Incidental Mutation 'R7157:Dmac2l'
ID 557388
Institutional Source Beutler Lab
Gene Symbol Dmac2l
Ensembl Gene ENSMUSG00000054894
Gene Name distal membrane arm assembly component 2 like
Synonyms Atp5s, 1110015E18Rik, facyor B
MMRRC Submission 045258-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7157 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 69771724-69791434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69788562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 154 (N154Y)
Ref Sequence ENSEMBL: ENSMUSP00000021372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021372] [ENSMUST00000220460] [ENSMUST00000220539] [ENSMUST00000220916] [ENSMUST00000222950]
AlphaFold Q9CRA7
Predicted Effect probably benign
Transcript: ENSMUST00000021372
AA Change: N154Y

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894
AA Change: N154Y

DomainStartEndE-ValueType
PDB:3E4G|A 26 200 1e-102 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000220460
Predicted Effect probably benign
Transcript: ENSMUST00000220539
Predicted Effect probably benign
Transcript: ENSMUST00000220916
AA Change: N154Y

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000222950
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,276,400 (GRCm39) G701D probably damaging Het
6030468B19Rik T A 11: 117,693,780 (GRCm39) N82K probably damaging Het
Abca17 A T 17: 24,554,564 (GRCm39) V130E possibly damaging Het
Alpk2 T A 18: 65,399,348 (GRCm39) K2077* probably null Het
Aox1 T C 1: 58,322,651 (GRCm39) F73S probably benign Het
Ap3b1 T A 13: 94,668,542 (GRCm39) C965* probably null Het
Arhgef10 T A 8: 14,980,030 (GRCm39) V90E probably damaging Het
Atr T A 9: 95,751,953 (GRCm39) H523Q probably benign Het
Bicdl1 G T 5: 115,789,916 (GRCm39) Q511K possibly damaging Het
Capn15 A T 17: 26,184,228 (GRCm39) N150K probably damaging Het
Card6 A T 15: 5,129,591 (GRCm39) W602R probably benign Het
Clnk A T 5: 38,927,234 (GRCm39) S82T possibly damaging Het
Cmah T C 13: 24,620,612 (GRCm39) I282T probably damaging Het
Cog8 A G 8: 107,779,131 (GRCm39) I382T probably benign Het
Dhrs7c G T 11: 67,700,722 (GRCm39) probably null Het
Dhrs9 T A 2: 69,223,502 (GRCm39) D83E probably damaging Het
Dmgdh G A 13: 93,852,043 (GRCm39) G624E probably damaging Het
Dnajc30 C A 5: 135,093,569 (GRCm39) F155L probably damaging Het
Drc7 A C 8: 95,800,778 (GRCm39) K600T probably damaging Het
Efhb A C 17: 53,707,928 (GRCm39) I745S probably damaging Het
Elp1 ACTTCTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTCTTC 4: 56,781,176 (GRCm39) probably benign Het
Fasn T A 11: 120,701,291 (GRCm39) K1988* probably null Het
Gad2 T C 2: 22,525,035 (GRCm39) L273P probably damaging Het
Gm45861 A T 8: 28,032,536 (GRCm39) K887* probably null Het
Gm45861 A T 8: 28,032,537 (GRCm39) K887I unknown Het
Gm9195 A G 14: 72,718,221 (GRCm39) Y152H probably damaging Het
Grip1 G A 10: 119,781,061 (GRCm39) D237N probably damaging Het
Hamp A C 7: 30,641,961 (GRCm39) C65G possibly damaging Het
Hes3 A G 4: 152,372,581 (GRCm39) probably benign Het
Hgh1 T C 15: 76,254,650 (GRCm39) I342T probably damaging Het
Hlcs T A 16: 94,069,023 (GRCm39) K66* probably null Het
Ift80 A T 3: 68,898,277 (GRCm39) C19* probably null Het
Kbtbd12 C T 6: 88,595,650 (GRCm39) C60Y probably damaging Het
Kdm4c T A 4: 74,263,804 (GRCm39) V696E probably benign Het
Lect2 A G 13: 56,690,803 (GRCm39) I117T unknown Het
Lipn T A 19: 34,054,390 (GRCm39) Y209* probably null Het
Lpin3 G A 2: 160,740,627 (GRCm39) V391I probably benign Het
Mocs2 A T 13: 114,961,143 (GRCm39) I47L probably benign Het
Mogs T A 6: 83,095,488 (GRCm39) H768Q probably benign Het
Nbeal1 T A 1: 60,276,317 (GRCm39) I686N probably damaging Het
Nbeal1 T A 1: 60,299,793 (GRCm39) C1376* probably null Het
Ninl A G 2: 150,791,263 (GRCm39) Y1087H possibly damaging Het
Or10a3 A G 7: 108,480,475 (GRCm39) F113L probably benign Het
Or10ak14 A G 4: 118,611,615 (GRCm39) V42A possibly damaging Het
Or4k5 A G 14: 50,385,689 (GRCm39) L214S probably damaging Het
Or51b6b A C 7: 103,309,788 (GRCm39) L223R probably damaging Het
Or6s1 A G 14: 51,308,616 (GRCm39) V78A possibly damaging Het
Or8k30 T A 2: 86,339,369 (GRCm39) C189S probably damaging Het
Pkn1 A G 8: 84,398,363 (GRCm39) F768S probably damaging Het
Plekha2 A G 8: 25,553,957 (GRCm39) F82L probably damaging Het
Ppie T C 4: 123,028,900 (GRCm39) E111G probably benign Het
Rps6ka5 T C 12: 100,547,679 (GRCm39) Y277C probably damaging Het
Scgb2b12 A G 7: 32,026,102 (GRCm39) V30A probably benign Het
Serac1 A T 17: 6,124,476 (GRCm39) S16T probably benign Het
Sf3a3 T C 4: 124,616,693 (GRCm39) Y192H probably damaging Het
Slc14a1 A G 18: 78,145,626 (GRCm39) V436A probably benign Het
Smc3 T A 19: 53,630,329 (GRCm39) M1112K probably damaging Het
Tnk2 G A 16: 32,499,986 (GRCm39) G1017E probably damaging Het
Tnn T A 1: 159,953,947 (GRCm39) K603* probably null Het
Trpm6 T C 19: 18,815,462 (GRCm39) S1183P possibly damaging Het
Ttn A T 2: 76,614,724 (GRCm39) V16964E possibly damaging Het
Usp17le G A 7: 104,417,696 (GRCm39) T482I probably benign Het
Vmn1r219 T A 13: 23,347,525 (GRCm39) M238K probably damaging Het
Wfs1 C T 5: 37,124,516 (GRCm39) G792S probably benign Het
Xpa A T 4: 46,185,612 (GRCm39) L122Q probably damaging Het
Other mutations in Dmac2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02513:Dmac2l APN 12 69,787,819 (GRCm39) missense probably benign 0.00
R0344:Dmac2l UTSW 12 69,787,663 (GRCm39) unclassified probably benign
R0848:Dmac2l UTSW 12 69,788,584 (GRCm39) missense probably benign 0.30
R1236:Dmac2l UTSW 12 69,788,592 (GRCm39) critical splice donor site probably null
R1539:Dmac2l UTSW 12 69,787,845 (GRCm39) missense probably benign 0.04
R2143:Dmac2l UTSW 12 69,787,828 (GRCm39) missense probably damaging 0.97
R2144:Dmac2l UTSW 12 69,787,828 (GRCm39) missense probably damaging 0.97
R2145:Dmac2l UTSW 12 69,787,828 (GRCm39) missense probably damaging 0.97
R5957:Dmac2l UTSW 12 69,790,558 (GRCm39) missense probably benign
R7257:Dmac2l UTSW 12 69,788,443 (GRCm39) missense probably damaging 1.00
R9048:Dmac2l UTSW 12 69,787,752 (GRCm39) missense probably damaging 1.00
R9222:Dmac2l UTSW 12 69,788,554 (GRCm39) missense probably damaging 1.00
Z1177:Dmac2l UTSW 12 69,787,736 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GAGAACTGTTAGTCATGGGACA -3'
(R):5'- AAAATGTGGTCTTTTGTGGGGAC -3'

Sequencing Primer
(F):5'- TGGGACAGTAAAAAGGATTCTTAAC -3'
(R):5'- GTGCTGGGATACAAACTCCGTTC -3'
Posted On 2019-06-26