Incidental Mutation 'R1870:Men1'
ID |
210704 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Men1
|
Ensembl Gene |
ENSMUSG00000024947 |
Gene Name |
multiple endocrine neoplasia 1 |
Synonyms |
menin |
MMRRC Submission |
039892-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1870 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6385009-6390921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6387660 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 285
(D285G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000056391]
[ENSMUST00000078137]
[ENSMUST00000079327]
[ENSMUST00000113500]
[ENSMUST00000113501]
[ENSMUST00000113502]
[ENSMUST00000113503]
[ENSMUST00000113504]
[ENSMUST00000152349]
[ENSMUST00000130382]
[ENSMUST00000142496]
[ENSMUST00000124556]
[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: D285G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058149 Gene: ENSMUSG00000024947 AA Change: D285G
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078137
AA Change: D285G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077272 Gene: ENSMUSG00000024947 AA Change: D285G
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: D285G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078306 Gene: ENSMUSG00000024947 AA Change: D285G
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113500
AA Change: D285G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109128 Gene: ENSMUSG00000024947 AA Change: D285G
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113501
AA Change: D250G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109129 Gene: ENSMUSG00000024947 AA Change: D250G
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: D291G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109130 Gene: ENSMUSG00000024947 AA Change: D291G
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: D290G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109131 Gene: ENSMUSG00000024947 AA Change: D290G
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
616 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113504
AA Change: D285G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109132 Gene: ENSMUSG00000024947 AA Change: D285G
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124333
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127809
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133696
|
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: 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: ENSMUST00000124556
|
SMART Domains |
Protein: ENSMUSP00000121375 Gene: ENSMUSG00000024948
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
16 |
56 |
4e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170132
AA Change: D74G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126655 Gene: ENSMUSG00000024947 AA Change: D74G
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
135 |
1.6e-81 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155569
|
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: ENSMUST00000170292
|
SMART Domains |
Protein: ENSMUSP00000128607 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
4 |
106 |
1.2e-28 |
PFAM |
|
Meta Mutation Damage Score |
0.8543 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.1%
|
Validation Efficiency |
97% (96/99) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,242,134 (GRCm39) |
E1332D |
probably benign |
Het |
