Incidental Mutation 'R5305:Mtf2'
| ID |
404492 |
| 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 |
042888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
R5305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108213540-108256870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108252365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 465
(T465A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081567]
[ENSMUST00000112626]
[ENSMUST00000118036]
[ENSMUST00000124195]
[ENSMUST00000143412]
[ENSMUST00000134026]
|
| 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: T465A
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080278
Gene: ENSMUSG00000029267
AA Change: T465A
| 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 |
possibly damaging
Transcript: ENSMUST00000112626
AA Change: T408A
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108245
Gene: ENSMUSG00000029267
AA Change: T408A
| 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: ENSMUST00000118036
|
| SMART Domains |
Protein: ENSMUSP00000113922
Gene: ENSMUSG00000063406
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:EMP24_GP25L
|
35 |
99 |
1.6e-14 |
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 |
noncoding transcript
Transcript: ENSMUST00000141592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198662
|
| 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 |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.1469 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (67/68) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
A |
15: 81,943,420 (GRCm39) |
V11M |
possibly damaging |
Het |
| Acot8 |
A |
G |
2: 164,637,685 (GRCm39) |
V179A |
probably benign |
Het |
| Actb |
A |
G |
5: 142,889,985 (GRCm39) |
I194T |
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,336,533 (GRCm39) |
V787A |
probably benign |
Het |
| Areg |
G |
T |
5: 91,292,308 (GRCm39) |
A203S |
probably damaging |
Het |
| Asb13 |
A |
T |
13: 3,693,479 (GRCm39) |
D79V |
probably damaging |
Het |
| Atad2b |
C |
T |
12: 5,015,855 (GRCm39) |
T527I |
probably damaging |
Het |
| Auts2 |
T |
G |
5: 131,472,632 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,885,501 (GRCm39) |
S35T |
probably damaging |
Het |
| Crebzf |
T |
C |
7: 90,093,342 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
G |
T |
6: 18,381,097 (GRCm39) |
N1366K |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,393,750 (GRCm39) |
C1417F |
probably damaging |
Het |
| Dot1l |
C |
T |
10: 80,626,627 (GRCm39) |
P162S |
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,490,690 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,480,895 (GRCm39) |
S613G |
possibly damaging |
Het |
| Erich6 |
T |
G |
3: 58,532,537 (GRCm39) |
I357L |
probably benign |
Het |
| Foxj3 |
T |
A |
4: 119,477,155 (GRCm39) |
S288T |
possibly damaging |
Het |
| Gls2 |
T |
G |
10: 128,040,578 (GRCm39) |
Y326* |
probably null |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm7535 |
T |
C |
17: 18,132,061 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
T |
G |
6: 100,764,179 (GRCm39) |
L288R |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
| Mgat4c |
T |
A |
10: 102,225,140 (GRCm39) |
F451L |
possibly damaging |
Het |
| Mrpl20 |
G |
A |
4: 155,888,162 (GRCm39) |
R17H |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,583,757 (GRCm39) |
L66R |
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nr2e1 |
A |
T |
10: 42,447,483 (GRCm39) |
Y176* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,903,541 (GRCm39) |
T7628A |
possibly damaging |
Het |
| Or7a37 |
A |
T |
10: 78,806,390 (GRCm39) |
K302N |
possibly damaging |
Het |
| Pitx2 |
T |
G |
3: 129,009,489 (GRCm39) |
V129G |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,873,897 (GRCm39) |
|
probably benign |
Het |
| Ppard |
A |
G |
17: 28,517,832 (GRCm39) |
D300G |
probably damaging |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,743 (GRCm39) |
V46A |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,177,902 (GRCm39) |
V332E |
probably damaging |
Het |
| Prss30 |
T |
G |
17: 24,191,750 (GRCm39) |
Y257S |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,900,863 (GRCm39) |
E1082G |
probably damaging |
Het |
| Rab3c |
T |
A |
13: 110,317,611 (GRCm39) |
R89S |
probably damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,874,445 (GRCm39) |
V389A |
possibly damaging |
Het |
| Rims1 |
T |
A |
1: 22,635,623 (GRCm39) |
R119S |
probably damaging |
Het |
| Sema3b |
T |
C |
9: 107,480,536 (GRCm39) |
H137R |
probably null |
Het |
| Sf3b4 |
G |
C |
3: 96,080,958 (GRCm39) |
A89P |
probably damaging |
Het |
| Sgta |
T |
A |
10: 80,882,081 (GRCm39) |
Q298L |
probably damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sry |
T |
A |
Y: 2,662,982 (GRCm39) |
D226V |
unknown |
Het |
| Sv2a |
A |
G |
3: 96,092,774 (GRCm39) |
E158G |
possibly damaging |
Het |
| Sytl2 |
A |
G |
7: 90,031,071 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
T |
A |
3: 89,125,283 (GRCm39) |
|
probably benign |
Het |
| Top3a |
A |
T |
11: 60,653,365 (GRCm39) |
N56K |
possibly damaging |
Het |
| Tyk2 |
T |
C |
9: 21,020,677 (GRCm39) |
D918G |
probably damaging |
Het |
| Uqcrh |
A |
G |
4: 115,924,481 (GRCm39) |
|
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,814 (GRCm39) |
S167P |
probably damaging |
Het |
| Wdr25 |
C |
A |
12: 108,992,366 (GRCm39) |
H74N |
probably damaging |
Het |
| Zfp458 |
T |
C |
13: 67,404,382 (GRCm39) |
N686D |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,515 (GRCm39) |
H512Q |
|
Het |
| Zfp976 |
A |
T |
7: 42,262,902 (GRCm39) |
Y312N |
probably benign |
Het |
| Zscan4c |
G |
A |
7: 10,743,462 (GRCm39) |
V354I |
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 |
|
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 |
|
|
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'- TCAGTTTCAGAGAATCCTACGTTG -3'
(R):5'- TGTAGCCAGTCCTACAAGTATACC -3'
Sequencing Primer
(F):5'- ACGTTGGATTTACCTTGTTCTATAGG -3'
(R):5'- GTCCTACAAGTATACCCCTATATGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation