Incidental Mutation 'R8789:Dmac2'
ID 670814
Institutional Source Beutler Lab
Gene Symbol Dmac2
Ensembl Gene ENSMUSG00000057229
Gene Name distal membrane arm assembly complex 2
Synonyms Atp5sl, 2310004L02Rik, C030044E10Rik
MMRRC Submission 068608-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.396) question?
Stock # R8789 (G1)
Quality Score 222.009
Status Validated
Chromosome 7
Chromosomal Location 25318839-25324975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25320495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 65 (S65T)
Ref Sequence ENSEMBL: ENSMUSP00000076563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077338] [ENSMUST00000085953] [ENSMUST00000126925]
AlphaFold Q9D7K5
Predicted Effect probably benign
Transcript: ENSMUST00000077338
AA Change: S65T

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229
AA Change: S65T

DomainStartEndE-ValueType
PDB:3E4G|A 82 213 2e-10 PDB
SCOP:d1fqva2 109 209 2e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085953
AA Change: S64T

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229
AA Change: S64T

DomainStartEndE-ValueType
PDB:3E4G|A 81 212 3e-10 PDB
SCOP:d1fqva2 108 208 3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126925
AA Change: S59T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 C T 2: 158,478,604 (GRCm39) Q485* probably null Het
Arsa C T 15: 89,358,260 (GRCm39) V350I probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cav2 T C 6: 17,281,996 (GRCm39) Y85H probably damaging Het
Ccdc93 A G 1: 121,424,784 (GRCm39) Q570R probably damaging Het
Cd72 A G 4: 43,452,628 (GRCm39) S122P probably damaging Het
Cep72 A G 13: 74,186,367 (GRCm39) M619T possibly damaging Het
Cers5 C A 15: 99,637,551 (GRCm39) V233F possibly damaging Het
Cntn5 A G 9: 9,673,292 (GRCm39) Y803H probably damaging Het
Crybg2 T C 4: 133,801,554 (GRCm39) S596P probably benign Het
Crybg3 T C 16: 59,375,359 (GRCm39) E251G probably benign Het
Csmd1 T A 8: 17,266,722 (GRCm39) N68I probably damaging Het
Ctr9 A G 7: 110,642,933 (GRCm39) N466S possibly damaging Het
Cyp2a4 T A 7: 26,007,106 (GRCm39) I71N probably damaging Het
Cyp2j11 C T 4: 96,227,405 (GRCm39) E204K probably damaging Het
Cyp4f39 T C 17: 32,710,848 (GRCm39) F469S probably damaging Het
Duxf1 T C 10: 58,059,426 (GRCm39) N443D unknown Het
Elp3 G A 14: 65,802,870 (GRCm39) P243S probably damaging Het
Foxg1 T A 12: 49,432,143 (GRCm39) M292K probably benign Het
Fsip2 T C 2: 82,815,822 (GRCm39) S3852P possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm10912 A C 2: 103,897,046 (GRCm39) K62Q possibly damaging Het
Grk2 G A 19: 4,338,511 (GRCm39) R474C probably damaging Het
Hapstr1 T C 16: 8,660,865 (GRCm39) I114T probably benign Het
Hoxc12 T C 15: 102,846,732 (GRCm39) I208T probably benign Het
Htra3 G A 5: 35,836,602 (GRCm39) P30L unknown Het
Itgal A G 7: 126,904,421 (GRCm39) H298R probably benign Het
Klrb1c A G 6: 128,761,148 (GRCm39) S160P probably benign Het
Or13c7d A T 4: 43,770,793 (GRCm39) C73S probably damaging Het
Or2z9 T C 8: 72,854,135 (GRCm39) F177S probably damaging Het
Phrf1 T A 7: 140,836,581 (GRCm39) D284E unknown Het
Pmp2 T A 3: 10,247,564 (GRCm39) I42F probably damaging Het
Psg26 T C 7: 18,216,494 (GRCm39) D115G probably damaging Het
Pym1 T C 10: 128,601,073 (GRCm39) V32A probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Recql4 T C 15: 76,588,546 (GRCm39) H1105R probably benign Het
Rimkla T C 4: 119,349,607 (GRCm39) Y17C probably damaging Het
Rnf207 C T 4: 152,391,924 (GRCm39) R623K probably benign Het
Ros1 A T 10: 51,999,328 (GRCm39) N1207K probably damaging Het
Scg2 G T 1: 79,413,500 (GRCm39) Q368K probably benign Het
Serpinb6e G A 13: 34,017,213 (GRCm39) T269I probably damaging Het
Tsc22d2 A T 3: 58,367,438 (GRCm39) K663* probably null Het
Ubr4 T A 4: 139,137,494 (GRCm39) N1026K possibly damaging Het
Ubtfl1 A G 9: 18,321,609 (GRCm39) D379G unknown Het
Vps13d T C 4: 144,795,743 (GRCm39) M3700V Het
Zscan4-ps3 T C 7: 11,346,288 (GRCm39) L136P probably damaging Het
Other mutations in Dmac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03284:Dmac2 APN 7 25,321,851 (GRCm39) critical splice donor site probably null
R0390:Dmac2 UTSW 7 25,320,454 (GRCm39) missense probably damaging 1.00
R1824:Dmac2 UTSW 7 25,324,217 (GRCm39) missense probably damaging 1.00
R8548:Dmac2 UTSW 7 25,324,217 (GRCm39) missense probably damaging 1.00
R9130:Dmac2 UTSW 7 25,320,448 (GRCm39) missense probably damaging 1.00
R9261:Dmac2 UTSW 7 25,320,345 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AGCTCCACGTTCAACCTCAG -3'
(R):5'- CATGAGAGATCTGAGTTGTAGCTG -3'

Sequencing Primer
(F):5'- ACGTTCAACCTCAGTCCTTTC -3'
(R):5'- TGTCTGAGAGGCCAGCTTGAC -3'
Posted On 2021-04-30