Incidental Mutation 'R8475:Masp1'
| ID |
657243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Masp1
|
| Ensembl Gene |
ENSMUSG00000022887 |
| Gene Name |
MBL associated serine protease 1 |
| Synonyms |
Crarf |
| MMRRC Submission |
067919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R8475 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
23268167-23339565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23271281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 656
(V656L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089883]
|
| AlphaFold |
P98064 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089883
AA Change: V656L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: V656L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
CUB
|
23 |
143 |
2.96e-36 |
SMART |
|
EGF_CA
|
144 |
187 |
1.46e-7 |
SMART |
|
CUB
|
190 |
302 |
1.49e-41 |
SMART |
|
CCP
|
306 |
367 |
4.41e-12 |
SMART |
|
CCP
|
372 |
437 |
3.05e-6 |
SMART |
|
Tryp_SPc
|
453 |
696 |
4.66e-84 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knockout allele display decreased survivor rate, reduced body weight, and impaired activation of the lectin and alternative complement pathways. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Adamts14 |
T |
C |
10: 61,038,666 (GRCm39) |
E945G |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,871,976 (GRCm39) |
V958A |
probably benign |
Het |
| Adh6a |
T |
C |
3: 138,030,979 (GRCm39) |
I156T |
probably benign |
Het |
| Akt1 |
A |
G |
12: 112,624,863 (GRCm39) |
V201A |
possibly damaging |
Het |
| Als2cl |
C |
G |
9: 110,715,484 (GRCm39) |
A182G |
possibly damaging |
Het |
| Amn |
T |
A |
12: 111,241,819 (GRCm39) |
L295Q |
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,448,664 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
G |
A |
2: 104,552,314 (GRCm39) |
R498C |
probably benign |
Het |
| Eogt |
A |
T |
6: 97,122,327 (GRCm39) |
Y35* |
probably null |
Het |
| Epb41l1 |
T |
G |
2: 156,364,150 (GRCm39) |
S886R |
probably damaging |
Het |
| Fshr |
A |
T |
17: 89,293,456 (GRCm39) |
D407E |
probably damaging |
Het |
| Gngt1 |
C |
A |
6: 3,994,262 (GRCm39) |
D13E |
probably benign |
Het |
| Grxcr1 |
T |
C |
5: 68,323,484 (GRCm39) |
L254P |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,327 (GRCm39) |
D290G |
probably damaging |
Het |
| Klf16 |
A |
G |
10: 80,412,719 (GRCm39) |
S106P |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,500,204 (GRCm39) |
D264G |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 26,977,369 (GRCm39) |
V1937M |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,370,862 (GRCm39) |
K118N |
probably benign |
Het |
| Manba |
G |
A |
3: 135,217,573 (GRCm39) |
V130I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,164 (GRCm39) |
S527G |
probably damaging |
Het |
| Mrpl10 |
A |
T |
11: 96,938,261 (GRCm39) |
N137I |
probably benign |
Het |
| Mtfmt |
C |
A |
9: 65,359,469 (GRCm39) |
N381K |
probably benign |
Het |
| Myo18b |
A |
T |
5: 113,021,422 (GRCm39) |
Y546* |
probably null |
Het |
| Nectin4 |
C |
T |
1: 171,212,280 (GRCm39) |
R293* |
probably null |
Het |
| Nudt3 |
A |
G |
17: 27,799,776 (GRCm39) |
S136P |
possibly damaging |
Het |
| Or14c39 |
A |
C |
7: 86,344,361 (GRCm39) |
R232S |
probably benign |
Het |
| Or1q1 |
G |
A |
2: 36,887,066 (GRCm39) |
M81I |
probably damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,586 (GRCm39) |
M37V |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,214,066 (GRCm39) |
M213V |
probably benign |
Het |
| Or9m2 |
T |
C |
2: 87,820,536 (GRCm39) |
L27P |
probably damaging |
Het |
| Oxnad1 |
A |
G |
14: 31,823,250 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
G |
16: 13,425,113 (GRCm39) |
|
probably null |
Het |
| Pcdha12 |
T |
C |
18: 37,154,136 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pfkfb2 |
G |
C |
1: 130,624,816 (GRCm39) |
Q515E |
probably benign |
Het |
| Pjvk |
T |
C |
2: 76,480,901 (GRCm39) |
F40L |
probably benign |
Het |
| Pygo2 |
A |
G |
3: 89,340,697 (GRCm39) |
Y328C |
probably damaging |
Het |
| Rapgef5 |
A |
C |
12: 117,681,965 (GRCm39) |
K215Q |
probably damaging |
Het |
| Sephs1 |
T |
A |
2: 4,893,821 (GRCm39) |
|
probably null |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,566,107 (GRCm39) |
Y123H |
probably damaging |
Het |
| Tbx21 |
A |
T |
11: 96,990,808 (GRCm39) |
V290D |
possibly damaging |
Het |
| Tep1 |
C |
A |
14: 51,078,712 (GRCm39) |
G1514W |
probably damaging |
Het |
| Vmn2r16 |
T |
C |
5: 109,487,073 (GRCm39) |
M98T |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,150,455 (GRCm39) |
N474S |
probably benign |
Het |
| Zpbp |
T |
C |
11: 11,365,203 (GRCm39) |
K215E |
possibly damaging |
Het |
|
| Other mutations in Masp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Masp1
|
APN |
16 |
23,276,841 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00428:Masp1
|
APN |
16 |
23,295,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00432:Masp1
|
APN |
16 |
23,332,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Masp1
|
APN |
16 |
23,278,381 (GRCm39) |
missense |
probably benign |
|
|
IGL02718:Masp1
|
APN |
16 |
23,295,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Masp1
|
APN |
16 |
23,313,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
A4554:Masp1
|
UTSW |
16 |
23,273,690 (GRCm39) |
splice site |
probably null |
|
|
PIT1430001:Masp1
|
UTSW |
16 |
23,332,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Masp1
|
UTSW |
16 |
23,276,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Masp1
|
UTSW |
16 |
23,276,888 (GRCm39) |
missense |
probably benign |
|
|
R0630:Masp1
|
UTSW |
16 |
23,271,169 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1146:Masp1
|
UTSW |
16 |
23,310,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Masp1
|
UTSW |
16 |
23,310,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1339:Masp1
|
UTSW |
16 |
23,271,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Masp1
|
UTSW |
16 |
23,313,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Masp1
|
UTSW |
16 |
23,313,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Masp1
|
UTSW |
16 |
23,271,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Masp1
|
UTSW |
16 |
23,302,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2080:Masp1
|
UTSW |
16 |
23,310,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2215:Masp1
|
UTSW |
16 |
23,271,271 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2216:Masp1
|
UTSW |
16 |
23,310,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2443:Masp1
|
UTSW |
16 |
23,295,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Masp1
|
UTSW |
16 |
23,283,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5224:Masp1
|
UTSW |
16 |
23,313,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Masp1
|
UTSW |
16 |
23,276,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5562:Masp1
|
UTSW |
16 |
23,283,917 (GRCm39) |
splice site |
probably null |
|
|
R5663:Masp1
|
UTSW |
16 |
23,271,688 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5742:Masp1
|
UTSW |
16 |
23,273,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5763:Masp1
|
UTSW |
16 |
23,314,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Masp1
|
UTSW |
16 |
23,310,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6901:Masp1
|
UTSW |
16 |
23,332,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6987:Masp1
|
UTSW |
16 |
23,332,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Masp1
|
UTSW |
16 |
23,271,205 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7356:Masp1
|
UTSW |
16 |
23,288,993 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7512:Masp1
|
UTSW |
16 |
23,288,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Masp1
|
UTSW |
16 |
23,289,128 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7810:Masp1
|
UTSW |
16 |
23,295,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8026:Masp1
|
UTSW |
16 |
23,303,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Masp1
|
UTSW |
16 |
23,289,128 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8438:Masp1
|
UTSW |
16 |
23,289,153 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8870:Masp1
|
UTSW |
16 |
23,314,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Masp1
|
UTSW |
16 |
23,339,350 (GRCm39) |
start gained |
probably benign |
|
|
R9072:Masp1
|
UTSW |
16 |
23,288,671 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9073:Masp1
|
UTSW |
16 |
23,288,671 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9599:Masp1
|
UTSW |
16 |
23,271,698 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9686:Masp1
|
UTSW |
16 |
23,314,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Masp1
|
UTSW |
16 |
23,332,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGACCATACAGCAGGTG -3'
(R):5'- CTGAACCAGCCCTTTCTGAC -3'
Sequencing Primer
(F):5'- ACCATACAGCAGGTGTTGGGC -3'
(R):5'- CTGACCTATAGAGCACAGCTTTGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation