Incidental Mutation 'R5663:Masp1'
ID |
444224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Masp1
|
Ensembl Gene |
ENSMUSG00000022887 |
Gene Name |
MBL associated serine protease 1 |
Synonyms |
Crarf |
MMRRC Submission |
043306-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R5663 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
23268167-23339565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23271688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 621
(E621G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089883]
|
AlphaFold |
P98064 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089883
AA Change: E621G
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000087327 Gene: ENSMUSG00000022887 AA Change: E621G
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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 |
Adgra3 |
T |
C |
5: 50,156,627 (GRCm39) |
N368D |
probably benign |
Het |
Agfg1 |
T |
A |
1: 82,871,173 (GRCm39) |
S444R |
probably damaging |
Het |
Arhgap44 |
A |
T |
11: 64,915,117 (GRCm39) |
F384I |
probably damaging |
Het |
Atp8b2 |
T |
C |
3: 89,849,101 (GRCm39) |
N1078D |
probably benign |
Het |
Bcan |
G |
A |
3: 87,902,920 (GRCm39) |
T286I |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,845,297 (GRCm39) |
L624P |
probably damaging |
Het |
Ccn5 |
G |
A |
2: 163,667,173 (GRCm39) |
R58Q |
probably damaging |
Het |
Cimip1 |
C |
T |
2: 173,369,690 (GRCm39) |
P68L |
probably damaging |
Het |
Dnah7c |
C |
A |
1: 46,574,308 (GRCm39) |
F994L |
probably damaging |
Het |
Dpp6 |
A |
G |
5: 27,254,620 (GRCm39) |
I12V |
possibly damaging |
Het |
Edil3 |
A |
G |
13: 89,190,627 (GRCm39) |
I101M |
probably damaging |
Het |
Elapor1 |
T |
C |
3: 108,399,399 (GRCm39) |
T64A |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,497,735 (GRCm39) |
V255A |
probably damaging |
Het |
Fhip1a |
T |
C |
3: 85,579,740 (GRCm39) |
T822A |
probably benign |
Het |
Fzr1 |
A |
G |
10: 81,206,360 (GRCm39) |
S137P |
probably benign |
Het |
H2-Eb2 |
T |
C |
17: 34,552,382 (GRCm39) |
F76L |
possibly damaging |
Het |
Helb |
A |
G |
10: 119,941,698 (GRCm39) |
I330T |
possibly damaging |
Het |
Il18rap |
T |
A |
1: 40,570,717 (GRCm39) |
C220S |
probably damaging |
Het |
Kdm4c |
T |
C |
4: 74,317,585 (GRCm39) |
V966A |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,558,373 (GRCm39) |
V1460A |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,820,916 (GRCm39) |
|
probably null |
Het |
Liat1 |
A |
G |
11: 75,891,047 (GRCm39) |
K54E |
probably damaging |
Het |
Lrrc37 |
A |
G |
11: 103,503,949 (GRCm39) |
V497A |
probably benign |
Het |
Mier1 |
T |
A |
4: 103,007,739 (GRCm39) |
S285T |
probably damaging |
Het |
Mroh6 |
A |
G |
15: 75,760,437 (GRCm39) |
S46P |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,472,155 (GRCm39) |
Q395L |
probably damaging |
Het |
Ndufb5 |
T |
C |
3: 32,801,898 (GRCm39) |
I86T |
possibly damaging |
Het |
Nelfb |
T |
A |
2: 25,093,501 (GRCm39) |
E417V |
probably benign |
Het |
Nfkb1 |
T |
G |
3: 135,309,612 (GRCm39) |
D494A |
possibly damaging |
Het |
Nid1 |
G |
A |
13: 13,647,419 (GRCm39) |
C395Y |
probably damaging |
Het |
Nr4a3 |
G |
T |
4: 48,055,931 (GRCm39) |
R319I |
probably damaging |
Het |
Or2ag13 |
T |
A |
7: 106,472,877 (GRCm39) |
T192S |
probably benign |
Het |
Or4e1 |
A |
T |
14: 52,701,052 (GRCm39) |
I138K |
probably benign |
Het |
Or6f2 |
G |
A |
7: 139,756,234 (GRCm39) |
C67Y |
probably damaging |
Het |
Paqr5 |
A |
G |
9: 61,876,144 (GRCm39) |
V130A |
probably benign |
Het |
Phlpp2 |
G |
A |
8: 110,630,976 (GRCm39) |
V207I |
probably benign |
Het |
Pik3ca |
C |
T |
3: 32,516,928 (GRCm39) |
T1052M |
probably damaging |
Het |
Pikfyve |
T |
C |
1: 65,255,187 (GRCm39) |
Y347H |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,035,142 (GRCm39) |
H1964R |
probably damaging |
Het |
Rassf7 |
C |
T |
7: 140,797,003 (GRCm39) |
T72I |
probably damaging |
Het |
Rfx3 |
A |
G |
19: 27,771,017 (GRCm39) |
F603S |
probably damaging |
Het |
Slc27a4 |
T |
A |
2: 29,702,382 (GRCm39) |
V477D |
probably damaging |
Het |
Slc9a3 |
A |
C |
13: 74,311,831 (GRCm39) |
D593A |
probably damaging |
Het |
Smyd1 |
A |
G |
6: 71,216,705 (GRCm39) |
I14T |
probably benign |
Het |
Sox6 |
T |
A |
7: 115,149,289 (GRCm39) |
I404L |
probably benign |
Het |
Tas2r121 |
G |
A |
6: 132,677,520 (GRCm39) |
H151Y |
probably benign |
Het |
Tgfb1 |
C |
T |
7: 25,393,706 (GRCm39) |
T192M |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
Whrn |
T |
A |
4: 63,336,685 (GRCm39) |
N626Y |
probably damaging |
Het |
Xrra1 |
T |
A |
7: 99,535,250 (GRCm39) |
I185N |
probably damaging |
Het |
Zfp94 |
G |
A |
7: 24,002,252 (GRCm39) |
R397W |
probably 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCAGAAAGGGCTGGTTCAG -3'
(R):5'- CACGGTGTTTCTATATGCTGTC -3'
Sequencing Primer
(F):5'- GGATGGCAAAAGTTCTATATTCCCCC -3'
(R):5'- AAAGCTGCTTTACCAGGGTC -3'
|
Posted On |
2016-11-09 |