Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01902:Mtf1'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01902

Quality Score

Status

Chromosome

Chromosomal Location

124802104-124849800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124804927 bp

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]

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: 43,497,843	S228P	probably damaging	Het
Adamtsl2	A	T	2: 27,087,252	I242F	probably damaging	Het
Bicdl1	A	G	5: 115,651,874	L284P	probably damaging	Het
Bnc2	A	G	4: 84,390,944	I138T	probably damaging	Het
Cep350	A	G	1: 155,861,985	L2704S	probably damaging	Het
Col7a1	C	A	9: 108,977,827	P2442T	unknown	Het
Cpne6	A	T	14: 55,512,750	T113S	possibly damaging	Het
Crnkl1	T	C	2: 145,924,712		probably null	Het
Cyp2c67	T	A	19: 39,649,026	D2V	probably damaging	Het
Frzb	T	A	2: 80,413,367	S323C	probably damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Ins2	C	T	7: 142,679,442	C31Y	probably damaging	Het
Lipf	A	T	19: 33,970,779	N234Y	probably benign	Het
Nrxn1	A	G	17: 91,088,491		probably null	Het
Pcnx	A	G	12: 81,979,094	T1538A	probably damaging	Het
Polr1a	T	A	6: 71,963,748	V47D	probably damaging	Het
Prune2	A	G	19: 17,118,638	E502G	probably benign	Het
Ralgapa2	C	T	2: 146,315,014	V1886M	probably damaging	Het
Rapgef3	T	A	15: 97,750,300	H676L	probably benign	Het
Rbm20	A	T	19: 53,840,991	N607Y	probably damaging	Het
Smc5	G	A	19: 23,259,768	T233I	possibly damaging	Het
Snx13	A	T	12: 35,133,307		probably null	Het
Suz12	T	A	11: 80,025,950	C510S	probably benign	Het
Tab2	A	T	10: 7,919,992	M242K	probably benign	Het
Tep1	A	G	14: 50,866,091		probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Mtf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02491:Mtf1	APN	4	124838579	missense	probably benign	0.00
IGL02493:Mtf1	APN	4	124821319	missense	probably damaging	1.00
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
R7730:Mtf1	UTSW	4	124838619	missense	possibly damaging	0.49
R7739:Mtf1	UTSW	4	124824288	missense	probably damaging	1.00
R8234:Mtf1	UTSW	4	124844246	missense	probably benign	0.44
X0018:Mtf1	UTSW	4	124838847	missense	possibly damaging	0.62

Posted On

2014-05-07