Incidental Mutation 'R2143:Dmac2l'
ID 236537
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 040146-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2143 (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 G at 69787828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 88 (Q88R)
Ref Sequence ENSEMBL: ENSMUSP00000152430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021372] [ENSMUST00000220460] [ENSMUST00000220539] [ENSMUST00000220916] [ENSMUST00000222950]
AlphaFold Q9CRA7
Predicted Effect probably damaging
Transcript: ENSMUST00000021372
AA Change: Q88R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894
AA Change: Q88R

DomainStartEndE-ValueType
PDB:3E4G|A 26 200 1e-102 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000220460
AA Change: Q88R

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000220539
Predicted Effect probably damaging
Transcript: ENSMUST00000220916
AA Change: Q88R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000222950
Meta Mutation Damage Score 0.2429 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik G C 16: 88,556,053 (GRCm39) S89T probably benign Het
4930522L14Rik C G 5: 109,884,616 (GRCm39) C414S probably damaging Het
4930553M12Rik G A 4: 88,786,411 (GRCm39) T69I unknown Het
4930553M12Rik T A 4: 88,786,412 (GRCm39) T69S unknown Het
Apobr G A 7: 126,186,288 (GRCm39) E600K probably benign Het
Armc8 C A 9: 99,387,361 (GRCm39) R419L probably damaging Het
Ash1l T A 3: 88,892,726 (GRCm39) M1535K probably benign Het
Atf7ip2 A G 16: 10,058,509 (GRCm39) E316G probably null Het
Atp2a1 G A 7: 126,047,897 (GRCm39) R638* probably null Het
Atp8b4 A T 2: 126,216,430 (GRCm39) I672N probably damaging Het
Atrn T C 2: 130,799,916 (GRCm39) V431A probably benign Het
Babam1 T C 8: 71,851,084 (GRCm39) S116P probably damaging Het
Ccdc142 T C 6: 83,079,203 (GRCm39) L180P probably damaging Het
Cd52 T C 4: 133,821,048 (GRCm39) probably benign Het
Cdk17 T C 10: 93,053,881 (GRCm39) L125P probably damaging Het
Ckap5 A G 2: 91,396,090 (GRCm39) D531G probably benign Het
Cntn5 G T 9: 9,748,420 (GRCm39) P487Q probably damaging Het
Crispld1 C T 1: 17,819,860 (GRCm39) T286I probably benign Het
Crtap T C 9: 114,209,036 (GRCm39) Y336C probably damaging Het
Ctu2 T A 8: 123,205,891 (GRCm39) I213K probably benign Het
Dsc3 A G 18: 20,113,743 (GRCm39) F393S possibly damaging Het
Dsg2 T A 18: 20,712,218 (GRCm39) I118N probably damaging Het
Dstyk T A 1: 132,391,113 (GRCm39) M838K probably damaging Het
Elmo3 T C 8: 106,035,305 (GRCm39) V450A probably damaging Het
Eml5 A C 12: 98,776,864 (GRCm39) F1417C probably damaging Het
Enam T A 5: 88,640,779 (GRCm39) M147K probably benign Het
Entpd1 T C 19: 40,725,227 (GRCm39) Y409H probably damaging Het
Extl1 C A 4: 134,098,355 (GRCm39) E225D probably benign Het
Fbn2 A G 18: 58,186,065 (GRCm39) V1761A possibly damaging Het
Fsip2 A T 2: 82,820,615 (GRCm39) L5449F possibly damaging Het
Gabra5 G A 7: 57,138,763 (GRCm39) T95I probably damaging Het
Gal3st2c C T 1: 93,937,173 (GRCm39) Q373* probably null Het
Gbp5 A C 3: 142,209,593 (GRCm39) T180P probably damaging Het
Glb1 T C 9: 114,266,892 (GRCm39) L212P probably damaging Het
Gm11596 A T 11: 99,683,789 (GRCm39) C110* probably null Het
Gpat2 T C 2: 127,275,682 (GRCm39) F487L probably damaging Het
Hsph1 A T 5: 149,554,951 (GRCm39) H110Q probably damaging Het
Ikbke C A 1: 131,201,211 (GRCm39) V176L probably damaging Het
Ildr2 T C 1: 166,096,895 (GRCm39) V38A probably damaging Het
Inpp4a G T 1: 37,426,827 (GRCm39) C326F probably damaging Het
Irak2 T A 6: 113,649,788 (GRCm39) V141D probably benign Het
Jade1 G A 3: 41,559,143 (GRCm39) R408Q probably benign Het
Jmjd7 C A 2: 119,860,601 (GRCm39) probably null Het
Kdm7a C T 6: 39,145,884 (GRCm39) V348I possibly damaging Het
Kif20a A G 18: 34,758,657 (GRCm39) D42G possibly damaging Het
Klhl7 A T 5: 24,305,861 (GRCm39) M37L probably benign Het
Krt5 A G 15: 101,620,794 (GRCm39) I151T probably damaging Het
Krtap1-5 T C 11: 99,471,644 (GRCm39) I50V probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lrrc71 C T 3: 87,652,828 (GRCm39) W148* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1a T A 2: 121,132,426 (GRCm39) S843T probably damaging Het
Map1s T A 8: 71,363,608 (GRCm39) D48E probably damaging Het
Mast4 A G 13: 102,871,983 (GRCm39) F2462L possibly damaging Het
Mettl21e T A 1: 44,249,398 (GRCm39) Y86F probably benign Het
Myh6 A T 14: 55,190,411 (GRCm39) D1035E probably damaging Het
Naip6 C T 13: 100,436,367 (GRCm39) D719N probably damaging Het
Nat8f2 T G 6: 85,845,239 (GRCm39) H41P probably benign Het
Ncam1 T A 9: 49,454,319 (GRCm39) Q597L possibly damaging Het
Nek1 T A 8: 61,481,730 (GRCm39) I215K probably damaging Het
Nol11 A T 11: 107,071,881 (GRCm39) S237R probably benign Het
Npr2 T C 4: 43,648,166 (GRCm39) F870S probably damaging Het
Nsd1 T C 13: 55,408,210 (GRCm39) Y1285H probably damaging Het
Nup93 C T 8: 95,023,108 (GRCm39) Q229* probably null Het
Or4a15 C T 2: 89,193,447 (GRCm39) E109K probably damaging Het
Or7g12 G A 9: 18,900,099 (GRCm39) A272T probably benign Het
Pappa T A 4: 65,099,186 (GRCm39) Y568* probably null Het
Parva A G 7: 112,159,274 (GRCm39) D180G possibly damaging Het
Pask C T 1: 93,249,019 (GRCm39) A794T probably benign Het
Pax1 T A 2: 147,207,802 (GRCm39) C225S probably damaging Het
Pde4dip T A 3: 97,795,835 (GRCm39) E51V possibly damaging Het
Pde6c A T 19: 38,150,777 (GRCm39) H562L probably damaging Het
Pet100 T G 8: 3,672,355 (GRCm39) L14R probably damaging Het
Pfkfb2 T C 1: 130,626,460 (GRCm39) T438A probably benign Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Polr2d T A 18: 31,929,132 (GRCm39) L127Q probably damaging Het
Prkd1 A G 12: 50,536,694 (GRCm39) V130A possibly damaging Het
Psd3 T C 8: 68,417,003 (GRCm39) D45G probably damaging Het
Ptpn13 A G 5: 103,703,999 (GRCm39) T1344A probably benign Het
Ptpn6 T A 6: 124,701,947 (GRCm39) H406L probably benign Het
Ric1 A T 19: 29,510,652 (GRCm39) S78C probably damaging Het
Ric1 G A 19: 29,510,653 (GRCm39) S78N probably damaging Het
Scgb1b2 G T 7: 30,991,188 (GRCm39) probably benign Het
Senp7 A G 16: 55,990,169 (GRCm39) H639R probably benign Het
Sgtb A T 13: 104,260,767 (GRCm39) D72V probably damaging Het
Slc44a5 T C 3: 153,964,086 (GRCm39) M484T probably benign Het
Slc5a1 A G 5: 33,318,140 (GRCm39) K598E probably benign Het
Slit3 T A 11: 35,503,088 (GRCm39) probably null Het
Smc1b T C 15: 85,008,003 (GRCm39) H258R probably benign Het
Smu1 T C 4: 40,744,073 (GRCm39) D318G probably damaging Het
Sned1 T A 1: 93,199,406 (GRCm39) F495L probably damaging Het
Svs3a C A 2: 164,131,804 (GRCm39) S124Y probably damaging Het
Syngr4 A G 7: 45,536,464 (GRCm39) V186A probably benign Het
Tars3 G A 7: 65,305,539 (GRCm39) M254I possibly damaging Het
Tdpoz1 T A 3: 93,578,143 (GRCm39) R214* probably null Het
Tm2d3 A G 7: 65,344,987 (GRCm39) D54G probably damaging Het
Trim66 A T 7: 109,074,320 (GRCm39) I647N probably damaging Het
Triml2 T A 8: 43,646,548 (GRCm39) W346R probably damaging Het
Trp53bp1 A T 2: 121,046,545 (GRCm39) V1085D probably benign Het
Trpv2 T C 11: 62,483,612 (GRCm39) V483A probably benign Het
Ugp2 G T 11: 21,278,949 (GRCm39) N412K probably benign Het
Upf1 T C 8: 70,792,004 (GRCm39) D418G probably null Het
Vmn2r77 C A 7: 86,461,152 (GRCm39) P826Q probably damaging Het
Vrtn T C 12: 84,696,936 (GRCm39) M562T probably benign Het
Wdr55 A G 18: 36,895,419 (GRCm39) N132S possibly damaging Het
Wipf2 A T 11: 98,787,040 (GRCm39) R356S possibly damaging Het
Zdhhc6 T C 19: 55,287,228 (GRCm39) K411E probably benign Het
Zfp260 A G 7: 29,804,765 (GRCm39) K222E probably damaging Het
Zfp280d A G 9: 72,220,011 (GRCm39) N237S probably damaging Het
Zfp445 T G 9: 122,682,547 (GRCm39) S465R possibly damaging Het
Zfp821 A G 8: 110,450,979 (GRCm39) D324G 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
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'- GACAATGGAAATGACCTGCTTC -3'
(R):5'- CTCTGAGGATAGACATCAAACACAG -3'

Sequencing Primer
(F):5'- GATTATGAACGCCTCAGG -3'
(R):5'- ACAAACTTAATTTTCCTAAAACGGGC -3'
Posted On 2014-10-01