Incidental Mutation 'IGL01459:Mtf2'
| ID |
278491 |
| 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 # |
IGL01459
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,864,449 (GRCm39) |
D470V |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,391,007 (GRCm39) |
S420P |
probably damaging |
Het |
| Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
| Kbtbd8 |
A |
G |
6: 95,099,789 (GRCm39) |
N356D |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,804,820 (GRCm39) |
E189G |
probably damaging |
Het |
| Kif2b |
T |
C |
11: 91,467,849 (GRCm39) |
K145E |
possibly damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
| Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
| Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
| Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
| Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
| Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
| Prkra |
A |
G |
2: 76,460,780 (GRCm39) |
L306S |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
| Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
G |
15: 11,391,940 (GRCm39) |
V265A |
possibly damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,673,371 (GRCm39) |
L405P |
probably benign |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
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 |
|
IGL01452: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 |
2015-04-16 |
Incidental Mutation