Mutagenetix > Incidental Mutation

Incidental Mutation 'R5085:Mtf1'

387360

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

042674-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124696342-124743593 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124715101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 242 (L242P)

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: L242P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890
AA Change: L242P

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: ENSMUST00000106193
AA Change: L242P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890
AA Change: L242P

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

noncoding transcript
Transcript: ENSMUST00000122577

Predicted Effect

probably benign
Transcript: ENSMUST00000138807

Meta Mutation Damage Score

0.3353

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

92% (69/75)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,653,837 (GRCm39)	K129*	probably null	Het
Adamts6	A	T	13: 104,443,751 (GRCm39)	D162V	probably damaging	Het
Alms1	C	A	6: 85,597,714 (GRCm39)	P1316T	possibly damaging	Het
AU040320	A	T	4: 126,722,664 (GRCm39)	N394I	possibly damaging	Het
Cacng8	T	C	7: 3,464,096 (GRCm39)	L416P	possibly damaging	Het
Ccdc136	T	A	6: 29,419,313 (GRCm39)	N944K	probably damaging	Het
Clcn1	C	T	6: 42,290,814 (GRCm39)	T896I	probably benign	Het
Col16a1	A	T	4: 129,947,964 (GRCm39)	Y228F	probably damaging	Het
Cyfip1	A	G	7: 55,548,083 (GRCm39)	D561G	probably benign	Het
Ddr1	T	A	17: 35,993,667 (GRCm39)		probably null	Het
Dedd2	A	T	7: 24,918,411 (GRCm39)	L48Q	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dph3b-ps	A	G	13: 106,683,558 (GRCm39)		noncoding transcript	Het
Dppa3	T	C	6: 122,606,891 (GRCm39)	F127S	probably damaging	Het
Dpy19l4	C	T	4: 11,265,943 (GRCm39)		probably null	Het
Flrt3	T	C	2: 140,502,177 (GRCm39)	T484A	probably damaging	Het
Gldc	T	C	19: 30,128,936 (GRCm39)	E179G	probably damaging	Het
Gm14403	A	G	2: 177,200,282 (GRCm39)	E76G	probably benign	Het
Gm6421	G	A	13: 117,494,969 (GRCm39)		noncoding transcript	Het
Grk5	T	C	19: 61,065,122 (GRCm39)	V262A	probably damaging	Het
Grp	A	G	18: 66,013,230 (GRCm39)	Q132R	probably benign	Het
Hap1	A	G	11: 100,246,537 (GRCm39)	F123L	probably damaging	Het
Hrc	A	G	7: 44,986,445 (GRCm39)	D532G	probably damaging	Het
Igsf9b	C	A	9: 27,228,733 (GRCm39)	F164L	probably benign	Het
Irag1	G	T	7: 110,470,700 (GRCm39)	L672I	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kansl1	C	T	11: 104,315,168 (GRCm39)	R290Q	probably damaging	Het
Kifc2	T	A	15: 76,545,496 (GRCm39)	L81Q	probably damaging	Het
Klrc3	T	C	6: 129,616,538 (GRCm39)	R160G	probably damaging	Het
Mal	A	G	2: 127,482,193 (GRCm39)	M70T	probably benign	Het
Mep1a	T	G	17: 43,789,035 (GRCm39)	R580S	probably damaging	Het
Methig1	A	T	15: 100,251,130 (GRCm39)	I14F	probably damaging	Het
Nfkb1	C	A	3: 135,309,568 (GRCm39)	A509S	probably benign	Het
Or2h2b-ps1	C	G	17: 37,480,858 (GRCm39)	S227T	probably benign	Het
Or2n1b	G	A	17: 38,460,003 (GRCm39)	D175N	probably damaging	Het
Or5ac24	A	T	16: 59,165,449 (GRCm39)	I205K	probably damaging	Het
Or7a36	G	T	10: 78,819,928 (GRCm39)	M101I	probably benign	Het
Or8k23	A	T	2: 86,186,318 (GRCm39)	M136K	probably damaging	Het
Pabpc2	A	T	18: 39,907,635 (GRCm39)	N300I	probably damaging	Het
Peg10	C	T	6: 4,755,864 (GRCm39)		probably benign	Het
Ppp1r3a	T	A	6: 14,719,603 (GRCm39)	D437V	probably damaging	Het
Prickle1	A	G	15: 93,398,783 (GRCm39)	S682P	probably damaging	Het
Prkab2	T	C	3: 97,580,308 (GRCm39)		probably benign	Het
Pus3	T	A	9: 35,476,932 (GRCm39)	L243Q	possibly damaging	Het
Relch	A	G	1: 105,605,905 (GRCm39)	S182G	probably damaging	Het
Rgs19	G	A	2: 181,331,336 (GRCm39)	T99M	possibly damaging	Het
Ripk2	A	G	4: 16,127,663 (GRCm39)	S360P	possibly damaging	Het
Rock1	A	G	18: 10,140,210 (GRCm39)	I127T	probably damaging	Het
Serpinb10	T	G	1: 107,469,947 (GRCm39)	M143R	probably damaging	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Skint6	T	A	4: 113,093,465 (GRCm39)	Q226L	probably damaging	Het
Slc6a19	T	C	13: 73,839,872 (GRCm39)	M137V	probably benign	Het
Supv3l1	A	T	10: 62,271,291 (GRCm39)	N415K	probably benign	Het
Tekt4	A	G	17: 25,692,749 (GRCm39)	R192G	probably damaging	Het
Trgv7	A	T	13: 19,362,598 (GRCm39)	K96*	probably null	Het
Tshz1	T	C	18: 84,032,053 (GRCm39)	N785S	probably benign	Het
Usb1	A	G	8: 96,070,679 (GRCm39)	T202A	probably damaging	Het
Utp18	A	T	11: 93,761,363 (GRCm39)	D348E	possibly damaging	Het
Vmn1r42	T	G	6: 89,821,598 (GRCm39)	I324L	probably benign	Het
Wnt8a	A	T	18: 34,678,656 (GRCm39)	R157*	probably null	Het
Ypel1	A	G	16: 16,902,472 (GRCm39)		probably null	Het
Zfp235	A	G	7: 23,836,546 (GRCm39)	K31E	probably damaging	Het
Zhx2	G	C	15: 57,686,089 (GRCm39)	W486S	probably damaging	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
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
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'- CCTCGATCCTATGGTGTGATAG -3'
(R):5'- GAGGCAGAATGGTCACCATC -3'

Sequencing Primer
(F):5'- CCTATGGTGTGATAGGCTGACACC -3'
(R):5'- TCTGACCTACAGTAGTCGATCAGAG -3'

Posted On

2016-06-06