Mutagenetix > Incidental Mutation

Incidental Mutation 'R6019:Acad10'

478783

Institutional Source

Beutler Lab

Gene Symbol

Acad10

Ensembl Gene

ENSMUSG00000029456

Gene Name

acyl-Coenzyme A dehydrogenase family, member 10

Synonyms

2410021P16Rik

MMRRC Submission

044193-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121759089-121798577 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121772864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 472 (H472Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031412] [ENSMUST00000111770]

AlphaFold

Q8K370

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031412
AA Change: H472Q

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: H472Q

Domain	Start	End	E-Value	Type
Pfam:HAD_2	45	231	1.6e-14	PFAM
Pfam:Hydrolase	88	225	5e-8	PFAM
Pfam:APH	287	531	1.8e-52	PFAM
Pfam:Acyl-CoA_dh_N	660	787	1.7e-15	PFAM
Pfam:Acyl-CoA_dh_M	791	892	2.7e-20	PFAM
Pfam:Acyl-CoA_dh_1	904	1055	1.1e-35	PFAM
Pfam:Acyl-CoA_dh_2	919	1037	6.4e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111770
AA Change: H472Q

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: H472Q

Domain	Start	End	E-Value	Type
Pfam:HAD_2	45	231	2.3e-14	PFAM
Pfam:APH	287	523	3.2e-50	PFAM
Pfam:EcKinase	390	504	5.2e-8	PFAM
Pfam:Acyl-CoA_dh_N	660	787	3.4e-14	PFAM
Pfam:Acyl-CoA_dh_M	791	845	2.7e-13	PFAM
Pfam:Acyl-CoA_dh_1	904	1055	9.4e-36	PFAM
Pfam:Acyl-CoA_dh_2	919	1037	1.6e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143187

