Incidental Mutation 'IGL01902:Mtf1'
ID |
179566 |
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 # |
IGL01902
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
124696342-124743593 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124698720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 73
(F73L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101799
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030723]
[ENSMUST00000094782]
[ENSMUST00000106193]
[ENSMUST00000138807]
[ENSMUST00000175875]
[ENSMUST00000184454]
|
AlphaFold |
Q07243 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030723
AA Change: F73L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030723 Gene: ENSMUSG00000028890 AA Change: F73L
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: ENSMUST00000094782
|
SMART Domains |
Protein: ENSMUSP00000092375 Gene: ENSMUSG00000028894
Domain | Start | End | E-Value | Type |
Pfam:INPP5B_PH
|
1 |
150 |
4.3e-61 |
PFAM |
low complexity region
|
206 |
220 |
N/A |
INTRINSIC |
IPPc
|
343 |
644 |
6.29e-126 |
SMART |
Blast:RhoGAP
|
706 |
732 |
1e-7 |
BLAST |
Blast:RhoGAP
|
755 |
809 |
2e-24 |
BLAST |
RhoGAP
|
827 |
993 |
6.77e-37 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106193
AA Change: F73L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101799 Gene: ENSMUSG00000028890 AA Change: F73L
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: ENSMUST00000138807
AA Change: F73L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147452
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175875
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184454
|
SMART Domains |
Protein: ENSMUSP00000139221 Gene: ENSMUSG00000028894
Domain | Start | End | E-Value | Type |
PDB:2KIG|A
|
1 |
156 |
1e-105 |
PDB |
low complexity region
|
206 |
220 |
N/A |
INTRINSIC |
IPPc
|
343 |
644 |
6.29e-126 |
SMART |
PDB:3QBT|H
|
645 |
782 |
6e-49 |
PDB |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
G |
7: 43,147,267 (GRCm39) |
S228P |
probably damaging |
Het |
Adamtsl2 |
A |
T |
2: 26,977,264 (GRCm39) |
I242F |
probably damaging |
Het |
Bicdl1 |
A |
G |
5: 115,789,933 (GRCm39) |
L284P |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,309,181 (GRCm39) |
I138T |
probably damaging |
Het |
Cep350 |
A |
G |
1: 155,737,731 (GRCm39) |
L2704S |
probably damaging |
Het |
Col7a1 |
C |
A |
9: 108,806,895 (GRCm39) |
P2442T |
unknown |
Het |
Cpne6 |
A |
T |
14: 55,750,207 (GRCm39) |
T113S |
possibly damaging |
Het |
Crnkl1 |
T |
C |
2: 145,766,632 (GRCm39) |
|
probably null |
Het |
Cyp2c67 |
T |
A |
19: 39,637,470 (GRCm39) |
D2V |
probably damaging |
Het |
Frzb |
T |
A |
2: 80,243,711 (GRCm39) |
S323C |
probably damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Ins2 |
C |
T |
7: 142,233,179 (GRCm39) |
C31Y |
probably damaging |
Het |
Lipf |
A |
T |
19: 33,948,179 (GRCm39) |
N234Y |
probably benign |
Het |
Nrxn1 |
A |
G |
17: 91,395,919 (GRCm39) |
|
probably null |
Het |
Pcnx1 |
A |
G |
12: 82,025,868 (GRCm39) |
T1538A |
probably damaging |
Het |
Polr1a |
T |
A |
6: 71,940,732 (GRCm39) |
V47D |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,096,002 (GRCm39) |
E502G |
probably benign |
Het |
Ralgapa2 |
C |
T |
2: 146,156,934 (GRCm39) |
V1886M |
probably damaging |
Het |
Rapgef3 |
T |
A |
15: 97,648,181 (GRCm39) |
H676L |
probably benign |
Het |
Rbm20 |
A |
T |
19: 53,829,422 (GRCm39) |
N607Y |
probably damaging |
Het |
Smc5 |
G |
A |
19: 23,237,132 (GRCm39) |
T233I |
possibly damaging |
Het |
Snx13 |
A |
T |
12: 35,183,306 (GRCm39) |
|
probably null |
Het |
Suz12 |
T |
A |
11: 79,916,776 (GRCm39) |
C510S |
probably benign |
Het |
Tab2 |
A |
T |
10: 7,795,756 (GRCm39) |
M242K |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,103,548 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Mtf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-05-07 |