Incidental Mutation 'RF032:Mn1'
| ID |
604408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mn1
|
| Ensembl Gene |
ENSMUSG00000070576 |
| Gene Name |
meningioma 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF032 (G1)
|
| Quality Score |
199.47 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
111565228-111604899 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CAG to CAGAAG
at 111567577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094463]
|
| AlphaFold |
D3YWE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094463
|
| SMART Domains |
Protein: ENSMUSP00000092034
Gene: ENSMUSG00000070576
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
TACCT |
TACCTGACCT |
17: 24,506,701 (GRCm39) |
|
probably null |
Het |
| Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,989,559 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGTCG |
17: 5,045,863 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,162,678 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,302 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCCGTGG |
19: 47,129,722 (GRCm39) |
|
probably null |
Het |
| Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,560,341 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,466,607 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,602,083 (GRCm39) |
|
probably benign |
Het |
| Enah |
TGGCGGTGG |
TG |
1: 181,749,494 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| H2-T10 |
TTTCCCACTGTA |
T |
17: 36,431,186 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,562,723 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,530,501 (GRCm39) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCACCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
G |
GGAGA |
6: 139,612,656 (GRCm39) |
|
probably null |
Het |
| Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,551,598 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
| Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 124,996,130 (GRCm39) |
|
probably benign |
Het |
| Smpx |
CCCCCCA |
C |
X: 156,503,919 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,635,087 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,851,236 (GRCm39) |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 115,016,069 (GRCm39) |
L320F |
probably damaging |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
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 |
|
R4008:Mn1
|
UTSW |
5 |
111,568,035 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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'- TTTTGACTTTCCGGGCAGC -3'
(R):5'- AAAGTTCGTCTGGGCCAAG -3'
Sequencing Primer
(F):5'- TGCATAACGGTACCCTAG -3'
(R):5'- AACCTCCGTGGACCAGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation