Incidental Mutation 'IGL01460:Mtf2'
ID |
278493 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mtf2
|
Ensembl Gene |
ENSMUSG00000029267 |
Gene Name |
metal response element binding transcription factor 2 |
Synonyms |
Pcl2, C76717, 9230112N11Rik, M96 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.905)
|
Stock # |
IGL01460
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
108213540-108256870 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 108228809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 42
(P42S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081567]
[ENSMUST00000112626]
[ENSMUST00000124195]
[ENSMUST00000134026]
[ENSMUST00000143412]
[ENSMUST00000170319]
[ENSMUST00000172045]
|
AlphaFold |
Q02395 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081567
AA Change: P42S
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000080278 Gene: ENSMUSG00000029267 AA Change: P42S
Domain | Start | End | E-Value | Type |
TUDOR
|
44 |
101 |
4.09e-13 |
SMART |
PHD
|
104 |
155 |
3.37e-11 |
SMART |
PHD
|
203 |
253 |
1.23e-4 |
SMART |
low complexity region
|
496 |
508 |
N/A |
INTRINSIC |
Pfam:Mtf2_C
|
544 |
591 |
2.8e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112626
AA Change: P42S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000108245 Gene: ENSMUSG00000029267 AA Change: P42S
Domain | Start | End | E-Value | Type |
TUDOR
|
44 |
101 |
4.09e-13 |
SMART |
PHD
|
104 |
155 |
3.37e-11 |
SMART |
PHD
|
203 |
253 |
1.23e-4 |
SMART |
low complexity region
|
439 |
451 |
N/A |
INTRINSIC |
Pfam:Mtf2_C
|
485 |
535 |
5.8e-33 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124195
AA Change: P42S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126297 Gene: ENSMUSG00000029267 AA Change: P42S
Domain | Start | End | E-Value | Type |
PDB:2EQJ|A
|
36 |
70 |
2e-17 |
PDB |
Blast:TUDOR
|
44 |
75 |
7e-13 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131264
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131291
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134026
AA Change: P42S
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128797 Gene: ENSMUSG00000029267 AA Change: P42S
Domain | Start | End | E-Value | Type |
TUDOR
|
44 |
101 |
4.09e-13 |
SMART |
PHD
|
104 |
155 |
3.37e-11 |
SMART |
PHD
|
203 |
253 |
1.23e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141592
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143412
AA Change: P42S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132596 Gene: ENSMUSG00000029267 AA Change: P42S
Domain | Start | End | E-Value | Type |
TUDOR
|
44 |
101 |
1.22e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163823
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163195
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198662
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170319
|
SMART Domains |
Protein: ENSMUSP00000130536 Gene: ENSMUSG00000029267
Domain | Start | End | E-Value | Type |
PHD
|
1 |
37 |
6.4e-3 |
SMART |
PHD
|
85 |
135 |
1.23e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172045
|
SMART Domains |
Protein: ENSMUSP00000126452 Gene: ENSMUSG00000029267
Domain | Start | End | E-Value | Type |
PHD
|
2 |
50 |
2.18e-5 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit vertebral transformation and delayed replicative senescence in MEFs. Mice homozygous for one gene trap allele exhibit postnatal lethality, vertebral transformation and delayed replicative senescence in MEFs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
C |
7: 75,397,594 (GRCm39) |
V2608A |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,055,856 (GRCm39) |
K1250R |
probably benign |
Het |
Ctsm |
T |
C |
13: 61,686,850 (GRCm39) |
Q14R |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,178,864 (GRCm39) |
N846D |
possibly damaging |
Het |
Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
Itgb3 |
C |
T |
