Incidental Mutation 'IGL00160:Men1'
ID306572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Men1
Ensembl Gene ENSMUSG00000024947
Gene Namemultiple endocrine neoplasia 1
Synonymsmenin
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00160
Quality Score
Status
Chromosome19
Chromosomal Location6334979-6340891 bp(+) (GRCm38)
Type of Mutationintron (1593 bp from exon)
DNA Base Change (assembly) G to A at 6337207 bp
ZygosityHeterozygous
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] [ENSMUST00000130382] [ENSMUST00000142496] [ENSMUST00000152349] [ENSMUST00000166909] [ENSMUST00000170132]
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: ENSMUST00000123468
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 noncoding transcript
Transcript: ENSMUST00000127809
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 noncoding transcript
Transcript: ENSMUST00000133696
Predicted Effect probably benign
Transcript: ENSMUST00000142496
SMART Domains Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152259
Predicted Effect probably benign
Transcript: ENSMUST00000152349
SMART Domains Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 57 3.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156154
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 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 probably benign
Transcript: ENSMUST00000170292
SMART Domains Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 4 106 1.2e-28 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik T C 16: 92,321,002 K133E possibly damaging Het
4931406P16Rik G A 7: 34,239,006 H1035Y possibly damaging Het
4932414N04Rik C T 2: 68,732,875 A387V probably benign Het
Adamts3 C T 5: 89,861,325 V160I probably damaging Het
Arhgef26 T C 3: 62,340,383 V296A probably benign Het
Bdp1 A T 13: 100,061,198 M893K probably benign Het
Camk2d T A 3: 126,838,272 C407* probably null Het
Casc1 T A 6: 145,175,290 H601L probably benign Het
Ces1h T C 8: 93,357,463 D373G probably benign Het
Ces2f A T 8: 104,949,973 N100Y probably damaging Het
Ces2f A T 8: 104,949,972 Q99H probably damaging Het
Dlg5 T C 14: 24,191,161 T223A probably damaging Het
Dnmt3l A G 10: 78,057,355 D322G probably damaging Het
Fbxl20 C T 11: 98,090,674 G396D possibly damaging Het
Gldc T C 19: 30,115,240 T760A probably damaging Het
Gm6483 T A 8: 19,691,647 noncoding transcript Het
Hcrtr2 A T 9: 76,228,155 V460D possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Mrgpra2a A T 7: 47,426,538 M324K probably damaging Het
N4bp3 C T 11: 51,645,316 A230T probably benign Het
Nphs1 T G 7: 30,482,551 W1204G possibly damaging Het
Obscn C A 11: 59,002,057 A6788S probably benign Het
Ofcc1 T C 13: 40,142,804 D518G probably damaging Het
Optc T C 1: 133,902,108 Y188C probably damaging Het
Prss45 C A 9: 110,841,005 A285E probably damaging Het
Rcan2 C T 17: 44,037,069 T223I possibly damaging Het
Snrnp70 A G 7: 45,377,354 probably null Het
Sorbs1 T A 19: 40,318,029 T1064S probably damaging Het
Sptb T C 12: 76,623,169 K462E probably damaging Het
Sstr1 A G 12: 58,212,750 E53G probably benign Het
Stxbp2 A T 8: 3,636,354 probably null Het
Tex35 G A 1: 157,099,756 probably benign Het
Thnsl1 T C 2: 21,212,449 F338S possibly damaging Het
Trpv1 C T 11: 73,260,362 A424V probably damaging Het
Unc80 A T 1: 66,654,395 H2535L possibly damaging Het
Usp46 T C 5: 74,002,686 E333G probably null Het
Vmn1r27 T C 6: 58,215,134 Y245C probably benign Het
Zfp488 T C 14: 33,971,069 M46V probably benign Het
Zfp566 G T 7: 30,078,511 Q82K probably benign Het
Znhit6 T C 3: 145,578,160 S62P probably damaging Het
Znrf3 T C 11: 5,289,039 H108R probably damaging Het
Other mutations in Men1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Men1 APN 19 6337207 intron probably null
IGL00161:Men1 APN 19 6337207 intron probably null
IGL00229:Men1 APN 19 6337207 intron probably null
IGL00231:Men1 APN 19 6337207 intron probably null
IGL00232:Men1 APN 19 6337207 intron probably null
IGL00434:Men1 APN 19 6337207 intron probably null
IGL00467:Men1 APN 19 6337207 intron probably null
IGL00468:Men1 APN 19 6337207 intron probably null
IGL00470:Men1 APN 19 6337207 intron probably null
IGL00476:Men1 APN 19 6337207 intron probably null
IGL02305:Men1 APN 19 6340138 missense probably damaging 1.00
R0468:Men1 UTSW 19 6336923 missense probably null 0.99
R0856:Men1 UTSW 19 6335858 missense probably damaging 1.00
R1384:Men1 UTSW 19 6339891 missense probably benign 0.12
R1870:Men1 UTSW 19 6337630 missense probably damaging 1.00
R1987:Men1 UTSW 19 6338837 missense probably damaging 0.99
R2321:Men1 UTSW 19 6339838 missense possibly damaging 0.92
R4538:Men1 UTSW 19 6336754 missense possibly damaging 0.89
R4763:Men1 UTSW 19 6335072 critical splice donor site probably null
R6147:Men1 UTSW 19 6337242 missense probably damaging 0.97
R7598:Men1 UTSW 19 6339705 missense probably benign 0.06
R7726:Men1 UTSW 19 6337282 critical splice donor site probably null
RF002:Men1 UTSW 19 6340116 missense probably damaging 0.97
Posted On2015-04-16