Incidental Mutation 'R4764:Mtf2'
ID |
357088 |
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 |
042405-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.905)
|
Stock # |
R4764 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108213540-108256870 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108241218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 248
(I248T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081567]
[ENSMUST00000112626]
[ENSMUST00000124195]
[ENSMUST00000134026]
[ENSMUST00000170319]
[ENSMUST00000143412]
|
AlphaFold |
Q02395 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081567
AA Change: I248T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000080278 Gene: ENSMUSG00000029267 AA Change: I248T
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: I248T
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108245 Gene: ENSMUSG00000029267 AA Change: I248T
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 |
unknown
Transcript: ENSMUST00000129921
AA Change: I22T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131264
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131291
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134026
AA Change: I248T
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128797 Gene: ENSMUSG00000029267 AA Change: I248T
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: ENSMUST00000170319
AA Change: I130T
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000130536 Gene: ENSMUSG00000029267 AA Change: I130T
Domain | Start | End | E-Value | Type |
PHD
|
1 |
37 |
6.4e-3 |
SMART |
PHD
|
85 |
135 |
1.23e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198662
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137996
AA Change: I153T
|
SMART Domains |
Protein: ENSMUSP00000121697 Gene: ENSMUSG00000029267 AA Change: I153T
Domain | Start | End | E-Value | Type |
PHD
|
10 |
61 |
3.37e-11 |
SMART |
PHD
|
109 |
159 |
1.23e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141592
|
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 |
|
Meta Mutation Damage Score |
0.2022 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
99% (78/79) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
G |
5: 146,122,029 (GRCm39) |
S18R |
probably benign |
Het |
2010315B03Rik |
A |
C |
9: 124,056,396 (GRCm39) |
V176G |
probably benign |
Het |
Abcb1a |
T |
A |
5: 8,765,732 (GRCm39) |
|
probably null |
Het |
Acad11 |
C |
A |
9: 103,953,076 (GRCm39) |
P102T |
probably damaging |
Het |
Aggf1 |
T |
A |
13: 95,501,221 (GRCm39) |
D387V |
probably damaging |
Het |
Akr1c13 |
G |
A |
13: 4,248,496 (GRCm39) |
V234I |
probably benign |
Het |
Alg5 |
A |
G |
3: 54,653,894 (GRCm39) |
Y210C |
possibly damaging |
Het |
Arl8a |
C |
A |
1: 135,074,837 (GRCm39) |
A41E |
probably benign |
Het |
Axin1 |
C |
A |
17: 26,392,730 (GRCm39) |
T337K |
possibly damaging |
Het |
Bdp1 |
A |
G |
13: 100,192,775 (GRCm39) |
L1353P |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,934,520 (GRCm39) |
V2851E |
probably damaging |
Het |
C9 |
A |
T |
15: 6,489,124 (GRCm39) |
E160D |
probably damaging |
Het |
Cbx6 |
T |
C |
15: 79,712,881 (GRCm39) |
D182G |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,597,678 (GRCm39) |
R242G |
possibly damaging |
Het |
Chst8 |
T |
C |
7: 34,375,149 (GRCm39) |
D230G |
probably damaging |
Het |
Col3a1 |
A |
C |
1: 45,385,270 (GRCm39) |
D129A |
probably damaging |
Het |
Cst12 |
A |
G |
2: 148,631,393 (GRCm39) |
E38G |
possibly damaging |
Het |
Disp1 |
G |
T |
1: 182,869,660 (GRCm39) |
A920E |
probably damaging |
Het |
Dtna |
T |
G |
18: 23,668,206 (GRCm39) |
|
probably null |
Het |
Elp3 |
T |
A |
14: 65,820,378 (GRCm39) |
H97L |
probably damaging |
Het |
Exoc8 |
A |
G |
8: 125,624,314 (GRCm39) |
F18L |
possibly damaging |
Het |
Extl3 |
T |
C |
14: 65,314,769 (GRCm39) |
T138A |
probably benign |
Het |
Foxi2 |
G |
T |
7: 135,012,396 (GRCm39) |
G95C |
probably damaging |
Het |
Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,907,426 (GRCm39) |
D811E |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,608,259 (GRCm39) |
E709V |
probably damaging |
Het |
Fscn3 |
T |
A |
6: 28,436,200 (GRCm39) |
*499K |
probably null |
Het |
Galc |
C |
T |
12: 98,209,003 (GRCm39) |
G217D |
possibly damaging |
Het |
Gm5592 |
G |
T |
7: 40,865,542 (GRCm39) |
|
probably benign |
Het |
Gm57858 |
T |
G |
3: 36,064,809 (GRCm39) |
*521C |
probably null |
Het |
Hnrnpul1 |
A |
G |
7: 25,442,436 (GRCm39) |
S269P |
probably benign |
Het |
Hrh1 |
T |
C |
6: 114,457,496 (GRCm39) |
V259A |
probably benign |
Het |
Lef1 |
T |
C |
3: 130,978,382 (GRCm39) |
S167P |
probably benign |
Het |
Muc2 |
C |
T |
7: 141,299,345 (GRCm39) |
T130M |
possibly damaging |
Het |
Myo16 |
T |
C |
8: 10,485,880 (GRCm39) |
F653S |
probably damaging |
Het |
Myo1e |
T |
C |
9: 70,250,417 (GRCm39) |
|
probably null |
Het |
Myo5a |
G |
T |
9: 75,023,618 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,073,489 (GRCm39) |
D118V |
probably damaging |
Het |
Npat |
T |
C |
9: 53,483,920 (GRCm39) |
F1412S |
probably damaging |
Het |
Onecut3 |
G |
T |
10: 80,331,541 (GRCm39) |
A234S |
unknown |
Het |
Or1ad1 |
G |
A |
11: 50,875,602 (GRCm39) |
E25K |
probably benign |
Het |
Or8b37 |
T |
G |
9: 37,959,436 (GRCm39) |
L306R |
probably benign |
Het |
Osbpl6 |
T |
A |
2: 76,376,344 (GRCm39) |
I73K |
probably damaging |
Het |
Otog |
C |
T |
7: 45,937,943 (GRCm39) |
T1884I |
probably benign |
Het |
Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
Pias4 |
A |
G |
10: 80,999,868 (GRCm39) |
Y62H |
possibly damaging |
Het |
Pknox1 |
T |
A |
17: 31,809,687 (GRCm39) |
V97D |
possibly damaging |
Het |
Plekhf1 |
A |
G |
7: 37,921,022 (GRCm39) |
V182A |
probably damaging |
Het |
Plscr4 |
T |
C |
9: 92,366,833 (GRCm39) |
V149A |
probably damaging |
Het |
Polr2l |
A |
T |
7: 141,053,309 (GRCm39) |
L35Q |
probably damaging |
Het |
Ppp3ca |
T |
C |
3: 136,596,250 (GRCm39) |
I305T |
probably damaging |
Het |
Ptprg |
G |
A |
14: 12,122,068 (GRCm38) |
A311T |
probably benign |
Het |
Raet1e |
T |
G |
10: 22,057,231 (GRCm39) |
I185R |
probably damaging |
Het |
Rims1 |
A |
C |
1: 22,518,543 (GRCm39) |
V520G |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,416,101 (GRCm39) |
D1670E |
probably damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,587,868 (GRCm39) |
I352N |
probably damaging |
Het |
Rtp3 |
T |
C |
9: 110,816,418 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,563,376 (GRCm39) |
|
probably null |
Het |
Sall3 |
A |
G |
18: 81,017,691 (GRCm39) |
V79A |
probably damaging |
Het |
Sdsl |
C |
T |
5: 120,600,119 (GRCm39) |
V93M |
probably damaging |
Het |
Slc7a13 |
A |
G |
4: 19,819,390 (GRCm39) |
N197D |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,709,483 (GRCm39) |
R137* |
probably null |
Het |
Stxbp5 |
C |
A |
10: 9,646,367 (GRCm39) |
R115L |
probably damaging |
Het |
Tcea1 |
G |
A |
1: 4,965,167 (GRCm39) |
R290H |
probably damaging |
Het |
Tmem132e |
A |
T |
11: 82,325,338 (GRCm39) |
T113S |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,458 (GRCm39) |
I286N |
probably damaging |
Het |
Trio |
G |
A |
15: 27,732,624 (GRCm39) |
R3086* |
probably null |
Het |
Usp22 |
T |
A |
11: 61,051,462 (GRCm39) |
N294Y |
probably damaging |
Het |
Usp44 |
T |
A |
10: 93,681,933 (GRCm39) |
S128T |
probably benign |
Het |
Zc3h7b |
T |
C |
15: 81,653,384 (GRCm39) |
|
probably null |
Het |
Zfhx2 |
T |
C |
14: 55,304,372 (GRCm39) |
Y1204C |
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 |
|
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'- CTGGAGAATTCTCTAATCGTTAAGG -3'
(R):5'- GAAGCCAGTATAAGCCTTGAGG -3'
Sequencing Primer
(F):5'- GAAATTGTCCCTTACCCCTAGATAGG -3'
(R):5'- AAGCCTTGAGGATTACTAAAAGAAC -3'
|
Posted On |
2015-11-11 |