11: 104,553,220 (GRCm39) |
Q693* |
probably null |
Het |
Kcnk18 |
G |
A |
19: 59,208,289 (GRCm39) |
V42M |
probably damaging |
Het |
Kng1 |
A |
G |
16: 22,897,944 (GRCm39) |
H448R |
probably benign |
Het |
Myo10 |
A |
T |
15: 25,714,194 (GRCm39) |
E120V |
probably benign |
Het |
Or12k5 |
A |
C |
2: 36,894,648 (GRCm39) |
M326R |
probably benign |
Het |
Or9a2 |
A |
C |
6: 41,749,216 (GRCm39) |
S6A |
probably benign |
Het |
Peli1 |
C |
T |
11: 21,096,966 (GRCm39) |
P119S |
probably benign |
Het |
Pelp1 |
A |
G |
11: 70,284,790 (GRCm39) |
V1026A |
unknown |
Het |
Pi4ka |
A |
G |
16: 17,175,515 (GRCm39) |
F438L |
probably damaging |
Het |
Postn |
A |
G |
3: 54,282,579 (GRCm39) |
|
probably benign |
Het |
Taf1b |
T |
C |
12: 24,608,245 (GRCm39) |
L548P |
possibly damaging |
Het |
Tbc1d7 |
C |
T |
13: 43,318,835 (GRCm39) |
A101T |
probably benign |
Het |
Vcp |
C |
A |
4: 42,996,040 (GRCm39) |
R53L |
possibly damaging |
Het |
|
Other mutations in Mtf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01307:Mtf2
|
APN |
5 |
108,254,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01367:Mtf2
|
APN |
5 |
108,252,323 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01452:Mtf2
|
APN |
5 |
108,228,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01459:Mtf2
|
APN |
5 |
108,228,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01809:Mtf2
|
APN |
5 |
108,235,191 (GRCm39) |
missense |
probably benign |
0.27 |
IGL03166:Mtf2
|
APN |
5 |
108,254,586 (GRCm39) |
missense |
probably benign |
0.28 |
R0667:Mtf2
|
UTSW |
5 |
108,252,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R1533:Mtf2
|
UTSW |
5 |
108,239,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R1664:Mtf2
|
UTSW |
5 |
108,252,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1723:Mtf2
|
UTSW |
5 |
108,235,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Mtf2
|
UTSW |
5 |
108,228,797 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2213:Mtf2
|
UTSW |
5 |
108,248,780 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3904:Mtf2
|
UTSW |
5 |
108,228,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R4320:Mtf2
|
UTSW |
5 |
108,234,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R4560:Mtf2
|
UTSW |
5 |
108,234,855 (GRCm39) |
splice site |
probably null |
|
R4764:Mtf2
|
UTSW |
5 |
108,241,218 (GRCm39) |
missense |
probably benign |
0.43 |
R4989:Mtf2
|
UTSW |
5 |
108,220,894 (GRCm39) |
intron |
probably benign |
|
R5305:Mtf2
|
UTSW |
5 |
108,252,365 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5356:Mtf2
|
UTSW |
5 |
108,254,476 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5528:Mtf2
|
UTSW |
5 |
108,242,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R6021:Mtf2
|
UTSW |
5 |
108,229,003 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7164:Mtf2
|
UTSW |
5 |
108,241,235 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7426:Mtf2
|
UTSW |
5 |
108,248,836 (GRCm39) |
missense |
probably benign |
|
R7822:Mtf2
|
UTSW |
5 |
108,228,743 (GRCm39) |
nonsense |
probably null |
|
R8033:Mtf2
|
UTSW |
5 |
108,234,951 (GRCm39) |
missense |
probably damaging |
0.99 |
R8872:Mtf2
|
UTSW |
5 |
108,247,051 (GRCm39) |
missense |
probably benign |
0.18 |
R8991:Mtf2
|
UTSW |
5 |
108,248,805 (GRCm39) |
missense |
probably benign |
0.01 |
R9067:Mtf2
|
UTSW |
5 |
108,252,133 (GRCm39) |
missense |
probably benign |
|
R9139:Mtf2
|
UTSW |
5 |
108,252,398 (GRCm39) |
critical splice donor site |
probably null |
|
R9177:Mtf2
|
UTSW |
5 |
108,234,949 (GRCm39) |
missense |
probably benign |
0.04 |
Z1088:Mtf2
|
UTSW |
5 |
108,235,195 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Mtf2
|
UTSW |
5 |
108,235,810 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Mtf2
|
UTSW |
5 |
108,228,754 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1177:Mtf2
|
UTSW |
5 |
108,213,768 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2015-04-16 |