Meta Mutation Damage Score

0.5576

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

96% (81/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,201 (GRCm39)	H436Y	possibly damaging	Het
Ano8	G	A	8: 71,935,024 (GRCm39)	R393C	probably damaging	Het
Arhgap18	T	A	10: 26,736,646 (GRCm39)	V163E	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacng5	T	C	11: 107,775,214 (GRCm39)	M52V	probably benign	Het
Casz1	T	C	4: 149,031,495 (GRCm39)	C1249R	probably damaging	Het
Cenpj	C	T	14: 56,772,272 (GRCm39)	S1086N	probably benign	Het
Chi3l1	T	C	1: 134,117,310 (GRCm39)	F367S	probably benign	Het
Copg2	A	T	6: 30,787,868 (GRCm39)	I610N	possibly damaging	Het
Cpa6	T	C	1: 10,665,868 (GRCm39)	K57E	possibly damaging	Het
D5Ertd579e	C	T	5: 36,787,036 (GRCm39)	A111T	possibly damaging	Het
Dgat2	A	G	7: 98,803,838 (GRCm39)	M361T	probably benign	Het
Dnm3	G	T	1: 161,962,070 (GRCm39)	F46L	probably damaging	Het
Dph7	T	A	2: 24,853,552 (GRCm39)	C122*	probably null	Het
Dspp	A	T	5: 104,325,905 (GRCm39)	D756V	unknown	Het
Efcab3	T	C	11: 104,933,728 (GRCm39)		probably null	Het
Ep300	T	A	15: 81,525,583 (GRCm39)	M1469K	unknown	Het
Fsip2	T	C	2: 82,818,283 (GRCm39)	I4672T	possibly damaging	Het
Gapdh	A	T	6: 125,139,996 (GRCm39)	L67*	probably null	Het
Gpr75	A	G	11: 30,841,640 (GRCm39)	R182G	probably benign	Het
Gsr	G	T	8: 34,183,835 (GRCm39)	A366S	probably damaging	Het
Gypc	A	G	18: 32,663,248 (GRCm39)	I33T	probably damaging	Het
Hapln1	A	G	13: 89,756,219 (GRCm39)	D341G	probably benign	Het
Hnrnpd	A	G	5: 100,115,095 (GRCm39)	S148P	probably benign	Het
Hydin	A	T	8: 111,293,252 (GRCm39)	T3450S	probably benign	Het
Kif20b	T	C	19: 34,927,864 (GRCm39)	V1002A	probably benign	Het
Kif5c	T	C	2: 49,625,521 (GRCm39)	V597A	probably benign	Het
Kntc1	A	G	5: 123,900,579 (GRCm39)	T226A	probably benign	Het
Krt75	C	A	15: 101,482,158 (GRCm39)	V37L	probably benign	Het
L3mbtl2	A	G	15: 81,571,143 (GRCm39)	I668V	probably benign	Het
Lrp1b	G	A	2: 41,192,982 (GRCm39)	A480V	probably damaging	Het
Lrp1b	T	A	2: 41,366,821 (GRCm39)	D485V	probably damaging	Het
Lrrc37a	T	C	11: 103,347,422 (GRCm39)	H3091R	unknown	Het
Msi1	A	G	5: 115,589,550 (GRCm39)	Y361C	probably damaging	Het
Mtus1	G	T	8: 41,536,077 (GRCm39)	N546K	probably benign	Het
Mup17	T	A	4: 61,511,936 (GRCm39)	T113S	probably benign	Het
Myh11	T	A	16: 14,023,938 (GRCm39)	D1479V	probably damaging	Het
Ncor1	C	T	11: 62,263,987 (GRCm39)	E198K	probably benign	Het
Nrde2	A	G	12: 100,098,501 (GRCm39)	V722A	probably benign	Het
Or13a28	T	C	7: 140,217,925 (GRCm39)	F104L	probably benign	Het
Or51f23	C	T	7: 102,453,491 (GRCm39)	R269*	probably null	Het
Or5ac24	C	T	16: 59,165,798 (GRCm39)	D89N	possibly damaging	Het
Otog	A	G	7: 45,938,374 (GRCm39)	M2028V	probably benign	Het
Paox	T	A	7: 139,711,655 (GRCm39)	V169E	probably damaging	Het
Pcsk9	T	G	4: 106,314,073 (GRCm39)	D174A	probably benign	Het
Pde4b	A	G	4: 102,427,966 (GRCm39)	E41G	possibly damaging	Het
Pip4k2c	A	G	10: 127,034,943 (GRCm39)	I419T	probably damaging	Het
Plekhg3	G	T	12: 76,624,715 (GRCm39)	E1186*	probably null	Het
Pole	C	A	5: 110,472,380 (GRCm39)	P1548T	probably benign	Het
Pole	C	T	5: 110,472,381 (GRCm39)	P1548L	probably benign	Het
Polq	A	G	16: 36,882,126 (GRCm39)	E1430G	probably damaging	Het
Potefam3c	A	T	8: 69,881,966 (GRCm39)	C337S	probably benign	Het
Pramel47	G	A	5: 95,488,072 (GRCm39)	S2N	probably damaging	Het
Ptgr2	T	C	12: 84,344,920 (GRCm39)	S98P	probably damaging	Het
Ralgapa1	A	G	12: 55,730,827 (GRCm39)	Y1903H	possibly damaging	Het
Rasgrp1	T	C	2: 117,122,376 (GRCm39)	D338G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnase13	C	T	14: 52,159,860 (GRCm39)	C93Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
S100z	T	A	13: 95,613,934 (GRCm39)	M59L	probably benign	Het
Ska1	T	A	18: 74,332,992 (GRCm39)	D142V	probably benign	Het
Slc16a3	T	C	11: 120,847,931 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,880,233 (GRCm39)	V669A	probably benign	Het
Snrpd3	A	T	10: 75,368,029 (GRCm39)	T49S	probably damaging	Het
Sort1	T	C	3: 108,264,549 (GRCm39)	L856P	possibly damaging	Het
Srek1ip1	T	A	13: 104,970,830 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,875,796 (GRCm39)	S552P	probably damaging	Het
Stab2	A	G	10: 86,838,886 (GRCm39)	V60A	probably benign	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,494,525 (GRCm39)	H743Q	possibly damaging	Het
Tpo	G	T	12: 30,144,980 (GRCm39)	R590S	possibly damaging	Het
Trbv12-1	A	T	6: 41,090,780 (GRCm39)	T51S	probably benign	Het
Trbv30	C	T	6: 41,258,708 (GRCm39)	A40V	probably benign	Het
Tulp4	T	A	17: 6,283,490 (GRCm39)	V1173E	possibly damaging	Het
Upk1a	A	T	7: 30,311,810 (GRCm39)		probably null	Het
Vinac1	T	C	2: 128,879,610 (GRCm39)	Q772R	probably benign	Het
Vmn1r199	A	G	13: 22,566,769 (GRCm39)	D21G	possibly damaging	Het
Vmn2r7	T	C	3: 64,623,643 (GRCm39)	T317A	probably damaging	Het
Wdfy3	A	G	5: 101,997,289 (GRCm39)	V3112A	probably damaging	Het
Zbtb8os	T	C	4: 129,234,542 (GRCm39)	V40A	possibly damaging	Het
Zfp1002	T	A	2: 150,097,132 (GRCm39)	H99L	probably damaging	Het
Zwint	A	G	10: 72,492,685 (GRCm39)	K108E	possibly damaging	Het

