Incidental Mutation 'IGL00494:Meak7'
ID |
13250 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Meak7
|
Ensembl Gene |
ENSMUSG00000034105 |
Gene Name |
MTOR associated protein, eak-7 homolog |
Synonyms |
4632415K11Rik, Tldc1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00494
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
120486815-120505155 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120499334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 53
(K53E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049156]
[ENSMUST00000212534]
|
AlphaFold |
Q8K0P3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049156
AA Change: K53E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000044430 Gene: ENSMUSG00000034105 AA Change: K53E
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
AA Change: K53E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,621,108 (GRCm39) |
T271A |
possibly damaging |
Het |
Amer3 |
A |
G |
1: 34,627,608 (GRCm39) |
T616A |
probably benign |
Het |
Cacna1d |
A |
T |
14: 29,818,907 (GRCm39) |
M1216K |
probably damaging |
Het |
Clec16a |
A |
T |
16: 10,413,760 (GRCm39) |
K389M |
probably damaging |
Het |
Grin2b |
T |
G |
6: 135,713,329 (GRCm39) |
M851L |
possibly damaging |
Het |
Hapln1 |
T |
C |
13: 89,753,590 (GRCm39) |
V252A |
probably benign |
Het |
Hspa13 |
A |
G |
16: 75,554,880 (GRCm39) |
V402A |
possibly damaging |
Het |
Lrfn1 |
T |
C |
7: 28,159,442 (GRCm39) |
Y454H |
probably damaging |
Het |
Map3k21 |
G |
A |
8: 126,671,412 (GRCm39) |
S900N |
possibly damaging |
Het |
Mdm1 |
C |
A |
10: 118,000,346 (GRCm39) |
H615N |
probably damaging |
Het |
Nabp1 |
A |
T |
1: 51,516,687 (GRCm39) |
D60E |
probably damaging |
Het |
Nmur1 |
T |
C |
1: 86,314,084 (GRCm39) |
E361G |
probably benign |
Het |
Pms1 |
A |
G |
1: 53,245,715 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
T |
G |
12: 55,793,970 (GRCm39) |
D555A |
probably damaging |
Het |
Rbbp4 |
T |
C |
4: 129,203,946 (GRCm39) |
E406G |
probably benign |
Het |
Rp1l1 |
T |
A |
14: 64,266,174 (GRCm39) |
C587S |
probably benign |
Het |
Sez6l |
A |
T |
5: 112,610,869 (GRCm39) |
N516K |
probably damaging |
Het |
Taar7e |
T |
C |
10: 23,914,038 (GRCm39) |
I176T |
probably benign |
Het |
Tex14 |
G |
T |
11: 87,446,310 (GRCm39) |
R1439S |
probably damaging |
Het |
Tle3 |
T |
A |
9: 61,316,039 (GRCm39) |
|
probably benign |
Het |
Xntrpc |
T |
A |
7: 101,736,754 (GRCm39) |
L327Q |
probably damaging |
Het |
|
Other mutations in Meak7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R3114: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 |
|
Posted On |
2012-12-06 |