Incidental Mutation 'IGL02598:Masp1'
ID |
299967 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Masp1
|
Ensembl Gene |
ENSMUSG00000022887 |
Gene Name |
MBL associated serine protease 1 |
Synonyms |
Crarf |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.160)
|
Stock # |
IGL02598
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
23268167-23339565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23278381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 523
(M523L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089883]
|
AlphaFold |
P98064 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089883
AA Change: M523L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087327 Gene: ENSMUSG00000022887 AA Change: M523L
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 |
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933414I15Rik |
A |
T |
11: 50,834,448 (GRCm39) |
M1K |
probably null |
Het |
Abca13 |
C |
T |
11: 9,381,898 (GRCm39) |
T3850I |
probably damaging |
Het |
Abcc4 |
A |
T |
14: 118,905,781 (GRCm39) |
L95* |
probably null |
Het |
Acacb |
A |
G |
5: 114,384,098 (GRCm39) |
Y2209C |
probably damaging |
Het |
Acadm |
A |
G |
3: 153,644,181 (GRCm39) |
|
probably benign |
Het |
Arid2 |
G |
A |
15: 96,269,417 (GRCm39) |
V1177M |
probably damaging |
Het |
Atp8a1 |
A |
T |
5: 67,840,099 (GRCm39) |
|
probably null |
Het |
Catsperd |
A |
G |
17: 56,954,815 (GRCm39) |
|
probably null |
Het |
Cd28 |
A |
G |
1: 60,802,498 (GRCm39) |
|
probably benign |
Het |
Cep164 |
A |
G |
9: 45,682,002 (GRCm39) |
Y1934H |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,738,713 (GRCm39) |
I2377V |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,533,086 (GRCm39) |
K1581E |
probably damaging |
Het |
Dab2 |
A |
T |
15: 6,458,847 (GRCm39) |
N232I |
probably damaging |
Het |
Dyrk4 |
G |
A |
6: 126,860,982 (GRCm39) |
|
probably benign |
Het |
Efcab14 |
T |
A |
4: 115,597,631 (GRCm39) |
C75* |
probably null |
Het |
Elovl1 |
T |
C |
4: 118,288,616 (GRCm39) |
|
probably null |
Het |
Eps8l2 |
T |
G |
7: 140,934,849 (GRCm39) |
|
probably benign |
Het |
Grik1 |
A |
T |
16: 87,744,872 (GRCm39) |
V460E |
probably damaging |
Het |
Gtf2f2 |
A |
G |
14: 76,245,182 (GRCm39) |
S35P |
probably benign |
Het |
Ifi203 |
A |
G |
1: 173,762,568 (GRCm39) |
|
probably benign |
Het |
Ifi209 |
T |
C |
1: 173,472,281 (GRCm39) |
V374A |
probably damaging |
Het |
Kics2 |
G |
A |
10: 121,575,876 (GRCm39) |
|
probably benign |
Het |
Lars1 |
A |
G |
18: 42,360,342 (GRCm39) |
S705P |
possibly damaging |
Het |
Lcmt1 |
A |
G |
7: 123,020,871 (GRCm39) |
|
probably benign |
Het |
Limd1 |
T |
C |
9: 123,345,933 (GRCm39) |
S571P |
probably benign |
Het |
Limd1 |
T |
A |
9: 123,309,236 (GRCm39) |
Y312N |
probably benign |
Het |
Lin28b |
A |
T |
10: 45,296,622 (GRCm39) |
D125E |
possibly damaging |
Het |
Lmtk3 |
T |
C |
7: 45,442,564 (GRCm39) |
S416P |
probably damaging |
Het |
Map7d3 |
T |
C |
X: 55,855,146 (GRCm39) |
T446A |
probably benign |
Het |
Mroh4 |
C |
A |
15: 74,483,092 (GRCm39) |
|
probably null |
Het |
Mtmr6 |
G |
A |
14: 60,537,953 (GRCm39) |
A651T |
probably damaging |
Het |
Myocd |
A |
G |
11: 65,074,296 (GRCm39) |
S738P |
probably benign |
Het |
Or10a2 |
A |
T |
7: 106,673,923 (GRCm39) |
N296I |
possibly damaging |
Het |
Or4d5 |
A |
T |
9: 40,011,861 (GRCm39) |
F308L |
probably benign |
Het |
Or52l1 |
A |
G |
7: 104,830,163 (GRCm39) |
V134A |
probably damaging |
Het |
Or5d46 |
A |
T |
2: 88,170,595 (GRCm39) |
I229F |
possibly damaging |
Het |
Or6c3b |
A |
T |
10: 129,527,142 (GRCm39) |
I256N |
possibly damaging |
Het |
Parg |
G |
T |
14: 31,936,281 (GRCm39) |
V479L |
probably damaging |
Het |
Pcdhb10 |
C |
A |
18: 37,546,834 (GRCm39) |
H637N |
possibly damaging |
Het |
Plekhg2 |
G |
A |
7: 28,059,900 (GRCm39) |
T1118I |
possibly damaging |
Het |
Podxl |
T |
C |
6: 31,501,355 (GRCm39) |
E400G |
probably damaging |
Het |
Prss54 |
C |
A |
8: 96,292,337 (GRCm39) |
V81F |
probably damaging |
Het |
Pzp |
A |
G |
6: 128,464,420 (GRCm39) |
L1369P |
probably benign |
Het |
Rfx8 |
A |
T |
1: 39,735,128 (GRCm39) |
|
probably benign |
Het |
Rgs6 |
C |
T |
12: 83,138,571 (GRCm39) |
P302S |
probably benign |
Het |
Rnf148 |
A |
C |
6: 23,654,456 (GRCm39) |
I180S |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,408,061 (GRCm39) |
D350G |
probably benign |
Het |
Slc33a1 |
C |
T |
3: 63,850,753 (GRCm39) |
G524S |
probably benign |
Het |
Slc5a7 |
A |
G |
17: 54,591,221 (GRCm39) |
V237A |
probably benign |
Het |
Spink7 |
T |
C |
18: 62,727,356 (GRCm39) |
D56G |
probably damaging |
Het |
Syn3 |
A |
G |
10: 86,303,063 (GRCm39) |
S31P |
probably damaging |
Het |
Tesl1 |
A |
T |
X: 23,773,710 (GRCm39) |
T404S |
probably benign |
Het |
Thrb |
C |
A |
14: 18,008,606 (GRCm38) |
P110Q |
possibly damaging |
Het |
Vmn2r76 |
G |
T |
7: 85,877,879 (GRCm39) |
T506K |
probably benign |
Het |
Vps45 |
A |
G |
3: 95,938,354 (GRCm39) |
L486P |
probably benign |
Het |
Zan |
G |
A |
5: 137,444,473 (GRCm39) |
T1823M |
unknown |
Het |
Zdhhc6 |
T |
A |
19: 55,302,959 (GRCm39) |
Q14L |
probably benign |
Het |
Zfp990 |
A |
T |
4: 145,263,533 (GRCm39) |
N177I |
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 |
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 |
R8475:Masp1
|
UTSW |
16 |
23,271,281 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2015-04-16 |