Incidental Mutation 'R5047:Mst1'
| ID |
394417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mst1
|
| Ensembl Gene |
ENSMUSG00000032591 |
| Gene Name |
macrophage stimulating 1 (hepatocyte growth factor-like) |
| Synonyms |
D3F15S2h, D9H3F15S2, DNF15S2h, Hgfl |
| MMRRC Submission |
042637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5047 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107957635-107962202 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107961508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 579
(H579Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035211]
[ENSMUST00000159372]
[ENSMUST00000160249]
[ENSMUST00000160649]
[ENSMUST00000162886]
[ENSMUST00000193254]
[ENSMUST00000178267]
|
| AlphaFold |
P26928 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035211
AA Change: H588Q
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: H588Q
| Domain | Start | End | E-Value | Type |
|---|
|
PAN_AP
|
21 |
104 |
2.65e-9 |
SMART |
|
KR
|
108 |
188 |
3.13e-39 |
SMART |
|
KR
|
189 |
270 |
8.57e-46 |
SMART |
|
KR
|
290 |
372 |
7.94e-41 |
SMART |
|
KR
|
377 |
459 |
6.59e-47 |
SMART |
|
Tryp_SPc
|
488 |
709 |
2.27e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081309
|
| SMART Domains |
Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DLH
|
485 |
721 |
2e-8 |
PFAM |
|
Pfam:Abhydrolase_1
|
501 |
633 |
3.8e-9 |
PFAM |
|
Pfam:Abhydrolase_5
|
501 |
708 |
5e-16 |
PFAM |
|
Pfam:Peptidase_S9
|
516 |
732 |
1.6e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159136
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160184
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160249
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1245 |
N/A |
INTRINSIC |
|
RING
|
1254 |
1291 |
5.27e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160649
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161253
AA Change: H1Q
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162886
AA Change: H579Q
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: H579Q
| Domain | Start | End | E-Value | Type |
|---|
|
PAN_AP
|
21 |
104 |
2.65e-9 |
SMART |
|
KR
|
108 |
188 |
3.13e-39 |
SMART |
|
KR
|
189 |
270 |
1.07e-46 |
SMART |
|
KR
|
281 |
363 |
7.94e-41 |
SMART |
|
KR
|
368 |
450 |
6.59e-47 |
SMART |
|
Tryp_SPc
|
479 |
700 |
2.27e-55 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192916
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193254
|
| SMART Domains |
Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DLH
|
485 |
721 |
4.8e-8 |
PFAM |
|
Pfam:Abhydrolase_5
|
501 |
708 |
5.7e-16 |
PFAM |
|
Pfam:Abhydrolase_6
|
503 |
714 |
6.2e-14 |
PFAM |
|
Pfam:Peptidase_S9
|
515 |
732 |
1.4e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178267
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1245 |
N/A |
INTRINSIC |
|
RING
|
1254 |
1291 |
5.27e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the encoded protein may not have any proteolytic activity. The receptor for this protein is RON tyrosine kinase, which upon activation stimulates ciliary motility of ciliated epithelial lung cells. This protein is secreted and cleaved to form an alpha chain and a beta chain bridged by disulfide bonds. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lipid-filled cytoplasmic vacuoles in hepatocytes throughout the liver lobules. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
T |
14: 44,406,698 (GRCm39) |
M117K |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,886,922 (GRCm39) |
A1020T |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,007,895 (GRCm39) |
A526D |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 44,998,595 (GRCm39) |
D132E |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,134,037 (GRCm39) |
M4T |
possibly damaging |
Het |
| Cdon |
G |
A |
9: 35,389,935 (GRCm39) |
R863Q |
probably damaging |
Het |
| Cyp2d40 |
C |
T |
15: 82,644,460 (GRCm39) |
R255H |
unknown |
Het |
| Evi5 |
T |
C |
5: 107,969,740 (GRCm39) |
K57R |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,567 (GRCm39) |
E253G |
probably damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,193,200 (GRCm39) |
F266I |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
G |
T |
10: 77,551,996 (GRCm39) |
C119F |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,008,202 (GRCm39) |
S309G |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Jmy |
T |
A |
13: 93,578,080 (GRCm39) |
H696L |
possibly damaging |
Het |
| Kif13a |
T |
C |
13: 46,941,561 (GRCm39) |
H972R |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,050,276 (GRCm39) |
Q296* |
probably null |
Het |
| Lmf1 |
C |
T |
17: 25,850,812 (GRCm39) |
|
probably benign |
Het |
| Lpp |
T |
C |
16: 24,790,596 (GRCm39) |
C352R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,881 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
T |
3: 51,598,262 (GRCm39) |
D807E |
possibly damaging |
Het |
| Mdc1 |
T |
A |
17: 36,158,736 (GRCm39) |
V372D |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,696 (GRCm39) |
