Incidental Mutation 'R0848:Dmac2l'
ID 77446
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 039027-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0848 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 69771724-69791434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69788584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 161 (H161L)
Ref Sequence ENSEMBL: ENSMUSP00000152430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021372] [ENSMUST00000220460] [ENSMUST00000220539] [ENSMUST00000220916] [ENSMUST00000222950]
AlphaFold Q9CRA7
Predicted Effect probably benign
Transcript: ENSMUST00000021372
AA Change: H161L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894
AA Change: H161L

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: H161L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000222950
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.5%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,114,984 (GRCm39) H181Q probably damaging Het
Abca13 T A 11: 9,632,011 (GRCm39) L4977* probably null Het
Abca8a T A 11: 109,919,016 (GRCm39) Y1550F probably damaging Het
Actr2 C T 11: 20,022,584 (GRCm39) E296K probably benign Het
Agtpbp1 A T 13: 59,681,753 (GRCm39) probably benign Het
Anks1b A C 10: 89,906,987 (GRCm39) E268A probably damaging Het
C1rl A G 6: 124,485,465 (GRCm39) T279A probably benign Het
C5ar2 T C 7: 15,971,526 (GRCm39) T134A probably benign Het
Cdkl3 G A 11: 51,902,094 (GRCm39) R101Q probably damaging Het
Celsr2 A T 3: 108,321,654 (GRCm39) F386Y probably benign Het
Chd1 C T 17: 15,990,503 (GRCm39) P1685L probably damaging Het
Chrne G T 11: 70,506,239 (GRCm39) H402Q probably benign Het
Clvs1 A G 4: 9,282,003 (GRCm39) D149G possibly damaging Het
Cntnap5b T C 1: 100,182,888 (GRCm39) Y620H probably benign Het
Col6a1 A G 10: 76,549,458 (GRCm39) probably null Het
Cyp2d26 T A 15: 82,674,434 (GRCm39) I483F probably benign Het
Dlx6 C T 6: 6,863,665 (GRCm39) Q96* probably null Het
Eif1a T A 18: 46,741,114 (GRCm39) N116K possibly damaging Het
Epb41l5 A T 1: 119,477,684 (GRCm39) C696S probably benign Het
Exoc7 A G 11: 116,186,074 (GRCm39) S376P possibly damaging Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gimap7 T C 6: 48,700,657 (GRCm39) I81T probably damaging Het
Gtf2a1l T C 17: 89,001,657 (GRCm39) V171A probably damaging Het
Hax1 A G 3: 89,902,940 (GRCm39) S253P probably damaging Het
Hsd3b5 A T 3: 98,526,671 (GRCm39) D258E probably damaging Het
Kcnb1 G T 2: 166,948,187 (GRCm39) F220L probably damaging Het
Kif1a T A 1: 92,947,620 (GRCm39) Y1708F probably damaging Het
Krt14 A T 11: 100,095,090 (GRCm39) I379N probably damaging Het
Lpxn A G 19: 12,781,401 (GRCm39) I40V probably benign Het
Lrp1 C T 10: 127,389,231 (GRCm39) probably null Het
Lyst G A 13: 13,809,515 (GRCm39) R395H probably benign Het
Mindy4 G A 6: 55,295,271 (GRCm39) W737* probably null Het
Mki67 C A 7: 135,302,772 (GRCm39) R754L probably benign Het
Morf4l1 A G 9: 89,982,502 (GRCm39) V144A probably benign Het
Mvb12a T C 8: 71,998,422 (GRCm39) S186P probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Nipal1 A G 5: 72,825,183 (GRCm39) N292S probably damaging Het
Nqo2 T G 13: 34,156,461 (GRCm39) probably null Het
Or14a256 T C 7: 86,264,848 (GRCm39) Y335C probably damaging Het
Or2d3b A G 7: 106,514,200 (GRCm39) K265R probably benign Het
Or5ak24 A T 2: 85,260,365 (GRCm39) N269K probably benign Het
Or6c214 C T 10: 129,591,077 (GRCm39) V81I probably benign Het
Osbpl7 C A 11: 96,951,350 (GRCm39) P507Q probably damaging Het
Pcdhb1 G A 18: 37,400,475 (GRCm39) G809S probably benign Het
Pcm1 T C 8: 41,735,720 (GRCm39) V846A probably damaging Het
Phf3 A G 1: 30,902,253 (GRCm39) L20P probably damaging Het
Pih1d1 A G 7: 44,807,041 (GRCm39) T58A probably damaging Het
Plekhn1 A G 4: 156,308,021 (GRCm39) probably null Het
Plvap A T 8: 71,959,526 (GRCm39) L422Q probably damaging Het
Polq C T 16: 36,882,492 (GRCm39) A1273V probably benign Het
Prelid2 T A 18: 42,068,289 (GRCm39) I51F probably damaging Het
Ptpn18 G A 1: 34,501,783 (GRCm39) D8N probably damaging Het
Ptpra T A 2: 130,360,911 (GRCm39) F190Y probably damaging Het
Pus7l A G 15: 94,438,393 (GRCm39) S151P probably benign Het
Rsph6a G A 7: 18,791,595 (GRCm39) D255N probably benign Het
Serpinb6c A T 13: 34,083,288 (GRCm39) V42D probably damaging Het
Slc7a13 A G 4: 19,818,866 (GRCm39) N22S probably benign Het
Snx5 G A 2: 144,095,726 (GRCm39) R312C probably damaging Het
Stard9 T C 2: 120,526,304 (GRCm39) S854P probably damaging Het
Syne2 AAGAG AAGAGAGAG 12: 76,144,733 (GRCm39) probably null Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tlr12 A G 4: 128,510,084 (GRCm39) I722T probably benign Het
Tmem101 A T 11: 102,046,692 (GRCm39) M59K possibly damaging Het
Trim34a C T 7: 103,910,331 (GRCm39) R378C probably benign Het
Trim35 T A 14: 66,546,574 (GRCm39) M447K probably benign Het
Trps1 C A 15: 50,524,945 (GRCm39) S704I possibly damaging Het
Vmn1r231 T A 17: 21,110,433 (GRCm39) S161C probably damaging Het
Vps13a A C 19: 16,676,261 (GRCm39) N1237K probably damaging Het
Zfp619 G T 7: 39,185,983 (GRCm39) C671F 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
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
R7157:Dmac2l UTSW 12 69,788,562 (GRCm39) missense probably benign 0.06
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'- TTCATAGGACAGTCAGAGACAGGACAG -3'
(R):5'- CAAGTGTTAcaggtgaaaatgaggcca -3'

Sequencing Primer
(F):5'- CAGTCCTGTCCTAAGTGAACTGAG -3'
(R):5'- ccaggaagcccagcaac -3'
Posted On 2013-10-16