Abca5 |
C |
A |
11: 110,220,043 (GRCm39) |
V8L |
probably benign |
Het |
Abcc8 |
C |
T |
7: 45,773,339 (GRCm39) |
E797K |
probably benign |
Het |
Acd |
C |
A |
8: 106,425,039 (GRCm39) |
|
probably null |
Het |
Adam34l |
A |
T |
8: 44,078,132 (GRCm39) |
Y697* |
probably null |
Het |
Adamts12 |
T |
C |
15: 11,311,240 (GRCm39) |
S1166P |
probably benign |
Het |
Alox12b |
T |
C |
11: 69,049,199 (GRCm39) |
Y83H |
possibly damaging |
Het |
Antxr2 |
A |
T |
5: 98,178,297 (GRCm39) |
S38T |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,115,262 (GRCm39) |
E749G |
probably damaging |
Het |
Arpc1a |
T |
A |
5: 145,043,901 (GRCm39) |
C344S |
possibly damaging |
Het |
Bcan |
T |
C |
3: 87,902,908 (GRCm39) |
Y290C |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,991,018 (GRCm39) |
S179F |
possibly damaging |
Het |
Catsper3 |
A |
C |
13: 55,953,561 (GRCm39) |
D224A |
probably damaging |
Het |
Ccar2 |
A |
G |
14: 70,377,946 (GRCm39) |
S680P |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,368,703 (GRCm39) |
H1275R |
possibly damaging |
Het |
Ccdc40 |
T |
C |
11: 119,150,730 (GRCm39) |
M1011T |
possibly damaging |
Het |
Cfap46 |
T |
A |
7: 139,263,386 (GRCm39) |
D17V |
probably damaging |
Het |
Csn1s2a |
T |
C |
5: 87,926,058 (GRCm39) |
F45L |
probably benign |
Het |
Cwf19l2 |
T |
G |
9: 3,458,802 (GRCm39) |
N750K |
possibly damaging |
Het |
Cyb5r4 |
A |
G |
9: 86,922,462 (GRCm39) |
D157G |
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,354 (GRCm39) |
I253N |
probably benign |
Het |
Dennd4a |
C |
T |
9: 64,804,516 (GRCm39) |
A1285V |
probably benign |
Het |
Dlat |
A |
G |
9: 50,548,874 (GRCm39) |
S561P |
probably damaging |
Het |
Dlgap2 |
T |
A |
8: 14,823,347 (GRCm39) |
V522E |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,331,859 (GRCm39) |
Y2148* |
probably null |
Het |
Dnase2a |
T |
C |
8: 85,635,392 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
A |
G |
5: 9,468,007 (GRCm39) |
E225G |
probably damaging |
Het |
Fam83f |
T |
C |
15: 80,574,113 (GRCm39) |
|
probably benign |
Het |
Firrm |
G |
A |
1: 163,792,363 (GRCm39) |
L545F |
probably damaging |
Het |
Foxi1 |
A |
T |
11: 34,157,937 (GRCm39) |
N29K |
possibly damaging |
Het |
Galk2 |
T |
C |
2: 125,817,183 (GRCm39) |
L324P |
probably benign |
Het |
Gdpd4 |
G |
A |
7: 97,622,162 (GRCm39) |
V214I |
probably benign |
Het |
Gfra3 |
C |
T |
18: 34,844,373 (GRCm39) |
A56T |
probably damaging |
Het |
Glyctk |
A |
G |
9: 106,032,547 (GRCm39) |
S489P |
probably damaging |
Het |
Izumo4 |
A |
T |
10: 80,539,569 (GRCm39) |
I135F |
probably damaging |
Het |
Krt87 |
T |
A |
15: 101,385,071 (GRCm39) |
T342S |
probably benign |
Het |
L1td1 |
T |
A |
4: 98,625,714 (GRCm39) |
D636E |
possibly damaging |
Het |
Letm2 |
A |
G |
8: 26,086,460 (GRCm39) |
|
probably benign |
Het |
Lpin1 |
A |
G |
12: 16,591,744 (GRCm39) |
F828L |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,511,431 (GRCm39) |
D179G |
unknown |
Het |
Mdn1 |
T |
A |
4: 32,763,339 (GRCm39) |
D5146E |
probably damaging |
Het |
Megf10 |
T |
A |
18: 57,324,257 (GRCm39) |
Y99* |
probably null |
Het |
Mertk |
T |
G |
2: 128,643,116 (GRCm39) |
D838E |
probably benign |
Het |
Mta1 |
T |
C |
12: 113,091,694 (GRCm39) |
S266P |
possibly damaging |
Het |
Mta3 |
G |
A |
17: 84,089,397 (GRCm39) |
V320M |
probably damaging |
Het |
Nlrp9c |
G |
A |
7: 26,084,245 (GRCm39) |
Q445* |
probably null |
Het |
Or2m12 |
A |
T |
16: 19,105,357 (GRCm39) |
N45K |
probably damaging |
Het |
Or51e1 |
T |
C |
7: 102,358,961 (GRCm39) |
I165T |
possibly damaging |
Het |
Or8b38 |
A |
T |
9: 37,972,646 (GRCm39) |
K10I |
probably benign |
Het |
Or8d6 |
T |
G |
9: 39,854,117 (GRCm39) |
I187R |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,828,132 (GRCm39) |
L1320I |
probably damaging |
Het |
Pdzd2 |
G |
T |
15: 12,457,972 (GRCm39) |
T297K |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,882,795 (GRCm39) |
D782G |
probably damaging |
Het |
Pik3c3 |
T |
C |
18: 30,426,185 (GRCm39) |
|
probably null |
Het |
Pira2 |
T |
C |
7: 3,847,452 (GRCm39) |
N79S |
probably damaging |
Het |
Pkdrej |
G |
T |
15: 85,700,632 (GRCm39) |
T1768K |
probably damaging |
Het |
Plcb3 |
T |
C |
19: 6,940,353 (GRCm39) |
I439V |
probably benign |
Het |
Pold4 |
T |
A |
19: 4,282,593 (GRCm39) |
Y58* |
probably null |
Het |
Ppef2 |
T |
G |
5: 92,398,371 (GRCm39) |
Q49P |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,723,817 (GRCm39) |
I2026F |
possibly damaging |
Het |
Rest |
T |
A |
5: 77,416,209 (GRCm39) |
V141E |
possibly damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,202 (GRCm39) |
V409A |
probably benign |
Het |
Rnpc3 |
T |
C |
3: 113,404,704 (GRCm39) |
|
probably benign |
Het |
S100a10 |
A |
T |
3: 93,468,377 (GRCm39) |
E36V |
probably benign |
Het |
S1pr3 |
A |
C |
13: 51,573,952 (GRCm39) |
K378Q |
probably benign |
Het |
Scaper |
T |
A |
9: 55,593,222 (GRCm39) |
I472F |
probably damaging |
Het |
Sgcg |
G |
A |
14: 61,477,896 (GRCm39) |
|
probably benign |
Het |
Shank1 |
A |
T |
7: 43,991,539 (GRCm39) |
R69* |
probably null |
Het |
Shoc1 |
G |
A |
4: 59,054,142 (GRCm39) |
|
probably benign |
Het |
Siglecf |
A |
G |
7: 43,004,967 (GRCm39) |
N399S |
probably benign |
Het |
Slc25a54 |
T |
A |
3: 108,987,932 (GRCm39) |
Y24* |
probably null |
Het |
Slc29a4 |
T |
C |
5: 142,707,243 (GRCm39) |
*529R |
probably null |
Het |
Slc41a2 |
G |
A |
10: 83,137,029 (GRCm39) |
Q293* |
probably null |
Het |
Slc4a7 |
T |
C |
14: 14,737,509 (GRCm38) |
|
probably null |
Het |
Slfn9 |
G |
T |
11: 82,872,402 (GRCm39) |
T778N |
probably benign |
Het |
Ssr2 |
T |
C |
3: 88,483,949 (GRCm39) |
|
probably benign |
Het |
Tecrl |
T |
A |
5: 83,502,706 (GRCm39) |
T33S |
probably benign |
Het |
Tnfrsf9 |
T |
A |
4: 151,018,804 (GRCm39) |
C158* |
probably null |
Het |
Tradd |
T |
C |
8: 105,985,792 (GRCm39) |
E253G |
possibly damaging |
Het |
Usp34 |
A |
G |
11: 23,314,479 (GRCm39) |
H807R |
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r27 |
T |
C |
6: 124,201,170 (GRCm39) |
I262M |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,737,316 (GRCm39) |
V91A |
probably damaging |
Het |
Vwf |
C |
T |
6: 125,619,902 (GRCm39) |
R1527C |
probably damaging |
Het |
Wwc1 |
C |
T |
11: 35,752,772 (GRCm39) |
G763D |
probably damaging |
Het |
Zfp526 |
T |
G |
7: 24,924,594 (GRCm39) |
D284E |
possibly damaging |
Het |
Zfp646 |
T |
C |
7: 127,483,021 (GRCm39) |
F1733L |
possibly damaging |
Het |
Zfp90 |
A |
G |
8: 107,145,755 (GRCm39) |
H29R |
probably benign |
Het |
Zkscan4 |
A |
G |
13: 21,668,104 (GRCm39) |
E185G |
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 |
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'- GTCACTTCTCTAGCTGACTGGG -3'
(R):5'- CCAGGGCTCTTCTTAAACACAG -3'
Sequencing Primer
(F):5'- TCTCTAGCTGACTGGGGCTCC -3'
(R):5'- GGGCTCTTCTTAAACACAGAACTAC -3'
|
Posted On |
2014-06-30 |