Mutagenetix > Incidental Mutation

Incidental Mutation 'R6798:Mt1'

533118

Institutional Source

Beutler Lab

Gene Symbol

Mt1

Ensembl Gene

ENSMUSG00000031765

Gene Name

metallothionein 1

Synonyms

MT-I, Mt-1

MMRRC Submission

044911-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94905710-94906955 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 94906516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034215] [ENSMUST00000211807] [ENSMUST00000212291]

AlphaFold

P02802

Predicted Effect

unknown
Transcript: ENSMUST00000034215
AA Change: S32G

SMART Domains

Protein: ENSMUSP00000034215
Gene: ENSMUSG00000031765
AA Change: S32G

Domain	Start	End	E-Value	Type
Pfam:Metallothio	1	61	2.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211807

Predicted Effect

unknown
Transcript: ENSMUST00000212291
AA Change: S32G

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

97% (73/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit abnormal zinc absorption and abnormal circadian rhythm response to melatonin. Mice homozygous for null alleles of Mt1 and Mt2 exhibit increased sensitivity to xenobiotics and injury with decreased wound healing and abnormal mineral aborption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,782,364 (GRCm39)	Y916H	probably damaging	Het
Adam11	A	G	11: 102,667,834 (GRCm39)	I740V	probably damaging	Het
Adam22	A	T	5: 8,210,784 (GRCm39)	D161E	probably damaging	Het
Agap3	A	G	5: 24,703,280 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,737,913 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,396,423 (GRCm39)	H867Q	possibly damaging	Het
Aurkaip1	T	C	4: 155,917,196 (GRCm39)		probably null	Het
BC048507	A	C	13: 68,011,683 (GRCm39)	D20A	probably benign	Het
Cacna1a	G	A	8: 85,338,231 (GRCm39)	A1704T	probably damaging	Het
Cep152	A	C	2: 125,408,447 (GRCm39)		probably null	Het
Cep19	T	C	16: 31,922,867 (GRCm39)		probably null	Het
Cfhr4	T	C	1: 139,625,859 (GRCm39)	T813A	probably benign	Het
Chd9	A	T	8: 91,778,182 (GRCm39)	E2731V	possibly damaging	Het
Chrd	T	C	16: 20,553,056 (GRCm39)	L139P	probably damaging	Het
Cit	A	G	5: 116,064,585 (GRCm39)	E489G	possibly damaging	Het
Clcn7	A	G	17: 25,378,734 (GRCm39)	N720D	probably damaging	Het
Col6a3	T	C	1: 90,722,731 (GRCm39)		probably null	Het
Dchs2	T	A	3: 83,255,593 (GRCm39)	Y2430N	probably damaging	Het
Dpy30	A	G	17: 74,614,751 (GRCm39)	I64T	probably damaging	Het
Eif2b3	G	T	4: 116,923,655 (GRCm39)	W290L	probably benign	Het
Epha6	T	G	16: 60,425,427 (GRCm39)	E62A	possibly damaging	Het
Epha6	C	T	16: 60,425,428 (GRCm39)	E62K	possibly damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw17	C	A	13: 50,587,300 (GRCm39)		probably null	Het
Fndc8	C	T	11: 82,783,217 (GRCm39)	T66I	probably benign	Het
Frmpd1	A	G	4: 45,284,850 (GRCm39)	T1224A	probably benign	Het
Gcm2	T	C	13: 41,259,361 (GRCm39)	D36G	probably damaging	Het
Glt28d2	T	C	3: 85,779,296 (GRCm39)	D59G	probably benign	Het
Gorasp1	T	C	9: 119,758,663 (GRCm39)	D243G	probably benign	Het
Gtsf1l	T	C	2: 162,929,391 (GRCm39)	K31E	probably benign	Het
Heatr5a	A	G	12: 51,928,048 (GRCm39)	V1816A	probably benign	Het
Il10ra	T	C	9: 45,167,730 (GRCm39)	K274E	probably damaging	Het
