Incidental Mutation 'IGL02493:Mtf1'
| ID |
295742 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtf1
|
| Ensembl Gene |
ENSMUSG00000028890 |
| Gene Name |
metal response element binding transcription factor 1 |
| Synonyms |
Thyls, metalloregulatory transcription factor, MTF-1, metal response element-binding transcription factor 1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
124696342-124743593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124715112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 246
(R246W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030723]
[ENSMUST00000106193]
[ENSMUST00000138807]
|
| AlphaFold |
Q07243 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030723
AA Change: R246W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890
AA Change: R246W
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
139 |
163 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
169 |
193 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
199 |
223 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
228 |
252 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
258 |
282 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
288 |
312 |
7.37e-4 |
SMART |
|
low complexity region
|
429 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106193
AA Change: R246W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890
AA Change: R246W
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
139 |
163 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
169 |
193 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
199 |
223 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
228 |
252 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
258 |
282 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
288 |
312 |
7.37e-4 |
SMART |
|
low complexity region
|
429 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122577
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138807
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation show impaired hepatocyte development followed by embryonic liver degeneration, generalized edema, and death at ~14 days of gestation. Mutant embryonic fibroblasts show increased susceptibility to the cytotoxiceffects of cadmium and hydrogen peroxide. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
G |
15: 59,888,312 (GRCm39) |
S43R |
probably benign |
Het |
| Afap1l1 |
G |
T |
18: 61,870,594 (GRCm39) |
Q595K |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,483,402 (GRCm39) |
E202G |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,540,528 (GRCm39) |
V150A |
probably damaging |
Het |
| Bcas3 |
T |
C |
11: 85,386,708 (GRCm39) |
I381T |
probably damaging |
Het |
| Best3 |
A |
T |
10: 116,860,506 (GRCm39) |
R589W |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,959,054 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
C |
7: 7,287,243 (GRCm39) |
D728E |
probably damaging |
Het |
| Commd2 |
C |
A |
3: 57,559,080 (GRCm39) |
|
probably benign |
Het |
| Csrp1 |
T |
A |
1: 135,678,801 (GRCm39) |
F175L |
probably damaging |
Het |
| Eif3c |
A |
T |
7: 126,158,073 (GRCm39) |
N294K |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,570,789 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
G |
T |
17: 7,994,377 (GRCm39) |
P297Q |
unknown |
Het |
| Galnt13 |
A |
G |
2: 54,770,149 (GRCm39) |
I314V |
probably benign |
Het |
| Gimap6 |
T |
A |
6: 48,679,603 (GRCm39) |
K144N |
probably damaging |
Het |
| Gm10188 |
A |
T |
1: 132,157,143 (GRCm39) |
C74* |
probably null |
Het |
| Gpatch2 |
C |
T |
1: 186,965,325 (GRCm39) |
|
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,464,515 (GRCm39) |
M39K |
probably damaging |
Het |
| Has2 |
G |
T |
15: 56,531,320 (GRCm39) |
T465K |
probably damaging |
Het |
| Homer3 |
T |
A |
8: 70,742,721 (GRCm39) |
V144D |
probably benign |
Het |
| Ift140 |
A |
T |
17: 25,306,898 (GRCm39) |
K878* |
probably null |
Het |
| Ikbip |
A |
G |
10: 90,932,456 (GRCm39) |
N367D |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,821,700 (GRCm39) |
|
probably benign |
Het |
| Isca1 |
A |
G |
13: 59,910,596 (GRCm39) |
V32A |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,427,548 (GRCm39) |
N288K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,268,936 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,106,127 (GRCm39) |
D717E |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,417,647 (GRCm39) |
G1037E |
probably damaging |
Het |
| Man2a2 |
T |
A |
7: 80,019,363 (GRCm39) |
Q37L |
possibly damaging |
Het |
| Msh4 |
C |
T |
3: 153,583,545 (GRCm39) |
|
probably null |
Het |
| Mvb12b |
A |
G |
2: 33,730,221 (GRCm39) |
S57P |
probably benign |
Het |
| Nat8f5 |
A |
G |
6: 85,794,544 (GRCm39) |
F139L |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,128,985 (GRCm39) |
F400L |
probably damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,708,390 (GRCm39) |
S248T |
possibly damaging |
Het |
| Oplah |
G |
A |
15: 76,185,155 (GRCm39) |
R853* |
probably null |
Het |
| Or5b98 |
T |
C |
19: 12,931,138 (GRCm39) |
F62L |
probably benign |
Het |
| Or5p57 |
A |
T |
7: 107,665,012 (GRCm39) |
M331K |
possibly damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,914,391 (GRCm39) |
|
probably null |
Het |
| Pskh1 |
G |
A |
8: 106,656,388 (GRCm39) |
V355I |
probably benign |
Het |
| Rab31 |
A |
T |
17: 66,024,547 (GRCm39) |
M44K |
possibly damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,910,849 (GRCm39) |
V329A |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,600,908 (GRCm39) |
Y76H |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,432 (GRCm39) |
|
probably null |
Het |
| Treh |
A |
T |
9: 44,594,246 (GRCm39) |
D164V |
possibly damaging |
Het |
| Trim6 |
A |
G |
7: 103,881,847 (GRCm39) |
Y366C |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,734,479 (GRCm39) |
V251A |
probably benign |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,463 (GRCm39) |
N69I |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,433,968 (GRCm39) |
L2255P |
unknown |
Het |
|
| Other mutations in Mtf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01902:Mtf1
|
APN |
4 |
124,698,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02491:Mtf1
|
APN |
4 |
124,732,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02644:Mtf1
|
APN |
4 |
124,714,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02661:Mtf1
|
APN |
4 |
124,718,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03018:Mtf1
|
APN |
4 |
124,732,456 (GRCm39) |
missense |
probably benign |
0.44 |
|
LCD18:Mtf1
|
UTSW |
4 |
124,723,109 (GRCm39) |
intron |
probably benign |
|
|
R0443:Mtf1
|
UTSW |
4 |
124,718,075 (GRCm39) |
unclassified |
probably benign |
|
|
R0599:Mtf1
|
UTSW |
4 |
124,713,994 (GRCm39) |
splice site |
probably benign |
|
|
R1103:Mtf1
|
UTSW |
4 |
124,732,261 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2496:Mtf1
|
UTSW |
4 |
124,732,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4258:Mtf1
|
UTSW |
4 |
124,732,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4818:Mtf1
|
UTSW |
4 |
124,698,505 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5085:Mtf1
|
UTSW |
4 |
124,715,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5248:Mtf1
|
UTSW |
4 |
124,714,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5368:Mtf1
|
UTSW |
4 |
124,718,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6368:Mtf1
|
UTSW |
4 |
124,718,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6768:Mtf1
|
UTSW |
4 |
124,731,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7417:Mtf1
|
UTSW |
4 |
124,718,974 (GRCm39) |
missense |
probably null |
0.00 |
|
R7559:Mtf1
|
UTSW |
4 |
124,713,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7730:Mtf1
|
UTSW |
4 |
124,732,412 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7739:Mtf1
|
UTSW |
4 |
124,718,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8234:Mtf1
|
UTSW |
4 |
124,738,039 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8878:Mtf1
|
UTSW |
4 |
124,715,023 (GRCm39) |
nonsense |
probably null |
|
|
R8954:Mtf1
|
UTSW |
4 |
124,698,649 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9129:Mtf1
|
UTSW |
4 |
124,698,913 (GRCm39) |
unclassified |
probably benign |
|
|
R9138:Mtf1
|
UTSW |
4 |
124,732,510 (GRCm39) |
nonsense |
probably null |
|
|
R9287:Mtf1
|
UTSW |
4 |
124,724,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Mtf1
|
UTSW |
4 |
124,732,640 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2015-04-16 |
Incidental Mutation