Incidental Mutation 'R5633:Mn1'
ID 501915
Institutional Source Beutler Lab
Gene Symbol Mn1
Ensembl Gene ENSMUSG00000070576
Gene Name meningioma 1
Synonyms
MMRRC Submission 043284-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5633 (G1)
Quality Score 37
Status Validated
Chromosome 5
Chromosomal Location 111565228-111604899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111568192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 721 (F721L)
Ref Sequence ENSEMBL: ENSMUSP00000092034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094463]
AlphaFold D3YWE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000094463
AA Change: F721L

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092034
Gene: ENSMUSG00000070576
AA Change: F721L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196957
Meta Mutation Damage Score 0.0994 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,344,598 (GRCm39) C125S probably benign Het
Abcb8 T C 5: 24,608,107 (GRCm39) L382P probably damaging Het
Acot3 A G 12: 84,105,724 (GRCm39) probably null Het
Acsl6 A T 11: 54,228,015 (GRCm39) Q345L probably benign Het
Adcy8 A G 15: 64,571,134 (GRCm39) S1170P probably damaging Het
Ankrd28 T G 14: 31,457,022 (GRCm39) D182A probably damaging Het
B3galt5 A T 16: 96,116,709 (GRCm39) H114L probably benign Het
Bcas2 T A 3: 103,085,740 (GRCm39) Y207* probably null Het
Best1 A G 19: 9,969,467 (GRCm39) L197P probably benign Het
Chil6 C A 3: 106,296,068 (GRCm39) C389F probably damaging Het
Chrna4 T C 2: 180,671,253 (GRCm39) T168A probably damaging Het
Ckmt1 C G 2: 121,194,110 (GRCm39) probably benign Het
Dhcr7 T C 7: 143,401,160 (GRCm39) L441P probably damaging Het
Dmtn T C 14: 70,842,419 (GRCm39) M365V probably benign Het
Dmxl1 T A 18: 50,010,764 (GRCm39) S974T probably damaging Het
Dnajb13 T C 7: 100,156,626 (GRCm39) D150G probably benign Het
Eef2k C A 7: 120,472,513 (GRCm39) probably benign Het
Elp2 T A 18: 24,748,267 (GRCm39) V213E probably damaging Het
Fbxo43 A T 15: 36,162,241 (GRCm39) probably null Het
Gm11559 C A 11: 99,755,412 (GRCm39) C20* probably null Het
Gnb2 T C 5: 137,527,454 (GRCm39) I213V probably benign Het
Gnb5 C T 9: 75,251,796 (GRCm39) T306I probably damaging Het
Ica1 A T 6: 8,667,257 (GRCm39) I303N possibly damaging Het
Idh1 A G 1: 65,204,295 (GRCm39) Y272H probably damaging Het
Ikzf2 G A 1: 69,578,256 (GRCm39) Q273* probably null Het
Itpkb A T 1: 180,154,790 (GRCm39) ⇒1 probably benign Het
Kntc1 C T 5: 123,957,120 (GRCm39) T2143I probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lmbrd1 C A 1: 24,787,943 (GRCm39) D464E possibly damaging Het
Med13 A G 11: 86,169,757 (GRCm39) probably benign Het
Myo9a T A 9: 59,775,467 (GRCm39) L1026Q possibly damaging Het
Or6c204 A T 10: 129,022,718 (GRCm39) F191I probably benign Het
P4htm A C 9: 108,456,922 (GRCm39) D428E probably damaging Het
Parp8 C T 13: 117,013,116 (GRCm39) R602H probably damaging Het
Pkd2 T A 5: 104,646,372 (GRCm39) S726R probably damaging Het
Pla2g6 A T 15: 79,183,342 (GRCm39) I495N possibly damaging Het
Psmd5 A G 2: 34,746,500 (GRCm39) I359T probably benign Het
Rassf6 T C 5: 90,751,977 (GRCm39) H292R possibly damaging Het
Rnf145 T C 11: 44,450,915 (GRCm39) I413T probably damaging Het
Rpn2 T A 2: 157,125,516 (GRCm39) V9D possibly damaging Het
Rpp30 T C 19: 36,064,390 (GRCm39) L57P probably damaging Het
Slc41a1 A G 1: 131,774,325 (GRCm39) H464R possibly damaging Het
Slc47a1 G T 11: 61,260,087 (GRCm39) P163Q probably damaging Het
Smc4 T A 3: 68,915,443 (GRCm39) I165K probably damaging Het
Stra6l T A 4: 45,881,455 (GRCm39) I439K probably benign Het
Syt9 C T 7: 107,024,503 (GRCm39) T132I probably damaging Het
Timd6 C T 11: 46,465,433 (GRCm39) S9L unknown Het
Trpm2 T C 10: 77,774,187 (GRCm39) I471V possibly damaging Het
Uap1l1 A G 2: 25,253,361 (GRCm39) M358T probably benign Het
Vmn1r91 A T 7: 19,835,870 (GRCm39) H263L possibly damaging Het
Zfp407 T C 18: 84,579,169 (GRCm39) D648G probably benign Het
Zpbp2 T C 11: 98,445,584 (GRCm39) I150T probably damaging 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
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'- TTTCCGAGGCTCTTTGCAG -3'
(R):5'- GCTTGTTGAAAGACCCCAAC -3'

Sequencing Primer
(F):5'- CTCTTTGCAGGAGCCTCTGAG -3'
(R):5'- AGCTTACTGGCCGAGTTGC -3'
Posted On 2017-12-15