Incidental Mutation 'R7206:Mn1'
ID 560611
Institutional Source Beutler Lab
Gene Symbol Mn1
Ensembl Gene ENSMUSG00000070576
Gene Name meningioma 1
Synonyms
MMRRC Submission 045284-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7206 (G1)
Quality Score 193.009
Status Validated
Chromosome 5
Chromosomal Location 111565228-111604899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111568378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 783 (K783E)
Ref Sequence ENSEMBL: ENSMUSP00000092034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094463]
AlphaFold D3YWE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000094463
AA Change: K783E

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092034
Gene: ENSMUSG00000070576
AA Change: K783E

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
Meta Mutation Damage Score 0.1487 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (87/88)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 G A 3: 59,932,662 (GRCm39) M392I probably benign Het
Aadacl4fm2 T A 4: 144,285,211 (GRCm39) D142V probably damaging Het
Acr T C 15: 89,458,374 (GRCm39) S352P probably benign Het
Adam6a T C 12: 113,509,654 (GRCm39) C676R probably damaging Het
Adgra3 T C 5: 50,164,238 (GRCm39) D247G probably damaging Het
Agxt2 A T 15: 10,377,542 (GRCm39) E147D probably damaging Het
Atp2a1 T C 7: 126,047,144 (GRCm39) T805A probably benign Het
Atp8b4 T C 2: 126,300,212 (GRCm39) S106G probably damaging Het
Ccdc170 T A 10: 4,464,120 (GRCm39) M87K possibly damaging Het
Ccnl2 T G 4: 155,905,431 (GRCm39) V287G possibly damaging Het
Ccr6 A T 17: 8,475,781 (GRCm39) M329L probably benign Het
Cflar G T 1: 58,780,150 (GRCm39) M248I Het
Cib4 A T 5: 30,703,110 (GRCm39) L5* probably null Het
Col27a1 A T 4: 63,153,583 (GRCm39) Y645F probably benign Het
Cxcr2 A G 1: 74,198,213 (GRCm39) T236A possibly damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah7a A T 1: 53,737,792 (GRCm39) L47* probably null Het
Dnajb6 A C 5: 29,986,335 (GRCm39) K301T possibly damaging Het
Dpf2 T A 19: 5,954,571 (GRCm39) I157F possibly damaging Het
Drd4 G A 7: 140,872,032 (GRCm39) G28R probably damaging Het
Dus3l A T 17: 57,074,807 (GRCm39) I310F probably damaging Het
Dusp29 A G 14: 21,727,102 (GRCm39) V182A probably damaging Het
Eef1akmt3 A G 10: 126,876,862 (GRCm39) L95P probably damaging Het
Fabp7 C T 10: 57,661,087 (GRCm39) probably benign Het
Fam135a T C 1: 24,069,354 (GRCm39) N505S probably benign Het
Fam216b C A 14: 78,322,567 (GRCm39) D46Y probably damaging Het
Gata6 C T 18: 11,054,850 (GRCm39) R260C probably damaging Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Golgb1 A G 16: 36,734,111 (GRCm39) I1160M probably benign Het
Hjv A T 3: 96,435,444 (GRCm39) D234V probably damaging Het
Kiss1 A G 1: 133,255,063 (GRCm39) K26E probably benign Het
Knl1 T A 2: 118,899,780 (GRCm39) F494I probably benign Het
Ktn1 T C 14: 47,932,985 (GRCm39) L713S probably damaging Het
Loxhd1 A G 18: 77,529,513 (GRCm39) D2052G probably damaging Het
Lpo A C 11: 87,698,249 (GRCm39) L582R probably damaging Het
Map2k3 A G 11: 60,834,406 (GRCm39) T125A Het
Matn3 T A 12: 9,011,170 (GRCm39) N360K probably benign Het
Mlip A T 9: 77,072,144 (GRCm39) V237E probably damaging Het
Mms22l T C 4: 24,591,146 (GRCm39) V999A probably benign Het
Myo1h A T 5: 114,457,836 (GRCm39) K132* probably null Het
Nle1 A G 11: 82,795,757 (GRCm39) V230A probably benign Het
Or1ak2 T A 2: 36,827,784 (GRCm39) Y218N probably damaging Het
Or1e1b-ps1 A T 11: 73,845,647 (GRCm39) I44F probably benign Het
Or4a68 T C 2: 89,270,801 (GRCm39) probably benign Het
Or4f62 T G 2: 111,986,804 (GRCm39) C169W probably damaging Het
Or51f23 T C 7: 102,452,891 (GRCm39) S69P probably damaging Het
Or7e169 C T 9: 19,757,856 (GRCm39) D20N probably damaging Het
Ormdl2 T A 10: 128,656,284 (GRCm39) H7L possibly damaging Het
Pam A G 1: 97,823,757 (GRCm39) S225P probably damaging Het
Pan2 C A 10: 128,150,414 (GRCm39) Y719* probably null Het
Ppfia4 T C 1: 134,255,127 (GRCm39) S243G probably benign Het
Ppig T G 2: 69,571,910 (GRCm39) S210A unknown Het
Ppwd1 A T 13: 104,350,106 (GRCm39) N426K probably damaging Het
Prxl2a T A 14: 40,726,142 (GRCm39) M12L probably benign Het
Rnf10 T G 5: 115,382,180 (GRCm39) D675A probably benign Het
Rrp12 A T 19: 41,866,478 (GRCm39) L619H probably damaging Het
Rsph10b C T 5: 143,898,010 (GRCm39) T497I possibly damaging Het
Scnm1 A T 3: 95,041,205 (GRCm39) M1K probably null Het
Scp2 G T 4: 107,931,638 (GRCm39) D332E probably benign Het
Senp3 T C 11: 69,569,557 (GRCm39) I314V probably benign Het
Sfmbt1 T A 14: 30,533,330 (GRCm39) probably null Het
Slc44a2 T C 9: 21,258,103 (GRCm39) F451S probably damaging Het
Slfn1 A T 11: 83,012,837 (GRCm39) M318L probably benign Het
Syne2 C T 12: 76,051,531 (GRCm39) S4087L probably benign Het
Syt7 A G 19: 10,395,337 (GRCm39) Y49C probably damaging Het
Tas2r134 T C 2: 51,518,120 (GRCm39) Y200H probably benign Het
Tgfbr1 A T 4: 47,402,941 (GRCm39) H315L probably damaging Het
Tmem184c A G 8: 78,323,206 (GRCm39) V552A possibly damaging Het
Tnxb A G 17: 34,923,075 (GRCm39) R2553G possibly damaging Het
Tomm40 C G 7: 19,444,861 (GRCm39) R173S probably benign Het
Tonsl T C 15: 76,517,851 (GRCm39) D650G probably damaging Het
Tpo G C 12: 30,153,133 (GRCm39) S407W possibly damaging Het
Trank1 T C 9: 111,174,583 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,378 (GRCm39) E99G probably damaging Het
Tubb2a C A 13: 34,259,505 (GRCm39) S95I possibly damaging Het
Vav2 C A 2: 27,226,731 (GRCm39) R114L probably benign Het
Vmn1r172 A T 7: 23,359,582 (GRCm39) I156L possibly damaging Het
Vmn1r238 A G 18: 3,122,623 (GRCm39) Y264H possibly damaging Het
Vmn2r26 T A 6: 124,016,727 (GRCm39) M397K probably benign Het
Vmn2r73 T C 7: 85,522,075 (GRCm39) N88S probably benign Het
Vps13a T C 19: 16,731,662 (GRCm39) N150S probably damaging Het
Vps35 A T 8: 86,014,350 (GRCm39) Y100N probably damaging Het
Vps8 A C 16: 21,276,171 (GRCm39) I235L probably damaging Het
Yipf2 T A 9: 21,501,657 (GRCm39) H157L probably damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp503 G T 14: 22,035,553 (GRCm39) S454R possibly damaging Het
Zfp619 C T 7: 39,184,824 (GRCm39) R285C 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
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'- TCTTTGCAGGAGCCTCTGAG -3'
(R):5'- TTACCCGACGTTGATTCCAG -3'

Sequencing Primer
(F):5'- TGTGGGACTGCCAAACG -3'
(R):5'- CCGACGTTGATTCCAGGGTATAATTG -3'
Posted On 2019-06-26