Il1rl2	T	C	1: 40,404,400 (GRCm39)	I507T	probably damaging	Het
Jak3	T	G	8: 72,133,615 (GRCm39)	F408V	probably damaging	Het
Kdm1b	A	G	13: 47,222,012 (GRCm39)	T484A	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Map9	T	G	3: 82,287,471 (GRCm39)	L31W	probably damaging	Het
Mical2	T	C	7: 111,975,266 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,909,252 (GRCm39)	I1964V	probably damaging	Het
Nalf1	G	A	8: 9,820,205 (GRCm39)	Q272*	probably null	Het
Nod1	A	T	6: 54,921,596 (GRCm39)	C241S	probably damaging	Het
Nrxn1	T	A	17: 90,937,378 (GRCm39)	D685V	probably damaging	Het
Oog1	A	T	12: 87,655,609 (GRCm39)		probably null	Het
Or11a4	T	G	17: 37,536,697 (GRCm39)	L227R	probably damaging	Het
Or2ag13	T	C	7: 106,313,402 (GRCm39)	Y162C	probably damaging	Het
Or4k2	A	G	14: 50,424,584 (GRCm39)	V30A	probably benign	Het
Or56b1b	T	A	7: 108,164,967 (GRCm39)	K12*	probably null	Het
P4htm	T	A	9: 108,460,117 (GRCm39)	N219I	possibly damaging	Het
Pcif1	T	C	2: 164,727,711 (GRCm39)	L168P	possibly damaging	Het
Pde4dip	A	G	3: 97,795,850 (GRCm39)	V46A	probably benign	Het
Pias1	T	C	9: 62,799,451 (GRCm39)	T480A	probably benign	Het
Prkd2	A	T	7: 16,583,128 (GRCm39)	K297*	probably null	Het
Prl7d1	T	A	13: 27,893,380 (GRCm39)		probably null	Het
Pxdc1	G	T	13: 34,836,408 (GRCm39)	A4E	possibly damaging	Het
Rcor1	A	G	12: 111,006,320 (GRCm39)		probably benign	Het
Rev3l	A	T	10: 39,730,759 (GRCm39)	D2761V	probably damaging	Het
Scgb1b7	A	G	7: 31,412,406 (GRCm39)	T61A	probably damaging	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Setd4	C	A	16: 93,386,841 (GRCm39)	V286F	probably damaging	Het
Slc22a29	A	G	19: 8,137,968 (GRCm39)	S536P	probably benign	Het
Snx25	T	C	8: 46,486,810 (GRCm39)	H977R	probably damaging	Het
Spint5	T	A	2: 164,559,060 (GRCm39)	C95*	probably null	Het
Sprr5	G	C	3: 92,440,243 (GRCm39)	C65W	unknown	Het
Srgap1	T	C	10: 121,761,809 (GRCm39)	D113G	probably damaging	Het
Stxbp2	T	A	8: 3,691,180 (GRCm39)	S476T	probably benign	Het
Tg	A	G	15: 66,550,688 (GRCm39)	T273A	probably damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trappc10	A	G	10: 78,024,665 (GRCm39)	Y1155H	probably benign	Het
Trpm2	T	A	10: 77,750,574 (GRCm39)	N1341Y	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfand1	T	G	3: 10,411,236 (GRCm39)	K67T	probably benign	Het
Zfand4	A	C	6: 116,305,214 (GRCm39)	K214Q	probably benign	Het
Zfp653	A	T	9: 21,968,668 (GRCm39)	V465E	probably damaging	Het
Zswim8	A	G	14: 20,766,060 (GRCm39)	Y782C	probably damaging	Het

Other mutations in Mt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03060:Mt1	APN	8	94,906,522 (GRCm39)	utr 3 prime	probably benign
R0635:Mt1	UTSW	8	94,906,449 (GRCm39)	critical splice acceptor site	probably null
R1317:Mt1	UTSW	8	94,906,781 (GRCm39)	utr 3 prime	probably benign
R5357:Mt1	UTSW	8	94,906,732 (GRCm39)	missense	probably damaging	0.99
Z1177:Mt1	UTSW	8	94,906,757 (GRCm39)	missense	probably damaging	0.99
Z1177:Mt1	UTSW	8	94,905,961 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGACATAATCCCTGACTTAACCTG -3'
(R):5'- TGGCTGAAGACCTCTGCTTC -3'

Sequencing Primer
(F):5'- ATCCCTGACTTAACCTGTGAGGAG -3'
(R):5'- GAAGACCTCTGCTTCCTGTC -3'

Posted On

2018-08-29