Incidental Mutation 'IGL02153:Mtdh'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtdh
Ensembl Gene ENSMUSG00000022255
Gene Namemetadherin
Synonyms3D3/Lyric, 2610103J23Rik, D8Bwg1112e, AEG-1, Lyric
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02153
Quality Score
Chromosomal Location34082694-34145624 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 34131250 bp
Amino Acid Change Leucine to Phenylalanine at position 409 (L409F)
Ref Sequence ENSEMBL: ENSMUSP00000022865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022865] [ENSMUST00000168991] [ENSMUST00000169905]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022865
AA Change: L409F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: L409F

Pfam:LYRIC 6 420 1e-143 PFAM
low complexity region 438 448 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000163333
AA Change: L285F
SMART Domains Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255
AA Change: L285F

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 probably benign
Transcript: ENSMUST00000168991
SMART Domains Protein: ENSMUSP00000129500
Gene: ENSMUSG00000022255

transmembrane domain 51 73 N/A INTRINSIC
low complexity region 111 127 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169905
AA Change: L203F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000131814
Gene: ENSMUSG00000022255
AA Change: L203F

low complexity region 121 132 N/A INTRINSIC
low complexity region 232 242 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000170050
AA Change: L292F
SMART Domains Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255
AA Change: L292F

Pfam:LYRIC 3 304 4.2e-90 PFAM
low complexity region 322 332 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171711
Predicted Effect unknown
Transcript: ENSMUST00000226992
AA Change: L29F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228274
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,441,241 I275T probably benign Het
BC005561 A G 5: 104,521,083 E1157G probably benign Het
Chd9 A T 8: 90,956,494 K521* probably null Het
Csn3 A T 5: 87,930,097 N154I possibly damaging Het
Dock2 A G 11: 34,230,670 S1716P probably benign Het
Dock7 A T 4: 98,958,067 S18T probably benign Het
Esrra G A 19: 6,913,822 T190I probably benign Het
F13b T C 1: 139,516,377 I483T probably damaging Het
Foxb1 T A 9: 69,759,703 M182L probably benign Het
Fsip2 T C 2: 82,978,721 F1795L probably benign Het
Gkn2 G A 6: 87,373,408 probably null Het
Gm8439 G A 4: 120,609,590 A93T unknown Het
Ift22 T C 5: 136,911,696 S72P probably benign Het
Kcnmb2 A G 3: 32,178,844 K24E probably damaging Het
Kcnq3 C A 15: 66,025,191 V287L probably damaging Het
Lrriq1 T A 10: 103,170,479 M1262L probably benign Het
Mb21d2 A G 16: 28,929,488 I59T probably benign Het
Mogat2 A T 7: 99,223,554 M141K possibly damaging Het
Muc5ac C T 7: 141,818,800 Q2724* probably null Het
Myo15 T G 11: 60,498,397 L2040R probably damaging Het
Nodal C T 10: 61,424,545 T325I probably damaging Het
Pappa A T 4: 65,297,437 T1194S probably damaging Het
Pcdhb13 A C 18: 37,443,685 D372A probably damaging Het
Phf14 T A 6: 11,934,016 N292K probably damaging Het
Pigr T A 1: 130,849,056 probably null Het
Plcb1 T C 2: 135,387,853 I1131T probably benign Het
Plch1 T A 3: 63,781,351 D132V probably damaging Het
Plxnb2 C A 15: 89,165,813 E502* probably null Het
Prox2 T C 12: 85,087,929 N526S probably damaging Het
Rdm1 T A 11: 101,628,454 probably null Het
Rxfp1 C T 3: 79,660,120 E308K probably benign Het
Sgca T C 11: 94,963,284 T120A probably damaging Het
Sh3tc1 G A 5: 35,703,352 R1054W probably damaging Het
Smarcal1 C T 1: 72,633,055 probably benign Het
Spata45 T A 1: 191,039,761 M60K probably benign Het
St8sia6 T C 2: 13,656,905 M372V probably damaging Het
Tas2r126 T G 6: 42,434,664 S44A probably benign Het
Tcea3 T A 4: 136,273,634 probably benign Het
Tln1 T C 4: 43,546,857 I840V possibly damaging Het
Ttn T C 2: 76,898,341 probably benign Het
Ubr4 T A 4: 139,460,160 Y3846* probably null Het
Usp47 G A 7: 112,104,049 D1171N probably benign Het
Vmn2r114 G A 17: 23,291,808 T566I probably benign Het
Wdr35 G A 12: 9,008,535 R575Q probably null Het
Xkr5 A T 8: 18,933,667 C454S probably benign Het
Other mutations in Mtdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Mtdh APN 15 34083109 missense probably damaging 1.00
IGL01772:Mtdh APN 15 34139881 missense probably damaging 1.00
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 On2015-04-16