Mutagenetix > Incidental Mutation

Incidental Mutation 'R8778:Acod1'

670143

Institutional Source

Beutler Lab

Gene Symbol

Acod1

Ensembl Gene

ENSMUSG00000022126

Gene Name

aconitate decarboxylase 1

Synonyms

Irg1

MMRRC Submission

068603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8778 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103284448-103294009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103292918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 481 (T481A)

Ref Sequence

ENSEMBL: ENSMUSP00000022722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022722]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022722
AA Change: T481A

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

SMART Domains

Protein: ENSMUSP00000022722
Gene: ENSMUSG00000022126
AA Change: T481A

Domain	Start	End	E-Value	Type
Pfam:MmgE_PrpD	7	450	1.8e-125	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

MGI Phenotype

PHENOTYPE: LPS-stimulated bone marrow macrophages derived from homozygous null mice fail to produce itaconate and exhibit significantly decreased succinate accumulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,149 (GRCm39)	C345S	possibly damaging	Het
Adamtsl1	T	C	4: 85,432,687 (GRCm39)	V5A	probably benign	Het
Ahnak2	T	A	12: 112,783,158 (GRCm38)	Q1023L		Het
Akt1	C	T	12: 112,625,102 (GRCm39)	E149K	probably benign	Het
Arhgap10	T	C	8: 78,140,240 (GRCm39)	E240G	probably damaging	Het
Asap1	G	A	15: 63,999,258 (GRCm39)	P516S	probably benign	Het
Ccdc88c	T	C	12: 100,911,483 (GRCm39)	R784G	probably benign	Het
Cep290	T	A	10: 100,350,374 (GRCm39)	L656*	probably null	Het
Chd2	A	C	7: 73,079,483 (GRCm39)	S1806A	possibly damaging	Het
Cyp4f15	G	T	17: 32,921,378 (GRCm39)	A475S	probably damaging	Het
Dnah12	A	G	14: 26,455,718 (GRCm39)	T814A	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Eif4g1	G	A	16: 20,492,196 (GRCm39)		probably benign	Het
Entpd8	G	A	2: 24,971,858 (GRCm39)	V9I	probably benign	Het
Frmd4a	C	T	2: 4,478,026 (GRCm39)	T65M	probably damaging	Het
Gabrr2	T	C	4: 33,095,517 (GRCm39)	Y469H	probably damaging	Het
Gjd3	T	C	11: 98,873,842 (GRCm39)	M1V	probably null	Het
Golga7	T	C	8: 23,735,944 (GRCm39)	N101D	possibly damaging	Het
Hebp1	A	G	6: 135,145,068 (GRCm39)	F10L	probably benign	Het
Hs3st3a1	T	A	11: 64,327,251 (GRCm39)	V120E	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Iho1	A	G	9: 108,282,807 (GRCm39)	S294P	probably damaging	Het
Inhbc	A	G	10: 127,193,693 (GRCm39)	S108P	probably damaging	Het
Itgbl1	T	A	14: 124,078,075 (GRCm39)	D188E	probably benign	Het
Lmo7	T	G	14: 102,149,503 (GRCm39)	S1091A	probably damaging	Het
Lmo7	T	C	14: 102,156,655 (GRCm39)	V1275A	probably benign	Het
Lrrc25	T	G	8: 71,070,242 (GRCm39)	L8V	possibly damaging	Het
Lyst	T	C	13: 13,810,361 (GRCm39)	I677T	possibly damaging	Het
Lyst	A	G	13: 13,903,152 (GRCm39)	N3174S	possibly damaging	Het
Mgst3	C	T	1: 167,203,032 (GRCm39)	V80I	probably benign	Het
Mtmr12	A	G	15: 12,270,006 (GRCm39)	N698S	probably benign	Het
Myo18a	A	G	11: 77,714,150 (GRCm39)	Y748C	probably damaging	Het
Myoz2	T	C	3: 122,800,156 (GRCm39)	N224S	possibly damaging	Het
Nebl	T	C	2: 17,409,078 (GRCm39)	Y340C	probably damaging	Het
Or10h28	T	C	17: 33,488,420 (GRCm39)	S241P	probably damaging	Het
Pcdha9	G	T	18: 37,132,244 (GRCm39)	V438L	possibly damaging	Het
Pramel13	T	C	4: 144,119,466 (GRCm39)	D367G	probably damaging	Het
Semp2l2b	T	A	10: 21,943,356 (GRCm39)	E208V	probably damaging	Het
Sfrp2	T	G	3: 83,674,093 (GRCm39)	L82R	probably damaging	Het
Spata7	T	A	12: 98,624,815 (GRCm39)	L239Q	probably damaging	Het
Syncrip	A	T	9: 88,338,294 (GRCm39)	I590N	unknown	Het
Syne1	T	C	10: 5,309,066 (GRCm39)	T648A	probably benign	Het
Tmc5	A	G	7: 118,222,816 (GRCm39)	Y172C	unknown	Het
Trim30a	A	T	7: 104,060,772 (GRCm39)	Y335N	probably benign	Het
Trmt10c	A	G	16: 55,855,372 (GRCm39)	S88P	probably benign	Het
Trpc3	T	C	3: 36,725,070 (GRCm39)	E302G	probably damaging	Het
Ttn	T	C	2: 76,591,580 (GRCm39)	T21030A	possibly damaging	Het
Uba6	G	T	5: 86,260,556 (GRCm39)	P1039T	possibly damaging	Het
Vmn2r75	A	T	7: 85,813,497 (GRCm39)	I435N	probably benign	Het
Zfp1008	T	C	13: 62,753,169 (GRCm39)	K73E	possibly damaging	Het
Zkscan5	T	C	5: 145,155,142 (GRCm39)	V271A	probably benign	Het

