Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:Men1'

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

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] [ENSMUST00000152349] [ENSMUST00000124556] [ENSMUST00000142496] [ENSMUST00000130382] [ENSMUST00000170132] [ENSMUST00000166909]

AlphaFold

O88559

Predicted Effect

probably benign
Transcript: ENSMUST00000025897

SMART Domains

Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Menin	1	611	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152259

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

noncoding transcript
Transcript: ENSMUST00000155569

Predicted Effect

probably benign
Transcript: ENSMUST00000152349

SMART Domains

Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:Pkinase	16	57	3.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124556

SMART Domains

Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:Pkinase	16	56	4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142496

SMART Domains

Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:Pkinase	16	56	4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130382

SMART Domains

Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Menin	1	135	1.6e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156154

Predicted Effect

probably null
Transcript: ENSMUST00000166909

SMART Domains

Protein: ENSMUSP00000133085
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	62	8.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170292

SMART Domains

Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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