Incidental Mutation 'R5977:Mtdh'
ID 481219
Institutional Source Beutler Lab
Gene Symbol Mtdh
Ensembl Gene ENSMUSG00000022255
Gene Name metadherin
Synonyms D8Bwg1112e, 2610103J23Rik, AEG-1, 3D3/Lyric, Lyric
MMRRC Submission 044159-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5977 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 34082613-34143683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34099720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 61 (K61E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022865] [ENSMUST00000168991]
AlphaFold Q80WJ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000022865
AA Change: K157E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: K157E

DomainStartEndE-ValueType
Pfam:LYRIC 6 420 1e-143 PFAM
low complexity region 438 448 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163333
AA Change: K66E

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255
AA Change: K66E

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 possibly damaging
Transcript: ENSMUST00000168991
AA Change: K157E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129500
Gene: ENSMUSG00000022255
AA Change: K157E

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
low complexity region 111 127 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000170050
AA Change: K62E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255
AA Change: K62E

DomainStartEndE-ValueType
Pfam:LYRIC 3 304 4.2e-90 PFAM
low complexity region 322 332 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170553
AA Change: K61E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126167
Gene: ENSMUSG00000022255
AA Change: K61E

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 97% (72/74)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,451,106 (GRCm39) R446S probably damaging Het
2900092C05Rik A T 7: 12,288,664 (GRCm39) H159L probably benign Het
4933405O20Rik G A 7: 50,249,838 (GRCm39) V291I probably damaging Het
A2ml1 A G 6: 128,558,085 (GRCm39) Y24H probably damaging Het
Adgrv1 C T 13: 81,583,678 (GRCm39) probably null Het
Ankrd52 C T 10: 128,218,566 (GRCm39) H351Y probably damaging Het
Anks6 C A 4: 47,035,748 (GRCm39) A588S probably benign Het
Arl15 T G 13: 114,070,645 (GRCm39) V80G probably damaging Het
Atp8a1 A G 5: 67,904,628 (GRCm39) I532T possibly damaging Het
Birc6 T C 17: 74,910,031 (GRCm39) C1475R probably damaging Het
Carmil1 C T 13: 24,253,719 (GRCm39) R394Q probably damaging Het
Cbfa2t2 T C 2: 154,359,697 (GRCm39) I254T probably damaging Het
Cemip2 A G 19: 21,803,447 (GRCm39) T827A probably benign Het
Col6a3 A G 1: 90,749,571 (GRCm39) V421A possibly damaging Het
Cped1 T C 6: 22,254,607 (GRCm39) V1000A probably damaging Het
Cr1l A T 1: 194,797,076 (GRCm39) Y282* probably null Het
Cryl1 G T 14: 57,620,236 (GRCm39) T43K probably benign Het
Csmd2 C T 4: 127,952,827 (GRCm39) P92L probably damaging Het
Ddx60 G A 8: 62,474,444 (GRCm39) probably null Het
Dhrs7b C T 11: 60,743,328 (GRCm39) R187* probably null Het
Dmtf1 T C 5: 9,190,451 (GRCm39) T88A probably damaging Het
Dnah2 T C 11: 69,411,707 (GRCm39) E305G possibly damaging Het
Dscaml1 A C 9: 45,632,596 (GRCm39) N1154T probably benign Het
Efhc1 A G 1: 21,030,442 (GRCm39) Y125C probably damaging Het
Egflam T A 15: 7,347,726 (GRCm39) Y68F possibly damaging Het
Gcm2 A G 13: 41,256,603 (GRCm39) V382A probably damaging Het
Gm18358 A G 7: 84,739,756 (GRCm39) noncoding transcript Het
Gm3443 T G 19: 21,534,960 (GRCm39) I75S probably benign Het
Gpr182 C A 10: 127,586,748 (GRCm39) V68F possibly damaging Het
Herc1 T A 9: 66,340,604 (GRCm39) M1651K possibly damaging Het
Hey1 A T 3: 8,731,418 (GRCm39) probably null Het
Ighv1-43 A C 12: 114,909,829 (GRCm39) V31G probably benign Het
Il17rc T C 6: 113,459,692 (GRCm39) V450A probably damaging Het
Kbtbd4 T G 2: 90,736,487 (GRCm39) V166G probably benign Het
Marveld2 T C 13: 100,748,197 (GRCm39) N294S possibly damaging Het
Muc5ac T C 7: 141,350,104 (GRCm39) S616P possibly damaging Het
Myh15 T C 16: 48,973,866 (GRCm39) L1292P probably damaging Het
Nek8 C T 11: 78,058,651 (GRCm39) V550M probably benign Het
Nup155 T A 15: 8,159,721 (GRCm39) probably null Het
Or2y17 G A 11: 49,231,592 (GRCm39) V78M probably damaging Het
Or7c70 A T 10: 78,683,572 (GRCm39) M59K possibly damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Papln G A 12: 83,831,143 (GRCm39) W1099* probably null Het
Pcdhb17 A G 18: 37,618,720 (GRCm39) Y170C probably damaging Het
Pramel12 T C 4: 143,144,229 (GRCm39) Y192H probably benign Het
Prss39 T G 1: 34,541,783 (GRCm39) C287G probably damaging Het
Pyroxd2 A G 19: 42,723,911 (GRCm39) V338A probably damaging Het
Rab19 T A 6: 39,360,860 (GRCm39) F3I probably benign Het
Relt A G 7: 100,512,355 (GRCm39) probably benign Het
Sbf2 T A 7: 109,977,193 (GRCm39) H647L probably benign Het
Scube1 C T 15: 83,513,689 (GRCm39) C327Y probably damaging Het
Sec14l4 A C 11: 3,990,055 (GRCm39) Q118P possibly damaging Het
Shisa9 C G 16: 12,085,292 (GRCm39) D300E probably benign Het
Smg1 A G 7: 117,740,580 (GRCm39) probably benign Het
Sncaip A G 18: 53,002,393 (GRCm39) T305A probably benign Het
Sorcs3 T C 19: 48,784,889 (GRCm39) V1104A probably damaging Het
Ugt1a6b C T 1: 88,143,982 (GRCm39) R201C probably damaging Het
Unc119b A G 5: 115,268,612 (GRCm39) V91A probably benign Het
Uvssa A G 5: 33,547,204 (GRCm39) K257E probably damaging Het
Vmn1r199 A C 13: 22,567,416 (GRCm39) M237L probably benign Het
Vmn1r69 G A 7: 10,314,417 (GRCm39) R26W probably damaging Het
Vmn2r54 A G 7: 12,366,143 (GRCm39) F264L probably damaging Het
Vmn2r7 C T 3: 64,623,464 (GRCm39) W285* probably null Het
Vmn2r78 T A 7: 86,569,541 (GRCm39) S145T possibly damaging Het
Vmn2r78 T A 7: 86,604,115 (GRCm39) N764K probably benign Het
Wdr5b T G 16: 35,862,374 (GRCm39) H164Q probably damaging Het
Zcchc7 G A 4: 44,894,982 (GRCm39) V236I possibly damaging Het
Zfp729b G A 13: 67,739,740 (GRCm39) R842C probably benign 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
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
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'- TCATTTGGGTCAGGGAAGAATTTC -3'
(R):5'- AGTTGCAAATGACTTTAGGCAC -3'

Sequencing Primer
(F):5'- GGTCAGGGAAGAATTTCATTGTTG -3'
(R):5'- TCTTAAATGGAAGACTACACTC -3'
Posted On 2017-06-26