Incidental Mutation 'R7049:Mtdh'
ID 547499
Institutional Source Beutler Lab
Gene Symbol Mtdh
Ensembl Gene ENSMUSG00000022255
Gene Name metadherin
Synonyms D8Bwg1112e, 2610103J23Rik, AEG-1, 3D3/Lyric, Lyric
MMRRC Submission 045147-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7049 (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 A at 34131311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 174 (N174K)
Ref Sequence ENSEMBL: ENSMUSP00000131814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022865] [ENSMUST00000168991] [ENSMUST00000169905]
AlphaFold Q80WJ7
Predicted Effect probably benign
Transcript: ENSMUST00000022865
AA Change: N380K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: N380K

DomainStartEndE-ValueType
Pfam:LYRIC 6 420 1e-143 PFAM
low complexity region 438 448 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255
AA Change: D256E

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 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: N174K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131814
Gene: ENSMUSG00000022255
AA Change: N174K

DomainStartEndE-ValueType
low complexity region 121 132 N/A INTRINSIC
low complexity region 232 242 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255
AA Change: N263K

DomainStartEndE-ValueType
Pfam:LYRIC 3 304 4.2e-90 PFAM
low complexity region 322 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226992
Meta Mutation Damage Score 0.1528 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (46/46)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,941,497 (GRCm39) V447A probably benign Het
Adam6b A G 12: 113,454,122 (GRCm39) D313G probably damaging Het
Adcy10 G T 1: 165,367,443 (GRCm39) C571F probably damaging Het
Anxa1 A G 19: 20,352,635 (GRCm39) V313A probably benign Het
Bpifb6 A T 2: 153,750,733 (GRCm39) probably null Het
Cacna1c C A 6: 118,578,124 (GRCm39) C1713F probably benign Het
Cep135 A G 5: 76,754,585 (GRCm39) N354S probably benign Het
Cers2 A G 3: 95,228,965 (GRCm39) D200G probably damaging Het
Cpne1 A G 2: 155,920,727 (GRCm39) L133P probably damaging Het
Ddhd1 A G 14: 45,840,138 (GRCm39) Y16H probably damaging Het
Depp1 T C 6: 116,629,254 (GRCm39) L199P probably damaging Het
Fastkd2 T C 1: 63,771,009 (GRCm39) F122L probably benign Het
Fastkd5 A T 2: 130,457,431 (GRCm39) D386E probably damaging Het
Gm5134 T A 10: 75,828,292 (GRCm39) C291S probably damaging Het
Gria2 T C 3: 80,596,634 (GRCm39) S811G probably damaging Het
Hcn1 C T 13: 118,111,998 (GRCm39) P654L unknown Het
Hrnr C A 3: 93,230,461 (GRCm39) S233* probably null Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Itgal A T 7: 126,895,573 (GRCm39) probably benign Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Mical1 A G 10: 41,358,246 (GRCm39) R420G possibly damaging Het
Mllt6 T A 11: 97,564,637 (GRCm39) L481Q probably damaging Het
Nhsl1 A G 10: 18,407,386 (GRCm39) M1507V probably damaging Het
Npm3 A T 19: 45,737,994 (GRCm39) M1K probably null Het
Or1e21 C T 11: 73,344,430 (GRCm39) G203R probably damaging Het
Pold1 A T 7: 44,190,795 (GRCm39) W290R possibly damaging Het
Prss52 C T 14: 64,350,021 (GRCm39) T216I probably damaging Het
Psme4 T C 11: 30,763,904 (GRCm39) probably null Het
Pwwp2a T A 11: 43,597,018 (GRCm39) F453I probably damaging Het
Rttn A G 18: 89,082,340 (GRCm39) N1422S probably damaging Het
Scaf4 A C 16: 90,057,075 (GRCm39) I92R unknown Het
Slc12a1 A G 2: 125,013,177 (GRCm39) K345E probably benign Het
Slc22a28 A T 19: 8,049,270 (GRCm39) N326K probably benign Het
Smgc A G 15: 91,744,576 (GRCm39) E311G possibly damaging Het
Snx7 C T 3: 117,633,680 (GRCm39) R90H possibly damaging Het
Tex101 A G 7: 24,367,683 (GRCm39) I223T probably benign Het
Tnik A T 3: 28,715,853 (GRCm39) K1093* probably null Het
Tnxb T G 17: 34,936,242 (GRCm39) probably null Het
Trio T C 15: 27,749,885 (GRCm39) N2272S possibly damaging Het
Tubal3 T C 13: 3,982,756 (GRCm39) Y179H probably damaging Het
Vmn2r4 C T 3: 64,296,550 (GRCm39) G745D probably benign Het
Vps9d1 A T 8: 123,973,882 (GRCm39) Y300* probably null Het
Zfp646 T A 7: 127,479,199 (GRCm39) C459S possibly damaging 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
R6491:Mtdh UTSW 15 34,116,473 (GRCm39) missense probably damaging 1.00
R6852:Mtdh UTSW 15 34,136,867 (GRCm39) missense probably damaging 0.96
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'- GTGCTTAGCAACATTTGGACAATG -3'
(R):5'- CAGACAATCTTTAGGTCTAACCAC -3'

Sequencing Primer
(F):5'- GGACAATGTTTTCACTTTTTCCTAG -3'
(R):5'- TGAGACTCAATAGTGCCTGC -3'
Posted On 2019-05-13