Incidental Mutation 'RF028:Mn1'
ID 604228
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 # RF028 (G1)
Quality Score 206.502
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 CAGGAG 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

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik GCTGTG GCTGTGCCTCCTGTG 1: 82,891,299 (GRCm39) probably benign Het
A030005L19Rik TGTGGCTGC TGTGGCTGCCGTGGCTGC 1: 82,891,301 (GRCm39) probably benign Het
Acap3 TGCATCCTGGGCTGC TGCATCCTGGGCTGCAGCATCCTGGGCTGC 4: 155,989,548 (GRCm39) probably benign Het
Arid1b C CGGG 17: 5,045,873 (GRCm39) probably benign Het
Blm CCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT 7: 80,162,653 (GRCm39) probably null Het
Boc GAC G 16: 44,316,796 (GRCm39) probably null Het
Cacna1f GAG GAGAAG X: 7,486,299 (GRCm39) probably benign Het
Cacna1f GAG GAGAAG X: 7,486,302 (GRCm39) probably benign Het
Catsper2 ATCGCTTTCCTCGTTTTCG ATCG 2: 121,228,207 (GRCm39) probably benign Het
Dbr1 GAGGAG GAGGAGTAGGAG 9: 99,465,750 (GRCm39) probably null Het
E4f1 CGC CGCGGC 17: 24,674,164 (GRCm39) probably benign Het
Eps8 TCGCTC TCGCTCGCTC 6: 137,494,061 (GRCm39) probably benign Het
Ermn AACT AACTACT 2: 57,938,078 (GRCm39) probably benign Het
Fsip2 TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA TAGATGTGAAACTCTTAGAGGTAAGA 2: 82,824,352 (GRCm39) probably null Het
Gab3 CTTCTT CTTATTCTT X: 74,043,606 (GRCm39) probably null Het
Gab3 TCT TCTGCT X: 74,043,623 (GRCm39) probably benign Het
Gabre CTC CTCTGGGTC X: 71,314,369 (GRCm39) probably benign Het
Gm7579 GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG 7: 141,765,782 (GRCm39) probably benign Het
Gm8369 TG TGGGTGAG 19: 11,489,137 (GRCm39) probably null Het
Hsdl2 CAGCTGCAG CAGCTGCAGCAGCAGCCATAGCTGCAG 4: 59,610,650 (GRCm39) probably null Het
Iqcf4 TTTTCCTTTT TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT 9: 106,447,813 (GRCm39) probably benign Het
Kmt2e TTT TTTTATT 5: 23,683,507 (GRCm39) probably benign Het
Kri1 CTCCTCCT C 9: 21,192,367 (GRCm39) probably null Het
Krtap28-10 AGCCACAGCCACCACAGCCACAGCCACCAC AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC 1: 83,019,979 (GRCm39) probably benign Het
Lce1m GTTGCTGCCACTG GTTGCTGCCACTGTTGCTGCCACTG 3: 92,925,438 (GRCm39) probably benign Het
Loricrin CGCCGCCT C 3: 91,989,206 (GRCm39) probably null Het
Luzp1 A AGGTGGCCTCTTCAGG 4: 136,270,507 (GRCm39) probably benign Het
Lypd8 CCAACA CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA 11: 58,281,065 (GRCm39) probably benign Het
Nefh GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,012 (GRCm39) probably benign Het
Nefh GGGGACTTGGCCTCACCTGGGGACTTGGCCTC GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,029 (GRCm39) probably benign Het
Nf2 AAAAG A 11: 4,779,936 (GRCm39) probably null Het
Nusap1 AGAT AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT 2: 119,458,059 (GRCm39) probably benign Het
Nusap1 CAGTGAGGAGCAAGCTGAGA CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA 2: 119,458,072 (GRCm39) probably benign Het
Phf20 CCCCCC CCCCCCGCCCCC 2: 156,146,543 (GRCm39) probably benign Het
Ppp1r8 TCTCTCTCAC TC 4: 132,557,926 (GRCm39) probably benign Het
Prr5l GCCTC G 2: 101,627,918 (GRCm39) probably null Het
Rbm12 CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG CGG 2: 155,938,050 (GRCm39) probably null Het
Rpgrip1 GA GAGTA 14: 52,386,855 (GRCm39) probably null Het
Spmap2l AGCGATCCTCCCCAGTCCCGCAAGGCC AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC 5: 77,164,248 (GRCm39) probably benign Het
Tanc1 GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA G 2: 59,673,613 (GRCm39) probably benign Het
Tfeb GCA GCATCA 17: 48,097,022 (GRCm39) probably benign Het
Tgoln1 T TTGTCTTGTCAGAATCACCTCCTGG 6: 72,593,019 (GRCm39) probably benign Het
Tob1 CACA CACAACA 11: 94,105,277 (GRCm39) probably benign Het
Trappc9 GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,139 (GRCm39) probably benign Het
Triobp CAGGACT CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT 15: 78,851,239 (GRCm39) probably benign Het
Zfhx3 AACAGCAGC AACAGCAGCTACAGCAGC 8: 109,682,728 (GRCm39) probably benign Het
Zfp933 TT TTTGCCT 4: 147,910,188 (GRCm39) probably null 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
RF027:Mn1 UTSW 5 111,567,571 (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'- TTTTGACTTTCCGGGCAGCG -3'
(R):5'- CTCAAAGTTCGTCTGGGCCAAG -3'

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