Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:Acmsd'

305083

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acmsd

Ensembl Gene

ENSMUSG00000026348

Gene Name

amino carboxymuconate semialdehyde decarboxylase

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

127657150-127695715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127676822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 116 (T116S)

Ref Sequence

ENSEMBL: ENSMUSP00000048482 (fasta)

Gene Model

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

AlphaFold

Q8R519

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038006
AA Change: T116S

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048482
Gene: ENSMUSG00000026348
AA Change: T116S

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: ENSMUST00000188163

Coding Region Coverage

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
Axin2	G	A	11: 108,833,772 (GRCm39)	G573D	possibly damaging	Het
B4galt2	A	G	4: 117,734,075 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cd55	T	A	1: 130,377,149 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Chi3l1	A	C	1: 134,116,981 (GRCm39)	E315A	probably damaging	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Htr2a	A	T	14: 74,882,502 (GRCm39)	I163F	probably damaging	Het
Ift70a2	T	C	2: 75,806,682 (GRCm39)	E610G	probably benign	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Prom2	T	A	2: 127,380,577 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,236,368 (GRCm39)	G279D	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,024,789 (GRCm39)	S469R	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	probably benign	Het

Other mutations in Acmsd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01586:Acmsd	APN	1	127,687,447 (GRCm39)	missense	probably damaging	1.00
IGL02203:Acmsd	APN	1	127,666,342 (GRCm39)	splice site	probably benign
IGL02209:Acmsd	APN	1	127,687,492 (GRCm39)	missense	probably damaging	1.00
IGL02429:Acmsd	APN	1	127,687,453 (GRCm39)	missense	probably damaging	1.00
IGL02577:Acmsd	APN	1	127,667,696 (GRCm39)	missense	probably benign	0.05
IGL03215:Acmsd	APN	1	127,685,750 (GRCm39)	nonsense	probably null
H8562:Acmsd	UTSW	1	127,676,795 (GRCm39)	missense	probably benign
R0535:Acmsd	UTSW	1	127,693,680 (GRCm39)	missense	probably benign	0.10
R0551:Acmsd	UTSW	1	127,694,070 (GRCm39)	missense	probably benign	0.05
R0593:Acmsd	UTSW	1	127,666,340 (GRCm39)	splice site	probably benign
R1282:Acmsd	UTSW	1	127,666,297 (GRCm39)	missense	probably damaging	0.99
R1633:Acmsd	UTSW	1	127,681,592 (GRCm39)	missense	probably benign	0.33
R1800:Acmsd	UTSW	1	127,687,493 (GRCm39)	nonsense	probably null
R3018:Acmsd	UTSW	1	127,676,853 (GRCm39)	missense	probably benign	0.11
R4195:Acmsd	UTSW	1	127,676,931 (GRCm39)	missense	probably damaging	1.00
R4196:Acmsd	UTSW	1	127,676,931 (GRCm39)	missense	probably damaging	1.00
R4288:Acmsd	UTSW	1	127,666,309 (GRCm39)	missense	probably damaging	1.00
R4591:Acmsd	UTSW	1	127,676,934 (GRCm39)	missense	probably damaging	0.99
R5172:Acmsd	UTSW	1	127,681,585 (GRCm39)	nonsense	probably null
R5637:Acmsd	UTSW	1	127,694,050 (GRCm39)	missense	probably damaging	0.99
R6147:Acmsd	UTSW	1	127,657,157 (GRCm39)	start gained	probably benign
R7055:Acmsd	UTSW	1	127,681,570 (GRCm39)	missense	probably benign	0.10
R7261:Acmsd	UTSW	1	127,687,561 (GRCm39)	missense	probably damaging	1.00
R7398:Acmsd	UTSW	1	127,657,172 (GRCm39)	start gained	probably benign
R8030:Acmsd	UTSW	1	127,676,898 (GRCm39)	missense	possibly damaging	0.50
R9081:Acmsd	UTSW	1	127,687,468 (GRCm39)	missense	possibly damaging	0.94
X0067:Acmsd	UTSW	1	127,687,468 (GRCm39)	missense	probably benign	0.42
Z1176:Acmsd	UTSW	1	127,673,539 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16