Incidental Mutation 'R5939:Tmem70'
ID 462408
Institutional Source Beutler Lab
Gene Symbol Tmem70
Ensembl Gene ENSMUSG00000025940
Gene Name transmembrane protein 70
Synonyms 1110020A09Rik, 2210416J16Rik
MMRRC Submission 043243-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5939 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 16735431-16748499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16747615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 243 (V243A)
Ref Sequence ENSEMBL: ENSMUSP00000070497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065373] [ENSMUST00000177501]
AlphaFold Q921N7
Predicted Effect probably benign
Transcript: ENSMUST00000065373
AA Change: V243A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000070497
Gene: ENSMUSG00000025940
AA Change: V243A

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:DUF1301 102 234 1.3e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177501
AA Change: V244A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135483
Gene: ENSMUSG00000025940
AA Change: V244A

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:TMEM70 104 235 2.4e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177532
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,404,138 (GRCm39) F225I probably damaging Het
Ager G T 17: 34,817,175 (GRCm39) C38F probably damaging Het
Arel1 C A 12: 84,973,066 (GRCm39) R577L probably damaging Het
Armh1 T C 4: 117,087,119 (GRCm39) Y182C probably damaging Het
Cabp2 G T 19: 4,136,470 (GRCm39) C172F possibly damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
D630045J12Rik A C 6: 38,171,904 (GRCm39) S755A possibly damaging Het
Duox1 A T 2: 122,176,832 (GRCm39) H1451L probably damaging Het
Dync2h1 A G 9: 7,037,801 (GRCm39) V3359A probably damaging Het
Erlin2 T C 8: 27,526,554 (GRCm39) F305L probably benign Het
Gm10428 A C 11: 62,644,288 (GRCm39) probably benign Het
Gnal G A 18: 67,324,456 (GRCm39) V204M probably damaging Het
Intu T C 3: 40,647,014 (GRCm39) V629A probably damaging Het
Lrguk G T 6: 34,055,688 (GRCm39) C435F probably damaging Het
Man1c1 C T 4: 134,293,147 (GRCm39) V543M probably damaging Het
Mcm3ap A G 10: 76,344,195 (GRCm39) H1779R probably benign Het
Neb T C 2: 52,147,606 (GRCm39) T2776A probably benign Het
Nek10 A T 14: 14,931,290 (GRCm38) Y754F possibly damaging Het
Nr3c1 A G 18: 39,553,706 (GRCm39) I664T probably benign Het
Nrip1 T C 16: 76,089,010 (GRCm39) E849G probably damaging Het
Nrros A G 16: 31,962,272 (GRCm39) F546L probably benign Het
Or12e8 A C 2: 87,188,048 (GRCm39) I87L possibly damaging Het
Or5d39 T C 2: 87,979,853 (GRCm39) Y170C probably damaging Het
Pcdhb16 A G 18: 37,611,117 (GRCm39) T26A probably benign Het
Penk A G 4: 4,138,010 (GRCm39) F45S probably benign Het
Pgap4 T A 4: 49,586,412 (GRCm39) Q252L probably damaging Het
Ppp2r3d A T 9: 101,089,824 (GRCm39) N166K probably benign Het
Psmb1 A G 17: 15,718,440 (GRCm39) F29L probably damaging Het
Rab23 T C 1: 33,762,990 (GRCm39) V20A probably damaging Het
Ryr1 C T 7: 28,815,552 (GRCm39) A113T probably damaging Het
Ryr2 C T 13: 11,805,218 (GRCm39) R882K probably damaging Het
Slc6a6 A G 6: 91,731,929 (GRCm39) N586S probably benign Het
Slc9c1 A G 16: 45,368,031 (GRCm39) I207V probably benign Het
Spef2 G A 15: 9,614,301 (GRCm39) T1215I probably benign Het
Thoc2l T C 5: 104,667,073 (GRCm39) Y532H possibly damaging Het
Tmc7 C T 7: 118,144,950 (GRCm39) A537T probably benign Het
Top2b T C 14: 16,422,786 (GRCm38) Y1408H probably damaging Het
Tpcn1 A T 5: 120,677,892 (GRCm39) F642I probably damaging Het
Xirp1 T G 9: 119,847,575 (GRCm39) D436A 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
R6707:Tmem70 UTSW 1 16,747,531 (GRCm39) missense probably damaging 1.00
R6942:Tmem70 UTSW 1 16,747,380 (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'- GCACAGTGTTTCACCAAGAC -3'
(R):5'- ACATGGCTCAGATGTGGTGG -3'

Sequencing Primer
(F):5'- TGTTTCACCAAGACGACGTG -3'
(R):5'- CTGCTTCTATGAAGGCCAATTCTAGG -3'
Posted On 2017-02-28