Incidental Mutation 'IGL02493:Mtf1'
ID295742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtf1
Ensembl Gene ENSMUSG00000028890
Gene Namemetal response element binding transcription factor 1
SynonymsThyls, metalloregulatory transcription factor, MTF-1, metal response element-binding transcription factor 1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02493
Quality Score
Status
Chromosome4
Chromosomal Location124802104-124849800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 124821319 bp
ZygosityHeterozygous
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]
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

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: ENSMUST00000106193
AA Change: R246W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890
AA Change: R246W

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 60,016,463 S43R probably benign Het
Afap1l1 G T 18: 61,737,523 Q595K possibly damaging Het
Alpk2 T C 18: 65,350,331 E202G probably benign Het
Ap3b1 T C 13: 94,404,020 V150A probably damaging Het
BC037034 T C 5: 138,263,170 probably null Het
Bcas3 T C 11: 85,495,882 I381T probably damaging Het
Best3 A T 10: 117,024,601 R589W possibly damaging Het
Birc6 A G 17: 74,652,059 probably benign Het
Clcn4 A C 7: 7,284,244 D728E probably damaging Het
Commd2 C A 3: 57,651,659 probably benign Het
Csrp1 T A 1: 135,751,063 F175L probably damaging Het
Eif3c A T 7: 126,558,901 N294K probably damaging Het
Fam184a A G 10: 53,694,693 probably null Het
Fndc1 G T 17: 7,775,545 P297Q unknown Het
Galnt13 A G 2: 54,880,137 I314V probably benign Het
Gimap6 T A 6: 48,702,669 K144N probably damaging Het
Gm10188 A T 1: 132,229,405 C74* probably null Het
Gpatch2 C T 1: 187,233,128 probably benign Het
Hace1 T A 10: 45,588,419 M39K probably damaging Het
Has2 G T 15: 56,667,924 T465K probably damaging Het
Homer3 T A 8: 70,290,071 V144D probably benign Het
Ift140 A T 17: 25,087,924 K878* probably null Het
Ikbip A G 10: 91,096,594 N367D probably damaging Het
Immt T C 6: 71,844,716 probably benign Het
Isca1 A G 13: 59,762,782 V32A possibly damaging Het
Kcnu1 T A 8: 25,937,520 N288K possibly damaging Het
Kmt2b C T 7: 30,569,511 probably benign Het
Lrguk T A 6: 34,129,192 D717E probably benign Het
Lrp1 C T 10: 127,581,778 G1037E probably damaging Het
Man2a2 T A 7: 80,369,615 Q37L possibly damaging Het
Msh4 C T 3: 153,877,908 probably null Het
Mvb12b A G 2: 33,840,209 S57P probably benign Het
Nat8f5 A G 6: 85,817,562 F139L probably benign Het
Npepps A G 11: 97,238,159 F400L probably damaging Het
Ntsr2 T A 12: 16,658,389 S248T possibly damaging Het
Olfr1450 T C 19: 12,953,774 F62L probably benign Het
Olfr480 A T 7: 108,065,805 M331K possibly damaging Het
Oplah G A 15: 76,300,955 R853* probably null Het
Plekhh2 G A 17: 84,606,963 probably null Het
Pskh1 G A 8: 105,929,756 V355I probably benign Het
Rab31 A T 17: 65,717,552 M44K possibly damaging Het
Slc5a4b A G 10: 76,075,015 V329A probably damaging Het
Slc5a7 A G 17: 54,293,880 Y76H probably damaging Het
Treh A T 9: 44,682,949 D164V possibly damaging Het
Trim6 A G 7: 104,232,640 Y366C probably benign Het
Ubr7 T C 12: 102,768,220 V251A probably benign Het
Vmn1r35 T A 6: 66,679,479 N69I possibly damaging Het
Zan A G 5: 137,435,706 L2255P unknown Het
Other mutations in Mtf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01902:Mtf1 APN 4 124804927 missense probably damaging 0.99
IGL02491:Mtf1 APN 4 124838579 missense probably benign 0.00
IGL02644:Mtf1 APN 4 124820235 missense probably damaging 1.00
IGL02661:Mtf1 APN 4 124825109 missense probably damaging 0.98
IGL03018:Mtf1 APN 4 124838663 missense probably benign 0.44
LCD18:Mtf1 UTSW 4 124829316 intron probably benign
R0443:Mtf1 UTSW 4 124824282 unclassified probably benign
R0599:Mtf1 UTSW 4 124820201 splice site probably benign
R1103:Mtf1 UTSW 4 124838468 missense probably benign 0.28
R2496:Mtf1 UTSW 4 124838904 missense probably benign 0.01
R4258:Mtf1 UTSW 4 124838783 missense probably benign 0.00
R4818:Mtf1 UTSW 4 124804712 start codon destroyed probably null 1.00
R5085:Mtf1 UTSW 4 124821308 missense probably damaging 1.00
R5248:Mtf1 UTSW 4 124820427 missense probably damaging 1.00
R5368:Mtf1 UTSW 4 124825079 missense probably damaging 0.98
R6368:Mtf1 UTSW 4 124824352 missense probably damaging 1.00
R6768:Mtf1 UTSW 4 124837785 missense probably benign 0.01
R7417:Mtf1 UTSW 4 124825181 missense probably null 0.00
R7559:Mtf1 UTSW 4 124820206 missense probably damaging 1.00
X0018:Mtf1 UTSW 4 124838847 missense possibly damaging 0.62
Posted On2015-04-16