Mutagenetix > Incidental Mutation

Incidental Mutation 'R4258:Mtf1'

321893

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

041071-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4258 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124696342-124743593 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124732576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 545 (T545A)

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: T545A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890
AA Change: T545A

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: T545A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890
AA Change: T545A

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

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (60/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415M13Rik	T	A	17: 54,031,441 (GRCm39)		noncoding transcript	Het
Ank3	T	C	10: 69,840,592 (GRCm39)	I984T	probably benign	Het
Arnt2	T	C	7: 83,960,163 (GRCm39)	T204A	probably damaging	Het
Arsi	T	C	18: 61,050,388 (GRCm39)	W424R	probably damaging	Het
Aspg	A	T	12: 112,087,687 (GRCm39)	N346I	probably benign	Het
Brdt	A	G	5: 107,507,775 (GRCm39)	S668G	probably damaging	Het
Ccdc178	C	T	18: 22,150,392 (GRCm39)		probably null	Het
Cfap58	A	T	19: 47,937,923 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,363,474 (GRCm39)	H319Q	unknown	Het
Colec12	T	C	18: 9,720,950 (GRCm39)	S13P	probably damaging	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cyp2c65	A	C	19: 39,081,872 (GRCm39)	D466A	probably benign	Het
Cyp3a25	T	C	5: 145,928,248 (GRCm39)	K266E	probably damaging	Het
Dennd1b	G	T	1: 138,990,678 (GRCm39)	R214L	probably damaging	Het
Dock9	T	C	14: 121,818,854 (GRCm39)	I1533V	probably benign	Het
Dynlt1a	C	T	17: 6,361,184 (GRCm39)	M102I	probably benign	Het
Edil3	G	T	13: 89,325,272 (GRCm39)	L220F	probably damaging	Het
Eml5	A	G	12: 98,831,693 (GRCm39)	Y383H	probably benign	Het
Epc1	T	A	18: 6,450,130 (GRCm39)	T393S	probably benign	Het
Fbxo8	A	T	8: 57,041,076 (GRCm39)	D164V	probably benign	Het
Gbp4	T	A	5: 105,284,841 (GRCm39)	N16I	probably damaging	Het
Gdf6	G	A	4: 9,844,877 (GRCm39)	V134I	probably damaging	Het
Gm5475	A	G	15: 100,322,117 (GRCm39)		probably benign	Het
Gm6430	T	G	1: 96,952,561 (GRCm39)		noncoding transcript	Het
Ighv9-4	A	T	12: 114,263,765 (GRCm39)	V56E	probably damaging	Het
Il3ra	A	T	14: 14,347,961 (GRCm38)	N36Y	probably damaging	Het
Kif7	G	T	7: 79,360,261 (GRCm39)	C325*	probably null	Het
Lipo2	A	T	19: 33,708,328 (GRCm39)	F229I	possibly damaging	Het
Lrba	A	G	3: 86,352,656 (GRCm39)	K1935E	probably damaging	Het
Mki67	A	T	7: 135,297,017 (GRCm39)	D2672E	possibly damaging	Het
Mup6	A	T	4: 60,004,812 (GRCm39)		probably null	Het
Myo9b	T	C	8: 71,808,409 (GRCm39)	V1672A	probably damaging	Het
Nudt16l2	T	C	9: 105,020,767 (GRCm39)	I165V	probably damaging	Het
Or10al6	C	A	17: 38,082,949 (GRCm39)	P135Q	probably damaging	Het
Or10j5	C	T	1: 172,785,205 (GRCm39)	T281I	possibly damaging	Het
Or4k36	A	T	2: 111,145,983 (GRCm39)	H53L	probably benign	Het
Or5d37	T	A	2: 87,923,362 (GRCm39)	N306I	probably damaging	Het
Pcdhgb2	A	T	18: 37,825,102 (GRCm39)	I698F	probably damaging	Het
Pkn3	C	T	2: 29,978,572 (GRCm39)	H665Y	probably damaging	Het
Ppil6	T	A	10: 41,383,531 (GRCm39)	L99*	probably null	Het
Psg22	T	A	7: 18,458,554 (GRCm39)	V376E	probably damaging	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rasa2	A	T	9: 96,439,433 (GRCm39)		probably benign	Het
Schip1	T	A	3: 68,525,963 (GRCm39)	M379K	possibly damaging	Het
Scn9a	A	T	2: 66,395,398 (GRCm39)		probably benign	Het
Sh3tc1	C	T	5: 35,864,322 (GRCm39)	A622T	probably benign	Het
Smarcd2	A	T	11: 106,156,076 (GRCm39)	I292N	probably damaging	Het
Ssxb17	C	T	X: 21,041,167 (GRCm39)	S45N	probably damaging	Het
Stab1	G	A	14: 30,876,629 (GRCm39)	R862C	possibly damaging	Het
Tdrd5	T	A	1: 156,087,312 (GRCm39)	H870L	probably benign	Het
Tnfaip8	A	G	18: 50,223,443 (GRCm39)	R60G	possibly damaging	Het
Traf3ip3	C	T	1: 192,880,254 (GRCm39)	R25Q	probably damaging	Het
Unc5b	T	C	10: 60,601,150 (GRCm39)	Y892C	probably damaging	Het
Vmn2r2	T	G	3: 64,042,118 (GRCm39)	D199A	probably damaging	Het
Washc2	C	A	6: 116,185,202 (GRCm39)	P12Q	probably damaging	Het
Zfp286	T	C	11: 62,671,896 (GRCm39)	I121V	probably benign	Het
Zfp606	T	A	7: 12,228,267 (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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCCACAGCACACAGTTTG -3'
(R):5'- CTATATTGCATGTCACCCTACTGG -3'

Sequencing Primer
(F):5'- AGCACACAGTTTGCTGCTAATC -3'
(R):5'- CTGGGTGTGCTTACAAGTAATAC -3'

Posted On

2015-06-20