Incidental Mutation 'R9304:Tmem70'
ID 705097
Institutional Source Beutler Lab
Gene Symbol Tmem70
Ensembl Gene ENSMUSG00000025940
Gene Name transmembrane protein 70
Synonyms 1110020A09Rik, 2210416J16Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9304 (G1)
Quality Score 225.009
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik A G 3: 36,536,072 (GRCm39) K113E unknown Het
4930486L24Rik T C 13: 61,001,352 (GRCm39) Y125C probably damaging Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam28 A T 14: 68,874,946 (GRCm39) Y244N probably damaging Het
Ap3b2 T C 7: 81,113,019 (GRCm39) D944G unknown Het
Asb2 G A 12: 103,302,225 (GRCm39) P108S probably damaging Het
Cachd1 A G 4: 100,824,179 (GRCm39) Y540C possibly damaging Het
Ccdc40 A G 11: 119,122,597 (GRCm39) Q63R probably benign Het
Cdhr5 G A 7: 140,851,474 (GRCm39) P610L probably benign Het
Cep350 T C 1: 155,829,464 (GRCm39) K87E probably damaging Het
Csmd3 T C 15: 47,569,805 (GRCm39) D1206G Het
Diaph3 T C 14: 87,328,448 (GRCm39) E98G possibly damaging Het
Dmbt1 A T 7: 130,700,855 (GRCm39) E1185V unknown Het
Enpp2 C T 15: 54,815,969 (GRCm39) R65H probably damaging Het
Gapdh A G 6: 125,139,819 (GRCm39) V195A probably benign Het
Gm14412 T C 2: 177,007,547 (GRCm39) D116G probably benign Het
Gucy2e A T 11: 69,126,560 (GRCm39) D273E probably benign Het
Gulp1 A T 1: 44,793,593 (GRCm39) K85* probably null Het
Htra3 A G 5: 35,836,515 (GRCm39) V59A probably benign Het
Iars2 A T 1: 185,055,400 (GRCm39) Y244* probably null Het
Igf2 G A 7: 142,208,153 (GRCm39) R64C probably damaging Het
Il18r1 A G 1: 40,510,893 (GRCm39) probably benign Het
Mical2 A G 7: 111,980,974 (GRCm39) D316G probably damaging Het
Myb A G 10: 21,028,516 (GRCm39) S116P probably damaging Het
Or2ag1b A T 7: 106,288,880 (GRCm39) D19E probably benign Het
Prob1 C A 18: 35,787,708 (GRCm39) G182V probably damaging Het
Psmb9 A G 17: 34,406,222 (GRCm39) probably null Het
Pudp T A 18: 50,701,670 (GRCm39) D21V probably damaging Het
Rhobtb2 G A 14: 70,025,376 (GRCm39) H633Y probably damaging Het
Rpf2 A G 10: 40,119,850 (GRCm39) probably null Het
Sbk2 A G 7: 4,960,507 (GRCm39) I221T probably damaging Het
Slc10a1 G A 12: 81,004,957 (GRCm39) T195I probably benign Het
Spata31h1 G T 10: 82,131,930 (GRCm39) P360Q probably benign Het
Speer1k G A 5: 10,998,949 (GRCm39) R29Q Het
Stom A G 2: 35,211,697 (GRCm39) V108A possibly damaging Het
Trdn G T 10: 33,181,087 (GRCm39) probably null Het
Trmt61a T A 12: 111,647,437 (GRCm39) V178D possibly damaging Het
Trpv4 C A 5: 114,782,702 (GRCm39) E87* probably null Het
Ttc6 T C 12: 57,776,117 (GRCm39) F1687S probably damaging Het
Urb2 T C 8: 124,757,247 (GRCm39) F985L probably benign Het
Vdac3 T A 8: 23,070,568 (GRCm39) K114N probably damaging Het
Zfp260 T C 7: 29,804,279 (GRCm39) S60P possibly damaging Het
Zkscan4 T A 13: 21,665,570 (GRCm39) S182T 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
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
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'- TTGCATGGCATTGTAACAAGTTCTC -3'
(R):5'- TCGGCCTTTAAACATCACTGAAAC -3'

Sequencing Primer
(F):5'- CAGATACCTGTTTGTTGGG -3'
(R):5'- GTGGTCTTCCCCAGGAAAGAAC -3'
Posted On 2022-03-25