Incidental Mutation 'IGL02644:Mtf1'
| ID |
301884 |
| 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 # |
IGL02644
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
124696342-124743593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 124714028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 146
(C146G)
|
| 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: C146G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890
AA Change: C146G
| 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: C146G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890
AA Change: C146G
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
T |
3: 151,198,007 (GRCm39) |
Y89F |
probably benign |
Het |
| Agl |
A |
G |
3: 116,580,246 (GRCm39) |
Y406H |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,711,828 (GRCm39) |
|
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,776 (GRCm39) |
D511G |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,266,589 (GRCm39) |
Y546H |
probably damaging |
Het |
| Asap1 |
G |
T |
15: 63,982,911 (GRCm39) |
P806T |
probably damaging |
Het |
| Aspa |
T |
A |
11: 73,212,992 (GRCm39) |
T117S |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bspry |
A |
T |
4: 62,414,565 (GRCm39) |
H386L |
probably damaging |
Het |
| C1qc |
T |
C |
4: 136,617,629 (GRCm39) |
T156A |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,708,905 (GRCm39) |
M1T |
probably null |
Het |
| Copz2 |
A |
T |
11: 96,744,257 (GRCm39) |
|
probably benign |
Het |
| Cybb |
A |
G |
X: 9,333,395 (GRCm39) |
V23A |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,058,730 (GRCm39) |
D390V |
possibly damaging |
Het |
| Dennd10 |
T |
A |
19: 60,810,741 (GRCm39) |
S43T |
possibly damaging |
Het |
| Dpy19l2 |
G |
T |
9: 24,569,888 (GRCm39) |
P355Q |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,713,250 (GRCm39) |
Q71L |
probably benign |
Het |
| Gpd1l |
T |
C |
9: 114,732,725 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,265,100 (GRCm39) |
D2761G |
probably damaging |
Het |
| Ifi202b |
T |
A |
1: 173,799,280 (GRCm39) |
H256L |
probably benign |
Het |
| Igkv8-24 |
T |
C |
6: 70,193,872 (GRCm39) |
Y112C |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,658,910 (GRCm39) |
R2022Q |
probably benign |
Het |
| Mroh4 |
T |
A |
15: 74,482,224 (GRCm39) |
R675S |
possibly damaging |
Het |
| Nubpl |
A |
G |
12: 52,317,841 (GRCm39) |
D178G |
probably damaging |
Het |
| Or7e165 |
A |
C |
9: 19,695,010 (GRCm39) |
I194L |
probably benign |
Het |
| Pam16 |
A |
G |
16: 4,434,697 (GRCm39) |
S91P |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,232 (GRCm39) |
E404G |
probably benign |
Het |
| Pde7a |
C |
A |
3: 19,311,031 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,303,043 (GRCm39) |
G529V |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,923,938 (GRCm39) |
Y722C |
probably damaging |
Het |
| Ppm1m |
A |
T |
9: 106,074,082 (GRCm39) |
I241N |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,311,834 (GRCm39) |
Y282C |
probably damaging |
Het |
| Rpl27 |
T |
A |
11: 101,336,317 (GRCm39) |
|
probably benign |
Het |
| Scaf1 |
A |
G |
7: 44,655,357 (GRCm39) |
|
probably benign |
Het |
| Sec14l2 |
A |
T |
11: 4,053,380 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
T |
A |
17: 71,667,016 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
T |
12: 76,652,391 (GRCm39) |
D1615E |
probably damaging |
Het |
| Stt3a |
A |
C |
9: 36,663,649 (GRCm39) |
C198G |
possibly damaging |
Het |
| Tas2r144 |
T |
C |
6: 42,192,787 (GRCm39) |
S176P |
possibly damaging |
Het |
| Tlr13 |
A |
G |
X: 105,200,503 (GRCm39) |
D80G |
probably benign |
Het |
| Tmco4 |
A |
G |
4: 138,737,920 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,109 (GRCm39) |
C132S |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,698,733 (GRCm39) |
D406G |
probably damaging |
Het |
| Vmn2r125 |
G |
A |
4: 156,703,294 (GRCm39) |
R224Q |
probably benign |
Het |
| Zfp524 |
C |
A |
7: 5,020,479 (GRCm39) |
D2E |
probably damaging |
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 |
|
IGL02493:Mtf1
|
APN |
4 |
124,715,112 (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