Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Acmsd'

45137

Institutional Source

Beutler Lab

Gene Symbol

Acmsd

Ensembl Gene

ENSMUSG00000026348

Gene Name

amino carboxymuconate semialdehyde decarboxylase

Synonyms

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127729413-127767978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127766333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 333 (K333N)

Ref Sequence

ENSEMBL: ENSMUSP00000048482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038006]

AlphaFold

Q8R519

Predicted Effect

probably benign
Transcript: ENSMUST00000038006
AA Change: K333N

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048482
Gene: ENSMUSG00000026348
AA Change: K333N

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_2	3	330	7.8e-78	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188163

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Acmsd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01586:Acmsd	APN	1	127759710	missense	probably damaging	1.00
IGL02203:Acmsd	APN	1	127738605	splice site	probably benign
IGL02209:Acmsd	APN	1	127759755	missense	probably damaging	1.00
IGL02429:Acmsd	APN	1	127759716	missense	probably damaging	1.00
IGL02577:Acmsd	APN	1	127739959	missense	probably benign	0.05
IGL02724:Acmsd	APN	1	127749085	missense	possibly damaging	0.84
IGL03215:Acmsd	APN	1	127758013	nonsense	probably null
H8562:Acmsd	UTSW	1	127749058	missense	probably benign
R0535:Acmsd	UTSW	1	127765943	missense	probably benign	0.10
R0593:Acmsd	UTSW	1	127738603	splice site	probably benign
R1282:Acmsd	UTSW	1	127738560	missense	probably damaging	0.99
R1633:Acmsd	UTSW	1	127753855	missense	probably benign	0.33
R1800:Acmsd	UTSW	1	127759756	nonsense	probably null
R3018:Acmsd	UTSW	1	127749116	missense	probably benign	0.11
R4195:Acmsd	UTSW	1	127749194	missense	probably damaging	1.00
R4196:Acmsd	UTSW	1	127749194	missense	probably damaging	1.00
R4288:Acmsd	UTSW	1	127738572	missense	probably damaging	1.00
R4591:Acmsd	UTSW	1	127749197	missense	probably damaging	0.99
R5172:Acmsd	UTSW	1	127753848	nonsense	probably null
R5637:Acmsd	UTSW	1	127766313	missense	probably damaging	0.99
R6147:Acmsd	UTSW	1	127729420	start gained	probably benign
R7055:Acmsd	UTSW	1	127753833	missense	probably benign	0.10
R7261:Acmsd	UTSW	1	127759824	missense	probably damaging	1.00
R7398:Acmsd	UTSW	1	127729435	start gained	probably benign
R8030:Acmsd	UTSW	1	127749161	missense	possibly damaging	0.50
R9081:Acmsd	UTSW	1	127759731	missense	possibly damaging	0.94
X0067:Acmsd	UTSW	1	127759731	missense	probably benign	0.42
Z1176:Acmsd	UTSW	1	127745802	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAGCCCATCCTGAGCTGAA -3'
(R):5'- GTCAACATAGAGACCCCGAGCCTTC -3'

Sequencing Primer
(F):5'- GACTCCACTTTCTGAAATAGCTAGAC -3'
(R):5'- gttttagacagtctcaagtagcc -3'

Posted On

2013-06-11