Other mutations in Acod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Acod1	APN	14	103,288,770 (GRCm39)	missense	probably damaging	1.00
IGL01450:Acod1	APN	14	103,288,919 (GRCm39)	missense	possibly damaging	0.77
IGL01624:Acod1	APN	14	103,292,669 (GRCm39)	missense	probably benign	0.03
IGL03323:Acod1	APN	14	103,292,730 (GRCm39)	missense	probably damaging	1.00
R0049:Acod1	UTSW	14	103,292,643 (GRCm39)	missense	possibly damaging	0.94
R0049:Acod1	UTSW	14	103,292,643 (GRCm39)	missense	possibly damaging	0.94
R0304:Acod1	UTSW	14	103,292,418 (GRCm39)	missense	probably damaging	0.97
R0321:Acod1	UTSW	14	103,292,565 (GRCm39)	missense	probably benign	0.13
R0520:Acod1	UTSW	14	103,288,952 (GRCm39)	missense	possibly damaging	0.78
R1467:Acod1	UTSW	14	103,292,003 (GRCm39)	missense	probably benign	0.00
R1467:Acod1	UTSW	14	103,292,003 (GRCm39)	missense	probably benign	0.00
R1541:Acod1	UTSW	14	103,286,769 (GRCm39)	missense	probably damaging	0.98
R2511:Acod1	UTSW	14	103,288,775 (GRCm39)	missense	probably damaging	1.00
R3856:Acod1	UTSW	14	103,292,882 (GRCm39)	missense	possibly damaging	0.92
R4616:Acod1	UTSW	14	103,292,781 (GRCm39)	missense	probably benign	0.10
R4671:Acod1	UTSW	14	103,284,508 (GRCm39)	missense	probably benign	0.15
R5080:Acod1	UTSW	14	103,286,744 (GRCm39)	missense	possibly damaging	0.83
R5206:Acod1	UTSW	14	103,292,731 (GRCm39)	missense	possibly damaging	0.90
R5992:Acod1	UTSW	14	103,292,471 (GRCm39)	missense	probably damaging	1.00
R7228:Acod1	UTSW	14	103,286,765 (GRCm39)	missense	probably benign	0.04
R7585:Acod1	UTSW	14	103,292,177 (GRCm39)	nonsense	probably null
R7762:Acod1	UTSW	14	103,288,776 (GRCm39)	missense	probably damaging	1.00
R8337:Acod1	UTSW	14	103,286,780 (GRCm39)	missense	possibly damaging	0.76
R8725:Acod1	UTSW	14	103,287,075 (GRCm39)	missense	probably damaging	1.00
R9210:Acod1	UTSW	14	103,292,526 (GRCm39)	missense	possibly damaging	0.95
R9432:Acod1	UTSW	14	103,292,414 (GRCm39)	missense	probably damaging	0.96
R9547:Acod1	UTSW	14	103,292,294 (GRCm39)	missense	probably benign	0.03
R9563:Acod1	UTSW	14	103,287,109 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTGCGCAACAAGTTCCGAG -3'
(R):5'- CACATCAGATCCTGTGTTGTTTG -3'

Sequencing Primer
(F):5'- GAGCCAATGCCTCAAAGATGCTATG -3'
(R):5'- GATATCTTGAAGGTAGTAGGACTGG -3'

Posted On

2021-04-30