Mutagenetix > Incidental Mutation

Incidental Mutation 'R0085:Acad12'

19848

Institutional Source

Beutler Lab

Gene Symbol

Acad12

Ensembl Gene

ENSMUSG00000042647

Gene Name

acyl-Coenzyme A dehydrogenase family, member 12

Synonyms

9330129D05Rik

MMRRC Submission

038372-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R0085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121736340-121757001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121742357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 417 (I417T)

Ref Sequence

ENSEMBL: ENSMUSP00000046497 (fasta)

Gene Model

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

AlphaFold

D3Z7X0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041252
AA Change: I417T

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647
AA Change: I417T

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: I73T

SMART Domains

Protein: ENSMUSP00000121904
Gene: ENSMUSG00000042647
AA Change: I73T

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

0.3215

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

95% (71/75)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,106,088 (GRCm39)	T1009A	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Baat	T	C	4: 49,490,425 (GRCm39)		probably benign	Het
Bpi	T	A	2: 158,115,072 (GRCm39)	L311*	probably null	Het
Brd2	A	C	17: 34,332,233 (GRCm39)	F294L	probably damaging	Het
Carmil1	T	A	13: 24,209,850 (GRCm39)	E804D	probably benign	Het
Cd209g	A	T	8: 4,184,785 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,668,635 (GRCm39)	I554V	probably benign	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Dst	T	C	1: 34,268,268 (GRCm39)	S2897P	probably damaging	Het
Efcab7	T	C	4: 99,761,877 (GRCm39)		probably benign	Het
Fbxo2	T	C	4: 148,249,367 (GRCm39)		probably null	Het
Fgfr2	C	A	7: 129,797,993 (GRCm39)	R400L	probably damaging	Het
Hsd17b14	T	C	7: 45,205,834 (GRCm39)		probably benign	Het
Il23r	T	C	6: 67,463,206 (GRCm39)	N96D	probably damaging	Het
Ints13	T	A	6: 146,476,285 (GRCm39)		probably benign	Het
Khdc4	T	A	3: 88,619,046 (GRCm39)	S583R	probably damaging	Het
Lig1	A	G	7: 13,041,495 (GRCm39)	I776V	possibly damaging	Het
Madd	T	C	2: 90,993,083 (GRCm39)	I997V	probably benign	Het
Mgat4b	C	T	11: 50,121,826 (GRCm39)	H116Y	possibly damaging	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myo5b	A	C	18: 74,834,751 (GRCm39)	D937A	probably benign	Het
Nox3	T	C	17: 3,685,556 (GRCm39)	N584S	probably benign	Het
Ogfr	A	G	2: 180,232,830 (GRCm39)		probably null	Het
Or11g25	T	A	14: 50,723,791 (GRCm39)	M292K	probably benign	Het
Or13p3	T	C	4: 118,567,078 (GRCm39)	V158A	probably benign	Het
Or8b1b	T	C	9: 38,375,958 (GRCm39)	I207T	probably benign	Het
Osbpl6	G	T	2: 76,423,758 (GRCm39)	V728F	probably benign	Het
Picalm	T	A	7: 89,831,525 (GRCm39)	S453T	probably benign	Het
Piezo1	A	G	8: 123,228,354 (GRCm39)	L310P	probably damaging	Het
Pitrm1	C	T	13: 6,599,604 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,805,197 (GRCm39)	F3250L	probably damaging	Het
Plekha4	C	T	7: 45,193,373 (GRCm39)	R376*	probably null	Het
Pnma8b	A	T	7: 16,679,474 (GRCm39)	S153C	unknown	Het
Rp1l1	C	T	14: 64,259,744 (GRCm39)	R129W	probably damaging	Het
Ryr3	A	G	2: 112,690,108 (GRCm39)	V1147A	probably damaging	Het
Sema3d	G	A	5: 12,620,953 (GRCm39)	V520I	probably benign	Het
Sgsm1	A	G	5: 113,427,136 (GRCm39)		probably benign	Het
Slc13a2	A	G	11: 78,297,694 (GRCm39)	V58A	probably damaging	Het
Slc1a4	A	G	11: 20,254,510 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,074,690 (GRCm39)		probably benign	Het
Tab1	G	T	15: 80,040,094 (GRCm39)	A305S	probably benign	Het
Tmem30a	T	A	9: 79,678,576 (GRCm39)	T327S	probably benign	Het
Tpr	A	C	1: 150,293,164 (GRCm39)	E863A	possibly damaging	Het
Upk3bl	A	G	5: 136,088,969 (GRCm39)	N161D	probably benign	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Wdfy4	C	A	14: 32,800,200 (GRCm39)	R1975S	possibly damaging	Het
Zbtb18	C	T	1: 177,275,501 (GRCm39)	A287V	probably benign	Het
Zfp712	T	C	13: 67,189,256 (GRCm39)	T424A	probably benign	Het
Zfp791	G	T	8: 85,838,862 (GRCm39)	Y56*	probably null	Het

Other mutations in Acad12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R6729:Acad12	UTSW	5	121,745,998 (GRCm39)	missense	probably damaging	1.00
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'- TCAGCCACCATAAAACCTGCTCTTG -3'
(R):5'- GCTGTGACCCAGTTAGAAGCCTAAG -3'

Sequencing Primer
(F):5'- CTGAAGCCATGTAAAGTACATGC -3'
(R):5'- GTGCCTGTAGATAGCCCTAAC -3'

Posted On

2013-04-11