Incidental Mutation 'IGL00470:Men1'
ID 332171
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Men1
Ensembl Gene ENSMUSG00000024947
Gene Name multiple endocrine neoplasia 1
Synonyms menin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00470
Quality Score
Status
Chromosome 19
Chromosomal Location 6385009-6390921 bp(+) (GRCm39)
Type of Mutation splice site (1593 bp from exon)
DNA Base Change (assembly) G to A at 6387237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000113502] [ENSMUST00000113503] [ENSMUST00000113504] [ENSMUST00000124556] [ENSMUST00000142496] [ENSMUST00000130382] [ENSMUST00000170132] [ENSMUST00000166909] [ENSMUST00000152349]
AlphaFold O88559
Predicted Effect probably benign
Transcript: ENSMUST00000025897
SMART Domains Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
S_TKc 16 273 2.41e-90 SMART
low complexity region 358 369 N/A INTRINSIC
low complexity region 425 444 N/A INTRINSIC
CNH 488 801 1.31e-128 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000056391
AA Change: A237T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058149
Gene: ENSMUSG00000024947
AA Change: A237T

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000078137
AA Change: A237T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947
AA Change: A237T

DomainStartEndE-ValueType
Pfam:Menin 1 396 2.6e-241 PFAM
Pfam:Menin 392 556 1.5e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079327
AA Change: A237T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078306
Gene: ENSMUSG00000024947
AA Change: A237T

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113500
AA Change: A237T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947
AA Change: A237T

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113501
AA Change: A202T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947
AA Change: A202T

DomainStartEndE-ValueType
Pfam:Menin 1 183 2.6e-104 PFAM
Pfam:Menin 184 576 3.2e-213 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113502
AA Change: A243T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947
AA Change: A243T

DomainStartEndE-ValueType
Pfam:Menin 7 515 1.5e-254 PFAM
Pfam:Menin 536 615 4.9e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113503
AA Change: A242T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947
AA Change: A242T

DomainStartEndE-ValueType
Pfam:Menin 1 616 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113504
AA Change: A237T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947
AA Change: A237T

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124333
Predicted Effect probably benign
Transcript: ENSMUST00000124556
SMART Domains Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142496
SMART Domains Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130382
SMART Domains Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
S_TKc 16 233 3.4e-14 SMART
low complexity region 314 325 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170132
AA Change: A27T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126655
Gene: ENSMUSG00000024947
AA Change: A27T

