Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Acmsd'

293057

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 #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

127657150-127695715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127687453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 245 (D245V)

Ref Sequence

ENSEMBL: ENSMUSP00000048482 (fasta)

Gene Model

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

AlphaFold

Q8R519

Predicted Effect

probably damaging
Transcript: ENSMUST00000038006
AA Change: D245V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048482
Gene: ENSMUSG00000026348
AA Change: D245V

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,935,289 (GRCm39)		probably benign	Het
Arhgap36	A	G	X: 48,583,583 (GRCm39)	D77G	possibly damaging	Het
Asap1	A	T	15: 64,039,589 (GRCm39)	M187K	probably damaging	Het
Aspm	T	C	1: 139,407,548 (GRCm39)	V2145A	probably benign	Het
Ccn6	T	C	10: 39,030,989 (GRCm39)	N178S	probably benign	Het
Cd46	T	C	1: 194,767,732 (GRCm39)	T110A	probably benign	Het
Chl1	T	A	6: 103,641,770 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,533,896 (GRCm39)	L493S	probably damaging	Het
Col11a2	C	T	17: 34,261,266 (GRCm39)	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,521,730 (GRCm39)		probably benign	Het
Frmd4b	T	C	6: 97,302,390 (GRCm39)		probably benign	Het
Glyr1	A	G	16: 4,837,240 (GRCm39)	M397T	probably benign	Het
Golm2	A	G	2: 121,742,468 (GRCm39)	T306A	probably benign	Het
Gtf2a1l	G	T	17: 88,976,141 (GRCm39)	M1I	probably null	Het
Hdac4	A	G	1: 91,940,417 (GRCm39)	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720 (GRCm39)	C422S	probably damaging	Het
Kng2	T	A	16: 22,830,829 (GRCm39)	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,755,130 (GRCm39)	A136S	probably damaging	Het
Ltf	T	C	9: 110,855,193 (GRCm39)	I402T	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 131,956,237 (GRCm39)	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,039,334 (GRCm39)	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,717,800 (GRCm39)	R114W	probably damaging	Het
Myh4	A	T	11: 67,149,808 (GRCm39)	K1818*	probably null	Het
Myo1h	C	T	5: 114,497,799 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 27,000,598 (GRCm39)	S1402T	probably benign	Het
Nutm2	A	G	13: 50,623,516 (GRCm39)	N71S	probably benign	Het
Oas1c	C	A	5: 120,940,133 (GRCm39)	M344I	probably benign	Het
Or10g7	T	A	9: 39,905,138 (GRCm39)	F11I	probably benign	Het
Phldb1	A	G	9: 44,612,247 (GRCm39)	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,718,453 (GRCm39)	E494G	probably benign	Het
Pole	T	C	5: 110,447,666 (GRCm39)	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,851,769 (GRCm39)	S203P	probably benign	Het
Pth2r	G	T	1: 65,385,998 (GRCm39)	M240I	probably benign	Het
Ptprr	T	A	10: 116,109,672 (GRCm39)	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,239,329 (GRCm39)	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,255,815 (GRCm39)	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,574,596 (GRCm39)	Y8H	probably benign	Het
Rph3a	A	T	5: 121,118,187 (GRCm39)		probably null	Het
Runx1t1	A	T	4: 13,865,294 (GRCm39)		probably benign	Het
Slc37a1	T	A	17: 31,519,483 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,025,714 (GRCm39)		probably benign	Het
Slc38a6	T	C	12: 73,397,342 (GRCm39)	V328A	probably benign	Het
Slf2	T	C	19: 44,930,167 (GRCm39)	S415P	probably benign	Het
Spata17	C	A	1: 186,872,631 (GRCm39)	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369 (GRCm39)	D2237E	probably benign	Het
Swap70	T	A	7: 109,863,179 (GRCm39)	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,755,443 (GRCm39)	D505G	probably benign	Het
Traf1	A	G	2: 34,839,115 (GRCm39)	V70A	probably benign	Het
Traf3	T	A	12: 111,209,899 (GRCm39)	V165E	probably benign	Het
Trpc5	T	C	X: 143,194,795 (GRCm39)	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,460,279 (GRCm39)	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,337,243 (GRCm39)	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,551 (GRCm39)	I221V	probably benign	Het
Vmn2r97	T	A	17: 19,150,596 (GRCm39)	V481E	possibly damaging	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
IGL02577:Acmsd	APN	1	127,667,696 (GRCm39)	missense	probably benign	0.05
IGL02724:Acmsd	APN	1	127,676,822 (GRCm39)	missense	possibly damaging	0.84
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