F240S |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,204 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,057 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,585 (GRCm39) |
V76I |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,251 (GRCm39) |
H472L |
probably benign |
Het |
| Plscr3 |
A |
G |
11: 69,740,917 (GRCm39) |
|
probably null |
Het |
| Rab7 |
A |
T |
6: 87,982,205 (GRCm39) |
|
probably null |
Het |
| Rad50 |
A |
G |
11: 53,565,523 (GRCm39) |
|
probably null |
Het |
| Scgb1b20 |
A |
G |
7: 33,072,737 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
C |
2: 66,392,824 (GRCm39) |
L256R |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,195,588 (GRCm39) |
Q260H |
probably damaging |
Het |
| Tatdn3 |
T |
A |
1: 190,778,475 (GRCm39) |
I239F |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,986 (GRCm39) |
S578P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,709,282 (GRCm39) |
T657A |
probably benign |
Het |
| Tstd3 |
A |
G |
4: 21,759,621 (GRCm39) |
|
probably null |
Het |
| Ttc4 |
A |
T |
4: 106,525,435 (GRCm39) |
L233H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,794 (GRCm39) |
M158K |
probably benign |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,843 (GRCm39) |
C331* |
probably null |
Het |
|
| Other mutations in Mst1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Mst1
|
APN |
9 |
107,958,800 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01380:Mst1
|
APN |
9 |
107,961,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01420:Mst1
|
APN |
9 |
107,960,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02931:Mst1
|
APN |
9 |
107,961,841 (GRCm39) |
splice site |
probably null |
|
|
IGL03059:Mst1
|
APN |
9 |
107,962,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03275:Mst1
|
APN |
9 |
107,961,587 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0319:Mst1
|
UTSW |
9 |
107,959,712 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0361:Mst1
|
UTSW |
9 |
107,962,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0412:Mst1
|
UTSW |
9 |
107,960,793 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0569:Mst1
|
UTSW |
9 |
107,959,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1432:Mst1
|
UTSW |
9 |
107,961,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1483:Mst1
|
UTSW |
9 |
107,958,849 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1859:Mst1
|
UTSW |
9 |
107,961,545 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2187:Mst1
|
UTSW |
9 |
107,961,539 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2393:Mst1
|
UTSW |
9 |
107,960,151 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3522:Mst1
|
UTSW |
9 |
107,958,702 (GRCm39) |
unclassified |
probably benign |
|
|
R3916:Mst1
|
UTSW |
9 |
107,961,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3917:Mst1
|
UTSW |
9 |
107,961,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3945:Mst1
|
UTSW |
9 |
107,962,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4006:Mst1
|
UTSW |
9 |
107,960,147 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4007:Mst1
|
UTSW |
9 |
107,960,147 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4737:Mst1
|
UTSW |
9 |
107,957,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4756:Mst1
|
UTSW |
9 |
107,960,826 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5113:Mst1
|
UTSW |
9 |
107,959,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Mst1
|
UTSW |
9 |
107,959,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5279:Mst1
|
UTSW |
9 |
107,959,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5402:Mst1
|
UTSW |
9 |
107,961,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5677:Mst1
|
UTSW |
9 |
107,958,485 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5712:Mst1
|
UTSW |
9 |
107,960,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6717:Mst1
|
UTSW |
9 |
107,957,774 (GRCm39) |
splice site |
probably null |
|
|
R7059:Mst1
|
UTSW |
9 |
107,961,263 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7131:Mst1
|
UTSW |
9 |
107,962,130 (GRCm39) |
missense |
probably null |
0.07 |
|
R7139:Mst1
|
UTSW |
9 |
107,960,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7219:Mst1
|
UTSW |
9 |
107,958,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7501:Mst1
|
UTSW |
9 |
107,959,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7878:Mst1
|
UTSW |
9 |
107,961,812 (GRCm39) |
missense |
probably benign |
|
|
R8304:Mst1
|
UTSW |
9 |
107,958,803 (GRCm39) |
missense |
probably benign |
|
|
R8397:Mst1
|
UTSW |
9 |
107,958,698 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8715:Mst1
|
UTSW |
9 |
107,959,242 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9574:Mst1
|
UTSW |
9 |
107,962,053 (GRCm39) |
nonsense |
probably null |
|
|
R9732:Mst1
|
UTSW |
9 |
107,959,425 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0028:Mst1
|
UTSW |
9 |
107,959,416 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGGGTACAATTAACCAGAACCC -3'
(R):5'- ATCGAGGCCACATGAAGGAC -3'
Sequencing Primer
(F):5'- GAACCCACAGCCTGGAGAG -3'
(R):5'- CCACATGAAGGACTGTGTTATTGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation