Incidental Mutation 'RF027:Mn1'
ID 604187
Institutional Source Beutler Lab
Gene Symbol Mn1
Ensembl Gene ENSMUSG00000070576
Gene Name meningioma 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF027 (G1)
Quality Score 181.47
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 111567571 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

DomainStartEndE-ValueType
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: 99.4%
  • 20x: 98.7%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm CCTCCTCCTCCTC CCTCCTCCTCCTCTCCTCCTCCTC 7: 80,162,662 (GRCm39) probably null Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Ccdc170 ACC ACCTCC 10: 4,511,026 (GRCm39) probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r4 AGACACACTGCCCAGG AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG 9: 86,922,484 (GRCm39) probably benign Het
Dmkn GTGGA GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA 7: 30,466,619 (GRCm39) probably benign Het
Dnaaf9 CTC CTCGTC 2: 130,612,664 (GRCm39) probably benign Het
Dnah8 CCCTCCCG C 17: 30,854,450 (GRCm39) probably null Het
Fam171b AGCAGC AGCAGCTGCAGC 2: 83,643,220 (GRCm39) probably benign Het
Flywch1 TCACTCACCCACTCCTGGTGT TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT 17: 23,981,132 (GRCm39) probably null Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Kri1 CTCCTCCT C 9: 21,192,364 (GRCm39) probably null Het
Krtap28-10 CACAGC CACAGCCACAGCCACAACAGC 1: 83,020,006 (GRCm39) probably benign Het
Loricrin ATAGCCG A 3: 91,989,183 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Mnd1 G A 3: 84,041,366 (GRCm39) L79F possibly damaging Het
Nolc1 AGCAGCAGC AGCAGCAGCGGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Pdcd11 GGAGGAG GG 19: 47,101,888 (GRCm39) probably null Het
Rbfox2 G T 15: 77,016,973 (GRCm39) Q134K possibly damaging Het
Tcof1 AGC AGCTGC 18: 60,968,808 (GRCm39) probably benign Het
Tent4a GACA G 13: 69,681,973 (GRCm39) probably benign Het
Ttf2 TTCT TTCTTCT 3: 100,870,473 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Zfhx3 CAGCAGCA CAGCAGCAAGAGCAGCA 8: 109,682,730 (GRCm39) probably benign Het
Zfp384 CCCAGGC CCCAGGCCCAGGACCAGGC 6: 125,013,453 (GRCm39) probably benign Het
Other mutations in Mn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTTTGACTTTCCGGGCAGC -3'
(R):5'- AAAGTTCGTCTGGGCCAAG -3'

Sequencing Primer
(F):5'- GCAGCATGCATAACGGTA -3'
(R):5'- AACCTCCGTGGACCAGG -3'
Posted On 2019-12-04