DomainStartEndE-ValueType
Pfam:Menin 1 135 1.6e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155569
Predicted Effect probably null
Transcript: ENSMUST00000166909
SMART Domains Protein: ENSMUSP00000133085
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 62 8.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170292
SMART Domains Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 4 106 1.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152349
SMART Domains Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 57 3.7e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted null mutations die at embryonic day 11.5-13.5 with reduced size, edema, open neural tube and defects of the nervous system, heart and liver. Heterozygotes develop tumors of the pancreas, parathyroid, thyroid, adrenal and pituitary. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732463B04Rik G T 12: 84,090,578 (GRCm39) probably benign Het
Abcd1 T C X: 72,761,154 (GRCm39) L173P probably damaging Het
Adam18 T A 8: 25,118,149 (GRCm39) D41V probably damaging Het
Armh4 A T 14: 50,010,460 (GRCm39) S416T probably damaging Het
Aspa T G 11: 73,204,447 (GRCm39) probably benign Het
Cacna2d1 T A 5: 16,451,654 (GRCm39) probably benign Het
Cracd G A 5: 77,013,903 (GRCm39) probably benign Het
Cubn T A 2: 13,283,229 (GRCm39) I3570L probably benign Het
Cyp2j13 G A 4: 95,950,275 (GRCm39) P242L probably damaging Het
Cysrt1 T C 2: 25,129,513 (GRCm39) probably benign Het
Dchs1 A T 7: 105,407,414 (GRCm39) L2100H probably damaging Het
Ddb1 G A 19: 10,589,028 (GRCm39) A229T possibly damaging Het
Dst A T 1: 34,228,043 (GRCm39) I1554F probably damaging Het
Dvl3 C T 16: 20,349,689 (GRCm39) P554L probably damaging Het
Fcgbp C A 7: 27,774,511 (GRCm39) C28* probably null Het
Gm773 T C X: 55,247,373 (GRCm39) D53G probably benign Het
Hhat A G 1: 192,399,325 (GRCm39) Y272H probably damaging Het
Inpp5k T C 11: 75,536,351 (GRCm39) S310P probably benign Het
Kat2a G A 11: 100,596,210 (GRCm39) R782W probably damaging Het
Kcnh5 T C 12: 74,944,570 (GRCm39) D893G probably benign Het
Lama2 T C 10: 27,119,738 (GRCm39) T709A probably benign Het
Mcm8 G A 2: 132,669,457 (GRCm39) V281I probably benign Het
Nup133 T G 8: 124,665,822 (GRCm39) D201A probably damaging Het
Oxct2a A G 4: 123,217,183 (GRCm39) L66P possibly damaging Het
Pcbp2 C T 15: 102,399,148 (GRCm39) A224V probably damaging Het
Phf8-ps T A 17: 33,284,837 (GRCm39) H655L probably benign Het
Pla2g4e G A 2: 120,015,719 (GRCm39) S275F probably benign Het
Pxk T C 14: 8,130,754 (GRCm38) F118L probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Sphkap A G 1: 83,255,631 (GRCm39) M706T possibly damaging Het
Tars3 T C 7: 65,338,656 (GRCm39) M689T probably benign Het
Trrap T C 5: 144,754,848 (GRCm39) V2008A probably damaging Het
Txndc2 A T 17: 65,945,569 (GRCm39) S203T probably benign Het
Txnrd1 T G 10: 82,711,496 (GRCm39) D42E probably damaging Het
Zswim8 G A 14: 20,773,249 (GRCm39) D1746N probably damaging Het
Other mutations in Men1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL00160:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL00161:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL00229:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL00231:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL00232:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL00434:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL00467:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL00468:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL00476:Men1 APN 19 6,387,237 (GRCm39) splice site probably null
IGL02305:Men1 APN 19 6,390,168 (GRCm39) missense probably damaging 1.00
R0468:Men1 UTSW 19 6,386,953 (GRCm39) missense probably null 0.99
R0856:Men1 UTSW 19 6,385,888 (GRCm39) missense probably damaging 1.00
R1384:Men1 UTSW 19 6,389,921 (GRCm39) missense probably benign 0.12
R1870:Men1 UTSW 19 6,387,660 (GRCm39) missense probably damaging 1.00
R1987:Men1 UTSW 19 6,388,867 (GRCm39) missense probably damaging 0.99
R2321:Men1 UTSW 19 6,389,868 (GRCm39) missense possibly damaging 0.92
R4538:Men1 UTSW 19 6,386,784 (GRCm39) missense possibly damaging 0.89
R4763:Men1 UTSW 19 6,385,102 (GRCm39) critical splice donor site probably null
R6147:Men1 UTSW 19 6,387,272 (GRCm39) missense probably damaging 0.97
R7598:Men1 UTSW 19 6,389,735 (GRCm39) missense probably benign 0.06
R7726:Men1 UTSW 19 6,387,312 (GRCm39) critical splice donor site probably null
R7949:Men1 UTSW 19 6,388,323 (GRCm39) missense possibly damaging 0.80
R8283:Men1 UTSW 19 6,386,848 (GRCm39) missense probably damaging 1.00
R8290:Men1 UTSW 19 6,388,316 (GRCm39) missense probably benign 0.09
R8998:Men1 UTSW 19 6,389,960 (GRCm39) missense probably benign 0.03
R8999:Men1 UTSW 19 6,389,960 (GRCm39) missense probably benign 0.03
RF002:Men1 UTSW 19 6,390,146 (GRCm39) missense probably damaging 0.97
Posted On 2015-08-05