Incidental Mutation 'IGL02896:Meak7'
| ID |
363420 |
| 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 # |
IGL02896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120486815-120505155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120489164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 373
(D373G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049156]
[ENSMUST00000095171]
|
| AlphaFold |
Q8K0P3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049156
AA Change: D373G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044430
Gene: ENSMUSG00000034105
AA Change: D373G
| Domain | Start | End | E-Value | Type |
|---|
|
TLDc
|
241 |
410 |
4.36e-69 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095171
|
| SMART Domains |
Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
54 |
128 |
1.27e-12 |
SMART |
|
Pfam:E1-E2_ATPase
|
133 |
366 |
1.7e-62 |
PFAM |
|
Pfam:Hydrolase
|
371 |
684 |
5.3e-18 |
PFAM |
|
Pfam:HAD
|
374 |
681 |
7.4e-11 |
PFAM |
|
Pfam:Cation_ATPase
|
437 |
521 |
1.1e-17 |
PFAM |
|
Pfam:Cation_ATPase_C
|
754 |
927 |
1.1e-47 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
G |
8: 88,315,648 (GRCm39) |
D246G |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 68,875,991 (GRCm39) |
S504P |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,668,858 (GRCm39) |
I2566K |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,222,946 (GRCm39) |
V1108A |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,008,151 (GRCm39) |
F466I |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,635,886 (GRCm39) |
M226V |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,771,326 (GRCm39) |
D1023G |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,205 (GRCm39) |
I232V |
probably benign |
Het |
| Dolpp1 |
T |
C |
2: 30,286,242 (GRCm39) |
S114P |
probably damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,825 (GRCm39) |
S105T |
probably benign |
Het |
| Fndc7 |
T |
C |
3: 108,770,247 (GRCm39) |
I560V |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,757,707 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,810,058 (GRCm39) |
L113P |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,675,382 (GRCm39) |
H1066Q |
probably damaging |
Het |
| Katnb1 |
A |
G |
8: 95,822,656 (GRCm39) |
|
probably benign |
Het |
| Lrrd1 |
T |
A |
5: 3,901,473 (GRCm39) |
S593T |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,021,779 (GRCm39) |
R713G |
probably damaging |
Het |
| Mrgpra6 |
T |
A |
7: 46,838,655 (GRCm39) |
D181V |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,557,013 (GRCm39) |
V828I |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,468,360 (GRCm39) |
|
probably null |
Het |
| Nckap5l |
G |
T |
15: 99,325,091 (GRCm39) |
Q471K |
possibly damaging |
Het |
| Or12j5 |
T |
C |
7: 140,083,968 (GRCm39) |
|
probably null |
Het |
| Or1j15 |
A |
T |
2: 36,459,217 (GRCm39) |
L202F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,353 (GRCm39) |
L224* |
probably null |
Het |
| Pfn4 |
A |
G |
12: 4,825,451 (GRCm39) |
N96S |
probably benign |
Het |
| Ppp1r3c |
G |
A |
19: 36,710,865 (GRCm39) |
P302S |
probably benign |
Het |
| Senp2 |
T |
G |
16: 21,837,118 (GRCm39) |
Y122* |
probably null |
Het |
| Slc5a7 |
C |
A |
17: 54,600,045 (GRCm39) |
G123* |
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tent2 |
A |
T |
13: 93,304,945 (GRCm39) |
N280K |
probably damaging |
Het |
| Th |
C |
T |
7: 142,449,168 (GRCm39) |
R289Q |
probably damaging |
Het |
| Tigit |
C |
T |
16: 43,482,561 (GRCm39) |
V58I |
probably benign |
Het |
| Ush1c |
C |
A |
7: 45,847,839 (GRCm39) |
V810L |
probably benign |
Het |
| Vmn2r120 |
C |
A |
17: 57,816,008 (GRCm39) |
K782N |
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 |
|
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 |
2015-12-18 |
Incidental Mutation