Incidental Mutation 'R2213:Mtf2'
| ID |
239516 |
| 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 |
040215-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.913)
|
| Stock # |
R2213 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108213540-108256870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108248780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 364
(E364G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081567]
[ENSMUST00000112626]
[ENSMUST00000124195]
[ENSMUST00000134026]
[ENSMUST00000143412]
|
| 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: E364G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080278
Gene: ENSMUSG00000029267
AA Change: E364G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108245
Gene: ENSMUSG00000029267
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131291
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134026
|
| SMART Domains |
Protein: ENSMUSP00000128797
Gene: ENSMUSG00000029267
| 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 |
noncoding transcript
Transcript: ENSMUST00000198662
|
| 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 |
probably benign
Transcript: ENSMUST00000137996
|
| SMART Domains |
Protein: ENSMUSP00000121697
Gene: ENSMUSG00000029267
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
10 |
61 |
3.37e-11 |
SMART |
|
PHD
|
109 |
159 |
1.23e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,326,247 (GRCm39) |
D78G |
probably damaging |
Het |
| Anxa1 |
C |
T |
19: 20,360,239 (GRCm39) |
R124H |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,846,230 (GRCm39) |
|
probably null |
Het |
| C87436 |
G |
A |
6: 86,422,455 (GRCm39) |
V10I |
probably benign |
Het |
| Ces1a |
G |
T |
8: 93,751,853 (GRCm39) |
P427Q |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,495,744 (GRCm39) |
Y78H |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,683,843 (GRCm39) |
T1663I |
possibly damaging |
Het |
| Cul7 |
T |
C |
17: 46,962,398 (GRCm39) |
F10L |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,547,852 (GRCm39) |
N130S |
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,387,854 (GRCm39) |
C100Y |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,585,691 (GRCm39) |
L135P |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,613,245 (GRCm39) |
S211P |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,460,485 (GRCm39) |
K970N |
probably benign |
Het |
| Eps15 |
A |
G |
4: 109,218,417 (GRCm39) |
K391E |
probably damaging |
Het |
| Fabp9 |
A |
G |
3: 10,259,860 (GRCm39) |
V51A |
probably damaging |
Het |
| Flg |
T |
C |
3: 93,200,335 (GRCm39) |
|
probably benign |
Het |
| Flnb |
AAGGAG |
AAG |
14: 7,881,652 (GRCm38) |
|
probably benign |
Het |
| Fscb |
A |
T |
12: 64,520,890 (GRCm39) |
I192N |
possibly damaging |
Het |
| Galntl5 |
A |
G |
5: 25,422,527 (GRCm39) |
I333V |
probably benign |
Het |
| Gcnt3 |
A |
T |
9: 69,941,989 (GRCm39) |
V193E |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,839,313 (GRCm39) |
F535S |
probably damaging |
Het |
| Gpr87 |
A |
T |
3: 59,086,465 (GRCm39) |
S347T |
probably damaging |
Het |
| Gstm2 |
C |
T |
3: 107,893,409 (GRCm39) |
R18H |
probably damaging |
Het |
| H1f7 |
T |
A |
15: 98,154,219 (GRCm39) |
Q310L |
unknown |
Het |
| Haus6 |
C |
T |
4: 86,500,229 (GRCm39) |
E927K |
possibly damaging |
Het |
| Hunk |
A |
G |
16: 90,229,505 (GRCm39) |
N122S |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,612,670 (GRCm39) |
V232E |
probably damaging |
Het |
| Jag1 |
G |
T |
2: 136,931,812 (GRCm39) |
D586E |
probably benign |
Het |
| Klk1b1 |
T |
C |
7: 43,619,905 (GRCm39) |
S155P |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,084,029 (GRCm39) |
G1424* |
probably null |
Het |
| Lrp1 |
T |
A |
10: 127,376,571 (GRCm39) |
N4279I |
probably damaging |
Het |
| Lrrc43 |
G |
A |
5: 123,641,640 (GRCm39) |
V525I |
possibly damaging |
Het |
| Lrrc4c |
G |
A |
2: 97,460,816 (GRCm39) |
V481M |
probably benign |
Het |
| Mecr |
T |
A |
4: 131,581,126 (GRCm39) |
|
probably null |
Het |
| Megf10 |
T |
A |
18: 57,421,081 (GRCm39) |
Y906* |
probably null |
Het |
| Mpdz |
A |
G |
4: 81,228,409 (GRCm39) |
F1319L |
probably damaging |
Het |
| Nelfe |
T |
A |
17: 35,072,859 (GRCm39) |
D160E |
probably benign |
Het |
| Nin |
A |
G |
12: 70,092,128 (GRCm39) |
L727P |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,463,681 (GRCm39) |
T155A |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,476,945 (GRCm39) |
D242G |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,891 (GRCm39) |
L113Q |
probably damaging |
Het |
| Pnlip |
T |
C |
19: 58,662,202 (GRCm39) |
V116A |
probably benign |
Het |
| Prl7a2 |
T |
A |
13: 27,849,051 (GRCm39) |
L79F |
probably benign |
Het |
| Rbm25 |
A |
T |
12: 83,722,856 (GRCm39) |
I760L |
probably benign |
Het |
| Rbms3 |
A |
T |
9: 116,788,534 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rps10 |
C |
A |
17: 27,849,473 (GRCm39) |
|
probably benign |
Het |
| Slc35e4 |
T |
C |
11: 3,863,159 (GRCm39) |
E10G |
possibly damaging |
Het |
| Smad2 |
A |
T |
18: 76,437,697 (GRCm39) |
T434S |
probably damaging |
Het |
| Sox30 |
C |
T |
11: 45,875,679 (GRCm39) |
S477F |
probably damaging |
Het |
| Speer4a3 |
G |
T |
5: 26,158,175 (GRCm39) |
T59K |
probably benign |
Het |
| Stat4 |
A |
T |
1: 52,053,014 (GRCm39) |
D65V |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,931,147 (GRCm39) |
D366G |
probably damaging |
Het |
| Syngap1 |
C |
A |
17: 27,172,043 (GRCm39) |
R84S |
probably damaging |
Het |
| Synpo2l |
A |
G |
14: 20,710,734 (GRCm39) |
Y629H |
probably damaging |
Het |
| Taf4 |
A |
T |
2: 179,577,683 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,769,527 (GRCm39) |
H68R |
probably benign |
Het |
| Txndc8 |
T |
A |
4: 57,984,199 (GRCm39) |
Q144L |
probably benign |
Het |
| Tyr |
T |
G |
7: 87,142,086 (GRCm39) |
Q158P |
probably damaging |
Het |
| Uchl3 |
T |
A |
14: 101,904,106 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
T |
C |
4: 138,332,123 (GRCm39) |
K298R |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,747,043 (GRCm39) |
N891S |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,116,492 (GRCm39) |
S2125G |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGGGAAAATATTCTGTGGTATC -3'
(R):5'- CTTGTCTAAAGGGGTAGGGCTAC -3'
Sequencing Primer
(F):5'- GGTATCTGGTAGTTCTCCATGAG -3'
(R):5'- AGTACCTACCTGCCATGGAGTAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation