Incidental Mutation 'R2147:Mbtps1'
| ID |
233923 |
| 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 |
040150-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2147 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120234895-120285474 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120265598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 316
(H316Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081381]
[ENSMUST00000098362]
|
| AlphaFold |
Q9WTZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081381
AA Change: H316Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: H316Q
| 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 benign
Transcript: ENSMUST00000098362
AA Change: H316Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: H316Q
| 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: ENSMUST00000212244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212685
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
A |
1: 159,903,003 (GRCm39) |
M91K |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,474 (GRCm39) |
R437G |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,167,362 (GRCm39) |
D1045E |
probably benign |
Het |
| Adam23 |
A |
T |
1: 63,573,521 (GRCm39) |
|
probably null |
Het |
| Adam34 |
A |
G |
8: 44,105,538 (GRCm39) |
Y36H |
probably benign |
Het |
| Alg11 |
G |
A |
8: 22,555,309 (GRCm39) |
G108D |
probably damaging |
Het |
| Alox12e |
A |
T |
11: 70,210,771 (GRCm39) |
I316N |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,408,677 (GRCm39) |
F1943L |
unknown |
Het |
| Armh4 |
T |
C |
14: 49,989,028 (GRCm39) |
D647G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| BC035044 |
T |
C |
6: 128,867,867 (GRCm39) |
|
probably benign |
Het |
| Bcor |
G |
A |
X: 11,923,862 (GRCm39) |
A578V |
possibly damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,449,288 (GRCm39) |
|
probably null |
Het |
| Cdadc1 |
A |
G |
14: 59,835,202 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
A |
G |
10: 41,616,895 (GRCm39) |
Y131H |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,394,254 (GRCm39) |
V381A |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,272,047 (GRCm39) |
R1267G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,854 (GRCm39) |
L1658Q |
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
T |
A |
5: 24,797,033 (GRCm39) |
F660I |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,717,015 (GRCm39) |
D302E |
probably benign |
Het |
| Cpne3 |
T |
A |
4: 19,536,562 (GRCm39) |
M233L |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
G |
15: 73,395,336 (GRCm39) |
L143R |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,179,472 (GRCm39) |
|
probably null |
Het |
| Ergic1 |
A |
G |
17: 26,855,024 (GRCm39) |
|
probably null |
Het |
| Fbxl15 |
A |
T |
19: 46,317,627 (GRCm39) |
D103V |
probably damaging |
Het |
| Gm4781 |
C |
A |
10: 100,232,414 (GRCm39) |
|
noncoding transcript |
Het |
| Hpca |
A |
G |
4: 129,012,278 (GRCm39) |
I86T |
possibly damaging |
Het |
| Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,010,212 (GRCm39) |
V275A |
probably benign |
Het |
| Lipe |
G |
T |
7: 25,087,946 (GRCm39) |
A38E |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,935,159 (GRCm39) |
|
probably null |
Het |
| Lrsam1 |
T |
C |
2: 32,835,891 (GRCm39) |
K292R |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,580,063 (GRCm39) |
Y525* |
probably null |
Het |
| Mrps14 |
T |
C |
1: 160,022,862 (GRCm39) |
L9P |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,401,055 (GRCm39) |
D2992G |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,966,543 (GRCm39) |
L1327Q |
probably damaging |
Het |
| Nradd |
A |
T |
9: 110,451,243 (GRCm39) |
F42I |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,842 (GRCm39) |
I77F |
probably damaging |
Het |
| Pank1 |
T |
C |
19: 34,804,754 (GRCm39) |
H134R |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 58,286,458 (GRCm39) |
M1178K |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,717,633 (GRCm39) |
I1084N |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,093,191 (GRCm39) |
M490V |
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,958,165 (GRCm39) |
K950E |
unknown |
Het |
| Pitpnc1 |
C |
T |
11: 107,103,344 (GRCm39) |
A252T |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,402,652 (GRCm39) |
L112P |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,357 (GRCm39) |
I231V |
probably benign |
Het |
| Scin |
T |
A |
12: 40,130,984 (GRCm39) |
M310L |
probably benign |
Het |
| Serpina3m |
T |
A |
12: 104,355,483 (GRCm39) |
I50N |
probably benign |
Het |
| Skint8 |
C |
G |
4: 111,794,274 (GRCm39) |
N221K |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,366,990 (GRCm39) |
V673M |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,929,361 (GRCm39) |
D368G |
probably damaging |
Het |
| Slc28a1 |
A |
T |
7: 80,776,015 (GRCm39) |
Q237L |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,705,583 (GRCm39) |
K1005N |
possibly damaging |
Het |
| Stim2 |
T |
C |
5: 54,262,717 (GRCm39) |
Y320H |
probably damaging |
Het |
| Syne3 |
T |
A |
12: 104,919,357 (GRCm39) |
D512V |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
| Tcp10a |
T |
C |
17: 7,601,701 (GRCm39) |
S216P |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
| Tmem236 |
A |
G |
2: 14,223,861 (GRCm39) |
I217V |
probably benign |
Het |
| Tmem45b |
A |
G |
9: 31,340,277 (GRCm39) |
V128A |
probably benign |
Het |
| Tnfaip2 |
T |
C |
12: 111,412,456 (GRCm39) |
Y286H |
probably damaging |
Het |
| Tsc2 |
T |
A |
17: 24,840,116 (GRCm39) |
I427L |
possibly damaging |
Het |
| Ttc17 |
T |
A |
2: 94,132,139 (GRCm39) |
N1180I |
possibly damaging |
Het |
| Ubr1 |
T |
G |
2: 120,694,811 (GRCm39) |
D1707A |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,583 (GRCm39) |
I82M |
probably benign |
Het |
| Vmn2r129 |
T |
C |
4: 156,687,014 (GRCm39) |
|
noncoding transcript |
Het |
| Vps41 |
G |
T |
13: 19,023,904 (GRCm39) |
|
probably null |
Het |
| Wnt5a |
A |
G |
14: 28,235,274 (GRCm39) |
Y86C |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,209,616 (GRCm39) |
H731R |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,960 (GRCm39) |
E189G |
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 |
|
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 |
|
R6237:Mbtps1
|
UTSW |
8 |
120,255,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CACTGGGTTTGTAACATGCAAG -3'
(R):5'- CTTGGAACTTCAAAGCCCATGC -3'
Sequencing Primer
(F):5'- GCAAGTTTCTGAAATTCATGTCAC -3'
(R):5'- TGCTTGTCCTTAGAAAGCAGAGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation