Incidental Mutation 'IGL00574:Mtx3'
| ID |
4271 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtx3
|
| Ensembl Gene |
ENSMUSG00000021704 |
| Gene Name |
metaxin 3 |
| Synonyms |
Gm6514, 4930470O13Rik, LOC382793 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL00574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
92981268-92994738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 92984384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 188
(Q188H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076169]
|
| AlphaFold |
D3YTP3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076169
AA Change: Q188H
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075526
Gene: ENSMUSG00000021704
AA Change: Q188H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tom37
|
7 |
74 |
3.9e-14 |
PFAM |
|
Pfam:Tom37_C
|
94 |
169 |
4e-13 |
PFAM |
|
Pfam:GST_C_2
|
146 |
240 |
2.8e-9 |
PFAM |
|
Pfam:GST_C_3
|
159 |
238 |
7.7e-12 |
PFAM |
|
low complexity region
|
285 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224368
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
C |
1: 125,339,011 (GRCm39) |
Y109C |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,703,107 (GRCm39) |
L568Q |
probably damaging |
Het |
| Baiap2 |
T |
C |
11: 119,897,234 (GRCm39) |
S530P |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,156,376 (GRCm39) |
I164V |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,947,330 (GRCm39) |
N473S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,487 (GRCm39) |
D191G |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,852,162 (GRCm39) |
N135K |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,820,787 (GRCm39) |
N1134S |
probably benign |
Het |
| Macrod2 |
T |
G |
2: 140,242,797 (GRCm39) |
M21R |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,794 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,489,423 (GRCm39) |
F26C |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,341,708 (GRCm39) |
I647K |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,975 (GRCm39) |
N522K |
probably benign |
Het |
| Rbm10 |
T |
A |
X: 20,516,931 (GRCm39) |
|
probably benign |
Het |
| Rbm10 |
G |
A |
X: 20,516,932 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,572,762 (GRCm39) |
E734G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,463 (GRCm39) |
V837A |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sohlh2 |
C |
T |
3: 55,111,747 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,469,937 (GRCm39) |
Q43* |
probably null |
Het |
| Tmem147 |
G |
A |
7: 30,427,858 (GRCm39) |
R66* |
probably null |
Het |
| Tmem150c |
G |
T |
5: 100,240,810 (GRCm39) |
H51N |
probably benign |
Het |
| Usp47 |
A |
T |
7: 111,662,542 (GRCm39) |
K228M |
probably damaging |
Het |
|
| Other mutations in Mtx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03341:Mtx3
|
APN |
13 |
92,984,391 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0715:Mtx3
|
UTSW |
13 |
92,986,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0825:Mtx3
|
UTSW |
13 |
92,986,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Mtx3
|
UTSW |
13 |
92,984,191 (GRCm39) |
missense |
probably benign |
|
|
R1888:Mtx3
|
UTSW |
13 |
92,984,191 (GRCm39) |
missense |
probably benign |
|
|
R2209:Mtx3
|
UTSW |
13 |
92,984,112 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5724:Mtx3
|
UTSW |
13 |
92,984,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Mtx3
|
UTSW |
13 |
92,989,359 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8226:Mtx3
|
UTSW |
13 |
92,984,215 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9321:Mtx3
|
UTSW |
13 |
92,984,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation