Mutagenetix > Incidental Mutation

Incidental Mutation 'R4538:Men1'

333428

Institutional Source

Beutler Lab

Gene Symbol

Men1

Ensembl Gene

ENSMUSG00000024947

Gene Name

multiple endocrine neoplasia 1

Synonyms

menin

MMRRC Submission

041775-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6385009-6390921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6386784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 159 (F159L)

Ref Sequence

ENSEMBL: ENSMUSP00000109132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000113502] [ENSMUST00000113503] [ENSMUST00000113504] [ENSMUST00000130382] [ENSMUST00000152349] [ENSMUST00000124556] [ENSMUST00000142496] [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

possibly damaging
Transcript: ENSMUST00000056391
AA Change: F159L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058149
Gene: ENSMUSG00000024947
AA Change: F159L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078137
AA Change: F159L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947
AA Change: F159L

Domain	Start	End	E-Value	Type
Pfam:Menin	1	396	2.6e-241	PFAM
Pfam:Menin	392	556	1.5e-62	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079327
AA Change: F159L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078306
Gene: ENSMUSG00000024947
AA Change: F159L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113500
AA Change: F159L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947
AA Change: F159L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113501
AA Change: F159L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947
AA Change: F159L

Domain	Start	End	E-Value	Type
Pfam:Menin	1	183	2.6e-104	PFAM
Pfam:Menin	184	576	3.2e-213	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113502
AA Change: F165L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947
AA Change: F165L

Domain	Start	End	E-Value	Type
Pfam:Menin	7	515	1.5e-254	PFAM
Pfam:Menin	536	615	4.9e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113503
AA Change: F164L

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947
AA Change: F164L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113504
AA Change: F159L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947
AA Change: F159L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127809

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 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: ENSMUST00000170292

SMART Domains

Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	4	106	1.2e-28	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: ENSMUST00000166909

SMART Domains

Protein: ENSMUSP00000133085
Gene: ENSMUSG00000024947

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

Meta Mutation Damage Score

0.3128

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (36/37)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	G	A	12: 107,455,096 (GRCm39)	V61M	unknown	Het
Abcc9	A	G	6: 142,560,138 (GRCm39)		probably null	Het
Adcy10	A	T	1: 165,340,696 (GRCm39)	M234L	probably benign	Het
B4galt3	T	C	1: 171,100,280 (GRCm39)	F150S	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Chd4	A	T	6: 125,097,649 (GRCm39)	D1377V	probably damaging	Het
Cope	T	A	8: 70,759,157 (GRCm39)	I16N	probably damaging	Het
Cpd	A	T	11: 76,681,825 (GRCm39)	N1140K	probably benign	Het
Cyp7b1	A	T	3: 18,151,745 (GRCm39)	I156N	possibly damaging	Het
Depdc5	T	C	5: 33,141,290 (GRCm39)	Y1397H	probably damaging	Het
Dnajc13	CT	C	9: 104,064,004 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,798,822 (GRCm39)	D289E	probably benign	Het
Egflam	T	C	15: 7,281,918 (GRCm39)	Y406C	probably damaging	Het
Hfm1	T	C	5: 107,022,756 (GRCm39)	T949A	possibly damaging	Het
Ifih1	A	G	2: 62,447,756 (GRCm39)	V316A	probably damaging	Het
Kif1a	C	T	1: 93,004,769 (GRCm39)	V142M	probably damaging	Het
Kng2	C	A	16: 22,806,813 (GRCm39)	R462L	probably benign	Het
Lrrn1	T	A	6: 107,545,598 (GRCm39)	N465K	probably benign	Het
Mdn1	T	A	4: 32,722,334 (GRCm39)	L2372Q	probably damaging	Het
Mul1	T	C	4: 138,165,706 (GRCm39)		probably benign	Het
Or2l13b	A	T	16: 19,349,381 (GRCm39)	C96*	probably null	Het
Pramel6	T	G	2: 87,338,903 (GRCm39)	H34Q	probably benign	Het
Ripk4	A	T	16: 97,544,352 (GRCm39)	L702*	probably null	Het
Slc5a4a	C	T	10: 76,013,929 (GRCm39)	R379*	probably null	Het
Slc9a3	T	C	13: 74,309,851 (GRCm39)	V513A	possibly damaging	Het
Strada	A	C	11: 106,058,651 (GRCm39)	M245R	probably damaging	Het
Sycp1	A	T	3: 102,748,278 (GRCm39)	I838K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trbv17	A	C	6: 41,140,286 (GRCm39)	N47T	probably benign	Het
Washc3	T	A	10: 88,051,871 (GRCm39)	S87T	probably benign	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
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
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'- ACCTGAGATCCAGAAGGGTTC -3'
(R):5'- GGGAAGATACAATACCCGCTC -3'

Sequencing Primer
(F):5'- AGAAGGGTTCTGGGGTTGG -3'
(R):5'- GATACAATACCCGCTCAGCCAC -3'

Posted On

2015-08-18