Incidental Mutation 'R6729:Acad12'
ID 529969
Institutional Source Beutler Lab
Gene Symbol Acad12
Ensembl Gene ENSMUSG00000042647
Gene Name acyl-Coenzyme A dehydrogenase family, member 12
Synonyms 9330129D05Rik
MMRRC Submission 044847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6729 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 121736340-121757001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121745998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 230 (H230Q)
Ref Sequence ENSEMBL: ENSMUSP00000107406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041252] [ENSMUST00000111776] [ENSMUST00000197916]
AlphaFold D3Z7X0
Predicted Effect probably damaging
Transcript: ENSMUST00000041252
AA Change: H230Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647
AA Change: H230Q

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 151 278 7e-16 PFAM
Pfam:Acyl-CoA_dh_M 282 383 1.9e-18 PFAM
Pfam:Acyl-CoA_dh_1 395 536 1.5e-27 PFAM
Pfam:Acyl-CoA_dh_2 411 526 1.7e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111776
AA Change: H230Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107406
Gene: ENSMUSG00000042647
AA Change: H230Q

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 151 278 1.9e-15 PFAM
Pfam:Acyl-CoA_dh_M 282 336 1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131338
SMART Domains Protein: ENSMUSP00000121904
Gene: ENSMUSG00000042647

DomainStartEndE-ValueType
PDB:2WBI|B 2 92 2e-26 PDB
SCOP:d1is2a3 3 58 3e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197916
SMART Domains Protein: ENSMUSP00000142370
Gene: ENSMUSG00000042647

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SCOP:d1j97a_ 40 67 1e-2 SMART
Meta Mutation Damage Score 0.6057 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ank3 T C 10: 69,644,755 (GRCm39) V73A probably damaging Het
Apbb1 A T 7: 105,214,588 (GRCm39) M28K probably damaging Het
Atp6v1f A G 6: 29,467,964 (GRCm39) D50G probably benign Het
Bltp3b T A 10: 89,641,546 (GRCm39) S906T probably benign Het
Cdkal1 G A 13: 29,658,678 (GRCm39) T356M probably damaging Het
Clca3a1 A G 3: 144,711,727 (GRCm39) I756T probably damaging Het
Cplane1 T C 15: 8,218,085 (GRCm39) probably null Het
Cyp17a1 A G 19: 46,659,020 (GRCm39) V207A probably benign Het
Dnah7c A G 1: 46,711,681 (GRCm39) E2636G possibly damaging Het
Gm13090 A T 4: 151,174,085 (GRCm39) probably benign Het
Nceh1 T A 3: 27,295,420 (GRCm39) L227* probably null Het
Nedd9 A G 13: 41,469,278 (GRCm39) M625T probably damaging Het
Or10n1 A T 9: 39,525,069 (GRCm39) M69L probably benign Het
Or4d1 G A 11: 87,805,676 (GRCm39) Q19* probably null Het
Or4d10c T A 19: 12,065,860 (GRCm39) M99L probably benign Het
Or8b53 A G 9: 38,667,124 (GRCm39) I47V probably benign Het
Pcsk4 T C 10: 80,160,935 (GRCm39) N297S probably damaging Het
Psg21 T A 7: 18,386,516 (GRCm39) I157F probably damaging Het
Rabep2 T C 7: 126,039,369 (GRCm39) V294A probably benign Het
Rsph1 A G 17: 31,496,226 (GRCm39) S2P unknown Het
Sacs A G 14: 61,447,967 (GRCm39) K3338E probably damaging Het
Slc35f4 T G 14: 49,556,417 (GRCm39) N112T probably benign Het
Slc43a3 T C 2: 84,768,629 (GRCm39) F83L probably damaging Het
Slc6a15 T C 10: 103,229,775 (GRCm39) V154A probably damaging Het
Synj2 T A 17: 6,036,289 (GRCm39) M1K probably null Het
Tcp1 G A 17: 13,142,140 (GRCm39) R378Q probably damaging Het
Tead2 A G 7: 44,866,658 (GRCm39) T6A probably benign Het
Tpte G T 8: 22,845,491 (GRCm39) V514L probably damaging Het
Trpm6 A G 19: 18,807,661 (GRCm39) N1069D probably damaging Het
Vmn2r105 C A 17: 20,428,605 (GRCm39) G824C probably damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp934 A T 13: 62,640,746 (GRCm39) N2K probably damaging Het
Other mutations in Acad12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00328:Acad12 APN 5 121,742,316 (GRCm39) unclassified probably benign
IGL02968:Acad12 APN 5 121,748,101 (GRCm39) missense probably benign 0.17
IGL03046:Acad12 UTSW 5 121,748,029 (GRCm39) missense probably benign 0.00
R0085:Acad12 UTSW 5 121,742,357 (GRCm39) missense possibly damaging 0.85
R0538:Acad12 UTSW 5 121,745,511 (GRCm39) missense possibly damaging 0.85
R1424:Acad12 UTSW 5 121,742,385 (GRCm39) missense probably benign 0.01
R1754:Acad12 UTSW 5 121,745,544 (GRCm39) missense probably benign 0.08
R1975:Acad12 UTSW 5 121,742,322 (GRCm39) missense probably benign
R3916:Acad12 UTSW 5 121,737,277 (GRCm39) missense probably damaging 1.00
R3917:Acad12 UTSW 5 121,737,277 (GRCm39) missense probably damaging 1.00
R4531:Acad12 UTSW 5 121,736,964 (GRCm39) missense probably benign
R4531:Acad12 UTSW 5 121,736,962 (GRCm39) missense probably benign
R4676:Acad12 UTSW 5 121,745,234 (GRCm39) missense probably damaging 1.00
R5057:Acad12 UTSW 5 121,748,152 (GRCm39) missense probably benign 0.00
R5166:Acad12 UTSW 5 121,738,083 (GRCm39) missense probably benign 0.04
R5286:Acad12 UTSW 5 121,742,358 (GRCm39) missense probably benign 0.27
R5641:Acad12 UTSW 5 121,742,084 (GRCm39) unclassified probably benign
R5716:Acad12 UTSW 5 121,748,046 (GRCm39) missense probably benign 0.00
R5761:Acad12 UTSW 5 121,742,243 (GRCm39) unclassified probably benign
R6006:Acad12 UTSW 5 121,737,299 (GRCm39) missense possibly damaging 0.46
R6256:Acad12 UTSW 5 121,752,149 (GRCm39) missense probably benign 0.05
R6785:Acad12 UTSW 5 121,747,908 (GRCm39) missense probably damaging 1.00
R7161:Acad12 UTSW 5 121,745,436 (GRCm39) missense probably damaging 1.00
R7571:Acad12 UTSW 5 121,745,257 (GRCm39) nonsense probably null
R8383:Acad12 UTSW 5 121,745,436 (GRCm39) missense probably damaging 1.00
R8473:Acad12 UTSW 5 121,745,538 (GRCm39) missense probably damaging 1.00
Z1177:Acad12 UTSW 5 121,737,257 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCATAGGAGTTTCCAGCTGTG -3'
(R):5'- AGATGGATAATACCACTTCTGGC -3'

Sequencing Primer
(F):5'- TGTGGCGCCCTGAGATG -3'
(R):5'- ACCACTTCTGGCCAAATTTTTATTG -3'
Posted On 2018-08-01