Incidental Mutation 'R2496:Tmem70'
ID 251133
Institutional Source Beutler Lab
Gene Symbol Tmem70
Ensembl Gene ENSMUSG00000025940
Gene Name transmembrane protein 70
Synonyms 1110020A09Rik, 2210416J16Rik
MMRRC Submission 040410-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2496 (G1)
Quality Score 205
Status Not validated
Chromosome 1
Chromosomal Location 16735431-16748499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 16735575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 15 (P15Q)
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: P15Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000070497
Gene: ENSMUSG00000025940
AA Change: P15Q

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 probably benign
Transcript: ENSMUST00000177501
AA Change: P15Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000135483
Gene: ENSMUSG00000025940
AA Change: P15Q

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: ENSMUST00000181371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186738
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,761,065 (GRCm39) W1926R probably damaging Het
Arhgef25 T C 10: 127,023,063 (GRCm39) T106A probably benign Het
Baz1b G A 5: 135,239,629 (GRCm39) R243Q probably damaging Het
Cdhr3 A G 12: 33,099,068 (GRCm39) Y508H probably benign Het
Cyp2d9 T A 15: 82,336,680 (GRCm39) W10R probably damaging Het
Dmxl1 A G 18: 50,013,858 (GRCm39) T1549A possibly damaging Het
Dnah8 A T 17: 31,070,705 (GRCm39) R4464W probably damaging Het
Dpp4 G A 2: 62,217,477 (GRCm39) T40M possibly damaging Het
Dync1h1 A G 12: 110,607,654 (GRCm39) H2723R possibly damaging Het
E2f3 C T 13: 30,095,289 (GRCm39) S333N probably damaging Het
Fam120a G T 13: 49,121,069 (GRCm39) A79E probably damaging Het
Fat3 A G 9: 15,877,399 (GRCm39) S3405P probably benign Het
Gaa T C 11: 119,174,531 (GRCm39) S793P possibly damaging Het
Galc A C 12: 98,193,540 (GRCm39) F350V probably damaging Het
Garre1 A G 7: 33,955,916 (GRCm39) V391A possibly damaging Het
Gm136 A G 4: 34,746,541 (GRCm39) C157R probably damaging Het
Gm3327 A C 14: 44,363,720 (GRCm39) N108T unknown Het
H2-M10.2 A G 17: 36,596,771 (GRCm39) Y102H possibly damaging Het
Hmcn1 A T 1: 150,490,972 (GRCm39) D4192E probably benign Het
Hpse2 A C 19: 43,001,482 (GRCm39) probably null Het
Idh3a T C 9: 54,510,633 (GRCm39) V362A probably benign Het
Kdm7a A T 6: 39,147,697 (GRCm39) probably null Het
Krt6b A G 15: 101,588,216 (GRCm39) V148A probably damaging Het
Lrba G A 3: 86,439,394 (GRCm39) R1977H probably damaging Het
Magi2 A T 5: 19,883,750 (GRCm39) Y134F probably benign Het
Mamdc4 T C 2: 25,455,914 (GRCm39) Y801C probably damaging Het
Maml1 T C 11: 50,149,371 (GRCm39) T790A probably benign Het
Map3k19 A G 1: 127,750,823 (GRCm39) Y843H probably damaging Het
Mdfic A T 6: 15,741,041 (GRCm39) H45L possibly damaging Het
Mlx C T 11: 100,979,080 (GRCm39) T87I probably benign Het
Mms22l T A 4: 24,521,269 (GRCm39) I382K probably benign Het
Mtf1 A G 4: 124,732,697 (GRCm39) N585S probably benign Het
Mylk2 C T 2: 152,755,588 (GRCm39) P251S probably damaging Het
Myorg A G 4: 41,499,165 (GRCm39) V155A probably benign Het
Nox4 A T 7: 86,955,958 (GRCm39) T157S probably benign Het
Oas2 A T 5: 120,886,682 (GRCm39) H161Q probably benign Het
Obscn A T 11: 58,994,268 (GRCm39) V1563E probably damaging Het
Or2n1b T C 17: 38,460,322 (GRCm39) V281A possibly damaging Het
Or55b3 T C 7: 102,126,354 (GRCm39) K241R probably damaging Het
Or6c203 A C 10: 129,009,966 (GRCm39) F308C probably benign Het
Pcdhb11 T A 18: 37,555,375 (GRCm39) I235N probably benign Het
Pcsk5 A T 19: 17,443,522 (GRCm39) C1212* probably null Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rsph4a A T 10: 33,784,094 (GRCm39) I239L possibly damaging Het
Setx A G 2: 29,034,813 (GRCm39) I433V probably benign Het
Smyd4 T C 11: 75,281,927 (GRCm39) S467P probably benign Het
Snai2 A T 16: 14,523,866 (GRCm39) H10L possibly damaging Het
Snw1 T C 12: 87,497,589 (GRCm39) I467V probably benign Het
Stab1 A T 14: 30,883,420 (GRCm39) C301S probably damaging Het
Tax1bp1 T A 6: 52,735,342 (GRCm39) probably null Het
Tmem87a T C 2: 120,224,859 (GRCm39) E134G probably damaging Het
Ubr4 C T 4: 139,200,516 (GRCm39) probably benign Het
Ugt2b37 C T 5: 87,402,569 (GRCm39) V21M probably damaging Het
Ugt2b38 T A 5: 87,569,551 (GRCm39) I259F probably damaging Het
Zfp804a T A 2: 82,066,188 (GRCm39) L53Q probably damaging Het
Other mutations in Tmem70
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1856:Tmem70 UTSW 1 16,747,497 (GRCm39) missense probably damaging 1.00
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
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'- TCATTTGCTGCCTGGAACC -3'
(R):5'- TTCGAAAGGAGAATCAATCCCTG -3'

Sequencing Primer
(F):5'- GCATTTTCTGCGCACGCG -3'
(R):5'- ATCCCTGGATTGACAGCAGCTG -3'
Posted On 2014-12-04