Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02491:Mtf1'

295633

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 #

IGL02491

Quality Score

Status

Chromosome

Chromosomal Location

124696342-124743593 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124732372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 477 (F477L)

Ref Sequence

ENSEMBL: ENSMUSP00000101799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030723] [ENSMUST00000106193]

AlphaFold

Q07243

Predicted Effect

probably benign
Transcript: ENSMUST00000030723
AA Change: F477L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890
AA Change: F477L

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: ENSMUST00000106193
AA Change: F477L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890
AA Change: F477L

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,067,794 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,330,166 (GRCm39)	I443N	probably damaging	Het
C1qtnf3	A	T	15: 10,972,067 (GRCm39)	I118F	possibly damaging	Het
Carmil3	C	T	14: 55,741,974 (GRCm39)	A1148V	probably benign	Het
Ccdc62	A	T	5: 124,099,378 (GRCm39)	S677C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col11a2	C	A	17: 34,283,181 (GRCm39)		probably benign	Het
Cpsf7	A	G	19: 10,517,001 (GRCm39)	I368V	possibly damaging	Het
Csmd2	T	C	4: 128,428,050 (GRCm39)	S2934P	probably benign	Het
Csmd3	A	G	15: 47,777,511 (GRCm39)		probably benign	Het
Cubn	A	G	2: 13,326,039 (GRCm39)	Y2709H	probably damaging	Het
Cyp2d12	T	A	15: 82,442,682 (GRCm39)	L375Q	possibly damaging	Het
Etv4	A	T	11: 101,674,791 (GRCm39)		probably null	Het
Exph5	T	A	9: 53,286,343 (GRCm39)	D1141E	possibly damaging	Het
Fbxo16	T	A	14: 65,558,736 (GRCm39)	H298Q	probably benign	Het
Fbxw21	T	A	9: 108,972,887 (GRCm39)	Y349F	probably benign	Het
Foxs1	G	A	2: 152,774,721 (GRCm39)	R111C	probably damaging	Het
Galnt15	T	A	14: 31,778,273 (GRCm39)	L436Q	probably damaging	Het
Gbf1	T	C	19: 46,250,979 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,577 (GRCm38)	C29*	probably null	Het
Hcn1	A	G	13: 117,946,576 (GRCm39)	D317G	unknown	Het
Itgam	A	G	7: 127,715,190 (GRCm39)	N877D	possibly damaging	Het
Kcnma1	T	C	14: 23,361,757 (GRCm39)	R1047G	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lpcat2	T	C	8: 93,600,879 (GRCm39)	V241A	probably damaging	Het
Mnat1	A	G	12: 73,170,682 (GRCm39)	N24S	probably null	Het
Mprip	A	G	11: 59,660,857 (GRCm39)	T967A	probably benign	Het
Naaladl1	A	G	19: 6,159,748 (GRCm39)	E393G	possibly damaging	Het
Or10ak7	A	T	4: 118,791,358 (GRCm39)	L229H	probably damaging	Het
Or2at1	A	G	7: 99,416,540 (GRCm39)	E57G	possibly damaging	Het
Or5e1	A	G	7: 108,354,321 (GRCm39)	K86R	probably damaging	Het
Pcdhb6	A	T	18: 37,468,735 (GRCm39)	D552V	probably damaging	Het
Pglyrp3	C	T	3: 91,921,944 (GRCm39)	S4F	possibly damaging	Het
Pramel13	A	T	4: 144,121,322 (GRCm39)	M234K	probably damaging	Het
Prss27	A	T	17: 24,263,229 (GRCm39)		probably benign	Het
Slc5a9	A	G	4: 111,753,549 (GRCm39)	S51P	probably damaging	Het
Slc6a4	A	G	11: 76,918,034 (GRCm39)	Y592C	probably damaging	Het
Slc7a13	T	A	4: 19,841,404 (GRCm39)	V417D	probably damaging	Het
Spring1	T	C	5: 118,397,160 (GRCm39)	Y130H	probably benign	Het
Syne2	A	G	12: 76,118,953 (GRCm39)	T5857A	probably benign	Het
Thap1	A	C	8: 26,650,885 (GRCm39)	S52R	probably damaging	Het
Thsd4	T	C	9: 59,907,301 (GRCm39)	N158S	probably damaging	Het
Tmem147	A	T	7: 30,427,626 (GRCm39)		probably benign	Het
Trdmt1	G	A	2: 13,521,483 (GRCm39)	A311V	probably benign	Het
U2surp	T	A	9: 95,372,273 (GRCm39)	R296S	probably damaging	Het
Upf2	A	G	2: 6,030,975 (GRCm39)	D805G	unknown	Het
Usp34	T	A	11: 23,382,630 (GRCm39)	H2057Q	probably damaging	Het
Vmn2r110	T	A	17: 20,816,400 (GRCm39)	D41V	probably damaging	Het
Vmn2r16	T	A	5: 109,487,703 (GRCm39)	L192*	probably null	Het
Vnn3	T	A	10: 23,741,816 (GRCm39)	S374T	probably benign	Het
Wdr62	A	C	7: 29,942,184 (GRCm39)	D1089E	probably benign	Het
Xdh	T	A	17: 74,193,459 (GRCm39)	D1279V	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp518b	A	G	5: 38,831,123 (GRCm39)	I294T	possibly damaging	Het
Zfp983	G	A	17: 21,876,528 (GRCm39)		probably null	Het

Other mutations in Mtf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01902:Mtf1	APN	4	124,698,720 (GRCm39)	missense	probably damaging	0.99
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

2015-04-16