Mutagenetix > Incidental Mutation

Incidental Mutation 'R0856:Men1'

82735

Institutional Source

Beutler Lab

Gene Symbol

Men1

Ensembl Gene

ENSMUSG00000024947

Gene Name

multiple endocrine neoplasia 1

Synonyms

menin

MMRRC Submission

039035-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6385009-6390921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6385888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 133 (Y133C)

Ref Sequence

ENSEMBL: ENSMUSP00000109132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000113502] [ENSMUST00000113503] [ENSMUST00000113504] [ENSMUST00000166909] [ENSMUST00000170132]

AlphaFold

O88559

Predicted Effect

probably damaging
Transcript: ENSMUST00000056391
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058149
Gene: ENSMUSG00000024947
AA Change: Y133C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000078137
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947
AA Change: Y133C

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: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078306
Gene: ENSMUSG00000024947
AA Change: Y133C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113500
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947
AA Change: Y133C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113501
AA Change: Y133C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947
AA Change: Y133C

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: Y139C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947
AA Change: Y139C

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: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947
AA Change: Y133C

Domain	Start	End	E-Value	Type
Pfam:Menin	1	616	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113504
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947
AA Change: Y133C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156154

Predicted Effect

probably benign
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: ENSMUST00000170132

SMART Domains

Protein: ENSMUSP00000126655
Gene: ENSMUSG00000024947

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

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.6%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,154,262 (GRCm39)	S101R	probably benign	Het
Arhgap32	C	A	9: 32,171,516 (GRCm39)	P1432Q	probably damaging	Het
Atp7b	A	G	8: 22,487,647 (GRCm39)	V1134A	probably damaging	Het
Crtc3	A	T	7: 80,245,372 (GRCm39)	Y418N	probably damaging	Het
Cts8	A	T	13: 61,398,730 (GRCm39)	Y259N	probably damaging	Het
Defb39	T	A	8: 19,102,982 (GRCm39)	T38S	possibly damaging	Het
Depdc7	A	G	2: 104,558,437 (GRCm39)	S195P	probably benign	Het
Gykl1	T	A	18: 52,828,441 (GRCm39)	*550K	probably null	Het
Kcnip4	A	G	5: 48,576,552 (GRCm39)		probably null	Het
Kif20a	T	C	18: 34,764,271 (GRCm39)	S666P	probably benign	Het
Klhl32	T	C	4: 24,682,092 (GRCm39)	D197G	probably damaging	Het
Mtnr1a	A	G	8: 45,540,870 (GRCm39)	E277G	possibly damaging	Het
Numa1	C	A	7: 101,648,155 (GRCm39)	Q629K	probably damaging	Het
Or2a52	T	C	6: 43,144,345 (GRCm39)	S118P	probably damaging	Het
P3h3	G	T	6: 124,831,896 (GRCm39)	D296E	probably benign	Het
Prl7c1	A	G	13: 27,957,717 (GRCm39)	I241T	possibly damaging	Het
Prr35	T	C	17: 26,167,001 (GRCm39)	S179G	probably benign	Het
Rp1	T	C	1: 4,414,878 (GRCm39)	E2078G	probably benign	Het
Septin8	A	G	11: 53,428,697 (GRCm39)	H414R	probably benign	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Upf2	A	G	2: 5,962,463 (GRCm39)	D55G	unknown	Het
Vit	G	T	17: 78,927,086 (GRCm39)	V344L	possibly damaging	Het
Vps26a	A	C	10: 62,304,189 (GRCm39)	V176G	possibly 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
IGL00470: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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGCATTTCCTGGCTGTCAAC -3'
(R):5'- GCGAAGGAGAAATAATACCTGCCCC -3'

Sequencing Primer
(F):5'- GGCTGTCAACCGTGTCATC -3'
(R):5'- aataatacctgccccaccac -3'

Posted On

2013-11-08