Incidental Mutation 'R8391:Masp1'
ID |
647399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Masp1
|
Ensembl Gene |
ENSMUSG00000022887 |
Gene Name |
MBL associated serine protease 1 |
Synonyms |
Crarf |
MMRRC Submission |
067756-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R8391 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
23268167-23339565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 23289128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 557
(H557Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089883]
[ENSMUST00000229619]
|
AlphaFold |
P98064 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089883
|
SMART Domains |
Protein: ENSMUSP00000087327 Gene: ENSMUSG00000022887
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229619
AA Change: H557Q
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
C |
16: 20,368,968 (GRCm39) |
S155P |
possibly damaging |
Het |
Akr1c21 |
C |
T |
13: 4,626,278 (GRCm39) |
R101W |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,375,794 (GRCm39) |
N154I |
probably damaging |
Het |
Aoc1l2 |
T |
C |
6: 48,909,602 (GRCm39) |
W616R |
probably damaging |
Het |
Atp2a1 |
T |
A |
7: 126,047,888 (GRCm39) |
I641F |
possibly damaging |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Bltp3b |
T |
C |
10: 89,645,605 (GRCm39) |
V1226A |
possibly damaging |
Het |
Cacna1b |
G |
A |
2: 24,596,212 (GRCm39) |
A493V |
probably damaging |
Het |
Cacna1h |
G |
A |
17: 25,596,204 (GRCm39) |
A1939V |
probably benign |
Het |
Cacna2d4 |
A |
G |
6: 119,325,706 (GRCm39) |
I1027V |
probably benign |
Het |
Cbln3 |
G |
A |
14: 56,120,523 (GRCm39) |
R170C |
probably damaging |
Het |
Cemip |
T |
C |
7: 83,604,517 (GRCm39) |
S842G |
probably damaging |
Het |
Cep164 |
T |
A |
9: 45,718,491 (GRCm39) |
Q284L |
unknown |
Het |
Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
Fhip1a |
T |
C |
3: 85,595,788 (GRCm39) |
N366D |
probably damaging |
Het |
Gars1 |
T |
A |
6: 55,025,127 (GRCm39) |
Y124N |
probably damaging |
Het |
Gbp2b |
T |
C |
3: 142,309,894 (GRCm39) |
F228S |
probably damaging |
Het |
Gm5565 |
C |
A |
5: 146,096,962 (GRCm39) |
R59L |
probably benign |
Het |
Gm8947 |
A |
T |
1: 151,068,737 (GRCm39) |
D190V |
probably benign |
Het |
Grid2ip |
T |
C |
5: 143,365,951 (GRCm39) |
M543T |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,681,213 (GRCm39) |
L957P |
probably damaging |
Het |
Hint1 |
T |
C |
11: 54,757,368 (GRCm39) |
I18T |
possibly damaging |
Het |
Il23r |
T |
C |
6: 67,429,374 (GRCm39) |
S323G |
probably benign |
Het |
Iqcf3 |
T |
G |
9: 106,438,175 (GRCm39) |
E16A |
unknown |
Het |
Kcnj1 |
A |
T |
9: 32,308,028 (GRCm39) |
T151S |
probably damaging |
Het |
Kdm1a |
G |
T |
4: 136,281,154 (GRCm39) |
T685K |
probably benign |
Het |
Lipo4 |
T |
A |
19: 33,488,965 (GRCm39) |
H206L |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,654,185 (GRCm39) |
Y1081H |
probably damaging |
Het |
Nhsl1 |
C |
T |
10: 18,400,691 (GRCm39) |
T605I |
possibly damaging |
Het |
Or1af1 |
T |
A |
2: 37,110,277 (GRCm39) |
Y259N |
probably damaging |
Het |
Or1j21 |
C |
T |
2: 36,684,096 (GRCm39) |
P283S |
probably damaging |
Het |
Pkmyt1 |
C |
T |
17: 23,954,013 (GRCm39) |
R307C |
probably damaging |
Het |
Plppr4 |
T |
C |
3: 117,129,060 (GRCm39) |
I136V |
probably benign |
Het |
Ppp1r12c |
A |
C |
7: 4,500,431 (GRCm39) |
Y150D |
probably damaging |
Het |
Qrich2 |
C |
G |
11: 116,356,403 (GRCm39) |
V149L |
probably benign |
Het |
R3hdm1 |
T |
C |
1: 128,121,215 (GRCm39) |
F176L |
|
Het |
Ric8a |
T |
A |
7: 140,437,916 (GRCm39) |
S52T |
probably benign |
Het |
Romo1 |
G |
T |
2: 155,986,340 (GRCm39) |
|
probably benign |
Het |
Rps6ka1 |
G |
A |
4: 133,591,346 (GRCm39) |
H318Y |
probably damaging |
Het |
Slc43a3 |
A |
G |
2: 84,768,151 (GRCm39) |
N41S |
probably benign |
Het |
Srrm4 |
T |
G |
5: 116,582,755 (GRCm39) |
T567P |
unknown |
Het |
Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
St6galnac4 |
G |
T |
2: 32,484,086 (GRCm39) |
D95Y |
probably damaging |
Het |
Sult2a6 |
T |
C |
7: 13,956,516 (GRCm39) |
|
probably null |
Het |
Synj2 |
A |
G |
17: 5,991,796 (GRCm39) |
E24G |
probably damaging |
Het |
Try10 |
T |
G |
6: 41,334,306 (GRCm39) |
L166R |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,562,544 (GRCm39) |
V28767A |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,604,822 (GRCm39) |
I18371F |
probably damaging |
Het |
Zc3h13 |
T |
A |
14: 75,568,625 (GRCm39) |
L1306Q |
probably damaging |
Het |
Zp2 |
T |
A |
7: 119,726,179 (GRCm39) |
T674S |
probably benign |
Het |
Zscan4-ps3 |
A |
G |
7: 11,346,801 (GRCm39) |
Y279C |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCCACTGAGGATGATCTC -3'
(R):5'- ACCAAACGACAAGTGGTTCGG -3'
Sequencing Primer
(F):5'- CGTCCACTGTCACATTAGGATTGG -3'
(R):5'- TGAGTCCTGGATACTCACAGCAG -3'
|
Posted On |
2020-09-02 |