Incidental Mutation 'R8283:Men1'
| ID |
638347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Men1
|
| Ensembl Gene |
ENSMUSG00000024947 |
| Gene Name |
multiple endocrine neoplasia 1 |
| Synonyms |
menin |
| MMRRC Submission |
067706-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6385009-6390921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6386848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 186
(D186V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000056391
AA Change: D180V
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058149
Gene: ENSMUSG00000024947
AA Change: D180V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078137
AA Change: D180V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947
AA Change: D180V
| 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: D180V
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078306
Gene: ENSMUSG00000024947
AA Change: D180V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113500
AA Change: D180V
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947
AA Change: D180V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113501
AA Change: D180V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947
AA Change: D180V
| 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: D186V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947
AA Change: D186V
| 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: D185V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947
AA Change: D185V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Menin
|
1 |
616 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113504
AA Change: D180V
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947
AA Change: D180V
| 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
T |
5: 8,856,086 (GRCm39) |
P65S |
probably damaging |
Het |
| Adcy3 |
A |
T |
12: 4,250,935 (GRCm39) |
R565W |
probably damaging |
Het |
| Arl14 |
A |
T |
3: 69,129,868 (GRCm39) |
N5I |
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,250 (GRCm39) |
E39G |
possibly damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Boc |
A |
T |
16: 44,340,800 (GRCm39) |
L50Q |
noncoding transcript |
Het |
| Calml3 |
A |
G |
13: 3,854,097 (GRCm39) |
V36A |
probably damaging |
Het |
| Ccdc183 |
G |
A |
2: 25,502,160 (GRCm39) |
A238V |
probably damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,839,065 (GRCm39) |
|
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,608,696 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,804,737 (GRCm39) |
N491S |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,303,771 (GRCm39) |
G2429D |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,349,457 (GRCm39) |
T84A |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,118,384 (GRCm39) |
|
probably null |
Het |
| Drosha |
A |
G |
15: 12,890,587 (GRCm39) |
I945V |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,524,963 (GRCm39) |
Q133R |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,550,554 (GRCm39) |
E174D |
probably benign |
Het |
| Esrrb |
A |
G |
12: 86,468,732 (GRCm39) |
H15R |
probably benign |
Het |
| Fbxl12 |
T |
C |
9: 20,550,017 (GRCm39) |
T213A |
probably benign |
Het |
| Fnbp4 |
C |
A |
2: 90,577,115 (GRCm39) |
T149K |
probably damaging |
Het |
| Foxj1 |
A |
T |
11: 116,224,893 (GRCm39) |
F158Y |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,671,952 (GRCm39) |
T17A |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm45844 |
T |
C |
7: 7,244,901 (GRCm39) |
Y11C |
possibly damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,513,697 (GRCm39) |
V220A |
|
Het |
| Iars2 |
T |
A |
1: 185,020,288 (GRCm39) |
R949* |
probably null |
Het |
| Ice1 |
T |
C |
13: 70,752,549 (GRCm39) |
E1179G |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,895,177 (GRCm39) |
L782P |
probably damaging |
Het |
| Mcmdc2 |
A |
C |
1: 10,004,263 (GRCm39) |
K581T |
possibly damaging |
Het |
| Morc2b |
T |
G |
17: 33,355,675 (GRCm39) |
N699T |
probably benign |
Het |
| Mrgpra2b |
A |
G |
7: 47,114,465 (GRCm39) |
L89P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,563,695 (GRCm39) |
G490E |
probably damaging |
Het |
| Ntm |
T |
C |
9: 28,923,508 (GRCm39) |
Y224C |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,849,166 (GRCm39) |
D262E |
probably benign |
Het |
| Or10ag52 |
T |
C |
2: 87,043,683 (GRCm39) |
V149A |
probably benign |
Het |
| Or51l4 |
T |
A |
7: 103,404,019 (GRCm39) |
I258L |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Oscp1 |
A |
G |
4: 125,980,393 (GRCm39) |
M293V |
probably benign |
Het |
| Pcdhgc3 |
C |
A |
18: 37,940,694 (GRCm39) |
A365D |
probably damaging |
Het |
| Pcyt2 |
A |
T |
11: 120,501,548 (GRCm39) |
F388I |
probably benign |
Het |
| Pgm2l1 |
C |
G |
7: 99,902,460 (GRCm39) |
A136G |
probably benign |
Het |
| Phf14 |
T |
G |
6: 11,987,636 (GRCm39) |
D638E |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,940,935 (GRCm39) |
K1096E |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Rnf187 |
T |
A |
11: 58,829,241 (GRCm39) |
R124W |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,450,030 (GRCm39) |
Y36H |
probably damaging |
Het |
| Setd7 |
T |
G |
3: 51,428,796 (GRCm39) |
S345R |
probably benign |
Het |
| Sgms1 |
T |
C |
19: 32,137,035 (GRCm39) |
D177G |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,374,522 (GRCm39) |
L927S |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,942,294 (GRCm39) |
D977G |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,870,212 (GRCm39) |
R121W |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,291,771 (GRCm39) |
D152G |
probably damaging |
Het |
| Suclg2 |
T |
A |
6: 95,474,700 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
C |
7: 130,227,034 (GRCm39) |
S1240P |
probably benign |
Het |
| Tbc1d12 |
C |
T |
19: 38,825,353 (GRCm39) |
A68V |
probably benign |
Het |
| Tex14 |
G |
A |
11: 87,365,241 (GRCm39) |
D62N |
probably damaging |
Het |
| Thyn1 |
C |
T |
9: 26,918,155 (GRCm39) |
T181I |
probably benign |
Het |
| Trio |
T |
A |
15: 27,756,628 (GRCm39) |
H2056L |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,475,663 (GRCm39) |
L1207Q |
probably damaging |
Het |
| Usp17lb |
T |
C |
7: 104,490,013 (GRCm39) |
S305G |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,253 (GRCm39) |
Y750N |
probably damaging |
Het |
| Wif1 |
G |
A |
10: 120,931,952 (GRCm39) |
S292N |
probably benign |
Het |
| Xpo6 |
T |
G |
7: 125,727,421 (GRCm39) |
Q528H |
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 |
|
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 |
|
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'- TACAGGCTTGAGAGGTGCTAG -3'
(R):5'- CGCCTTGGTACATAAACACAG -3'
Sequencing Primer
(F):5'- TAGAGGGGGCATGGCTC -3'
(R):5'- GAGCAGAATCCCTCAGGTCACTTAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation