Incidental Mutation 'R9048:Dmac2l'
ID 688198
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 068874-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9048 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 69771724-69791434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69787752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 63 (R63C)
Ref Sequence ENSEMBL: ENSMUSP00000021372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021372] [ENSMUST00000220460] [ENSMUST00000220539] [ENSMUST00000220916] [ENSMUST00000222950]
AlphaFold Q9CRA7
Predicted Effect probably damaging
Transcript: ENSMUST00000021372
AA Change: R63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894
AA Change: R63C

DomainStartEndE-ValueType
PDB:3E4G|A 26 200 1e-102 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000220460
AA Change: R63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000220539
Predicted Effect probably damaging
Transcript: ENSMUST00000220916
AA Change: R63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222950
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl A T 16: 45,974,558 (GRCm39) V273D probably damaging Het
Als2 C T 1: 59,225,670 (GRCm39) V947M possibly damaging Het
Bltp1 T C 3: 37,065,926 (GRCm39) S67P Het
Bmp6 C T 13: 38,682,778 (GRCm39) T453I probably damaging Het
Ccdc141 T C 2: 76,853,872 (GRCm39) K1092R probably damaging Het
Ces1f T C 8: 93,989,695 (GRCm39) D407G probably benign Het
Cfap46 G T 7: 139,207,259 (GRCm39) H1887N unknown Het
Cldn10 G A 14: 119,025,656 (GRCm39) V30M probably damaging Het
Col4a1 T A 8: 11,281,944 (GRCm39) probably benign Het
Cyria G A 12: 12,412,286 (GRCm39) A183T probably damaging Het
Enpp7 A G 11: 118,881,455 (GRCm39) H200R probably damaging Het
Entrep3 T C 3: 89,093,048 (GRCm39) Y269H probably damaging Het
Epb41l3 C T 17: 69,517,218 (GRCm39) A82V probably benign Het
Exph5 A G 9: 53,284,935 (GRCm39) H672R possibly damaging Het
Glce A T 9: 61,967,413 (GRCm39) Y579* probably null Het
Gm9507 G A 10: 77,647,245 (GRCm39) P145S unknown Het
Igf2 A T 7: 142,207,759 (GRCm39) F113I probably benign Het
Il1a T C 2: 129,148,441 (GRCm39) S90G probably benign Het
Kalrn A G 16: 33,854,854 (GRCm39) I2002T possibly damaging Het
Kng2 G A 16: 22,806,522 (GRCm39) T559I probably benign Het
Leng8 A G 7: 4,146,931 (GRCm39) probably benign Het
Lpcat2 G T 8: 93,635,878 (GRCm39) A427S probably benign Het
Mapk14 A G 17: 28,947,358 (GRCm39) T175A probably benign Het
Mei1 C A 15: 81,969,036 (GRCm39) S329* probably null Het
Mfsd2a A G 4: 122,854,768 (GRCm39) I20T probably benign Het
Mtcl1 T C 17: 66,678,331 (GRCm39) N665S probably benign Het
Mup5 T A 4: 61,750,612 (GRCm39) Q177L probably benign Het
Nkx6-2 A G 7: 139,161,876 (GRCm39) F167S probably damaging Het
Or10j5 T C 1: 172,784,929 (GRCm39) V189A probably benign Het
Or13c7b T C 4: 43,820,584 (GRCm39) Y259C probably damaging Het
Or2t26 G A 11: 49,039,830 (GRCm39) V249I probably damaging Het
Or2y1c T A 11: 49,361,880 (GRCm39) W301R probably benign Het
Or55b3 A T 7: 102,126,684 (GRCm39) I131N probably damaging Het
Or5h18 G A 16: 58,847,598 (GRCm39) T224I probably benign Het
Pgap6 T C 17: 26,340,515 (GRCm39) V633A probably damaging Het
Phyh A T 2: 4,932,249 (GRCm39) M112L probably benign Het
Pip5k1c C A 10: 81,152,710 (GRCm39) probably benign Het
Pkn1 G A 8: 84,424,663 (GRCm39) R11C possibly damaging Het
Podn G C 4: 107,878,596 (GRCm39) R424G probably damaging Het
Ptdss2 A G 7: 140,732,797 (GRCm39) D222G probably damaging Het
Ryk A T 9: 102,774,468 (GRCm39) M401L probably benign Het
Sec61g A G 11: 16,458,129 (GRCm39) V22A probably benign Het
Septin8 A G 11: 53,427,530 (GRCm39) N250D probably damaging Het
Siglecg T C 7: 43,058,003 (GRCm39) L7P probably benign Het
Sin3a A G 9: 57,032,620 (GRCm39) D1188G probably damaging Het
Sipa1l2 G A 8: 126,174,465 (GRCm39) T1271M possibly damaging Het
Stard9 T A 2: 120,508,415 (GRCm39) L241H probably damaging Het
Stx8 A G 11: 67,902,211 (GRCm39) T132A probably damaging Het
Stxbp2 A G 8: 3,687,218 (GRCm39) I403V Het
Stxbp3 A T 3: 108,723,704 (GRCm39) M177K probably benign Het
Supt16 T A 14: 52,418,513 (GRCm39) Q248L probably damaging Het
Vmn2r91 A T 17: 18,356,122 (GRCm39) L596F probably benign Het
Zkscan3 T C 13: 21,580,686 (GRCm39) M1V probably null 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
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
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'- AAGTCTAGCCCAGCTGGTAC -3'
(R):5'- TGTAAGGAACCATGCACTGC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GTAAGGAACCATGCACTGCAAACC -3'
Posted On 2021-11-19