Incidental Mutation 'IGL02947:Masp1'
| ID |
364806 |
| 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 # |
IGL02947
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
23268167-23339565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23313476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 153
(D153A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089883]
[ENSMUST00000229619]
[ENSMUST00000230040]
|
| AlphaFold |
P98064 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089883
AA Change: D153A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: D153A
| 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 |
noncoding transcript
Transcript: ENSMUST00000229152
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229619
AA Change: D153A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230040
AA Change: D153A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,049,957 (GRCm39) |
V13A |
probably benign |
Het |
| Atp8b5 |
T |
A |
4: 43,305,774 (GRCm39) |
I106K |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 123,592,111 (GRCm39) |
S633P |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,723,134 (GRCm39) |
T228A |
probably benign |
Het |
| Cfap90 |
T |
A |
13: 68,759,312 (GRCm39) |
F95L |
probably benign |
Het |
| Chrng |
A |
G |
1: 87,137,606 (GRCm39) |
|
probably null |
Het |
| Coprs |
T |
C |
8: 13,935,782 (GRCm39) |
E79G |
probably damaging |
Het |
| Cpb2 |
A |
C |
14: 75,520,758 (GRCm39) |
Y391S |
probably damaging |
Het |
| Cyp2j8 |
A |
T |
4: 96,358,815 (GRCm39) |
I368N |
probably damaging |
Het |
| Ddah1 |
T |
C |
3: 145,464,842 (GRCm39) |
F76L |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,261,514 (GRCm39) |
T573A |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,835,411 (GRCm39) |
M375L |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,706,502 (GRCm39) |
E994G |
probably damaging |
Het |
| Fem1a |
T |
A |
17: 56,565,640 (GRCm39) |
C578S |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,936,606 (GRCm39) |
S188P |
probably damaging |
Het |
| Gpn3 |
T |
C |
5: 122,516,551 (GRCm39) |
V60A |
possibly damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,043,690 (GRCm39) |
D59G |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,145,094 (GRCm39) |
E815V |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,487,601 (GRCm39) |
T228M |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 144,930,884 (GRCm39) |
I320M |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,791,234 (GRCm39) |
T437A |
probably damaging |
Het |
| Ltf |
C |
T |
9: 110,868,015 (GRCm39) |
T48I |
probably benign |
Het |
| Mcpt9 |
T |
A |
14: 56,264,373 (GRCm39) |
R241* |
probably null |
Het |
| Msantd4 |
T |
A |
9: 4,384,787 (GRCm39) |
S171T |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,081,382 (GRCm39) |
V1229M |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,179,246 (GRCm39) |
S55P |
probably benign |
Het |
| Oc90 |
T |
C |
15: 65,759,983 (GRCm39) |
K212R |
probably benign |
Het |
| Or2a12 |
A |
G |
6: 42,904,830 (GRCm39) |
I222V |
probably benign |
Het |
| Or5t15 |
C |
T |
2: 86,681,130 (GRCm39) |
R304K |
probably benign |
Het |
| Or6c202 |
C |
A |
10: 128,996,439 (GRCm39) |
C138F |
probably damaging |
Het |
| Prr12 |
T |
A |
7: 44,697,980 (GRCm39) |
Q645L |
unknown |
Het |
| Psmd9 |
A |
G |
5: 123,384,278 (GRCm39) |
I145V |
probably benign |
Het |
| Rbks |
T |
C |
5: 31,817,407 (GRCm39) |
I121V |
probably benign |
Het |
| Rnase2b |
A |
T |
14: 51,400,264 (GRCm39) |
Y115F |
probably damaging |
Het |
| Sarnp |
A |
G |
10: 128,675,723 (GRCm39) |
E78G |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,498,946 (GRCm39) |
S1007G |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,182,759 (GRCm39) |
Y100* |
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,029,720 (GRCm39) |
S222P |
probably benign |
Het |
| Sult3a1 |
G |
A |
10: 33,740,046 (GRCm39) |
R35Q |
possibly damaging |
Het |
| Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
| Tmem53 |
C |
T |
4: 117,125,285 (GRCm39) |
Q111* |
probably null |
Het |
| Togaram1 |
T |
A |
12: 65,068,274 (GRCm39) |
V1709D |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,878,483 (GRCm39) |
D628V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,544,838 (GRCm39) |
K31009* |
probably null |
Het |
| Vldlr |
A |
G |
19: 27,217,120 (GRCm39) |
I58V |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,934,231 (GRCm39) |
F245S |
probably benign |
Het |
| Vrtn |
T |
A |
12: 84,695,258 (GRCm39) |
S3T |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,242,476 (GRCm39) |
|
probably null |
Het |
| Wrnip1 |
T |
A |
13: 33,006,053 (GRCm39) |
Y632N |
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 |
|
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 |
2015-12-18 |
Incidental Mutation