Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Acad12'

506106

Institutional Source

Beutler Lab

Gene Symbol

Acad12

Ensembl Gene

ENSMUSG00000042647

Gene Name

acyl-Coenzyme A dehydrogenase family, member 12

Synonyms

9330129D05Rik

MMRRC Submission

044373-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6256 (G1)

Quality Score

210.009

Status

Not validated

Chromosome

Chromosomal Location

121596775-121618938 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121614086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 54 (V54E)

Ref Sequence

ENSEMBL: ENSMUSP00000142370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041252] [ENSMUST00000111776] [ENSMUST00000197916]

AlphaFold

D3Z7X0

Predicted Effect

probably benign
Transcript: ENSMUST00000041252
AA Change: V54E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647
AA Change: V54E

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000111776
AA Change: V54E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107406
Gene: ENSMUSG00000042647
AA Change: V54E

Domain	Start	End	E-Value	Type
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: ENSMUST00000197916
AA Change: V54E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000142370
Gene: ENSMUSG00000042647
AA Change: V54E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SCOP:d1j97a_	40	67	1e-2	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

Other mutations in Acad12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Acad12	APN	5	121604253	unclassified	probably benign
IGL02968:Acad12	APN	5	121610038	missense	probably benign	0.17
IGL03046:Acad12	UTSW	5	121609966	missense	probably benign	0.00
R0085:Acad12	UTSW	5	121604294	missense	possibly damaging	0.85
R0538:Acad12	UTSW	5	121607448	missense	possibly damaging	0.85
R1424:Acad12	UTSW	5	121604322	missense	probably benign	0.01
R1754:Acad12	UTSW	5	121607481	missense	probably benign	0.08
R1975:Acad12	UTSW	5	121604259	missense	probably benign
R3916:Acad12	UTSW	5	121599214	missense	probably damaging	1.00
R3917:Acad12	UTSW	5	121599214	missense	probably damaging	1.00
R4531:Acad12	UTSW	5	121598899	missense	probably benign
R4531:Acad12	UTSW	5	121598901	missense	probably benign
R4676:Acad12	UTSW	5	121607171	missense	probably damaging	1.00
R5057:Acad12	UTSW	5	121610089	missense	probably benign	0.00
R5166:Acad12	UTSW	5	121600020	missense	probably benign	0.04
R5286:Acad12	UTSW	5	121604295	missense	probably benign	0.27
R5641:Acad12	UTSW	5	121604021	unclassified	probably benign
R5716:Acad12	UTSW	5	121609983	missense	probably benign	0.00
R5761:Acad12	UTSW	5	121604180	unclassified	probably benign
R6006:Acad12	UTSW	5	121599236	missense	possibly damaging	0.46
R6729:Acad12	UTSW	5	121607935	missense	probably damaging	1.00
R6785:Acad12	UTSW	5	121609845	missense	probably damaging	1.00
R7161:Acad12	UTSW	5	121607373	missense	probably damaging	1.00
R7571:Acad12	UTSW	5	121607194	nonsense	probably null
R8383:Acad12	UTSW	5	121607373	missense	probably damaging	1.00
R8473:Acad12	UTSW	5	121607475	missense	probably damaging	1.00
Z1177:Acad12	UTSW	5	121599194	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCAGACTCAGGTCGTAAC -3'
(R):5'- AGCCTCCATCTCACCATGTG -3'

Sequencing Primer
(F):5'- CGTAACAGTTTCATGTAGCTCAGGC -3'
(R):5'- GGGTAAGAAGACTTTTCCAGCCTTC -3'

Posted On

2018-02-28