Incidental Mutation 'R5357:Mt1'
ID 501120
Institutional Source Beutler Lab
Gene Symbol Mt1
Ensembl Gene ENSMUSG00000031765
Gene Name metallothionein 1
Synonyms MT-I, Mt-1
MMRRC Submission 042936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5357 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 94905710-94906955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94906732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 33 (C33S)
Ref Sequence ENSEMBL: ENSMUSP00000034215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034215] [ENSMUST00000211807] [ENSMUST00000212291]
AlphaFold P02802
PDB Structure SOLUTION STRUCTURE OF THE ALPHA-DOMAIN OF MOUSE METALLOTHIONEIN-1 [SOLUTION NMR]
SOLUTION STRUCTURE OF THE BETA-DOMAIN OF MOUSE METALLOTHIONEIN-1 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000034215
AA Change: C33S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034215
Gene: ENSMUSG00000031765
AA Change: C33S

DomainStartEndE-ValueType
Pfam:Metallothio 1 61 2.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211807
Predicted Effect unknown
Transcript: ENSMUST00000212291
AA Change: C104S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212456
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.4%
  • 10x: 94.5%
  • 20x: 87.7%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,182,463 (GRCm39) V206A possibly damaging Het
5730522E02Rik A T 11: 25,598,148 (GRCm39) C102* probably null Het
Brsk2 C A 7: 141,538,248 (GRCm39) D131E possibly damaging Het
Cacng7 T C 7: 3,387,452 (GRCm39) F112L probably benign Het
Ceacam12 T A 7: 17,811,384 (GRCm39) C282* probably null Het
Dnm1 T C 2: 32,226,253 (GRCm39) D312G probably null Het
Dyrk1b T C 7: 27,884,743 (GRCm39) V326A possibly damaging Het
Eloa T C 4: 135,736,559 (GRCm39) D563G probably benign Het
Evi5l A G 8: 4,253,623 (GRCm39) K489R possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Galntl6 T C 8: 58,337,497 (GRCm39) E326G probably damaging Het
Gm1758 G A 16: 14,320,218 (GRCm39) noncoding transcript Het
Grm8 A T 6: 27,762,418 (GRCm39) L269Q probably damaging Het
Hsd17b12 A G 2: 93,863,990 (GRCm39) I284T possibly damaging Het
Hyal6 T A 6: 24,734,517 (GRCm39) M150K probably benign Het
Ift80 T A 3: 68,898,113 (GRCm39) Q74L possibly damaging Het
Krt76 T C 15: 101,795,820 (GRCm39) K450R probably benign Het
Larp1b A G 3: 40,978,950 (GRCm39) E2G probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Map2k7 A T 8: 4,294,461 (GRCm39) H253L probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mmp2 A G 8: 93,559,780 (GRCm39) T248A possibly damaging Het
Obox5 T A 7: 15,491,463 (GRCm39) M1K probably null Het
Pak4 A G 7: 28,263,831 (GRCm39) S302P probably damaging Het
Pcsk2 T C 2: 143,415,384 (GRCm39) Y66H probably benign Het
Pgm3 G A 9: 86,438,310 (GRCm39) R451* probably null Het
Phf10 A T 17: 15,174,275 (GRCm39) probably null Het
Pkd1 T G 17: 24,784,764 (GRCm39) V402G probably damaging Het
Plekha4 G T 7: 45,184,195 (GRCm39) V61F probably damaging Het
Ppfia2 G A 10: 106,740,708 (GRCm39) probably null Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Skil A G 3: 31,167,700 (GRCm39) H444R probably benign Het
Tcn2 T G 11: 3,876,017 (GRCm39) D137A possibly damaging Het
Tnks2 G A 19: 36,826,690 (GRCm39) silent Het
Trh T A 6: 92,219,815 (GRCm39) D167V probably benign Het
Tshz1 C T 18: 84,033,205 (GRCm39) G401D probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqlnl T A 7: 103,798,138 (GRCm39) Q453L probably damaging Het
Vmn2r111 T A 17: 22,767,083 (GRCm39) K805* probably null Het
Wnt16 T G 6: 22,291,231 (GRCm39) probably benign Het
Zc3h11a A T 1: 133,550,780 (GRCm39) V665E probably damaging Het
Zfp456 A T 13: 67,520,328 (GRCm39) M63K possibly damaging Het
Zzef1 C T 11: 72,734,159 (GRCm39) Q584* probably null Het
Other mutations in Mt1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6798:Mt1 UTSW 8 94,906,516 (GRCm39) utr 3 prime probably benign
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'- GAGTGAGTTGGGACACCTTG -3'
(R):5'- CGTACTCGGTAGAAAACGGG -3'

Sequencing Primer
(F):5'- ACCTTGGGTGGCGGCTAAG -3'
(R):5'- TACTCGGTAGAAAACGGGGGTTTAG -3'
Posted On 2017-12-01