Other mutations in Acad10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02379:Acad10	APN	5	121,760,106 (GRCm39)	missense	probably damaging	1.00
IGL02469:Acad10	APN	5	121,783,522 (GRCm39)	missense	probably damaging	1.00
IGL02526:Acad10	APN	5	121,784,923 (GRCm39)	missense	probably damaging	0.99
IGL02623:Acad10	APN	5	121,767,993 (GRCm39)	missense	possibly damaging	0.94
IGL02643:Acad10	APN	5	121,769,633 (GRCm39)	missense	probably benign
IGL02685:Acad10	APN	5	121,770,672 (GRCm39)	missense	probably benign
IGL03139:Acad10	APN	5	121,764,145 (GRCm39)	missense	probably benign
IGL03267:Acad10	APN	5	121,775,412 (GRCm39)	missense	probably benign	0.34
P0026:Acad10	UTSW	5	121,775,415 (GRCm39)	missense	probably damaging	1.00
R0099:Acad10	UTSW	5	121,759,353 (GRCm39)	missense	probably damaging	1.00
R0453:Acad10	UTSW	5	121,765,445 (GRCm39)	nonsense	probably null
R1051:Acad10	UTSW	5	121,764,143 (GRCm39)	missense	probably damaging	0.97
R1052:Acad10	UTSW	5	121,787,604 (GRCm39)	missense	possibly damaging	0.65
R1116:Acad10	UTSW	5	121,768,814 (GRCm39)	missense	probably damaging	1.00
R1548:Acad10	UTSW	5	121,764,104 (GRCm39)	splice site	probably benign
R1548:Acad10	UTSW	5	121,764,103 (GRCm39)	splice site	probably benign
R1571:Acad10	UTSW	5	121,759,411 (GRCm39)	missense	probably damaging	0.99
R1592:Acad10	UTSW	5	121,783,444 (GRCm39)	missense	probably damaging	0.99
R1741:Acad10	UTSW	5	121,785,899 (GRCm39)	missense	probably damaging	1.00
R1789:Acad10	UTSW	5	121,769,456 (GRCm39)	missense	possibly damaging	0.67
R1974:Acad10	UTSW	5	121,764,248 (GRCm39)	missense	possibly damaging	0.95
R2007:Acad10	UTSW	5	121,772,814 (GRCm39)	missense	probably damaging	1.00
R2085:Acad10	UTSW	5	121,787,523 (GRCm39)	missense	possibly damaging	0.79
R2351:Acad10	UTSW	5	121,767,990 (GRCm39)	missense	probably benign	0.23
R2511:Acad10	UTSW	5	121,769,630 (GRCm39)	missense	probably benign	0.02
R2570:Acad10	UTSW	5	121,768,267 (GRCm39)	missense	probably damaging	1.00
R3824:Acad10	UTSW	5	121,760,881 (GRCm39)	missense	probably benign
R3846:Acad10	UTSW	5	121,772,749 (GRCm39)	missense	probably benign	0.19
R4106:Acad10	UTSW	5	121,769,527 (GRCm39)	missense	probably damaging	0.98
R4107:Acad10	UTSW	5	121,769,527 (GRCm39)	missense	probably damaging	0.98
R4108:Acad10	UTSW	5	121,769,527 (GRCm39)	missense	probably damaging	0.98
R5569:Acad10	UTSW	5	121,764,143 (GRCm39)	missense	probably damaging	0.97
R5704:Acad10	UTSW	5	121,769,606 (GRCm39)	missense	probably benign	0.03
R5845:Acad10	UTSW	5	121,764,146 (GRCm39)	missense	probably benign
R5990:Acad10	UTSW	5	121,783,468 (GRCm39)	missense	probably damaging	1.00
R6145:Acad10	UTSW	5	121,760,096 (GRCm39)	missense	probably damaging	0.97
R6384:Acad10	UTSW	5	121,790,066 (GRCm39)	missense	probably benign	0.43
R6491:Acad10	UTSW	5	121,768,220 (GRCm39)	missense	probably damaging	1.00
R6608:Acad10	UTSW	5	121,770,555 (GRCm39)	missense	probably benign	0.02
R6941:Acad10	UTSW	5	121,787,420 (GRCm39)	missense	probably damaging	1.00
R7221:Acad10	UTSW	5	121,768,273 (GRCm39)	missense	probably damaging	1.00
R7283:Acad10	UTSW	5	121,787,538 (GRCm39)	missense	possibly damaging	0.79
R7355:Acad10	UTSW	5	121,768,780 (GRCm39)	nonsense	probably null
R7483:Acad10	UTSW	5	121,794,075 (GRCm39)	critical splice donor site	probably null
R7553:Acad10	UTSW	5	121,777,318 (GRCm39)	missense	probably damaging	1.00
R7721:Acad10	UTSW	5	121,784,929 (GRCm39)	splice site	probably null
R8075:Acad10	UTSW	5	121,790,148 (GRCm39)	missense	probably benign	0.00
R8400:Acad10	UTSW	5	121,764,268 (GRCm39)	missense	possibly damaging	0.82
R9171:Acad10	UTSW	5	121,767,981 (GRCm39)	missense	probably benign	0.14
X0061:Acad10	UTSW	5	121,760,876 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGACCTCACTTTGGAGCC -3'
(R):5'- TTGGGAGAATGAACAGCTAAGCTC -3'

Sequencing Primer
(F):5'- TCACTTTGGAGCCCCAGC -3'
(R):5'- TGAACAGCTAAGCTCATCCCATG -3'

Posted On

2017-06-26