Incidental Mutation 'R1384:Men1'
ID 163191
Institutional Source Beutler Lab
Gene Symbol Men1
Ensembl Gene ENSMUSG00000024947
Gene Name multiple endocrine neoplasia 1
Synonyms menin
MMRRC Submission 039446-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1384 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6385009-6390921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6389921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 464 (S464P)
Ref Sequence ENSEMBL: ENSMUSP00000077272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000113502] [ENSMUST00000113503] [ENSMUST00000113504] [ENSMUST00000124556] [ENSMUST00000130382] [ENSMUST00000142496] [ENSMUST00000152349] [ENSMUST00000170132] [ENSMUST00000166909]
AlphaFold O88559
Predicted Effect probably benign
Transcript: ENSMUST00000025897
SMART Domains Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
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: S519P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058149
Gene: ENSMUSG00000024947
AA Change: S519P

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078137
AA Change: S464P

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947
AA Change: S464P

DomainStartEndE-ValueType
Pfam:Menin 1 396 2.6e-241 PFAM
Pfam:Menin 392 556 1.5e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079327
AA Change: S519P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078306
Gene: ENSMUSG00000024947
AA Change: S519P

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113500
AA Change: S519P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947
AA Change: S519P

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113501
AA Change: S484P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947
AA Change: S484P

DomainStartEndE-ValueType
Pfam:Menin 1 183 2.6e-104 PFAM
Pfam:Menin 184 576 3.2e-213 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113502
AA Change: S525P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947
AA Change: S525P

DomainStartEndE-ValueType
Pfam:Menin 7 515 1.5e-254 PFAM
Pfam:Menin 536 615 4.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113503
AA Change: S524P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947
AA Change: S524P

DomainStartEndE-ValueType
Pfam:Menin 1 616 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113504
AA Change: S519P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947
AA Change: S519P

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127809
Predicted Effect probably benign
Transcript: ENSMUST00000124556
SMART Domains Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130382
SMART Domains Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000170292
AA Change: S15P
SMART Domains Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947
AA Change: S15P

DomainStartEndE-ValueType
Pfam:Menin 4 106 1.2e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155569
Predicted Effect probably benign
Transcript: ENSMUST00000152349
SMART Domains Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 57 3.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170132
SMART Domains Protein: ENSMUSP00000126655
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 135 1.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166909
SMART Domains Protein: ENSMUSP00000133085
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 62 8.9e-29 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 96% (54/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,451 (GRCm39) noncoding transcript Het
A930033H14Rik A G 10: 69,048,191 (GRCm39) probably benign Het
Abcf3 G A 16: 20,378,053 (GRCm39) G522R probably damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Alg10b A G 15: 90,111,785 (GRCm39) K210E possibly damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
C9 G A 15: 6,488,415 (GRCm39) V90I probably benign Het
Cacna1s A G 1: 136,022,709 (GRCm39) I634V probably benign Het
Catip A G 1: 74,403,522 (GRCm39) D153G probably benign Het
Cpt1c G A 7: 44,610,348 (GRCm39) probably benign Het
Cyp2c23 A G 19: 44,002,102 (GRCm39) S296P probably damaging Het
Cyp2d41-ps G A 15: 82,663,718 (GRCm39) noncoding transcript Het
Edc4 T A 8: 106,619,014 (GRCm39) I1327N probably damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Filip1l A G 16: 57,391,652 (GRCm39) K509E possibly damaging Het
Golga4 A G 9: 118,394,719 (GRCm39) E96G probably damaging Het
Grid2ip T G 5: 143,371,851 (GRCm39) probably null Het
Gucy1a2 A C 9: 3,759,620 (GRCm39) E475D probably damaging Het
Hipk1 A G 3: 103,666,090 (GRCm39) probably benign Het
Ica1 G A 6: 8,742,262 (GRCm39) Q124* probably null Het
Igsf3 T C 3: 101,358,612 (GRCm39) probably null Het
Matn2 A G 15: 34,409,956 (GRCm39) E462G probably benign Het
Mrgpra2b T A 7: 47,113,742 (GRCm39) E330V probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Nckap1 A G 2: 80,364,014 (GRCm39) M492T possibly damaging Het
Nhsl1 A T 10: 18,284,261 (GRCm39) K67N probably null Het
Nostrin A G 2: 69,019,406 (GRCm39) R484G probably benign Het
Or8g22 T A 9: 38,958,200 (GRCm39) I172F possibly damaging Het
Otog T A 7: 45,923,119 (GRCm39) probably benign Het
P2rx5 A G 11: 73,058,716 (GRCm39) Y300C probably damaging Het
Pars2 T C 4: 106,510,913 (GRCm39) F232L possibly damaging Het
Pi4ka A G 16: 17,115,401 (GRCm39) probably benign Het
Pld3 A G 7: 27,237,082 (GRCm39) S266P probably benign Het
Pole G A 5: 110,471,530 (GRCm39) V1425M possibly damaging Het
Prss43 A G 9: 110,656,510 (GRCm39) I66V probably benign Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Slc45a2 A G 15: 11,025,832 (GRCm39) Y394C probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Strip1 T C 3: 107,534,155 (GRCm39) S160G probably benign Het
Tbx2 A G 11: 85,724,318 (GRCm39) K129R probably benign Het
Tfr2 T C 5: 137,585,082 (GRCm39) probably benign Het
Thap12 T C 7: 98,352,645 (GRCm39) S17P probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tspear T C 10: 77,702,166 (GRCm39) F200L probably benign Het
Tspyl5 T A 15: 33,687,526 (GRCm39) R140W possibly damaging Het
Ttn T C 2: 76,606,002 (GRCm39) D18236G probably damaging Het
Upf2 G A 2: 5,965,800 (GRCm39) R140Q unknown Het
Vps4a T A 8: 107,763,276 (GRCm39) I10N possibly damaging Het
Other mutations in Men1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGCACATAGTTAGCCGGGAAGCAG -3'
(R):5'- CAGAATCAGAGTTCAGAGGCCCTTG -3'

Sequencing Primer
(F):5'- AAGAGAGTCCAAGCCTGAGG -3'
(R):5'- ATCTGCACTTGCGACTGTG -3'
Posted On 2014-03-17