Incidental Mutation 'R6707:Tmem70'
ID 528964
Institutional Source Beutler Lab
Gene Symbol Tmem70
Ensembl Gene ENSMUSG00000025940
Gene Name transmembrane protein 70
Synonyms 1110020A09Rik, 2210416J16Rik
MMRRC Submission 044825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6707 (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 C at 16747531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 216 (V216A)
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: V215A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070497
Gene: ENSMUSG00000025940
AA Change: V215A

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: V216A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135483
Gene: ENSMUSG00000025940
AA Change: V216A

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: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,920,783 (GRCm39) Y109C probably damaging Het
Actg2 C T 6: 83,490,076 (GRCm39) W341* probably null Het
Adam29 C T 8: 56,325,135 (GRCm39) G440R probably damaging Het
Arfgef3 T C 10: 18,496,903 (GRCm39) D1153G probably benign Het
Arhgef28 T C 13: 98,211,624 (GRCm39) T120A possibly damaging Het
Arhgef28 G T 13: 98,073,224 (GRCm39) Q1371K probably damaging Het
BC051665 A T 13: 60,932,222 (GRCm39) D122E probably benign Het
Boc A T 16: 44,320,979 (GRCm39) I227N possibly damaging Het
Clca3b T A 3: 144,550,288 (GRCm39) Q219L probably benign Het
Cplane1 G A 15: 8,252,606 (GRCm39) V1943M probably benign Het
Cyp2c66 T A 19: 39,174,944 (GRCm39) F448Y probably damaging Het
Ddx5 A G 11: 106,673,058 (GRCm39) M489T probably benign Het
Dnm1 T C 2: 32,226,253 (GRCm39) D312G probably null Het
Ecpas T A 4: 58,879,101 (GRCm39) I63L possibly damaging Het
Eqtn T C 4: 94,796,056 (GRCm39) D215G probably benign Het
Evi5l A T 8: 4,256,322 (GRCm39) T706S probably benign Het
Gtf2f1 T C 17: 57,314,770 (GRCm39) E90G probably benign Het
Hpx A T 7: 105,244,682 (GRCm39) S168T probably benign Het
Ipo4 C A 14: 55,866,361 (GRCm39) V773L possibly damaging Het
Ireb2 C T 9: 54,811,245 (GRCm39) T716I probably damaging Het
Klhl21 A G 4: 152,096,784 (GRCm39) D350G possibly damaging Het
Myh13 A T 11: 67,241,086 (GRCm39) N821I probably damaging Het
Nipbl G T 15: 8,354,043 (GRCm39) T1698K probably benign Het
Nod2 A G 8: 89,391,817 (GRCm39) H686R probably benign Het
Ntf3 A G 6: 126,141,691 (GRCm39) probably null Het
Or6c215 G T 10: 129,637,689 (GRCm39) A235D probably damaging Het
Or6c69 T C 10: 129,747,608 (GRCm39) T180A probably benign Het
Parp9 A T 16: 35,768,303 (GRCm39) H161L probably damaging Het
Pkhd1l1 A G 15: 44,392,539 (GRCm39) N1625D probably benign Het
Rdx T C 9: 51,974,954 (GRCm39) F30S probably damaging Het
Smo T A 6: 29,736,173 (GRCm39) V55E probably benign Het
Sox9 C A 11: 112,673,698 (GRCm39) N96K probably damaging Het
Spp2 T G 1: 88,345,016 (GRCm39) probably null Het
Tex46 A G 4: 136,340,161 (GRCm39) N82S probably benign Het
Timm22 C T 11: 76,298,151 (GRCm39) L41F possibly damaging Het
Tmem30a A T 9: 79,681,547 (GRCm39) Y207* probably null Het
Tspan18 T C 2: 93,040,302 (GRCm39) N151S probably benign Het
Vmn2r90 T C 17: 17,948,364 (GRCm39) C537R probably damaging Het
Vps50 A G 6: 3,545,583 (GRCm39) Y339C probably damaging Het
Zp2 C T 7: 119,733,145 (GRCm39) G599R possibly damaging 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
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'- AAGGCTATGTCATTCGGTTGTA -3'
(R):5'- CCAGAATATTCATGACCATCCACATTT -3'

Sequencing Primer
(F):5'- TCGGTTGTATCATGAAGCCAC -3'
(R):5'- CTGCTTCTATGAAGGCCAATTCTAGG -3'
Posted On 2018-07-24