Incidental Mutation 'IGL01452:Mtf2'
ID |
84669 |
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: 0.913)
|
Stock # |
IGL01452
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bltp1 |
T |
A |
3: 37,050,457 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,733,515 (GRCm39) |
N344D |
probably damaging |
Het |
Cd300ld2 |
G |
A |
11: 114,903,428 (GRCm39) |
|
probably benign |
Het |
Ddx19b |
A |
G |
8: 111,747,620 (GRCm39) |
S105P |
probably damaging |
Het |
Dpf3 |
C |
A |
12: 83,316,263 (GRCm39) |
R336L |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,836,181 (GRCm39) |
S720P |
probably damaging |
Het |
Foxj3 |
T |
C |
4: 119,478,825 (GRCm39) |
L427P |
unknown |
Het |
Hdac11 |
A |
G |
6: 91,144,843 (GRCm39) |
D157G |
probably damaging |
Het |
Klk13 |
G |
T |
7: 43,376,060 (GRCm39) |
R245L |
possibly damaging |
Het |
Med25 |
C |
T |
7: 44,532,255 (GRCm39) |
M367I |
possibly damaging |
Het |
Mindy3 |
G |
A |
2: 12,360,083 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
A |
T |
7: 141,371,292 (GRCm39) |
L3269F |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Pcnx2 |
A |
G |
8: 126,564,771 (GRCm39) |
S1041P |
probably damaging |
Het |
Pcnx4 |
G |
T |
12: 72,621,174 (GRCm39) |
G998V |
possibly damaging |
Het |
Ptprk |
G |
A |
10: 28,450,913 (GRCm39) |
|
probably null |
Het |
Scn9a |
A |
G |
2: 66,357,416 (GRCm39) |
F951L |
probably damaging |
Het |
Septin11 |
A |
C |
5: 93,309,063 (GRCm39) |
K248Q |
possibly damaging |
Het |
Src |
T |
A |
2: 157,304,903 (GRCm39) |
Y151N |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,091,176 (GRCm39) |
M119K |
possibly damaging |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Ttn |
A |
G |
2: 76,656,475 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably 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 |
IGL01459:Mtf2
|
APN |
5 |
108,228,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01460: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 |
2013-11-11 |