Incidental Mutation 'R3114:Meak7'
| ID |
263933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meak7
|
| Ensembl Gene |
ENSMUSG00000034105 |
| Gene Name |
MTOR associated protein, eak-7 homolog |
| Synonyms |
4632415K11Rik, Tldc1 |
| MMRRC Submission |
040587-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3114 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120486815-120505155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120495056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 234
(A234V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049156]
[ENSMUST00000212534]
|
| AlphaFold |
Q8K0P3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049156
AA Change: A234V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044430
Gene: ENSMUSG00000034105
AA Change: A234V
| Domain | Start | End | E-Value | Type |
|---|
|
TLDc
|
241 |
410 |
4.36e-69 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212501
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212534
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,297,221 (GRCm39) |
Q305* |
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,966,291 (GRCm39) |
K345N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Col11a2 |
T |
G |
17: 34,265,442 (GRCm39) |
V276G |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,052,542 (GRCm39) |
S4346G |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,345,772 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,739 (GRCm39) |
F341L |
probably benign |
Het |
| Gm1587 |
T |
G |
14: 78,036,272 (GRCm39) |
E11D |
unknown |
Het |
| H3c3 |
C |
A |
13: 23,929,290 (GRCm39) |
R64L |
probably benign |
Het |
| Ighv5-1 |
A |
G |
12: 113,537,844 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,198,841 (GRCm39) |
|
probably null |
Het |
| Klhl33 |
A |
T |
14: 51,128,972 (GRCm39) |
D752E |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Marchf1 |
A |
C |
8: 66,840,033 (GRCm39) |
H272P |
probably benign |
Het |
| Mei1 |
C |
T |
15: 82,009,160 (GRCm39) |
A835V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,162,516 (GRCm39) |
|
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,527,136 (GRCm39) |
V63E |
probably damaging |
Het |
| Nos3 |
C |
T |
5: 24,577,629 (GRCm39) |
|
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,757 (GRCm39) |
|
probably null |
Het |
| Pcdha11 |
T |
A |
18: 37,144,860 (GRCm39) |
I317K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,776,328 (GRCm39) |
S89P |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,024,418 (GRCm39) |
N682S |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,535,023 (GRCm39) |
I365V |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,067,106 (GRCm39) |
T505A |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,919,955 (GRCm39) |
|
noncoding transcript |
Het |
| Spmip8 |
T |
C |
8: 96,039,809 (GRCm39) |
|
probably null |
Het |
| Sspn |
A |
T |
6: 145,880,095 (GRCm39) |
I66F |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,777 (GRCm39) |
S337P |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,811,860 (GRCm39) |
S1715P |
probably damaging |
Het |
|
| Other mutations in Meak7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Meak7
|
APN |
8 |
120,499,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00886:Meak7
|
APN |
8 |
120,500,007 (GRCm39) |
splice site |
probably benign |
|
|
IGL02679:Meak7
|
APN |
8 |
120,499,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02896:Meak7
|
APN |
8 |
120,489,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Meak7
|
UTSW |
8 |
120,489,089 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0456:Meak7
|
UTSW |
8 |
120,495,162 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1831:Meak7
|
UTSW |
8 |
120,497,992 (GRCm39) |
missense |
probably null |
0.00 |
|
R2919:Meak7
|
UTSW |
8 |
120,495,056 (GRCm39) |
missense |
probably benign |
|
|
R3116:Meak7
|
UTSW |
8 |
120,495,056 (GRCm39) |
missense |
probably benign |
|
|
R4763:Meak7
|
UTSW |
8 |
120,495,122 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4796:Meak7
|
UTSW |
8 |
120,495,093 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4858:Meak7
|
UTSW |
8 |
120,499,262 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4976:Meak7
|
UTSW |
8 |
120,494,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5119:Meak7
|
UTSW |
8 |
120,494,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5393:Meak7
|
UTSW |
8 |
120,499,157 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6811:Meak7
|
UTSW |
8 |
120,495,029 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6828:Meak7
|
UTSW |
8 |
120,499,306 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7237:Meak7
|
UTSW |
8 |
120,489,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8536:Meak7
|
UTSW |
8 |
120,490,787 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9047:Meak7
|
UTSW |
8 |
120,489,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9375:Meak7
|
UTSW |
8 |
120,498,096 (GRCm39) |
missense |
probably benign |
|
|
R9414:Meak7
|
UTSW |
8 |
120,495,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9668:Meak7
|
UTSW |
8 |
120,488,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9731:Meak7
|
UTSW |
8 |
120,498,010 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAACTTCCCAAGAGCAGGAGG -3'
(R):5'- GATGGCTACAAGTTCCAGGG -3'
Sequencing Primer
(F):5'- TCCTCAAGGACAAGCAGGCTG -3'
(R):5'- TACAAGTTCCAGGGCCCTCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation