Mutagenetix > Incidental Mutations

Incidental Mutation 'R1975:Acad12'

221555

Institutional Source

Beutler Lab

Gene Symbol

Acad12

Ensembl Gene

ENSMUSG00000042647

Gene Name

acyl-Coenzyme A dehydrogenase family, member 12

Synonyms

9330129D05Rik

MMRRC Submission

039988-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121596775-121618938 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121604259 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 429 (T429A)

Ref Sequence

ENSEMBL: ENSMUSP00000046497 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000041252
AA Change: T429A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647
AA Change: T429A

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

SMART Domains

Protein: ENSMUSP00000107406
Gene: ENSMUSG00000042647

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

unknown
Transcript: ENSMUST00000131338
AA Change: T85A

SMART Domains

Protein: ENSMUSP00000121904
Gene: ENSMUSG00000042647
AA Change: T85A

Domain	Start	End	E-Value	Type
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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	A	C	11: 117,836,474	I275L	probably benign	Het
Aimp1	A	C	3: 132,677,099	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171	A319V	probably benign	Het
Ankar	C	T	1: 72,658,441	V1068I	possibly damaging	Het
Ccr2	C	T	9: 124,106,793	S370L	probably benign	Het
Chrnb4	A	G	9: 55,034,818	Y391H	probably damaging	Het
Clip1	A	G	5: 123,623,218	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,890,478	G1409R	probably damaging	Het
Dnah17	A	T	11: 118,096,536	L1320*	probably null	Het
Dock4	T	C	12: 40,779,642		probably benign	Het
Eml4	T	C	17: 83,410,193	S65P	probably benign	Het
Fblim1	A	T	4: 141,584,864	D183E	probably damaging	Het
Foxn1	T	C	11: 78,365,937		probably benign	Het
Gm973	A	T	1: 59,562,771	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,806,505	Q495*	probably null	Het
Hipk3	T	C	2: 104,471,173	I225V	probably benign	Het
Hrc	A	T	7: 45,336,214	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,138,476	I21T	probably benign	Het
Il15ra	A	G	2: 11,723,523	T133A	possibly damaging	Het
Krt78	T	C	15: 101,946,168	*1069W	probably null	Het
Lama3	T	A	18: 12,453,863	M761K	probably damaging	Het
Lonp1	T	C	17: 56,615,068	T771A	possibly damaging	Het
Macf1	T	C	4: 123,489,212	T1320A	probably damaging	Het
Mark3	A	T	12: 111,615,441	I115L	probably damaging	Het
Mcph1	T	G	8: 18,689,065		probably benign	Het
Med23	T	A	10: 24,910,766	N923K	probably benign	Het
Msrb2	T	G	2: 19,393,221	Y97D	probably damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Mylk	T	C	16: 34,880,303		probably null	Het
Nfrkb	T	A	9: 31,414,684	V1141E	possibly damaging	Het
Obscn	T	C	11: 59,067,729	E3675G	probably damaging	Het
Olfr1053	C	G	2: 86,315,154	G44A	probably damaging	Het
Olfr167	G	A	16: 19,514,836	P267S	probably damaging	Het
Olfr203	T	C	16: 59,303,728	S193P	probably damaging	Het
Olfr612	A	T	7: 103,538,994	F80Y	probably damaging	Het
Olfr619	A	G	7: 103,604,012		probably null	Het
Olfr720	A	T	14: 14,175,446	V212E	probably damaging	Het
Olfr746	T	A	14: 50,653,364	N42K	probably damaging	Het
Pan2	T	C	10: 128,320,413	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,209,245	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,529,713	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,141,256	I337V	probably benign	Het
Psma8	T	G	18: 14,730,976		probably null	Het
Rbl2	T	C	8: 91,085,462	S220P	probably benign	Het
Rere	T	A	4: 150,615,733	D1091E	probably damaging	Het
Rpa1	A	G	11: 75,306,176	C540R	probably damaging	Het
Sema3d	T	A	5: 12,563,318	V454E	probably damaging	Het
Sema3d	T	C	5: 12,584,998	V677A	probably benign	Het
Sgk2	A	G	2: 163,004,160	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,379,081	I370V	probably benign	Het
Slc22a19	A	G	19: 7,683,859		probably benign	Het
Slc26a1	T	A	5: 108,672,472	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,734,210	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,683,225	Y551F	probably damaging	Het
Slco2a1	T	A	9: 103,079,454	Y488*	probably null	Het
Stab2	A	C	10: 86,896,496		probably null	Het
Strn	T	C	17: 78,692,499		probably null	Het
Tbxas1	A	G	6: 38,948,641		probably benign	Het
Thumpd3	A	G	6: 113,055,877	N192S	possibly damaging	Het
Tns3	T	A	11: 8,435,738	I1386F	probably benign	Het
Treml4	T	A	17: 48,272,793	V219E	probably damaging	Het
Triobp	T	C	15: 78,966,708	V354A	probably benign	Het
Tspan8	A	G	10: 115,844,130	I217V	probably benign	Het
Tub	G	A	7: 109,027,835	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,399,865	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,255,551	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Zfp110	C	T	7: 12,848,502	T359I	probably benign	Het
Zfp322a	A	T	13: 23,356,904	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,587,085	R696*	probably null	Het

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
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
R6256:Acad12	UTSW	5	121614086	missense	probably benign	0.05
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

Predicted Primers

PCR Primer
(F):5'- GTTGAGAACCTTGCCCTCAG -3'
(R):5'- CAGGTGGCTTTGCTGAAGTAC -3'

Sequencing Primer
(F):5'- TTCTGGCCACCTAGACAGAGAG -3'
(R):5'- TACAGTTCAAGGACGTGCGTG -3'

Posted On

2014-08-25