Incidental Mutation 'IGL00229:Men1'
ID 306800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Men1
Ensembl Gene ENSMUSG00000024947
Gene Name multiple endocrine neoplasia 1
Synonyms menin
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00229
Quality Score
Status
Chromosome 19
Chromosomal Location 6334979-6340891 bp(+) (GRCm38)
Type of Mutation splice site (1593 bp from exon)
DNA Base Change (assembly) G to A at 6337207 bp (GRCm38)
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] [ENSMUST00000130382] [ENSMUST00000142496] [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: 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 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: ENSMUST00000149624
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,199,500 probably benign Het
9030624J02Rik T A 7: 118,804,191 probably benign Het
Abca4 A G 3: 122,170,954 T929A probably damaging Het
Adam6b G A 12: 113,491,393 R610H probably damaging Het
Adamts12 T A 15: 11,311,599 M1314K probably benign Het
Alg6 T A 4: 99,753,054 F152I probably damaging Het
Arid5b A G 10: 68,128,975 S289P probably damaging Het
Axin1 T C 17: 26,194,072 F780L probably damaging Het
C87499 A G 4: 88,629,053 I214T probably damaging Het
C9 C T 15: 6,483,231 S278L possibly damaging Het
Calr4 A T 4: 109,244,115 I65F probably damaging Het
Cdh23 A G 10: 60,523,548 V260A probably benign Het
Ddx25 T C 9: 35,543,595 probably benign Het
Dppa4 A G 16: 48,291,083 T92A possibly damaging Het
Ercc5 T C 1: 44,163,898 Y232H probably damaging Het
Exoc4 A G 6: 33,918,399 probably null Het
Fam149a A G 8: 45,351,786 V253A probably damaging Het
Fam209 C T 2: 172,474,182 T159I probably damaging Het
Gcfc2 A T 6: 81,936,015 N265I probably damaging Het
Glud1 T C 14: 34,336,130 V366A probably benign Het
Hdac10 T C 15: 89,128,442 T3A probably damaging Het
Ifnar1 T C 16: 91,489,782 S54P probably damaging Het
Itpr2 T C 6: 146,144,185 Y2561C probably damaging Het
Klhl30 A G 1: 91,354,157 E160G possibly damaging Het
Kmt2d A T 15: 98,862,333 S1015T unknown Het
Lactb2 A G 1: 13,660,374 M26T probably damaging Het
Lactbl1 A T 4: 136,631,051 D111V probably damaging Het
Lig4 T C 8: 9,972,775 Y335C probably damaging Het
Lrrc8e T A 8: 4,235,921 D715E probably benign Het
Med6 A T 12: 81,579,574 V142D possibly damaging Het
Mettl13 A G 1: 162,535,865 V600A possibly damaging Het
Mpdz A T 4: 81,310,224 C1314* probably null Het
Nbeal2 A G 9: 110,635,869 V1009A probably damaging Het
Nmur2 A G 11: 56,040,777 L36P probably damaging Het
Nudt2 T A 4: 41,480,474 L119Q probably damaging Het
Olfr1472 T C 19: 13,453,840 M226V possibly damaging Het
Osbpl3 C T 6: 50,323,068 E519K probably damaging Het
Pak6 A T 2: 118,689,845 T106S possibly damaging Het
Pggt1b T G 18: 46,280,719 Q34P probably benign Het
Phactr4 T C 4: 132,370,992 T322A possibly damaging Het
Plekhj1 T C 10: 80,796,602 probably null Het
Pnpt1 T C 11: 29,154,217 probably null Het
Prr14l T C 5: 32,830,676 I492V probably benign Het
Ranbp2 C A 10: 58,477,256 A1266E probably damaging Het
Riok3 G A 18: 12,137,020 D140N probably damaging Het
Rsph4a G A 10: 33,914,343 E643K probably damaging Het
Scara3 T G 14: 65,933,121 E103A probably benign Het
Sgk3 T C 1: 9,868,384 V33A probably damaging Het
Slc38a4 A G 15: 96,999,494 F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 V372M probably damaging Het
Slc9a2 A G 1: 40,767,737 Y728C probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Spidr A T 16: 15,895,578 L847Q probably damaging Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Syde1 A G 10: 78,585,809 V636A probably damaging Het
Syna A G 5: 134,559,717 L126P possibly damaging Het
Taar2 A G 10: 23,941,368 T269A possibly damaging Het
Tapbp C T 17: 33,925,704 T258I probably damaging Het
Tcf20 T A 15: 82,857,142 Q36L possibly damaging Het
Tmem131l A T 3: 83,942,500 M260K probably damaging Het
Tnc T A 4: 64,016,824 probably benign Het
Ugp2 T A 11: 21,354,345 E27D probably benign Het
Wdr27 A T 17: 14,928,310 C140* probably null Het
Wnt2b T C 3: 104,953,133 T153A possibly damaging Het
Xirp2 A T 2: 67,513,375 T1987S probably benign Het
Zfp36l1 C A 12: 80,110,464 G48C probably damaging Het
Zfp474 A T 18: 52,638,493 I73F possibly damaging Het
Zfp790 T A 7: 29,828,563 F224L probably benign Het
Other mutations in Men1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Men1 APN 19 6337207 splice site probably null
IGL00160:Men1 APN 19 6337207 splice site probably null
IGL00161:Men1 APN 19 6337207 splice site probably null
IGL00231:Men1 APN 19 6337207 splice site probably null
IGL00232:Men1 APN 19 6337207 splice site probably null
IGL00434:Men1 APN 19 6337207 splice site probably null
IGL00467:Men1 APN 19 6337207 splice site probably null
IGL00468:Men1 APN 19 6337207 splice site probably null
IGL00470:Men1 APN 19 6337207 splice site probably null
IGL00476:Men1 APN 19 6337207 splice site 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
R7949:Men1 UTSW 19 6338293 missense possibly damaging 0.80
R8283:Men1 UTSW 19 6336818 missense probably damaging 1.00
R8290:Men1 UTSW 19 6338286 missense probably benign 0.09
R8998:Men1 UTSW 19 6339930 missense probably benign 0.03
R8999:Men1 UTSW 19 6339930 missense probably benign 0.03
RF002:Men1 UTSW 19 6340116 missense probably damaging 0.97
Posted On 2015-04-16