Incidental Mutation 'R7164:Mtf2'
| ID |
557794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtf2
|
| Ensembl Gene |
ENSMUSG00000029267 |
| Gene Name |
metal response element binding transcription factor 2 |
| Synonyms |
Pcl2, C76717, 9230112N11Rik, M96 |
| MMRRC Submission |
045331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.913)
|
| Stock # |
R7164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108213540-108256870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108241235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 254
(S254T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081567]
[ENSMUST00000112626]
[ENSMUST00000124195]
[ENSMUST00000134026]
[ENSMUST00000143412]
[ENSMUST00000170319]
|
| AlphaFold |
Q02395 |
| PDB Structure |
Solution structure of the TUDOR domain of Metal-response element-binding transcription factor 2 [SOLUTION NMR]
Solution structure of the PHD domain of Metal-response element-binding transcription factor 2 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081567
AA Change: S254T
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080278
Gene: ENSMUSG00000029267
AA Change: S254T
| 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: S254T
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108245
Gene: ENSMUSG00000029267
AA Change: S254T
| 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 benign
Transcript: ENSMUST00000124195
|
| SMART Domains |
Protein: ENSMUSP00000126297
Gene: ENSMUSG00000029267
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2EQJ|A
|
36 |
70 |
2e-17 |
PDB |
|
Blast:TUDOR
|
44 |
75 |
7e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129921
AA Change: S28T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134026
AA Change: S254T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128797
Gene: ENSMUSG00000029267
AA Change: S254T
| 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 |
probably benign
Transcript: ENSMUST00000137996
AA Change: S159T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121697
Gene: ENSMUSG00000029267
AA Change: S159T
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
10 |
61 |
3.37e-11 |
SMART |
|
PHD
|
109 |
159 |
1.23e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143412
|
| SMART Domains |
Protein: ENSMUSP00000132596
Gene: ENSMUSG00000029267
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
44 |
101 |
1.22e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170319
AA Change: S136T
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130536
Gene: ENSMUSG00000029267
AA Change: S136T
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
1 |
37 |
6.4e-3 |
SMART |
|
PHD
|
85 |
135 |
1.23e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
G |
A |
13: 12,293,847 (GRCm39) |
H558Y |
probably damaging |
Het |
| Ajm1 |
T |
A |
2: 25,468,579 (GRCm39) |
H444L |
possibly damaging |
Het |
| Akap9 |
G |
C |
5: 4,110,364 (GRCm39) |
E3022D |
probably damaging |
Het |
| Anapc2 |
C |
T |
2: 25,175,011 (GRCm39) |
R710C |
probably damaging |
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Carmil3 |
A |
G |
14: 55,738,739 (GRCm39) |
E844G |
probably damaging |
Het |
| Cdk17 |
T |
G |
10: 93,068,343 (GRCm39) |
S367A |
probably benign |
Het |
| Cfap206 |
T |
A |
4: 34,719,656 (GRCm39) |
M253L |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,253,132 (GRCm39) |
K228Q |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,123,846 (GRCm39) |
I1503N |
possibly damaging |
Het |
| Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
| Czib |
C |
A |
4: 107,752,087 (GRCm39) |
D155E |
not run |
Het |
| Degs1 |
A |
G |
1: 182,106,690 (GRCm39) |
S226P |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,638 (GRCm39) |
W976R |
probably damaging |
Het |
| Fbxl4 |
C |
T |
4: 22,386,218 (GRCm39) |
P275L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,915,944 (GRCm38) |
|
probably null |
Het |
| Gnptab |
T |
A |
10: 88,269,932 (GRCm39) |
Y878* |
probably null |
Het |
| Gpr89 |
A |
T |
3: 96,778,714 (GRCm39) |
M453K |
probably benign |
Het |
| Igsf5 |
A |
T |
16: 96,174,048 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Inpp5e |
T |
A |
2: 26,297,995 (GRCm39) |
D202V |
possibly damaging |
Het |
| Itga3 |
C |
T |
11: 94,943,305 (GRCm39) |
V931M |
possibly damaging |
Het |
| Kcnab3 |
T |
C |
11: 69,222,184 (GRCm39) |
|
probably null |
Het |
| Klk4 |
T |
C |
7: 43,531,122 (GRCm39) |
I17T |
possibly damaging |
Het |
| Lrrc73 |
T |
C |
17: 46,567,169 (GRCm39) |
L206P |
probably damaging |
Het |
| Manba |
A |
T |
3: 135,248,149 (GRCm39) |
N346I |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,694,572 (GRCm39) |
|
probably null |
Het |
| Mast1 |
T |
C |
8: 85,661,933 (GRCm39) |
D63G |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,619,585 (GRCm39) |
T1379S |
unknown |
Het |
| Myo5a |
A |
G |
9: 75,087,435 (GRCm39) |
E1097G |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,329 (GRCm39) |
V238A |
possibly damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,580,931 (GRCm39) |
D493G |
probably damaging |
Het |
| Or10ak9 |
C |
T |
4: 118,726,922 (GRCm39) |
P315S |
probably benign |
Het |
| Or1j21 |
T |
C |
2: 36,683,709 (GRCm39) |
S154P |
probably benign |
Het |
| Or5ae2 |
A |
G |
7: 84,506,251 (GRCm39) |
I227V |
possibly damaging |
Het |
| Or5b108 |
A |
T |
19: 13,168,270 (GRCm39) |
M80L |
probably benign |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,932,176 (GRCm39) |
K52E |
probably damaging |
Het |
| Or8g51 |
A |
G |
9: 38,609,515 (GRCm39) |
I49T |
possibly damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,349 (GRCm39) |
C1543Y |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 109,169,222 (GRCm39) |
D88G |
probably benign |
Het |
| Pld5 |
A |
T |
1: 176,041,187 (GRCm39) |
M1K |
probably null |
Het |
| Prmt6 |
A |
G |
3: 110,157,680 (GRCm39) |
M203T |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,986,510 (GRCm39) |
V995D |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,084,862 (GRCm39) |
E199G |
possibly damaging |
Het |
| Pth1r |
A |
G |
9: 110,552,815 (GRCm39) |
I439T |
possibly damaging |
Het |
| Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
| Slc44a1 |
T |
C |
4: 53,528,711 (GRCm39) |
S154P |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,855 (GRCm39) |
Y192* |
probably null |
Het |
| Spag16 |
A |
G |
1: 70,764,025 (GRCm39) |
H615R |
possibly damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,122,063 (GRCm39) |
T3649I |
probably damaging |
Het |
| Tas2r114 |
G |
A |
6: 131,666,728 (GRCm39) |
A100V |
possibly damaging |
Het |
| U2af1l4 |
T |
C |
7: 30,264,544 (GRCm39) |
S103P |
probably benign |
Het |
| Usp10 |
T |
C |
8: 120,668,847 (GRCm39) |
S383P |
probably damaging |
Het |
| Vmn2r113 |
A |
G |
17: 23,167,137 (GRCm39) |
R505G |
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,708,232 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
T |
C |
17: 46,716,865 (GRCm39) |
V999A |
probably damaging |
Het |
| Zfp324 |
A |
T |
7: 12,702,810 (GRCm39) |
H58L |
probably damaging |
Het |
| Zfp707 |
A |
G |
15: 75,846,967 (GRCm39) |
E339G |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAATTGTCCCTTACCCCTAGATAG -3'
(R):5'- TGGTTAAATGGATAATCCTGAAGCC -3'
Sequencing Primer
(F):5'- CCTTACCCCTAGATAGGAATTGTTGG -3'
(R):5'- TCCTGAAGCCAGTATAAGCCTTGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation