Incidental Mutation 'R3040:Tmem70'
ID 264907
Institutional Source Beutler Lab
Gene Symbol Tmem70
Ensembl Gene ENSMUSG00000025940
Gene Name transmembrane protein 70
Synonyms 1110020A09Rik, 2210416J16Rik
MMRRC Submission 040556-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3040 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 16735431-16748499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16737989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 100 (T100M)
Ref Sequence ENSEMBL: ENSMUSP00000135483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065373] [ENSMUST00000177501]
AlphaFold Q921N7
Predicted Effect possibly damaging
Transcript: ENSMUST00000065373
AA Change: T99M

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070497
Gene: ENSMUSG00000025940
AA Change: T99M

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:DUF1301 102 234 1.3e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176451
Predicted Effect possibly damaging
Transcript: ENSMUST00000177501
AA Change: T100M

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135483
Gene: ENSMUSG00000025940
AA Change: T100M

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:TMEM70 104 235 2.4e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186738
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 A C 9: 14,484,069 (GRCm39) V498G probably benign Het
Ampd2 A G 3: 107,983,732 (GRCm39) Y602H probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Ccar1 G T 10: 62,592,273 (GRCm39) H760N possibly damaging Het
Cyp2c50 A G 19: 40,086,570 (GRCm39) N319S probably benign Het
Dcdc2c G C 12: 28,602,181 (GRCm39) A41G probably damaging Het
Dzip3 G A 16: 48,748,687 (GRCm39) S1083F probably damaging Het
Etfdh C T 3: 79,512,226 (GRCm39) R498Q probably damaging Het
Fbn2 A T 18: 58,226,459 (GRCm39) C772S probably damaging Het
Gask1b T A 3: 79,794,432 (GRCm39) I300N possibly damaging Het
Gdap2 T C 3: 100,095,351 (GRCm39) probably null Het
Iqcj T C 3: 67,962,675 (GRCm39) S79P probably damaging Het
Isg20l2 T C 3: 87,839,302 (GRCm39) V171A probably benign Het
Kcna7 GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC GGCTGC 7: 45,056,212 (GRCm39) probably null Het
Luc7l A T 17: 26,496,593 (GRCm39) probably benign Het
Mepe T G 5: 104,485,988 (GRCm39) L376R probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nedd4 T C 9: 72,577,243 (GRCm39) F23L probably benign Het
Neurl1a T C 19: 47,228,270 (GRCm39) S22P probably benign Het
Pramel51 A T 12: 88,145,118 (GRCm39) S69R probably benign Het
Psmd2 T C 16: 20,476,317 (GRCm39) V470A probably benign Het
Pyroxd2 G T 19: 42,723,957 (GRCm39) Q323K probably benign Het
Slf2 A G 19: 44,969,008 (GRCm39) D1157G probably damaging Het
Styxl1 C T 5: 135,785,887 (GRCm39) A197T probably damaging Het
Trip12 A G 1: 84,719,966 (GRCm39) V309A probably benign Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn1r122 G C 7: 20,867,371 (GRCm39) P228R 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
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
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'- GCATGGCATTGTAACAAGTTCTCTTTG -3'
(R):5'- CTCGGCCTTTAAACATCACTG -3'

Sequencing Primer
(F):5'- CAGATACCTGTTTGTTGGG -3'
(R):5'- GTGGTCTTCCCCAGGAAAGAAC -3'
Posted On 2015-02-05