Incidental Mutation 'R0048:Mtor'
| ID |
16113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtor
|
| Ensembl Gene |
ENSMUSG00000028991 |
| Gene Name |
mechanistic target of rapamycin kinase |
| Synonyms |
flat, 2610315D21Rik, RAPT1, RAFT1, mechanistic target of rapamycin (serine/threonine kinase), FKBP-rapamycin-associated protein FRAP, Frap1 |
| MMRRC Submission |
038342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148533068-148642140 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 148623338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 2063
(Q2063*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103221]
|
| AlphaFold |
Q9JLN9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000103221
AA Change: Q2063*
|
| SMART Domains |
Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991
AA Change: Q2063*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
790 |
N/A |
INTRINSIC |
|
DUF3385
|
854 |
1024 |
1.51e-93 |
SMART |
|
low complexity region
|
1279 |
1300 |
N/A |
INTRINSIC |
|
Pfam:FAT
|
1513 |
1908 |
2.3e-134 |
PFAM |
|
Rapamycin_bind
|
2015 |
2114 |
7.94e-61 |
SMART |
|
PI3Kc
|
2183 |
2484 |
8.84e-121 |
SMART |
|
FATC
|
2517 |
2549 |
2.11e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158456
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.7%
- 10x: 82.5%
- 20x: 75.5%
|
| Validation Efficiency |
94% (92/98) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for targeted, gene trap and ENU-induced null alleles exhibit embryonic lethality by E12.5 with abnormal embryogenesis. Mice homozygous for the ENU mutation further exhibit abnormal brain development. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(25) : Targeted(12) Gene trapped(12) Chemically induced(1)
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,140,563 (GRCm39) |
I299T |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,798 (GRCm39) |
S1212P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,537,198 (GRCm39) |
S52P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,112,371 (GRCm39) |
E715G |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,364,309 (GRCm39) |
|
probably null |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Btaf1 |
G |
T |
19: 36,980,924 (GRCm39) |
A1582S |
probably benign |
Het |
| Cblif |
G |
A |
19: 11,727,120 (GRCm39) |
V110M |
possibly damaging |
Het |
| Ccdc184 |
G |
A |
15: 98,066,341 (GRCm39) |
A49T |
probably damaging |
Het |
| Cd109 |
A |
C |
9: 78,587,303 (GRCm39) |
Y657S |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,432,244 (GRCm39) |
Y44F |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,119,601 (GRCm39) |
N353K |
probably benign |
Het |
| Dcaf10 |
T |
G |
4: 45,374,262 (GRCm39) |
Y562* |
probably null |
Het |
| Eno4 |
T |
C |
19: 58,952,970 (GRCm39) |
M328T |
possibly damaging |
Het |
| Etv3l |
T |
C |
3: 87,462,275 (GRCm39) |
|
noncoding transcript |
Het |
| Eya2 |
T |
A |
2: 165,557,931 (GRCm39) |
Y176N |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,662,150 (GRCm39) |
|
probably benign |
Het |
| H60b |
T |
A |
10: 22,163,130 (GRCm39) |
M235K |
probably benign |
Het |
| Hal |
T |
A |
10: 93,334,853 (GRCm39) |
Y395N |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly damaging |
Het |
| Inpp5j |
A |
G |
11: 3,451,417 (GRCm39) |
V463A |
probably damaging |
Het |
| Iqgap3 |
A |
T |
3: 88,023,256 (GRCm39) |
T516S |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
| Jmjd4 |
C |
A |
11: 59,344,778 (GRCm39) |
H244N |
probably benign |
Het |
| Klkb1 |
G |
A |
8: 45,742,233 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,496,474 (GRCm39) |
Y1578F |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,295,971 (GRCm39) |
D3379E |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
Het |
| Mblac1 |
A |
G |
5: 138,192,727 (GRCm39) |
Y23C |
probably damaging |
Het |
| Mfsd12 |
G |
A |
10: 81,198,648 (GRCm39) |
V380I |
possibly damaging |
Het |
| Mroh9 |
G |
A |
1: 162,890,056 (GRCm39) |
T227M |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,897,528 (GRCm39) |
|
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,348,673 (GRCm39) |
T954A |
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,201,284 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Nr1d1 |
A |
G |
11: 98,661,304 (GRCm39) |
S321P |
probably benign |
Het |
| Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,516,588 (GRCm39) |
I513V |
probably damaging |
Het |
| Pls1 |
T |
C |
9: 95,669,116 (GRCm39) |
E35G |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,519,323 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,454,939 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,539,764 (GRCm39) |
K423E |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,431,529 (GRCm39) |
D112G |
probably benign |
Het |
| Rbm46 |
A |
T |
3: 82,771,537 (GRCm39) |
S359R |
probably damaging |
Het |
| Rhobtb3 |
A |
T |
13: 76,050,364 (GRCm39) |
*100R |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
| Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,416,616 (GRCm39) |
F629S |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,048,594 (GRCm39) |
|
probably benign |
Het |
| Slc38a10 |
G |
T |
11: 120,001,138 (GRCm39) |
P561T |
probably benign |
Het |
| Slc45a4 |
A |
G |
15: 73,477,285 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
| Synpo2l |
A |
T |
14: 20,716,340 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,174,269 (GRCm39) |
Y846H |
probably damaging |
Het |
| Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
Het |
| Tigd2 |
C |
A |
6: 59,188,369 (GRCm39) |
T412K |
possibly damaging |
Het |
| Umodl1 |
A |
T |
17: 31,187,451 (GRCm39) |
N172Y |
probably damaging |
Het |
| Urah |
C |
T |
7: 140,416,665 (GRCm39) |
T46I |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,809 (GRCm39) |
P353L |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,653,504 (GRCm39) |
V1959E |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,365,900 (GRCm39) |
|
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,569,729 (GRCm39) |
V452M |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,369,572 (GRCm39) |
K650E |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,777,404 (GRCm39) |
Y887C |
probably damaging |
Het |
|
| Other mutations in Mtor |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Mtor
|
APN |
4 |
148,537,494 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01447:Mtor
|
APN |
4 |
148,615,214 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01551:Mtor
|
APN |
4 |
148,556,494 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01661:Mtor
|
APN |
4 |
148,599,308 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01675:Mtor
|
APN |
4 |
148,569,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01743:Mtor
|
APN |
4 |
148,615,070 (GRCm39) |
splice site |
probably benign |
|
|
IGL02015:Mtor
|
APN |
4 |
148,624,570 (GRCm39) |
nonsense |
probably null |
|
|
IGL02084:Mtor
|
APN |
4 |
148,555,137 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02095:Mtor
|
APN |
4 |
148,628,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02129:Mtor
|
APN |
4 |
148,634,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02260:Mtor
|
APN |
4 |
148,622,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02329:Mtor
|
APN |
4 |
148,619,396 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02440:Mtor
|
APN |
4 |
148,576,104 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02440:Mtor
|
APN |
4 |
148,630,886 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02449:Mtor
|
APN |
4 |
148,618,378 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02479:Mtor
|
APN |
4 |
148,555,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02904:Mtor
|
APN |
4 |
148,576,069 (GRCm39) |
splice site |
probably benign |
|
|
IGL02904:Mtor
|
APN |
4 |
148,536,851 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02931:Mtor
|
APN |
4 |
148,549,421 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03048:Mtor
|
APN |
4 |
148,630,847 (GRCm39) |
splice site |
probably benign |
|
|
IGL03133:Mtor
|
APN |
4 |
148,568,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03142:Mtor
|
APN |
4 |
148,538,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
Brushes
|
UTSW |
4 |
148,548,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
Dynamo
|
UTSW |
4 |
148,547,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
engine
|
UTSW |
4 |
148,641,312 (GRCm39) |
splice site |
probably null |
|
|
Erg
|
UTSW |
4 |
148,630,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lindor
|
UTSW |
4 |
148,539,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
motor
|
UTSW |
4 |
148,575,817 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4858_Mtor_211
|
UTSW |
4 |
148,539,273 (GRCm39) |
makesense |
probably null |
|
|
Vigor
|
UTSW |
4 |
148,623,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Vim
|
UTSW |
4 |
148,610,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4519001:Mtor
|
UTSW |
4 |
148,608,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Mtor
|
UTSW |
4 |
148,549,406 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0048:Mtor
|
UTSW |
4 |
148,623,338 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Mtor
|
UTSW |
4 |
148,618,359 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0112:Mtor
|
UTSW |
4 |
148,565,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Mtor
|
UTSW |
4 |
148,555,081 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0184:Mtor
|
UTSW |
4 |
