Incidental Mutation 'R6237:Mbtps1'
| ID |
505000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbtps1
|
| Ensembl Gene |
ENSMUSG00000031835 |
| Gene Name |
membrane-bound transcription factor peptidase, site 1 |
| Synonyms |
site-1 protease, SKI-1, subtilisin/kexin isozyme-1, S1P, 0610038M03Rik |
| MMRRC Submission |
044362-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6237 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120234895-120285474 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120255700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 519
(L519P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081381]
[ENSMUST00000098362]
|
| AlphaFold |
Q9WTZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081381
AA Change: L519P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: L519P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S8
|
209 |
464 |
1.5e-43 |
PFAM |
|
transmembrane domain
|
1000 |
1022 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098362
AA Change: L519P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: L519P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S8
|
213 |
473 |
3.7e-45 |
PFAM |
|
transmembrane domain
|
1000 |
1022 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212685
|
| Meta Mutation Damage Score |
0.8352 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to implantation. Mice homozygous for an ENU-induced allele exhibit hypopigmentation, reduced female fertility, altered lipid homeostasis, and increased susceptibility to induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(38) : Targeted(3) Gene trapped(34) Chemically induced(1)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
G |
A |
8: 120,342,502 (GRCm39) |
R380H |
probably damaging |
Het |
| Akr1c12 |
C |
A |
13: 4,325,767 (GRCm39) |
D109Y |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,033,582 (GRCm39) |
M1020L |
possibly damaging |
Het |
| Cbx8 |
C |
A |
11: 118,931,213 (GRCm39) |
R25L |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,407 (GRCm39) |
Y633C |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,484,752 (GRCm39) |
S505N |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,839,810 (GRCm39) |
H539L |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,872,999 (GRCm39) |
D47E |
probably benign |
Het |
| Dnah3 |
A |
C |
7: 119,608,607 (GRCm39) |
M1784R |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,966,828 (GRCm39) |
L2520* |
probably null |
Het |
| E2f2 |
A |
G |
4: 135,905,796 (GRCm39) |
E103G |
possibly damaging |
Het |
| Eef1akmt3 |
T |
A |
10: 126,868,877 (GRCm39) |
H199L |
possibly damaging |
Het |
| Faxc |
A |
T |
4: 21,993,376 (GRCm39) |
N340I |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,497,026 (GRCm39) |
R1199* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,509,855 (GRCm39) |
D1439G |
probably damaging |
Het |
| Galnt5 |
G |
T |
2: 57,925,261 (GRCm39) |
W847C |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,337,793 (GRCm39) |
S303N |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,896,332 (GRCm39) |
K40* |
probably null |
Het |
| Gm4353 |
A |
C |
7: 115,683,134 (GRCm39) |
L149R |
possibly damaging |
Het |
| Grk5 |
A |
G |
19: 61,078,380 (GRCm39) |
D479G |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,471,486 (GRCm39) |
|
probably null |
Het |
| Hace1 |
T |
C |
10: 45,524,986 (GRCm39) |
Y251H |
probably benign |
Het |
| Hhla1 |
G |
T |
15: 65,813,646 (GRCm39) |
P229T |
probably damaging |
Het |
| Hspa1l |
C |
T |
17: 35,196,428 (GRCm39) |
Q156* |
probably null |
Het |
| Igkv4-78 |
A |
T |
6: 69,036,683 (GRCm39) |
Y117N |
probably benign |
Het |
| Ikzf3 |
C |
A |
11: 98,357,879 (GRCm39) |
R486L |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,355,164 (GRCm39) |
T485M |
possibly damaging |
Het |
| Kcnab3 |
T |
C |
11: 69,219,401 (GRCm39) |
Y131H |
probably benign |
Het |
| Kcnu1 |
C |
T |
8: 26,422,362 (GRCm39) |
P209L |
probably benign |
Het |
| Klk1b8 |
T |
A |
7: 43,448,094 (GRCm39) |
C39* |
probably null |
Het |
| Mgat4a |
A |
G |
1: 37,495,673 (GRCm39) |
I287T |
probably damaging |
Het |
| Mindy2 |
T |
C |
9: 70,512,480 (GRCm39) |
E590G |
possibly damaging |
Het |
| Mllt11 |
G |
T |
3: 95,127,602 (GRCm39) |
T56K |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,875,249 (GRCm39) |
R1551H |
probably damaging |
Het |
| Nmrk2 |
T |
C |
10: 81,036,796 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or2ab1 |
T |
A |
11: 58,488,831 (GRCm39) |
F203Y |
probably damaging |
Het |
| Or7e170 |
G |
T |
9: 19,795,365 (GRCm39) |
P79T |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 109,013,899 (GRCm39) |
D65G |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,957,131 (GRCm39) |
K1079* |
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,212,486 (GRCm39) |
S1026G |
possibly damaging |
Het |
| Pnrc2 |
A |
T |
4: 135,599,397 (GRCm39) |
H117Q |
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,749,455 (GRCm39) |
I1114F |
probably damaging |
Het |
| Rpl12 |
G |
A |
2: 32,853,000 (GRCm39) |
E72K |
probably benign |
Het |
| Sbf1 |
C |
T |
15: 89,177,679 (GRCm39) |
R1642H |
probably benign |
Het |
| Sephs2 |
G |
A |
7: 126,873,118 (GRCm39) |
|
probably benign |
Het |
| Slc35c2 |
A |
T |
2: 165,122,617 (GRCm39) |
L194H |
probably damaging |
Het |
| Slfn4 |
T |
A |
11: 83,079,938 (GRCm39) |
Y150N |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,292,723 (GRCm39) |
R949G |
probably damaging |
Het |
| Urah |
T |
A |
7: 140,415,618 (GRCm39) |
S28T |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,941,860 (GRCm39) |
S649P |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,929,728 (GRCm39) |
G1263V |
probably damaging |
Het |
| Zbtb4 |
C |
A |
11: 69,669,069 (GRCm39) |
D114E |
possibly damaging |
Het |
|
| Other mutations in Mbtps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Muskrat
|
UTSW |
8 |
120,264,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
packrat
|
UTSW |
8 |
120,255,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
woodrat
|
UTSW |
8 |
120,255,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Mbtps1
|
UTSW |
8 |
120,262,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Mbtps1
|
UTSW |
8 |
120,264,856 (GRCm39) |
splice site |
probably benign |
|
|
R0485:Mbtps1
|
UTSW |
8 |
120,249,340 (GRCm39) |
splice site |
probably benign |
|
|
R1269:Mbtps1
|
UTSW |
8 |
120,247,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Mbtps1
|
UTSW |
8 |
120,244,901 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1536:Mbtps1
|
UTSW |
8 |
120,272,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1542:Mbtps1
|
UTSW |
8 |
120,272,986 (GRCm39) |
splice site |
probably null |
|
|
R1543:Mbtps1
|
UTSW |
8 |
120,268,808 (GRCm39) |
splice site |
probably benign |
|
|
R1580:Mbtps1
|
UTSW |
8 |
120,265,639 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1587:Mbtps1
|
UTSW |
8 |
120,244,958 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1715:Mbtps1
|
UTSW |
8 |
120,269,469 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1845:Mbtps1
|
UTSW |
8 |
120,249,232 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2147:Mbtps1
|
UTSW |
8 |
120,265,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2157:Mbtps1
|
UTSW |
8 |
120,269,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2416:Mbtps1
|
UTSW |
8 |
120,265,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2910:Mbtps1
|
UTSW |
8 |
120,272,776 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2911:Mbtps1
|
UTSW |
8 |
120,272,776 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3079:Mbtps1
|
UTSW |
8 |
120,265,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3079:Mbtps1
|
UTSW |
8 |
120,257,944 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3080:Mbtps1
|
UTSW |
8 |
120,265,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3080:Mbtps1
|
UTSW |
8 |
120,257,944 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4116:Mbtps1
|
UTSW |
8 |
120,268,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4296:Mbtps1
|
UTSW |
8 |
120,249,238 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4602:Mbtps1
|
UTSW |
8 |
120,262,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Mbtps1
|
UTSW |
8 |
120,262,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Mbtps1
|
UTSW |
8 |
120,262,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Mbtps1
|
UTSW |
8 |
120,262,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Mbtps1
|
UTSW |
8 |
120,252,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Mbtps1
|
UTSW |
8 |
120,235,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4893:Mbtps1
|
UTSW |
8 |
120,244,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Mbtps1
|
UTSW |
8 |
120,260,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Mbtps1
|
UTSW |
8 |
120,242,341 (GRCm39) |
missense |
probably benign |
|
|
R6062:Mbtps1
|
UTSW |
8 |
120,257,830 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6617:Mbtps1
|
UTSW |
8 |
120,264,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:Mbtps1
|
UTSW |
8 |
120,251,307 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7275:Mbtps1
|
UTSW |
8 |
120,269,489 (GRCm39) |
missense |
probably benign |
|
|
R7794:Mbtps1
|
UTSW |
8 |
120,265,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Mbtps1
|
UTSW |
8 |
120,274,544 (GRCm39) |
start gained |
probably benign |
|
|
R8104:Mbtps1
|
UTSW |
8 |
120,255,794 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8205:Mbtps1
|
UTSW |
8 |
120,247,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Mbtps1
|
UTSW |
8 |
120,272,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8487:Mbtps1
|
UTSW |
8 |
120,268,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Mbtps1
|
UTSW |
8 |
120,235,601 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9155:Mbtps1
|
UTSW |
8 |
120,235,693 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9168:Mbtps1
|
UTSW |
8 |
120,248,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9172:Mbtps1
|
UTSW |
8 |
120,260,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Mbtps1
|
UTSW |
8 |
120,235,621 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
RF019:Mbtps1
|
UTSW |
8 |
120,252,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Mbtps1
|
UTSW |
8 |
120,257,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Mbtps1
|
UTSW |
8 |
120,249,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGCAGCTGAAAGGAGCC -3'
(R):5'- TACAAGCAGGCCTTTAGTGTG -3'
Sequencing Primer
(F):5'- TGGATGACCTGGAACTCACTC -3'
(R):5'- AGGCCTTTAGTGTGCAGCC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation