Incidental Mutation 'R6901:Masp1'
| ID |
538561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Masp1
|
| Ensembl Gene |
ENSMUSG00000022887 |
| Gene Name |
MBL associated serine protease 1 |
| Synonyms |
Crarf |
| MMRRC Submission |
044995-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R6901 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
23268167-23339565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23332584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 84
(K84E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089883]
[ENSMUST00000229619]
[ENSMUST00000230040]
|
| AlphaFold |
P98064 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089883
AA Change: K84E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: K84E
| 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 |
probably benign
Transcript: ENSMUST00000229619
AA Change: K84E
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230040
AA Change: K84E
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| 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 |
|---|
| Abhd5 |
T |
A |
9: 122,197,220 (GRCm39) |
S136T |
probably benign |
Het |
| Anxa10 |
T |
C |
8: 62,549,816 (GRCm39) |
T10A |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,554,650 (GRCm39) |
E262G |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,134,660 (GRCm39) |
|
probably null |
Het |
| Arhgef40 |
A |
G |
14: 52,234,825 (GRCm39) |
T1043A |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,250,232 (GRCm39) |
S328T |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,113,911 (GRCm39) |
K166R |
probably damaging |
Het |
| Cdh12 |
A |
G |
15: 21,583,872 (GRCm39) |
I571V |
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,501,987 (GRCm39) |
V316I |
probably benign |
Het |
| Cebpg |
A |
T |
7: 34,750,202 (GRCm39) |
H20Q |
probably benign |
Het |
| Ces4a |
G |
A |
8: 105,873,330 (GRCm39) |
V392I |
probably benign |
Het |
| CN725425 |
C |
A |
15: 91,124,966 (GRCm39) |
P169T |
possibly damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,703 (GRCm39) |
F243S |
probably damaging |
Het |
| Dkk2 |
T |
A |
3: 131,880,887 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,131,855 (GRCm39) |
Y1651H |
probably damaging |
Het |
| Dyrk1b |
T |
A |
7: 27,884,542 (GRCm39) |
L346Q |
probably damaging |
Het |
| Ephx4 |
T |
C |
5: 107,561,427 (GRCm39) |
V85A |
probably benign |
Het |
| Etv6 |
A |
G |
6: 134,243,421 (GRCm39) |
E392G |
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,341,221 (GRCm39) |
N202I |
probably benign |
Het |
| Gpc6 |
G |
T |
14: 118,188,629 (GRCm39) |
R421L |
possibly damaging |
Het |
| Gse1 |
A |
G |
8: 120,956,561 (GRCm39) |
|
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,089 (GRCm39) |
E360G |
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,492,675 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,756,190 (GRCm39) |
E136G |
probably damaging |
Het |
| Ift56 |
G |
A |
6: 38,378,079 (GRCm39) |
R297H |
possibly damaging |
Het |
| Kcna3 |
C |
T |
3: 106,943,884 (GRCm39) |
A49V |
probably benign |
Het |
| Krt42 |
C |
T |
11: 100,160,542 (GRCm39) |
M52I |
probably benign |
Het |
| Lyrm4 |
A |
T |
13: 36,301,107 (GRCm39) |
Y13N |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,460,932 (GRCm39) |
S1576L |
possibly damaging |
Het |
| Map3k12 |
G |
T |
15: 102,409,064 (GRCm39) |
P817Q |
possibly damaging |
Het |
| Map3k12 |
G |
T |
15: 102,409,065 (GRCm39) |
P817T |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,310,489 (GRCm39) |
|
probably null |
Het |
| Mrap |
C |
G |
16: 90,546,193 (GRCm39) |
S94C |
probably damaging |
Het |
| Mybpc2 |
C |
A |
7: 44,154,779 (GRCm39) |
C986F |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,926,836 (GRCm39) |
M789R |
probably damaging |
Het |
| Or2ag1b |
T |
C |
7: 106,288,396 (GRCm39) |
I181V |
probably benign |
Het |
| Or6b2 |
G |
T |
1: 92,408,327 (GRCm39) |
N5K |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,116,266 (GRCm39) |
N475S |
probably benign |
Het |
| Pex7 |
C |
T |
10: 19,736,740 (GRCm39) |
V297I |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,341,246 (GRCm39) |
H33L |
unknown |
Het |
| Prl8a6 |
A |
T |
13: 27,621,030 (GRCm39) |
Y67N |
possibly damaging |
Het |
| Rcor1 |
A |
T |
12: 111,075,322 (GRCm39) |
E383V |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,903,944 (GRCm39) |
S64R |
probably damaging |
Het |
| Snx7 |
G |
A |
3: 117,623,285 (GRCm39) |
Q292* |
probably null |
Het |
| Tgm3 |
C |
T |
2: 129,883,890 (GRCm39) |
T516M |
possibly damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,413 (GRCm39) |
E177G |
probably damaging |
Het |
| Ttc28 |
C |
A |
5: 111,424,891 (GRCm39) |
T1541N |
possibly damaging |
Het |
| Ttc8 |
T |
A |
12: 98,927,735 (GRCm39) |
L202H |
probably damaging |
Het |
| Ttll13 |
T |
C |
7: 79,899,930 (GRCm39) |
Y90H |
probably damaging |
Het |
| Uba1y |
T |
G |
Y: 825,496 (GRCm39) |
I286S |
probably benign |
Het |
| Ubxn11 |
G |
A |
4: 133,853,575 (GRCm39) |
A125T |
probably damaging |
Het |
| Vmn1r48 |
A |
G |
6: 90,013,550 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,368 (GRCm39) |
F223L |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,313,880 (GRCm39) |
T696I |
probably benign |
Het |
| Zfp266 |
G |
T |
9: 20,410,895 (GRCm39) |
Y427* |
probably null |
Het |
| Zfp362 |
C |
T |
4: 128,679,808 (GRCm39) |
C273Y |
probably damaging |
Het |
| Zfp385c |
T |
C |
11: 100,523,585 (GRCm39) |
N123S |
probably benign |
Het |
| Zfp936 |
T |
A |
7: 42,839,467 (GRCm39) |
H311Q |
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 |
|
|
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 |
|
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'- TCTCAGGAGGTTGAGCAGTG -3'
(R):5'- TACCGTGGAGCTAAACGAAATG -3'
Sequencing Primer
(F):5'- TGGCTATTGGCTACATTACAGAC -3'
(R):5'- GAAATGTTTGGTCAGATCCAGTCACC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation