Incidental Mutation 'IGL03018:Mtf1'
| ID |
407967 |
| 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 # |
IGL03018
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
124696342-124743593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124732456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 505
(A505T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030723]
[ENSMUST00000106193]
|
| AlphaFold |
Q07243 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030723
AA Change: A505T
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890
AA Change: A505T
| 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 benign
Transcript: ENSMUST00000106193
AA Change: A505T
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890
AA Change: A505T
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,451 (GRCm39) |
V474E |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,203,861 (GRCm39) |
D30E |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,129,031 (GRCm39) |
F394S |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,806,103 (GRCm39) |
F135L |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,183,803 (GRCm39) |
E239K |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,339,581 (GRCm39) |
A53V |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,318,189 (GRCm39) |
I109F |
possibly damaging |
Het |
| Lat2 |
A |
T |
5: 134,631,445 (GRCm39) |
I191N |
probably damaging |
Het |
| Naa30 |
G |
T |
14: 49,410,697 (GRCm39) |
E208D |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,117,172 (GRCm39) |
Y299H |
probably benign |
Het |
| Npc1 |
T |
A |
18: 12,347,436 (GRCm39) |
N195Y |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,277,163 (GRCm39) |
N40D |
probably damaging |
Het |
| Or5t16 |
T |
G |
2: 86,819,349 (GRCm39) |
Y57S |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,523 (GRCm39) |
M300T |
probably benign |
Het |
| Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
| Pate12 |
A |
G |
9: 36,344,723 (GRCm39) |
T84A |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,253,012 (GRCm39) |
A1217V |
probably null |
Het |
| Pdhb |
C |
T |
14: 8,171,537 (GRCm38) |
|
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,865,993 (GRCm39) |
Y75H |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,175,563 (GRCm39) |
S748P |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,788,789 (GRCm39) |
V521A |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,816,294 (GRCm39) |
K347E |
probably damaging |
Het |
| Selenom |
A |
G |
11: 3,466,508 (GRCm39) |
D63G |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,501,520 (GRCm39) |
V487A |
possibly damaging |
Het |
| Tapt1 |
A |
T |
5: 44,361,666 (GRCm39) |
M109K |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,333 (GRCm39) |
F301S |
probably damaging |
Het |
| Tspyl1 |
T |
C |
10: 34,159,112 (GRCm39) |
V279A |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,264,972 (GRCm39) |
V1184I |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,044 (GRCm39) |
I526V |
probably benign |
Het |
| Vtcn1 |
A |
G |
3: 100,791,226 (GRCm39) |
D88G |
probably damaging |
Het |
| Yod1 |
T |
G |
1: 130,646,695 (GRCm39) |
L191V |
probably benign |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation