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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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