148,549,428 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0208:Mtor
|
UTSW |
4 |
148,549,432 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0329:Mtor
|
UTSW |
4 |
148,568,837 (GRCm39) |
missense |
probably benign |
|
|
R0330:Mtor
|
UTSW |
4 |
148,568,837 (GRCm39) |
missense |
probably benign |
|
|
R0365:Mtor
|
UTSW |
4 |
148,570,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0537:Mtor
|
UTSW |
4 |
148,622,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Mtor
|
UTSW |
4 |
148,624,907 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0556:Mtor
|
UTSW |
4 |
148,553,837 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0613:Mtor
|
UTSW |
4 |
148,610,503 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0646:Mtor
|
UTSW |
4 |
148,568,811 (GRCm39) |
nonsense |
probably null |
|
|
R0710:Mtor
|
UTSW |
4 |
148,548,848 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0791:Mtor
|
UTSW |
4 |
148,547,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0792:Mtor
|
UTSW |
4 |
148,547,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0866:Mtor
|
UTSW |
4 |
148,570,513 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0973:Mtor
|
UTSW |
4 |
148,634,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1027:Mtor
|
UTSW |
4 |
148,624,456 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1028:Mtor
|
UTSW |
4 |
148,623,287 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1289:Mtor
|
UTSW |
4 |
148,554,764 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1416:Mtor
|
UTSW |
4 |
148,575,871 (GRCm39) |
nonsense |
probably null |
|
|
R1465:Mtor
|
UTSW |
4 |
148,610,450 (GRCm39) |
splice site |
probably benign |
|
|
R1506:Mtor
|
UTSW |
4 |
148,620,962 (GRCm39) |
splice site |
probably benign |
|
|
R1624:Mtor
|
UTSW |
4 |
148,632,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Mtor
|
UTSW |
4 |
148,623,364 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1771:Mtor
|
UTSW |
4 |
148,555,081 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1800:Mtor
|
UTSW |
4 |
148,547,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1855:Mtor
|
UTSW |
4 |
148,637,546 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1857:Mtor
|
UTSW |
4 |
148,565,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Mtor
|
UTSW |
4 |
148,539,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1954:Mtor
|
UTSW |
4 |
148,552,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Mtor
|
UTSW |
4 |
148,550,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2054:Mtor
|
UTSW |
4 |
148,547,309 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2099:Mtor
|
UTSW |
4 |
148,634,649 (GRCm39) |
nonsense |
probably null |
|
|
R2148:Mtor
|
UTSW |
4 |
148,540,469 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2214:Mtor
|
UTSW |
4 |
148,623,327 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2281:Mtor
|
UTSW |
4 |
148,574,012 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2512:Mtor
|
UTSW |
4 |
148,614,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2870:Mtor
|
UTSW |
4 |
148,624,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Mtor
|
UTSW |
4 |
148,624,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Mtor
|
UTSW |
4 |
148,624,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Mtor
|
UTSW |
4 |
148,624,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Mtor
|
UTSW |
4 |
148,624,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Mtor
|
UTSW |
4 |
148,624,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2873:Mtor
|
UTSW |
4 |
148,624,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4032:Mtor
|
UTSW |
4 |
148,621,209 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4073:Mtor
|
UTSW |
4 |
148,633,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4273:Mtor
|
UTSW |
4 |
148,634,609 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4611:Mtor
|
UTSW |
4 |
148,570,576 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4858:Mtor
|
UTSW |
4 |
148,539,273 (GRCm39) |
makesense |
probably null |
|
|
R4942:Mtor
|
UTSW |
4 |
148,556,599 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4967:Mtor
|
UTSW |
4 |
148,575,817 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4995:Mtor
|
UTSW |
4 |
148,610,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Mtor
|
UTSW |
4 |
148,641,312 (GRCm39) |
splice site |
probably null |
|
|
R5215:Mtor
|
UTSW |
4 |
148,538,440 (GRCm39) |
missense |
probably benign |
|
|
R5249:Mtor
|
UTSW |
4 |
148,548,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Mtor
|
UTSW |
4 |
148,550,549 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5365:Mtor
|
UTSW |
4 |
148,634,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5498:Mtor
|
UTSW |
4 |
148,624,821 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5514:Mtor
|
UTSW |
4 |
148,630,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Mtor
|
UTSW |
4 |
148,539,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5600:Mtor
|
UTSW |
4 |
148,575,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5615:Mtor
|
UTSW |
4 |
148,622,733 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5632:Mtor
|
UTSW |
4 |
148,553,463 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5641:Mtor
|
UTSW |
4 |
148,630,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5834:Mtor
|
UTSW |
4 |
148,620,993 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5984:Mtor
|
UTSW |
4 |
148,623,284 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6056:Mtor
|
UTSW |
4 |
148,621,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6225:Mtor
|
UTSW |
4 |
148,605,794 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6262:Mtor
|
UTSW |
4 |
148,610,552 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6335:Mtor
|
UTSW |
4 |
148,550,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Mtor
|
UTSW |
4 |
148,635,457 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6543:Mtor
|
UTSW |
4 |
148,630,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6711:Mtor
|
UTSW |
4 |
148,536,824 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6715:Mtor
|
UTSW |
4 |
148,623,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6744:Mtor
|
UTSW |
4 |
148,543,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6748:Mtor
|
UTSW |
4 |
148,634,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Mtor
|
UTSW |
4 |
148,622,938 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6836:Mtor
|
UTSW |
4 |
148,573,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6948:Mtor
|
UTSW |
4 |
148,621,209 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6979:Mtor
|
UTSW |
4 |
148,608,930 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6992:Mtor
|
UTSW |
4 |
148,548,932 (GRCm39) |
missense |
probably benign |
|
|
R7271:Mtor
|
UTSW |
4 |
148,630,942 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7423:Mtor
|
UTSW |
4 |
148,640,801 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7434:Mtor
|
UTSW |
4 |
148,549,416 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7619:Mtor
|
UTSW |
4 |
148,547,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7634:Mtor
|
UTSW |
4 |
148,536,807 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7697:Mtor
|
UTSW |
4 |
148,624,765 (GRCm39) |
nonsense |
probably null |
|
|
R7737:Mtor
|
UTSW |
4 |
148,623,195 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7791:Mtor
|
UTSW |
4 |
148,547,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7858:Mtor
|
UTSW |
4 |
148,539,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Mtor
|
UTSW |
4 |
148,630,856 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8076:Mtor
|
UTSW |
4 |
148,610,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8078:Mtor
|
UTSW |
4 |
148,552,744 (GRCm39) |
missense |
probably benign |
|
|
R8928:Mtor
|
UTSW |
4 |
148,623,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9040:Mtor
|
UTSW |
4 |
148,548,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9116:Mtor
|
UTSW |
4 |
148,637,198 (GRCm39) |
missense |
probably benign |
|
|
R9284:Mtor
|
UTSW |
4 |
148,543,537 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9310:Mtor
|
UTSW |
4 |
148,553,834 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9374:Mtor
|
UTSW |
4 |
148,599,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Mtor
|
UTSW |
4 |
148,622,776 (GRCm39) |
nonsense |
probably null |
|
|
R9465:Mtor
|
UTSW |
4 |
148,624,839 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9492:Mtor
|
UTSW |
4 |
148,568,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Mtor
|
UTSW |
4 |
148,599,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Mtor
|
UTSW |
4 |
148,569,103 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9600:Mtor
|
UTSW |
4 |
148,632,092 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9622:Mtor
|
UTSW |
4 |
148,568,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0025:Mtor
|
UTSW |
4 |
148,615,171 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Mtor
|
UTSW |
4 |
148,634,587 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1176:Mtor
|
UTSW |
4 |
148,634,582 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Protein Function and Prediction |
Mammalian target of rapamycin is a serine/threonine kinase. mTOR can be incorporated into two complexes: mTORC1 and mTORC2. TORC1 functions as a regulator of cell growth, proliferation, and mRNA translation; TORC2 promotes actin cytoskeletal rearrangement, cell survival, and cell cycle progression (1-5).
For information on mTOR complexes, signaling, and immune functions please see the record for hamel.
|
| Background |
MtorGt(OST92090)Lex/ Gt(OST92090)Lex; MGI:3529989
involves: 129S5/SvEvBrd
Homozygous trophoblast giant cell explants and inner cell mass explants fail to expand in culture (6).
Mtortm1.1Clyn/tm1.1Clyn; MGI:4820819
involves: BALB/c * C57BL/6J
Homozyotes are embryonic lethal (7).
Mtortm1.1Koz/tm1.1Koz; MGI:3512186
either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6)
Homozygotes are embryonic lethal by E11.5-E12.5; at E5.5 the embryos appear disorganized with no clear extraembryonic or embryonic boundaries and at E6.5-E7.4 the embryos are growth retarded (8). Cells of the inner cell mass fail to proliferate in culture (8).
Mtortm1.2Seq/tm1.2Seq; MGI:5425404
involves: C57BL/6 * SJL
Homozygotes are embryonic lethal (9).
Mtortm1Yam/tm1Yam; MGI:3052669
involves: 129S4/SvJae
Homozygote embyros die around E6.5-E7.5 (10). Cultured E3.5 blastocyts and trophoblasts fail to proliferate the inner cell mass.
|
| References |
1. Baba, M., Hong, S. B., Sharma, N., Warren, M. B., Nickerson, M. L., Iwamatsu, A., Esposito, D., Gillette, W. K., Hopkins, R. F.,3rd, Hartley, J. L., Furihata, M., Oishi, S., Zhen, W., Burke, T. R.,Jr, Linehan, W. M., Schmidt, L. S., and Zbar, B. (2006) Folliculin Encoded by the BHD Gene Interacts with a Binding Protein, FNIP1, and AMPK, and is Involved in AMPK and mTOR Signaling. Proc Natl Acad Sci U S A. 103, 15552-15557.
6. Guertin, D. A., Stevens, D. M., Thoreen, C. C., Burds, A. A., Kalaany, N. Y., Moffat, J., Brown, M., Fitzgerald, K. J., and Sabatini, D. M. (2006) Ablation in Mice of the mTORC Components Raptor, Rictor, Or mLST8 Reveals that mTORC2 is Required for Signaling to Akt-FOXO and PKCalpha, but Not S6K1. Dev Cell. 11, 859-871.
7. Lang, C. H., Frost, R. A., Bronson, S. K., Lynch, C. J., and Vary, T. C. (2010) Skeletal Muscle Protein Balance in mTOR Heterozygous Mice in Response to Inflammation and Leucine. Am J Physiol Endocrinol Metab. 298, E1283-94.
8. Gangloff, Y. G., Mueller, M., Dann, S. G., Svoboda, P., Sticker, M., Spetz, J. F., Um, S. H., Brown, E. J., Cereghini, S., Thomas, G., and Kozma, S. C. (2004) Disruption of the Mouse mTOR Gene Leads to Early Postimplantation Lethality and Prohibits Embryonic Stem Cell Development. Mol Cell Biol. 24, 9508-9516.
9. Cina, D. P., Onay, T., Paltoo, A., Li, C., Maezawa, Y., De Arteaga, J., Jurisicova, A., and Quaggin, S. E. (2012) Inhibition of MTOR Disrupts Autophagic Flux in Podocytes. J Am Soc Nephrol. 23, 412-420.
10. Murakami, M., Ichisaka, T., Maeda, M., Oshiro, N., Hara, K., Edenhofer, F., Kiyama, H., Yonezawa, K., and Yamanaka, S. (2004) MTOR is Essential for Growth and Proliferation in Early Mouse Embryos and Embryonic Stem Cells. Mol Cell Biol. 24, 6710-6718. |
| Posted On |
2013-01-08 |
| Science Writer |
Anne Murray |
Incidental Mutation