Incidental Mutation 'R0667:Mtf2'
| ID |
62058 |
| 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 |
038852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.913)
|
| Stock # |
R0667 (G1)
|
| Quality Score |
124 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108213540-108256870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108252369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 409
(T409I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081567]
[ENSMUST00000112626]
[ENSMUST00000118036]
[ENSMUST00000124195]
[ENSMUST00000143412]
[ENSMUST00000134026]
|
| AlphaFold |
Q02395 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081567
AA Change: T466I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080278
Gene: ENSMUSG00000029267
AA Change: T466I
| 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 damaging
Transcript: ENSMUST00000112626
AA Change: T409I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108245
Gene: ENSMUSG00000029267
AA Change: T409I
| 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: ENSMUST00000198662
|
| 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 |
|
| 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 |
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: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
98% (64/65) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
T |
11: 110,218,637 (GRCm39) |
N76K |
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,962,115 (GRCm39) |
S1143P |
probably benign |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,052,425 (GRCm39) |
S234P |
probably benign |
Het |
| Cd200 |
T |
A |
16: 45,215,220 (GRCm39) |
I144L |
probably benign |
Het |
| Cep76 |
A |
T |
18: 67,767,848 (GRCm39) |
L228Q |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,535,744 (GRCm39) |
L2584S |
probably damaging |
Het |
| Col6a3 |
A |
C |
1: 90,755,823 (GRCm39) |
D155E |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,907,158 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
C |
18: 20,706,556 (GRCm39) |
D24A |
possibly damaging |
Het |
| Gm5901 |
G |
A |
7: 105,026,697 (GRCm39) |
S155N |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,247,644 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
G |
11: 104,234,364 (GRCm39) |
V714A |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,188,346 (GRCm39) |
S936T |
probably benign |
Het |
| Klhdc3 |
A |
T |
17: 46,988,151 (GRCm39) |
F205I |
probably benign |
Het |
| Krt31 |
T |
A |
11: 99,938,951 (GRCm39) |
H290L |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,220,406 (GRCm39) |
|
probably null |
Het |
| Mep1a |
T |
G |
17: 43,789,081 (GRCm39) |
D565A |
probably benign |
Het |
| Mgme1 |
T |
A |
2: 144,120,907 (GRCm39) |
|
probably benign |
Het |
| Mylk3 |
A |
G |
8: 86,081,794 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
G |
11: 75,559,338 (GRCm39) |
E650G |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,390,488 (GRCm39) |
D260E |
possibly damaging |
Het |
| Nufip2 |
T |
A |
11: 77,582,839 (GRCm39) |
V251D |
possibly damaging |
Het |
| Or2n1e |
C |
A |
17: 38,586,048 (GRCm39) |
P129T |
probably damaging |
Het |
| Or4a2 |
T |
C |
2: 89,248,032 (GRCm39) |
I242V |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,743 (GRCm39) |
N303K |
probably benign |
Het |
| Osm |
G |
T |
11: 4,189,918 (GRCm39) |
R234L |
possibly damaging |
Het |
| Pabpc1 |
G |
A |
15: 36,598,275 (GRCm39) |
A515V |
probably benign |
Het |
| Piwil1 |
T |
A |
5: 128,818,542 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
G |
3: 28,133,327 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
C |
T |
12: 76,623,372 (GRCm39) |
R871C |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,749,555 (GRCm39) |
Y1147F |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,441,743 (GRCm39) |
Y240C |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,266,311 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,875,583 (GRCm39) |
I908T |
probably damaging |
Het |
| Sae1 |
A |
T |
7: 16,102,457 (GRCm39) |
N172K |
probably damaging |
Het |
| Satb1 |
T |
G |
17: 52,089,889 (GRCm39) |
Q319H |
probably damaging |
Het |
| Scart2 |
C |
G |
7: 139,841,450 (GRCm39) |
S251R |
possibly damaging |
Het |
| Scn2a |
A |
T |
2: 65,582,340 (GRCm39) |
I1563F |
possibly damaging |
Het |
| Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
| Serpinb9b |
T |
A |
13: 33,216,909 (GRCm39) |
L60* |
probably null |
Het |
| Setd1a |
A |
G |
7: 127,385,765 (GRCm39) |
D281G |
probably damaging |
Het |
| Slc8a1 |
C |
A |
17: 81,956,310 (GRCm39) |
V243F |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
| Tiam1 |
C |
A |
16: 89,694,872 (GRCm39) |
S195I |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,086,113 (GRCm39) |
V803A |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
probably benign |
Het |
| Tyk2 |
A |
C |
9: 21,020,167 (GRCm39) |
V997G |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,617,677 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r107 |
A |
C |
17: 20,575,916 (GRCm39) |
Y82S |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,503 (GRCm39) |
F792L |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,858,855 (GRCm39) |
W2768* |
probably null |
Het |
| Zfp456 |
A |
T |
13: 67,514,861 (GRCm39) |
C282S |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,561 (GRCm39) |
N562D |
possibly damaging |
Het |
| Zmynd15 |
G |
T |
11: 70,355,944 (GRCm39) |
G481C |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTCCTCCTGGCCCATATACAAG -3'
(R):5'- CTGTAGCCAGTCCTACAAGTATACCCC -3'
Sequencing Primer
(F):5'- AAACTGCTGAGCTACCTTTGG -3'
(R):5'- gtcctacaagtatacccctATATGCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation