Mutagenetix > Incidental Mutation

Incidental Mutation 'R8998:Men1'

684840

Institutional Source

Beutler Lab

Gene Symbol

Men1

Ensembl Gene

ENSMUSG00000024947

Gene Name

multiple endocrine neoplasia 1

Synonyms

menin

MMRRC Submission

068829-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6385009-6390921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6389960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 538 (V538I)

Ref Sequence

ENSEMBL: ENSMUSP00000109130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000113502] [ENSMUST00000113503] [ENSMUST00000113504] [ENSMUST00000124556] [ENSMUST00000130382] [ENSMUST00000142496] [ENSMUST00000152349] [ENSMUST00000166909] [ENSMUST00000170132]

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 benign
Transcript: ENSMUST00000056391
AA Change: V532I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000058149
Gene: ENSMUSG00000024947
AA Change: V532I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000078137
AA Change: V477I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947
AA Change: V477I

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 benign
Transcript: ENSMUST00000079327
AA Change: V532I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000078306
Gene: ENSMUSG00000024947
AA Change: V532I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113500
AA Change: V532I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947
AA Change: V532I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113501
AA Change: V497I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947
AA Change: V497I

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 benign
Transcript: ENSMUST00000113502
AA Change: V538I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947
AA Change: V538I

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 benign
Transcript: ENSMUST00000113503
AA Change: V537I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947
AA Change: V537I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113504
AA Change: V532I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947
AA Change: V532I

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

SMART Domains

Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947
AA Change: V28I

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,921,083 (GRCm39)	E245G	possibly damaging	Het
Cd6	A	T	19: 10,776,642 (GRCm39)	C128S	probably damaging	Het
Cep41	T	C	6: 30,666,165 (GRCm39)	D98G	probably benign	Het
Cfap52	T	C	11: 67,818,137 (GRCm39)	K525E	probably damaging	Het
Ddx10	T	C	9: 53,140,534 (GRCm39)	E289G	possibly damaging	Het
Dnah1	T	C	14: 31,018,235 (GRCm39)	T1428A	probably benign	Het
Dsg3	T	C	18: 20,666,684 (GRCm39)	L631P	probably damaging	Het
Dusp19	T	A	2: 80,461,271 (GRCm39)	C187S	probably benign	Het
Efcab3	A	T	11: 104,640,477 (GRCm39)	M1072L	probably benign	Het
Fap	T	C	2: 62,367,368 (GRCm39)	H338R	probably benign	Het
Gabrg1	T	A	5: 70,973,378 (GRCm39)	I59F	probably benign	Het
Glb1l3	A	T	9: 26,764,914 (GRCm39)		probably null	Het
Igkv8-26	C	A	6: 70,170,514 (GRCm39)	A35E	probably benign	Het
Ikzf1	A	G	11: 11,635,013 (GRCm39)		probably benign	Het
Krt18	A	C	15: 101,939,874 (GRCm39)	E357D	probably damaging	Het
Lbr	C	T	1: 181,646,512 (GRCm39)	G470E	probably damaging	Het
Map2	A	T	1: 66,452,473 (GRCm39)	K454N	possibly damaging	Het
Map2k3	T	C	11: 60,840,817 (GRCm39)	V282A		Het
Mfn1	T	A	3: 32,623,683 (GRCm39)	M621K	possibly damaging	Het
Mpdz	C	A	4: 81,202,882 (GRCm39)	G1838*	probably null	Het
Msantd5f9	G	C	4: 73,837,420 (GRCm39)	N99K	probably damaging	Het
Mypn	A	T	10: 62,998,050 (GRCm39)	L420*	probably null	Het
Nkx6-1	T	C	5: 101,812,082 (GRCm39)	M7V	unknown	Het
Notum	G	A	11: 120,545,207 (GRCm39)	H451Y	probably benign	Het
Odad2	C	A	18: 7,211,574 (GRCm39)	V767L	possibly damaging	Het
Or11i1	A	T	3: 106,728,999 (GRCm39)	I292N	probably damaging	Het
Or2b28	A	G	13: 21,531,988 (GRCm39)	K297E	probably damaging	Het
Or6c3	A	G	10: 129,309,386 (GRCm39)	N275S	probably benign	Het
Pabpc4l	A	C	3: 46,400,783 (GRCm39)	I287S	probably benign	Het
Pcdha2	C	T	18: 37,073,428 (GRCm39)	T353M	possibly damaging	Het
Plekha1	T	C	7: 130,510,199 (GRCm39)	I315T	unknown	Het
Ppp2r2b	C	T	18: 42,870,993 (GRCm39)	A106T	probably benign	Het
Prkch	T	C	12: 73,742,973 (GRCm39)	V209A	probably damaging	Het
Ptprc	A	G	1: 138,028,930 (GRCm39)	C284R	probably damaging	Het
Ptprf	A	G	4: 118,083,671 (GRCm39)	V804A	probably benign	Het
Rbp3	C	T	14: 33,684,360 (GRCm39)	R1130*	probably null	Het
Serpina6	C	G	12: 103,617,988 (GRCm39)	R275P	probably damaging	Het
Six3	T	A	17: 85,931,164 (GRCm39)	H273Q	probably benign	Het
Stk35	C	A	2: 129,652,509 (GRCm39)	P337T	probably damaging	Het
Supt5	A	G	7: 28,037,848 (GRCm39)	S2P	unknown	Het
Tnik	A	G	3: 28,719,920 (GRCm39)	Y1264C	probably damaging	Het
Trim45	A	G	3: 100,838,960 (GRCm39)	T621A	unknown	Het
Tyrp1	T	C	4: 80,763,094 (GRCm39)	L327P	probably damaging	Het
Vmn2r69	A	C	7: 85,060,307 (GRCm39)	S426A	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
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
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'- CACATAGTTAGCCGGGAAGC -3'
(R):5'- TTCATCTGCACTTGCGACTG -3'

Sequencing Primer
(F):5'- CCGAGGCTGAAGAACCATG -3'
(R):5'- ACTTGCGACTGTGCCGTG -3'

Posted On

2021-10-11