Incidental Mutation 'IGL01727:Mtdh'
ID 105337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtdh
Ensembl Gene ENSMUSG00000022255
Gene Name metadherin
Synonyms 3D3/Lyric, 2610103J23Rik, D8Bwg1112e, AEG-1, Lyric
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01727
Quality Score
Status
Chromosome 15
Chromosomal Location 34082694-34145624 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34083109 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 25 (L25R)
Ref Sequence ENSEMBL: ENSMUSP00000129500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022865] [ENSMUST00000168991]
AlphaFold Q80WJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000022865
AA Change: L25R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: L25R

DomainStartEndE-ValueType
Pfam:LYRIC 6 420 1e-143 PFAM
low complexity region 438 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163333
SMART Domains Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255

DomainStartEndE-ValueType
Pfam:LYRIC 4 256 2.3e-70 PFAM
Pfam:LYRIC 250 297 4.4e-13 PFAM
low complexity region 315 325 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163697
Predicted Effect probably damaging
Transcript: ENSMUST00000168991
AA Change: L25R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129500
Gene: ENSMUSG00000022255
AA Change: L25R

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
low complexity region 111 127 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170050
SMART Domains Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255

DomainStartEndE-ValueType
Pfam:LYRIC 3 304 4.2e-90 PFAM
low complexity region 322 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170553
SMART Domains Protein: ENSMUSP00000126167
Gene: ENSMUSG00000022255

DomainStartEndE-ValueType
Pfam:LYRIC 3 106 7.7e-28 PFAM
Pfam:LYRIC 99 220 3.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172083
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele are viable and fertile with decreased incidence of tumors by chemical induction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,121,553 A292V probably benign Het
Ankrd26 A G 6: 118,511,636 L1354P probably damaging Het
Aox1 T A 1: 58,073,228 C720* probably null Het
Aqp5 T C 15: 99,591,621 L117P probably damaging Het
BC005561 A G 5: 104,519,513 T634A probably benign Het
Col9a3 T C 2: 180,616,565 probably null Het
Ctrc T C 4: 141,843,761 Y56C probably damaging Het
Dsc2 T A 18: 20,038,200 T581S probably benign Het
Grap2 T C 15: 80,634,409 I51T probably damaging Het
Herc2 A G 7: 56,137,806 Y1737C probably damaging Het
Hook3 A G 8: 26,070,159 M346T probably benign Het
Lancl1 C T 1: 67,020,942 C108Y probably damaging Het
Lpin2 T C 17: 71,246,452 C824R probably damaging Het
Mlip T C 9: 77,239,748 S88G probably damaging Het
Musk A G 4: 58,303,887 I177V probably benign Het
Nov G A 15: 54,746,238 A45T probably benign Het
Olfr1148 T C 2: 87,833,500 S154P probably damaging Het
Olfr1186 A G 2: 88,525,927 M115V probably benign Het
Olfr1504 A G 19: 13,887,878 C111R probably damaging Het
Pabpc4l C A 3: 46,446,665 E181D probably damaging Het
Pcdh18 A G 3: 49,755,700 S389P probably damaging Het
Ptk7 A G 17: 46,572,548 Y864H probably damaging Het
Rbp4 A G 19: 38,124,052 V155A probably benign Het
Rilpl1 C T 5: 124,530,944 A14T possibly damaging Het
Rnf148 T A 6: 23,655,002 probably benign Het
Rnf219 G A 14: 104,479,387 R517* probably null Het
Ska2 T A 11: 87,116,147 L26Q probably damaging Het
Slc29a2 T A 19: 5,026,458 F125I probably damaging Het
Smap2 A G 4: 120,982,208 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Supt7l A G 5: 31,520,342 V160A possibly damaging Het
Susd1 A G 4: 59,412,329 probably benign Het
Syne1 T C 10: 5,047,842 D375G probably damaging Het
Tpst2 G A 5: 112,309,858 D351N probably damaging Het
Trcg1 T C 9: 57,242,273 I376T probably benign Het
Trcg1 T A 9: 57,242,594 I483N probably damaging Het
Tsga10 T C 1: 37,835,274 E148G probably damaging Het
Zranb1 G T 7: 132,966,620 D336Y probably damaging Het
Other mutations in Mtdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Mtdh APN 15 34139881 missense probably damaging 1.00
IGL02153:Mtdh APN 15 34131250 missense possibly damaging 0.93
IGL02392:Mtdh APN 15 34099577 missense probably damaging 0.98
IGL03052:Mtdh UTSW 15 34140730 missense possibly damaging 0.53
R0062:Mtdh UTSW 15 34134280 splice site probably benign
R0333:Mtdh UTSW 15 34118101 missense possibly damaging 0.86
R0791:Mtdh UTSW 15 34116382 splice site probably benign
R1472:Mtdh UTSW 15 34114045 missense possibly damaging 0.86
R1713:Mtdh UTSW 15 34114839 missense possibly damaging 0.86
R3605:Mtdh UTSW 15 34114112 splice site probably benign
R4626:Mtdh UTSW 15 34114834 nonsense probably null
R4957:Mtdh UTSW 15 34083135 missense possibly damaging 0.82
R5196:Mtdh UTSW 15 34118004 missense probably damaging 0.99
R5977:Mtdh UTSW 15 34099574 missense probably damaging 0.99
R6491:Mtdh UTSW 15 34116327 missense probably damaging 1.00
R6852:Mtdh UTSW 15 34136721 missense probably damaging 0.96
R7049:Mtdh UTSW 15 34131165 missense probably damaging 0.97
R7899:Mtdh UTSW 15 34123719 missense possibly damaging 0.92
Posted On 2014-01-21