Incidental Mutation 'R4008:Mn1'
| ID |
311565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mn1
|
| Ensembl Gene |
ENSMUSG00000070576 |
| Gene Name |
meningioma 1 |
| Synonyms |
|
| MMRRC Submission |
040946-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4008 (G1)
|
| Quality Score |
108 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
111565228-111604899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 111568035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 668
(E668D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094463]
|
| AlphaFold |
D3YWE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094463
AA Change: E668D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092034
Gene: ENSMUSG00000070576
AA Change: E668D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
354 |
N/A |
INTRINSIC |
|
coiled coil region
|
507 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
957 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
1098 |
1110 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196957
|
| Meta Mutation Damage Score |
0.0593 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die shortly after birth due to cleft palate. Development of several bones in the skull was abnormal with completely absent alisphenoid, squamosal, and vomer bones, hypoplastic basisphenoid, pterygoid, and presphenoid bones, and thinfrontal, parietal, and interparietal bones. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| Batf2 |
G |
A |
19: 6,221,378 (GRCm39) |
E63K |
probably damaging |
Het |
| Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
| Clvs2 |
G |
A |
10: 33,419,458 (GRCm39) |
H199Y |
probably damaging |
Het |
| F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
| H2-K2 |
G |
A |
17: 34,218,525 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Larp7 |
T |
C |
3: 127,334,519 (GRCm39) |
D490G |
probably benign |
Het |
| Map9 |
T |
C |
3: 82,266,390 (GRCm39) |
Y12H |
probably damaging |
Het |
| Mrps18c |
T |
C |
5: 100,950,982 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
T |
A |
2: 25,298,992 (GRCm39) |
Y237* |
probably null |
Het |
| Oprm1 |
A |
G |
10: 6,782,520 (GRCm39) |
M388V |
probably benign |
Het |
| Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
| Or4n5 |
A |
G |
14: 50,132,464 (GRCm39) |
L265P |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Pkn2 |
T |
C |
3: 142,516,219 (GRCm39) |
D568G |
possibly damaging |
Het |
| Pwp1 |
A |
G |
10: 85,717,898 (GRCm39) |
T279A |
possibly damaging |
Het |
| Rabep2 |
C |
A |
7: 126,044,546 (GRCm39) |
D547E |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,676,037 (GRCm39) |
K426R |
probably benign |
Het |
| Rgs14 |
T |
G |
13: 55,517,726 (GRCm39) |
L8V |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,880,521 (GRCm39) |
H407R |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,456,928 (GRCm39) |
F603L |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,465 (GRCm39) |
S244P |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 117,797,637 (GRCm39) |
I252V |
probably benign |
Het |
| Tars3 |
T |
A |
7: 65,327,876 (GRCm39) |
D528E |
probably damaging |
Het |
| Try10 |
A |
G |
6: 41,333,608 (GRCm39) |
T118A |
probably benign |
Het |
| Tshr |
C |
T |
12: 91,504,268 (GRCm39) |
S402L |
probably benign |
Het |
|
| Other mutations in Mn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Mn1
|
APN |
5 |
111,569,413 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01139:Mn1
|
APN |
5 |
111,569,315 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01546:Mn1
|
APN |
5 |
111,569,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Mn1
|
APN |
5 |
111,569,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02821:Mn1
|
APN |
5 |
111,569,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03203:Mn1
|
APN |
5 |
111,569,269 (GRCm39) |
missense |
probably benign |
|
|
Uebermus
|
UTSW |
5 |
111,569,752 (GRCm39) |
splice site |
probably null |
|
|
FR4342:Mn1
|
UTSW |
5 |
111,567,572 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Mn1
|
UTSW |
5 |
111,567,576 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Mn1
|
UTSW |
5 |
111,567,564 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Mn1
|
UTSW |
5 |
111,567,568 (GRCm39) |
small insertion |
probably benign |
|
|
R0639:Mn1
|
UTSW |
5 |
111,567,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0676:Mn1
|
UTSW |
5 |
111,568,900 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1537:Mn1
|
UTSW |
5 |
111,602,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1638:Mn1
|
UTSW |
5 |
111,569,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Mn1
|
UTSW |
5 |
111,567,880 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1922:Mn1
|
UTSW |
5 |
111,566,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2008:Mn1
|
UTSW |
5 |
111,566,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Mn1
|
UTSW |
5 |
111,602,617 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2519:Mn1
|
UTSW |
5 |
111,566,418 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3980:Mn1
|
UTSW |
5 |
111,569,636 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4564:Mn1
|
UTSW |
5 |
111,568,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4647:Mn1
|
UTSW |
5 |
111,567,949 (GRCm39) |
missense |
probably benign |
|
|
R4779:Mn1
|
UTSW |
5 |
111,567,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4819:Mn1
|
UTSW |
5 |
111,567,803 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4962:Mn1
|
UTSW |
5 |
111,602,652 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5373:Mn1
|
UTSW |
5 |
111,569,752 (GRCm39) |
splice site |
probably null |
|
|
R5374:Mn1
|
UTSW |
5 |
111,569,752 (GRCm39) |
splice site |
probably null |
|
|
R5521:Mn1
|
UTSW |
5 |
111,569,635 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5633:Mn1
|
UTSW |
5 |
111,568,192 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5744:Mn1
|
UTSW |
5 |
111,568,402 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6050:Mn1
|
UTSW |
5 |
111,567,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6552:Mn1
|
UTSW |
5 |
111,568,753 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7206:Mn1
|
UTSW |
5 |
111,568,378 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7244:Mn1
|
UTSW |
5 |
111,566,699 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8207:Mn1
|
UTSW |
5 |
111,569,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8222:Mn1
|
UTSW |
5 |
111,566,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Mn1
|
UTSW |
5 |
111,568,505 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8677:Mn1
|
UTSW |
5 |
111,566,885 (GRCm39) |
nonsense |
probably null |
|
|
R8990:Mn1
|
UTSW |
5 |
111,566,381 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9602:Mn1
|
UTSW |
5 |
111,565,449 (GRCm39) |
start gained |
probably benign |
|
|
R9603:Mn1
|
UTSW |
5 |
111,566,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF025:Mn1
|
UTSW |
5 |
111,567,571 (GRCm39) |
nonsense |
probably null |
|
|
RF027:Mn1
|
UTSW |
5 |
111,567,571 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Mn1
|
UTSW |
5 |
111,567,577 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Mn1
|
UTSW |
5 |
111,567,577 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Mn1
|
UTSW |
5 |
111,567,571 (GRCm39) |
small insertion |
probably benign |
|
|
Z1088:Mn1
|
UTSW |
5 |
111,566,146 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Mn1
|
UTSW |
5 |
111,602,572 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Mn1
|
UTSW |
5 |
111,568,245 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Mn1
|
UTSW |
5 |
111,567,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAACTTTGAGCGCGAAGG -3'
(R):5'- TGAACCGAATGGAAAGCCCG -3'
Sequencing Primer
(F):5'- GAGTGGCTTTGAGCAGC -3'
(R):5'- ATGGAAAGCCCGGCTGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation