Incidental Mutation 'R5368:Mtf1'
ID 429468
Institutional Source Beutler Lab
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
MMRRC Submission 043204-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5368 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 124696342-124743593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124718872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 295 (C295Y)
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: C295Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890
AA Change: C295Y

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: C295Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890
AA Change: C295Y

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
Meta Mutation Damage Score 0.9678 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (61/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,925 (GRCm39) H97L possibly damaging Het
Abca9 T A 11: 110,036,372 (GRCm39) N579I probably damaging Het
Acbd3 A T 1: 180,549,660 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,509,199 (GRCm39) I1056N probably damaging Het
Ceacam18 T C 7: 43,291,458 (GRCm39) V300A probably benign Het
Cfap46 C A 7: 139,207,389 (GRCm39) R1843S possibly damaging Het
D430041D05Rik A G 2: 104,078,629 (GRCm39) V1229A probably damaging Het
Dbx2 G A 15: 95,538,522 (GRCm39) S206L probably benign Het
Dnah11 A T 12: 117,918,628 (GRCm39) D1530E probably damaging Het
Ecm2 A C 13: 49,674,419 (GRCm39) T280P probably benign Het
Emc2 G A 15: 43,375,207 (GRCm39) probably null Het
Epb42 C T 2: 120,849,943 (GRCm39) V689I probably benign Het
Fam114a1 T A 5: 65,163,452 (GRCm39) M209K possibly damaging Het
Fam117a C T 11: 95,266,459 (GRCm39) S193F probably damaging Het
Foxp2 A T 6: 15,377,913 (GRCm39) probably benign Het
Frmd6 T A 12: 70,910,874 (GRCm39) C19* probably null Het
Fyb1 A G 15: 6,610,159 (GRCm39) probably null Het
Gata6 C A 18: 11,063,059 (GRCm39) H442Q possibly damaging Het
Gldc A G 19: 30,135,921 (GRCm39) S160P probably benign Het
Gm3952 A G 8: 129,472,455 (GRCm39) S1626P possibly damaging Het
Gm9762 T A 3: 78,873,742 (GRCm39) noncoding transcript Het
Gtpbp2 T C 17: 46,477,230 (GRCm39) probably benign Het
Hgd A T 16: 37,410,113 (GRCm39) T50S probably benign Het
Itpr1 C T 6: 108,364,459 (GRCm39) T22M probably damaging Het
Kif26b G A 1: 178,743,449 (GRCm39) E1182K probably damaging Het
Kirrel3 A G 9: 34,919,034 (GRCm39) E230G probably damaging Het
Leng8 A G 7: 4,142,987 (GRCm39) Y88C probably damaging Het
Lpo T C 11: 87,711,895 (GRCm39) D54G possibly damaging Het
Lypd2 G T 15: 74,604,908 (GRCm39) A29E probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mical3 T C 6: 120,936,434 (GRCm39) Y1364C probably damaging Het
Mroh2b A G 15: 4,935,054 (GRCm39) N163S probably damaging Het
Nbn T A 4: 15,969,391 (GRCm39) L212Q probably damaging Het
Obscn A T 11: 58,959,852 (GRCm39) probably null Het
Or10ag56 T A 2: 87,139,126 (GRCm39) probably null Het
Or4c110 A G 2: 88,832,435 (GRCm39) S66P probably damaging Het
Peli1 A G 11: 21,098,389 (GRCm39) T375A probably damaging Het
Picalm T C 7: 89,856,803 (GRCm39) *611Q probably null Het
Plch1 G T 3: 63,609,394 (GRCm39) Q938K possibly damaging Het
Plxnb2 A G 15: 89,043,796 (GRCm39) V1352A possibly damaging Het
Pmepa1 G A 2: 173,070,115 (GRCm39) R147W probably damaging Het
Prdm16 T G 4: 154,429,848 (GRCm39) K373Q probably damaging Het
Qki T G 17: 10,457,964 (GRCm39) E135A probably damaging Het
Rad50 T C 11: 53,575,073 (GRCm39) K556E probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sin3a T A 9: 57,018,084 (GRCm39) D834E possibly damaging Het
Smg8 G A 11: 86,971,086 (GRCm39) S895L probably benign Het
Sorl1 T C 9: 41,890,686 (GRCm39) I1944M probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tmprss7 A T 16: 45,481,252 (GRCm39) W645R probably damaging Het
Tns1 T C 1: 73,980,176 (GRCm39) M1111V probably benign Het
Ttn A C 2: 76,608,726 (GRCm39) D17763E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 G A 4: 139,124,839 (GRCm39) probably benign Het
Usp31 T C 7: 121,260,588 (GRCm39) H637R probably damaging Het
Vps50 A C 6: 3,567,739 (GRCm39) E545A possibly damaging Het
Wdfy3 G T 5: 102,020,724 (GRCm39) L2527M probably damaging Het
Wfdc2 T C 2: 164,405,354 (GRCm39) V85A possibly damaging Het
Other mutations in Mtf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTTTAGAAACAGCCACGAGG -3'
(R):5'- TTAAGCAAGGACACAGCAGC -3'

Sequencing Primer
(F):5'- TTCCCTCCAGGCACAGG -3'
(R):5'- AGCAGCACACATCGCTGG -3'
Posted On 2016-09-06