Incidental Mutation 'R6650:Msln'
| ID |
527758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msln
|
| Ensembl Gene |
ENSMUSG00000063011 |
| Gene Name |
mesothelin |
| Synonyms |
megakaryocyte potentiating factor, MPF |
| MMRRC Submission |
044771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25967587-25973352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25969144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 414
(I414V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047098]
[ENSMUST00000075884]
|
| AlphaFold |
Q61468 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047098
|
| SMART Domains |
Protein: ENSMUSP00000049020
Gene: ENSMUSG00000041062
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Mesothelin
|
29 |
589 |
2.8e-70 |
PFAM |
|
low complexity region
|
633 |
653 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075884
AA Change: I414V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000075279
Gene: ENSMUSG00000063011
AA Change: I414V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mesothelin
|
1 |
624 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102319
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disruptions in this allele display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
| Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
| Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
| Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
| Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
| Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
| Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
| Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
| Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
| Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
| Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,948 (GRCm39) |
F283Y |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,935,953 (GRCm39) |
|
probably null |
Het |
| Pira12 |
T |
A |
7: 3,898,632 (GRCm39) |
Q272L |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,819,898 (GRCm39) |
H555L |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,599,936 (GRCm39) |
E516G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,663 (GRCm39) |
G685D |
probably benign |
Het |
| Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
| Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
| Ugt2a2 |
A |
G |
5: 87,622,459 (GRCm39) |
Y380H |
probably damaging |
Het |
| Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
| Zfp235 |
T |
A |
7: 23,836,463 (GRCm39) |
|
probably null |
Het |
| Zfp354c |
A |
G |
11: 50,705,518 (GRCm39) |
V519A |
probably damaging |
Het |
|
| Other mutations in Msln |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01739:Msln
|
APN |
17 |
25,969,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02986:Msln
|
APN |
17 |
25,971,907 (GRCm39) |
splice site |
probably benign |
|
|
R0349:Msln
|
UTSW |
17 |
25,969,250 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0562:Msln
|
UTSW |
17 |
25,971,980 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0845:Msln
|
UTSW |
17 |
25,969,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Msln
|
UTSW |
17 |
25,973,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1305:Msln
|
UTSW |
17 |
25,972,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1651:Msln
|
UTSW |
17 |
25,972,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1930:Msln
|
UTSW |
17 |
25,970,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1996:Msln
|
UTSW |
17 |
25,973,193 (GRCm39) |
start codon destroyed |
possibly damaging |
0.94 |
|
R4532:Msln
|
UTSW |
17 |
25,969,698 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5004:Msln
|
UTSW |
17 |
25,973,193 (GRCm39) |
start codon destroyed |
possibly damaging |
0.94 |
|
R5157:Msln
|
UTSW |
17 |
25,971,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5159:Msln
|
UTSW |
17 |
25,970,563 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5510:Msln
|
UTSW |
17 |
25,968,847 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6385:Msln
|
UTSW |
17 |
25,970,115 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6682:Msln
|
UTSW |
17 |
25,971,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7091:Msln
|
UTSW |
17 |
25,969,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7472:Msln
|
UTSW |
17 |
25,969,708 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8085:Msln
|
UTSW |
17 |
25,971,942 (GRCm39) |
nonsense |
probably null |
|
|
R8289:Msln
|
UTSW |
17 |
25,967,880 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9137:Msln
|
UTSW |
17 |
25,969,084 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9217:Msln
|
UTSW |
17 |
25,970,125 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9309:Msln
|
UTSW |
17 |
25,970,148 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9311:Msln
|
UTSW |
17 |
25,971,990 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9441:Msln
|
UTSW |
17 |
25,969,731 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9652:Msln
|
UTSW |
17 |
25,968,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Msln
|
UTSW |
17 |
25,969,008 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9798:Msln
|
UTSW |
17 |
25,972,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0002:Msln
|
UTSW |
17 |
25,971,284 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Msln
|
UTSW |
17 |
25,972,768 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAATATCCACTCGGCCCTG -3'
(R):5'- TATCCTGAGTCCCTGATCCAGC -3'
Sequencing Primer
(F):5'- CCTGCAGACCCCTGAACTC -3'
(R):5'- GATATGTTAGCCCTGAAGACATCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation