Incidental Mutation 'R5139:Tesmin'
ID 396371
Institutional Source Beutler Lab
Gene Symbol Tesmin
Ensembl Gene ENSMUSG00000024905
Gene Name testis expressed metallothionein like
Synonyms Mtl5, tesmin
MMRRC Submission 042725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5139 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 3438857-3457823 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3456934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 238 (I238V)
Ref Sequence ENSEMBL: ENSMUSP00000114171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025840] [ENSMUST00000025842] [ENSMUST00000127142] [ENSMUST00000142193]
AlphaFold Q9WTJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000025840
AA Change: I418V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025840
Gene: ENSMUSG00000024905
AA Change: I418V

DomainStartEndE-ValueType
low complexity region 91 99 N/A INTRINSIC
low complexity region 107 123 N/A INTRINSIC
Blast:CXC 246 287 4e-13 BLAST
CXC 332 373 1.37e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025842
SMART Domains Protein: ENSMUSP00000025842
Gene: ENSMUSG00000024907

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
Galanin 20 124 3.41e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127142
AA Change: I238V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122687
Gene: ENSMUSG00000024905
AA Change: I238V

DomainStartEndE-ValueType
Blast:CXC 67 107 1e-13 BLAST
CXC 152 193 1.37e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000142193
AA Change: I238V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114171
Gene: ENSMUSG00000024905
AA Change: I238V

DomainStartEndE-ValueType
Blast:CXC 67 107 1e-13 BLAST
CXC 152 193 1.37e-17 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,905 (GRCm39) L625P probably damaging Het
Agtpbp1 A G 13: 59,648,027 (GRCm39) S598P probably damaging Het
Ahnak A C 19: 8,982,019 (GRCm39) D1101A probably damaging Het
Aoah T C 13: 21,207,407 (GRCm39) V542A possibly damaging Het
Aox1 T C 1: 58,100,456 (GRCm39) S418P probably benign Het
Appl1 A G 14: 26,669,112 (GRCm39) I354T probably benign Het
BC035947 T C 1: 78,475,884 (GRCm39) E216G possibly damaging Het
Bnip3l A G 14: 67,237,064 (GRCm39) S63P probably damaging Het
Cckar T C 5: 53,860,265 (GRCm39) N188S probably benign Het
Ccl24 C T 5: 135,601,775 (GRCm39) A18T probably benign Het
Cmya5 A G 13: 93,232,569 (GRCm39) C840R probably benign Het
Copa C T 1: 171,948,896 (GRCm39) R1183W probably damaging Het
Dnah10 T C 5: 124,876,024 (GRCm39) V2621A probably damaging Het
Fryl A G 5: 73,248,061 (GRCm39) Y1019H probably damaging Het
Hira T C 16: 18,773,508 (GRCm39) Y943H probably damaging Het
Ighv3-8 T C 12: 114,285,994 (GRCm39) Y116C probably damaging Het
Igkv4-70 G A 6: 69,245,089 (GRCm39) T44I probably damaging Het
Lce3c G A 3: 92,852,778 (GRCm39) G80S unknown Het
Ldhb A T 6: 142,439,921 (GRCm39) N206K probably damaging Het
Mical1 T A 10: 41,354,411 (GRCm39) probably null Het
Myh2 T C 11: 67,070,174 (GRCm39) L402P probably damaging Het
Naa15 T A 3: 51,351,261 (GRCm39) L144I probably damaging Het
Nbea T A 3: 55,534,384 (GRCm39) I2918F possibly damaging Het
Or5w11 C A 2: 87,459,000 (GRCm39) H64Q probably benign Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pdlim7 A G 13: 55,654,869 (GRCm39) S214P probably damaging Het
Polg T C 7: 79,099,773 (GRCm39) D49G probably damaging Het
Polr2f C A 15: 79,035,858 (GRCm39) D106E possibly damaging Het
Ppp6r3 A C 19: 3,514,610 (GRCm39) N766K probably damaging Het
Prl8a1 T A 13: 27,758,049 (GRCm39) D220V probably damaging Het
Qrfprl A T 6: 65,433,203 (GRCm39) N341I probably damaging Het
Septin9 A G 11: 117,247,511 (GRCm39) K497E possibly damaging Het
Sfswap T G 5: 129,648,073 (GRCm39) M927R possibly damaging Het
Smad9 T G 3: 54,704,827 (GRCm39) W400G possibly damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Trf C T 9: 103,100,133 (GRCm39) probably null Het
Trpc3 A T 3: 36,725,706 (GRCm39) M90K possibly damaging Het
Tshz3 C T 7: 36,470,450 (GRCm39) T813I probably benign Het
Tub T A 7: 108,610,309 (GRCm39) M1K probably null Het
Wdfy3 A T 5: 101,997,133 (GRCm39) probably null Het
Zfp853 T C 5: 143,274,570 (GRCm39) Q350R unknown Het
Other mutations in Tesmin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Tesmin APN 19 3,452,483 (GRCm39) unclassified probably benign
R0207:Tesmin UTSW 19 3,454,088 (GRCm39) missense probably benign 0.00
R2441:Tesmin UTSW 19 3,452,577 (GRCm39) critical splice donor site probably null
R5272:Tesmin UTSW 19 3,456,992 (GRCm39) missense probably damaging 1.00
R6077:Tesmin UTSW 19 3,439,260 (GRCm39) missense possibly damaging 0.49
R7246:Tesmin UTSW 19 3,456,965 (GRCm39) missense probably damaging 1.00
R7357:Tesmin UTSW 19 3,447,042 (GRCm39) missense probably benign 0.04
R7567:Tesmin UTSW 19 3,442,218 (GRCm39) missense possibly damaging 0.94
R8419:Tesmin UTSW 19 3,439,077 (GRCm39) missense probably benign 0.03
R8782:Tesmin UTSW 19 3,445,965 (GRCm39) missense probably benign 0.01
R8922:Tesmin UTSW 19 3,454,163 (GRCm39) missense probably damaging 1.00
R9047:Tesmin UTSW 19 3,439,431 (GRCm39) intron probably benign
R9241:Tesmin UTSW 19 3,439,010 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGACATACATAGCTCCTTTCCC -3'
(R):5'- CAATTTTCAGCCCCTTGGAC -3'

Sequencing Primer
(F):5'- CTACCAAGCTTTCCTGAGAGAGG -3'
(R):5'- ACTTGAACTCGATGTGGAGAATCTG -3'
Posted On 2016-06-21