Incidental Mutation 'R6942:Tmem70'
ID 540580
Institutional Source Beutler Lab
Gene Symbol Tmem70
Ensembl Gene ENSMUSG00000025940
Gene Name transmembrane protein 70
Synonyms 1110020A09Rik, 2210416J16Rik
MMRRC Submission 045056-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6942 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 16735431-16748499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16747380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 166 (Y166N)
Ref Sequence ENSEMBL: ENSMUSP00000135483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065373] [ENSMUST00000177501]
AlphaFold Q921N7
Predicted Effect probably damaging
Transcript: ENSMUST00000065373
AA Change: Y165N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070497
Gene: ENSMUSG00000025940
AA Change: Y165N

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:DUF1301 102 234 1.3e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177501
AA Change: Y166N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135483
Gene: ENSMUSG00000025940
AA Change: Y166N

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:TMEM70 104 235 2.4e-58 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.2%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality during organogenesis associated with severe growth delay, impaired biosynthesis and assembly of ATP synthase, decreased ATP production, oxidative stress, delayed heart development, and altered mitochondrial ultrastructure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,330,024 (GRCm39) probably null Het
Adap2 A G 11: 80,045,891 (GRCm39) D57G probably benign Het
Atmin G T 8: 117,683,452 (GRCm39) V371F probably benign Het
Cacna1h G T 17: 25,604,013 (GRCm39) A1273E probably benign Het
Cdh23 G A 10: 60,274,635 (GRCm39) T483I possibly damaging Het
Cnot9 T A 1: 74,558,154 (GRCm39) V100E probably damaging Het
Cog2 T A 8: 125,271,875 (GRCm39) V463D probably benign Het
Crybg3 C T 16: 59,360,183 (GRCm39) R2500H possibly damaging Het
Cyp11b2 G A 15: 74,728,094 (GRCm39) probably benign Het
Cyp2j12 A T 4: 96,001,101 (GRCm39) probably null Het
Dipk1c A C 18: 84,748,549 (GRCm39) Y49S possibly damaging Het
Dlc1 T C 8: 37,405,364 (GRCm39) K142E probably benign Het
Dpp6 G A 5: 27,674,457 (GRCm39) V140M possibly damaging Het
Fktn G A 4: 53,735,128 (GRCm39) probably null Het
Gas7 A T 11: 67,550,977 (GRCm39) probably null Het
Grin3b T A 10: 79,811,953 (GRCm39) probably null Het
Hhatl G A 9: 121,617,246 (GRCm39) A329V probably benign Het
Homer3 C T 8: 70,744,201 (GRCm39) T276I probably benign Het
Igdcc4 G A 9: 65,027,550 (GRCm39) S204N probably benign Het
Ino80 A G 2: 119,213,983 (GRCm39) F1196L probably damaging Het
Iqsec3 C T 6: 121,450,062 (GRCm39) C154Y probably damaging Het
Kank1 A T 19: 25,401,537 (GRCm39) D1048V possibly damaging Het
Kif2c A G 4: 117,023,575 (GRCm39) L379P probably damaging Het
Kpna6 A T 4: 129,545,514 (GRCm39) probably null Het
Large2 C T 2: 92,201,167 (GRCm39) R28H probably damaging Het
Map4k2 T A 19: 6,396,739 (GRCm39) W552R possibly damaging Het
Mark3 A G 12: 111,559,088 (GRCm39) I43M probably null Het
Med13l C A 5: 118,883,071 (GRCm39) probably null Het
Mtbp T A 15: 55,430,596 (GRCm39) Y218N probably damaging Het
Or52n5 C T 7: 104,588,104 (GRCm39) R124C possibly damaging Het
Pcdhgb5 T C 18: 37,865,696 (GRCm39) L497P probably damaging Het
Pkhd1l1 A G 15: 44,386,025 (GRCm39) T1221A probably damaging Het
Pth1r C T 9: 110,557,084 (GRCm39) probably null Het
Samd8 T C 14: 21,825,221 (GRCm39) I59T possibly damaging Het
Scgb2b18 A G 7: 32,871,564 (GRCm39) V85A possibly damaging Het
Sema6c G T 3: 95,080,519 (GRCm39) V906L probably benign Het
Semp2l2b A T 10: 21,943,160 (GRCm39) D273E probably benign Het
Serpinb9g A T 13: 33,678,888 (GRCm39) T253S probably benign Het
Sipa1l3 T C 7: 29,085,516 (GRCm39) T694A probably damaging Het
Slc8a1 A G 17: 81,715,549 (GRCm39) L828P probably damaging Het
Spry1 T A 3: 37,697,193 (GRCm39) D145E probably benign Het
Stat6 A T 10: 127,487,131 (GRCm39) N213Y probably damaging Het
Tep1 A G 14: 51,074,194 (GRCm39) V1897A possibly damaging Het
Tmem45a T C 16: 56,646,145 (GRCm39) N25S probably benign Het
Trrap T A 5: 144,720,853 (GRCm39) I230N possibly damaging Het
Ttn A G 2: 76,732,190 (GRCm39) probably benign Het
Unc79 T A 12: 103,088,704 (GRCm39) probably null Het
Vmn1r43 T A 6: 89,847,319 (GRCm39) I56F probably benign Het
Zfyve16 A T 13: 92,653,139 (GRCm39) N815K probably benign Het
Other mutations in Tmem70
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1856:Tmem70 UTSW 1 16,747,497 (GRCm39) missense probably damaging 1.00
R2496:Tmem70 UTSW 1 16,735,575 (GRCm39) missense probably benign 0.02
R3040:Tmem70 UTSW 1 16,737,989 (GRCm39) missense possibly damaging 0.47
R5853:Tmem70 UTSW 1 16,735,556 (GRCm39) missense possibly damaging 0.96
R5939:Tmem70 UTSW 1 16,747,615 (GRCm39) missense probably benign 0.00
R6707:Tmem70 UTSW 1 16,747,531 (GRCm39) missense probably damaging 1.00
R7260:Tmem70 UTSW 1 16,735,590 (GRCm39) missense possibly damaging 0.58
R7899:Tmem70 UTSW 1 16,747,268 (GRCm39) missense probably benign 0.00
R9304:Tmem70 UTSW 1 16,737,989 (GRCm39) missense possibly damaging 0.47
R9667:Tmem70 UTSW 1 16,735,659 (GRCm39) missense probably benign 0.00
R9668:Tmem70 UTSW 1 16,735,659 (GRCm39) missense probably benign 0.00
R9695:Tmem70 UTSW 1 16,735,659 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTATTCTACAAGTGTTGTCAGCCTTG -3'
(R):5'- CCATATCAAAAGTGAACGGTTTGTC -3'

Sequencing Primer
(F):5'- ACAAGTGTTGTCAGCCTTGCATTC -3'
(R):5'- GTGAACGGTTTGTCATAACCC -3'
Posted On 2018-11-06