Incidental Mutation 'R6491:Mtdh'
ID 522897
Institutional Source Beutler Lab
Gene Symbol Mtdh
Ensembl Gene ENSMUSG00000022255
Gene Name metadherin
Synonyms D8Bwg1112e, 2610103J23Rik, AEG-1, 3D3/Lyric, Lyric
MMRRC Submission 044623-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6491 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 34082613-34143683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34116473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 17 (N17K)
Ref Sequence ENSEMBL: ENSMUSP00000131814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022865] [ENSMUST00000168991] [ENSMUST00000169905]
AlphaFold Q80WJ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000022865
AA Change: N253K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: N253K

DomainStartEndE-ValueType
Pfam:LYRIC 6 420 1e-143 PFAM
low complexity region 438 448 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000163333
AA Change: N162K
SMART Domains Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255
AA Change: N162K

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

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
low complexity region 111 127 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169905
AA Change: N17K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131814
Gene: ENSMUSG00000022255
AA Change: N17K

DomainStartEndE-ValueType
low complexity region 121 132 N/A INTRINSIC
low complexity region 232 242 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 unknown
Transcript: ENSMUST00000170553
AA Change: N98K
SMART Domains Protein: ENSMUSP00000126167
Gene: ENSMUSG00000022255
AA Change: N98K

DomainStartEndE-ValueType
Pfam:LYRIC 3 106 7.7e-28 PFAM
Pfam:LYRIC 99 220 3.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226331
Meta Mutation Damage Score 0.1914 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,612,508 (GRCm39) L431P probably damaging Het
Acad10 A C 5: 121,768,220 (GRCm39) W779G probably damaging Het
Acrbp A G 6: 125,028,442 (GRCm39) probably benign Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
Ap2a1 A T 7: 44,565,588 (GRCm39) I93K probably damaging Het
Arnt T A 3: 95,383,454 (GRCm39) M240K probably damaging Het
Ceacam12 A T 7: 17,803,185 (GRCm39) K197M probably damaging Het
Cep41 T C 6: 30,656,483 (GRCm39) N323S probably benign Het
Dst A G 1: 34,232,093 (GRCm39) T2904A probably benign Het
Eml1 G A 12: 108,479,330 (GRCm39) probably null Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Irf2bpl A G 12: 86,930,238 (GRCm39) V145A probably benign Het
Itga2b T C 11: 102,350,695 (GRCm39) probably null Het
Itga8 T C 2: 12,209,587 (GRCm39) D466G probably damaging Het
Kdm4c G T 4: 74,291,873 (GRCm39) C830F probably damaging Het
Mrps27 T C 13: 99,499,538 (GRCm39) S73P probably damaging Het
Muc3a A G 5: 137,246,591 (GRCm39) S9P probably benign Het
Or8b46 A G 9: 38,558,751 (GRCm39) L23P probably damaging Het
Oxgr1 T A 14: 120,259,419 (GRCm39) I263F probably benign Het
Phc1 A G 6: 122,311,923 (GRCm39) Het
Ppp2r5d A G 17: 46,996,509 (GRCm39) F388S probably damaging Het
Pxmp4 A G 2: 154,434,083 (GRCm39) probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror1 A G 4: 100,267,109 (GRCm39) N270S possibly damaging Het
Slc7a14 T C 3: 31,278,093 (GRCm39) Y504C probably damaging Het
Snx9 A G 17: 5,970,437 (GRCm39) D391G probably benign Het
St18 T A 1: 6,898,209 (GRCm39) Y670* probably null Het
Tjp1 A T 7: 64,986,865 (GRCm39) F207I possibly damaging Het
Trappc3 A G 4: 126,169,022 (GRCm39) I171V probably benign Het
Ugt2b5 A T 5: 87,273,328 (GRCm39) L446* probably null Het
Vmn2r105 A T 17: 20,447,992 (GRCm39) Y277* probably null Het
Vmn2r11 A T 5: 109,196,800 (GRCm39) N557K possibly damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp938 A G 10: 82,063,363 (GRCm39) *65Q probably null Het
Other mutations in Mtdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Mtdh APN 15 34,083,255 (GRCm39) missense probably damaging 1.00
IGL01772:Mtdh APN 15 34,140,027 (GRCm39) missense probably damaging 1.00
IGL02153:Mtdh APN 15 34,131,396 (GRCm39) missense possibly damaging 0.93
IGL02392:Mtdh APN 15 34,099,723 (GRCm39) missense probably damaging 0.98
IGL03052:Mtdh UTSW 15 34,140,876 (GRCm39) missense possibly damaging 0.53
R0062:Mtdh UTSW 15 34,134,426 (GRCm39) splice site probably benign
R0333:Mtdh UTSW 15 34,118,247 (GRCm39) missense possibly damaging 0.86
R0791:Mtdh UTSW 15 34,116,528 (GRCm39) splice site probably benign
R1472:Mtdh UTSW 15 34,114,191 (GRCm39) missense possibly damaging 0.86
R1713:Mtdh UTSW 15 34,114,985 (GRCm39) missense possibly damaging 0.86
R3605:Mtdh UTSW 15 34,114,258 (GRCm39) splice site probably benign
R4626:Mtdh UTSW 15 34,114,980 (GRCm39) nonsense probably null
R4957:Mtdh UTSW 15 34,083,281 (GRCm39) missense possibly damaging 0.82
R5196:Mtdh UTSW 15 34,118,150 (GRCm39) missense probably damaging 0.99
R5977:Mtdh UTSW 15 34,099,720 (GRCm39) missense probably damaging 0.99
R6852:Mtdh UTSW 15 34,136,867 (GRCm39) missense probably damaging 0.96
R7049:Mtdh UTSW 15 34,131,311 (GRCm39) missense probably damaging 0.97
R7899:Mtdh UTSW 15 34,123,865 (GRCm39) missense possibly damaging 0.92
R9787:Mtdh UTSW 15 34,123,844 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACTCAATTCCCTGTGAACATGTG -3'
(R):5'- CGAGTGTGAATGATCTTCCTTTTC -3'

Sequencing Primer
(F):5'- CCCTGTGAACATGTGAAATATGTTG -3'
(R):5'- TTTTCCATTTTTCAAATTCTCTGGAC -3'
Posted On 2018-06-06