Het |
| Nrl |
C |
A |
14: 55,759,909 (GRCm39) |
S6I |
probably damaging |
Het |
| Or10am5 |
A |
T |
7: 6,517,741 (GRCm39) |
M229K |
probably benign |
Het |
| Or4c29 |
T |
A |
2: 88,739,813 (GRCm39) |
D308V |
probably benign |
Het |
| Or5d37 |
T |
C |
2: 87,924,178 (GRCm39) |
N34S |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,211 (GRCm39) |
F377S |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,427,162 (GRCm39) |
S91P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,292,644 (GRCm39) |
Y737F |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,388 (GRCm39) |
I94F |
possibly damaging |
Het |
| Serpine2 |
A |
G |
1: 79,788,265 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,013 (GRCm39) |
R816G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,071,024 (GRCm39) |
N2092D |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,748 (GRCm39) |
V171A |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,533,934 (GRCm39) |
V163M |
probably benign |
Het |
| Trim59 |
G |
T |
3: 68,945,162 (GRCm39) |
C59* |
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vill |
A |
G |
9: 118,894,965 (GRCm39) |
N61S |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,991,834 (GRCm39) |
R662H |
probably damaging |
Het |
| Zfp644 |
A |
C |
5: 106,782,822 (GRCm39) |
V1184G |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,609,866 (GRCm39) |
S620P |
possibly damaging |
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 |
|
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'- AGCTCTGCTCAAGGAGAACAG -3'
(R):5'- TCTGTTGCTCCAGACGCATC -3'
Sequencing Primer
(F):5'- CTGCTCAAGGAGAACAGAGGCC -3'
(R):5'- GGATAGCTAGCTGTCTCTGCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation