Incidental Mutation 'R7539:Masp1'
| ID |
583814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Masp1
|
| Ensembl Gene |
ENSMUSG00000022887 |
| Gene Name |
MBL associated serine protease 1 |
| Synonyms |
Crarf |
| MMRRC Submission |
045611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R7539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 98.9%
|
| Validation Efficiency |
100% (63/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Abcf3 |
T |
C |
16: 20,371,382 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
C |
A |
14: 49,311,014 (GRCm39) |
P28Q |
probably damaging |
Het |
| Bet1l |
T |
C |
7: 140,434,457 (GRCm39) |
D83G |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,956,691 (GRCm39) |
S3571P |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,975,203 (GRCm39) |
M2037K |
possibly damaging |
Het |
| Ccdc80 |
A |
T |
16: 44,915,445 (GRCm39) |
E67V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,746,654 (GRCm39) |
M133V |
probably benign |
Het |
| Ckmt2 |
C |
A |
13: 92,008,063 (GRCm39) |
D224Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,230,728 (GRCm39) |
I1002V |
probably benign |
Het |
| Crb1 |
T |
G |
1: 139,175,967 (GRCm39) |
K672T |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,119 (GRCm39) |
S4515P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,818,848 (GRCm39) |
S1545P |
probably damaging |
Het |
| Dop1a |
T |
G |
9: 86,403,626 (GRCm39) |
S145A |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,036 (GRCm39) |
S92P |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,268,464 (GRCm39) |
D103G |
possibly damaging |
Het |
| Fech |
T |
A |
18: 64,616,565 (GRCm39) |
|
probably null |
Het |
| Folh1 |
T |
A |
7: 86,375,117 (GRCm39) |
E623V |
probably benign |
Het |
| Galnt5 |
T |
C |
2: 57,925,242 (GRCm39) |
L841P |
probably damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm10577 |
C |
T |
4: 100,877,893 (GRCm39) |
V1I |
unknown |
Het |
| Grip1 |
T |
A |
10: 119,890,776 (GRCm39) |
H938Q |
probably benign |
Het |
| Gucy2g |
G |
A |
19: 55,191,586 (GRCm39) |
A955V |
probably damaging |
Het |
| Hpd |
G |
C |
5: 123,316,255 (GRCm39) |
Y165* |
probably null |
Het |
| Iqsec1 |
C |
A |
6: 90,639,873 (GRCm39) |
R955L |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,576,770 (GRCm39) |
T20M |
|
Het |
| Myo16 |
T |
C |
8: 10,411,095 (GRCm39) |
|
probably null |
Het |
| Nfkb2 |
T |
C |
19: 46,296,662 (GRCm39) |
F273L |
possibly damaging |
Het |
| Nherf2 |
G |
T |
17: 24,860,873 (GRCm39) |
A223D |
probably damaging |
Het |
| Or11l3 |
A |
T |
11: 58,516,782 (GRCm39) |
I29N |
probably damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,221 (GRCm39) |
R302G |
probably benign |
Het |
| Or2a56 |
T |
C |
6: 42,933,037 (GRCm39) |
C202R |
possibly damaging |
Het |
| Or4k49 |
T |
C |
2: 111,494,778 (GRCm39) |
V69A |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,977,701 (GRCm39) |
S3G |
probably benign |
Het |
| Or52e3 |
T |
C |
7: 102,869,273 (GRCm39) |
V116A |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,933 (GRCm39) |
Q153* |
probably null |
Het |
| Or6c2 |
A |
T |
10: 129,362,974 (GRCm39) |
K293* |
probably null |
Het |
| Or6c69 |
T |
C |
10: 129,747,932 (GRCm39) |
T72A |
probably damaging |
Het |
| Or7e174 |
A |
T |
9: 20,012,915 (GRCm39) |
M287L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,873,212 (GRCm39) |
I1152N |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,711,167 (GRCm39) |
T1352A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,331 (GRCm39) |
N1669S |
probably damaging |
Het |
| Pinx1 |
A |
T |
14: 64,156,655 (GRCm39) |
Q194L |
probably benign |
Het |
| Podxl2 |
A |
C |
6: 88,826,311 (GRCm39) |
S268A |
probably benign |
Het |
| Polr2c |
C |
A |
8: 95,597,407 (GRCm39) |
H363N |
unknown |
Het |
| Prlr |
C |
T |
15: 10,329,109 (GRCm39) |
T528I |
probably benign |
Het |
| Rab37 |
A |
C |
11: 115,051,487 (GRCm39) |
Q198P |
probably benign |
Het |
| Rrm2b |
T |
A |
15: 37,937,595 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
T |
C |
12: 104,096,970 (GRCm39) |
S84P |
possibly damaging |
Het |
| Stat4 |
A |
T |
1: 52,110,868 (GRCm39) |
|
probably null |
Het |
| Them6 |
T |
C |
15: 74,595,349 (GRCm39) |
I185T |
probably damaging |
Het |
| Tmco4 |
T |
A |
4: 138,749,010 (GRCm39) |
M316K |
probably benign |
Het |
| Tmtc4 |
G |
T |
14: 123,215,701 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,667,668 (GRCm39) |
N248K |
probably benign |
Het |
| Trim43a |
T |
A |
9: 88,465,096 (GRCm39) |
L141Q |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,627,607 (GRCm39) |
V953M |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,853 (GRCm39) |
T684S |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,197 (GRCm39) |
I441N |
unknown |
Het |
| Wfikkn2 |
T |
C |
11: 94,133,185 (GRCm39) |
D64G |
probably damaging |
Het |
| Zfp128 |
C |
A |
7: 12,624,479 (GRCm39) |
Y282* |
probably null |
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 |
|
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'- CCACTGAGGATGATCTCGTC -3'
(R):5'- ACCAAACGACAAGTGGTTCGG -3'
Sequencing Primer
(F):5'- CCACTGTCACATTAGGATTGGAG -3'
(R):5'- TGAGTCCTGGATACTCACAGCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation