Mutagenetix > Incidental Mutation

Incidental Mutation 'R7398:Acmsd'

573944

Institutional Source

Beutler Lab

Gene Symbol

Acmsd

Ensembl Gene

ENSMUSG00000026348

Gene Name

amino carboxymuconate semialdehyde decarboxylase

Synonyms

MMRRC Submission

045480-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127657150-127695715 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 127657172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048482 (fasta)

Gene Model

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

AlphaFold

Q8R519

Predicted Effect

probably benign
Transcript: ENSMUST00000038006

SMART Domains

Protein: ENSMUSP00000048482
Gene: ENSMUSG00000026348

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

Coding Region Coverage

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

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
Abl1	T	A	2: 31,680,811 (GRCm39)	S368T	probably damaging	Het
Arid3b	A	T	9: 57,703,495 (GRCm39)	S445T	probably benign	Het
Brinp1	A	G	4: 68,759,591 (GRCm39)	V91A	probably benign	Het
Ccne1	A	G	7: 37,805,702 (GRCm39)		probably null	Het
Col3a1	A	T	1: 45,366,973 (GRCm39)	I249F	unknown	Het
Crybg3	T	C	16: 59,377,688 (GRCm39)	I1189V	probably benign	Het
Cyp2d34	A	T	15: 82,500,964 (GRCm39)	D389E	probably benign	Het
D130043K22Rik	A	C	13: 25,077,360 (GRCm39)	I998L	probably damaging	Het
Dgkq	A	G	5: 108,803,056 (GRCm39)	I298T	possibly damaging	Het
Dnah17	T	C	11: 117,971,550 (GRCm39)	E2161G	probably damaging	Het
Dnajc25	T	C	4: 59,017,824 (GRCm39)		probably null	Het
Dpp9	G	A	17: 56,496,405 (GRCm39)	R768*	probably null	Het
Dusp6	T	A	10: 99,100,740 (GRCm39)	N245K	probably damaging	Het
Eea1	C	A	10: 95,831,493 (GRCm39)	H195N	probably benign	Het
Efhc1	A	G	1: 21,059,744 (GRCm39)	E598G	probably benign	Het
Epb41l1	T	C	2: 156,376,682 (GRCm39)	V809A	probably damaging	Het
Gas8	T	A	8: 124,245,690 (GRCm39)	M1K	probably null	Het
Gcm1	G	A	9: 77,971,961 (GRCm39)	V301I	probably benign	Het
Gm11554	T	A	11: 99,695,085 (GRCm39)	S43C	unknown	Het
Gm7298	A	G	6: 121,758,912 (GRCm39)	I1177V	probably benign	Het
Gm8011	A	G	14: 42,285,918 (GRCm39)	T27A		Het
Hmcn1	A	G	1: 150,522,421 (GRCm39)	I3493T	probably benign	Het
Insrr	T	G	3: 87,716,039 (GRCm39)	I578S	probably damaging	Het
Kif13b	A	G	14: 64,994,972 (GRCm39)	D908G	probably null	Het
Lhcgr	G	C	17: 89,079,474 (GRCm39)	Q71E	probably benign	Het
Lrrc34	T	C	3: 30,697,491 (GRCm39)	D80G	probably damaging	Het
Lrrc7	C	A	3: 157,997,595 (GRCm39)	E156*	probably null	Het
Lrrc9	A	G	12: 72,547,590 (GRCm39)	D1255G	probably damaging	Het
Mcidas	A	G	13: 113,133,416 (GRCm39)	N116D	probably benign	Het
Mmp7	A	G	9: 7,697,594 (GRCm39)	N210D	probably damaging	Het
Morc3	A	G	16: 93,671,748 (GRCm39)	D926G	probably damaging	Het
Mrgpra9	A	G	7: 46,885,385 (GRCm39)	I94T	possibly damaging	Het
Muc16	C	A	9: 18,549,038 (GRCm39)	V5752F	possibly damaging	Het
Myo16	A	T	8: 10,612,183 (GRCm39)	D1276V	unknown	Het
Nlrc4	T	G	17: 74,753,537 (GRCm39)	E282A	probably damaging	Het
Nos2	T	A	11: 78,827,297 (GRCm39)	Y227*	probably null	Het
Obox5	A	C	7: 15,492,713 (GRCm39)	M223L	probably benign	Het
Or10ak13	C	A	4: 118,638,896 (GRCm39)	L295F	possibly damaging	Het
Pygm	G	A	19: 6,435,966 (GRCm39)	R139H	probably damaging	Het
Ranbp2	C	A	10: 58,303,099 (GRCm39)	P789T	probably damaging	Het
Riok2	T	G	17: 17,607,501 (GRCm39)	S350A	probably benign	Het
Rnf214	C	T	9: 45,778,845 (GRCm39)	V445I	possibly damaging	Het
Skida1	C	T	2: 18,051,083 (GRCm39)	V603I	unknown	Het
Skint6	T	A	4: 112,755,335 (GRCm39)	R747S	probably benign	Het
Slc24a5	G	A	2: 124,927,694 (GRCm39)	W331*	probably null	Het
Slc5a10	A	T	11: 61,564,405 (GRCm39)	C525S	probably benign	Het
Styxl2	A	G	1: 165,928,044 (GRCm39)	S523P	probably damaging	Het
Sult2b1	T	C	7: 45,380,718 (GRCm39)	Y288C	probably damaging	Het
Tagln3	G	T	16: 45,543,440 (GRCm39)	N67K	probably damaging	Het
Trav21-dv12	A	T	14: 54,114,162 (GRCm39)	H94L	probably benign	Het
Tshz2	A	G	2: 169,726,094 (GRCm39)	E230G	probably damaging	Het
Usb1	T	A	8: 96,071,931 (GRCm39)	H210Q	probably damaging	Het
Vill	C	T	9: 118,899,716 (GRCm39)	P767L	probably benign	Het
Vmn2r94	A	T	17: 18,477,603 (GRCm39)	N269K	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCAAGGCAGCATGCTGTAC -3'
(R):5'- CCATTCCATCTCCAATGAAGAGAG -3'

Sequencing Primer
(F):5'- GTGCTGAGTCCTAGTTACCAAAG -3'
(R):5'- TTCCATCTCCAATGAAGAGAGAAATC -3'

Posted On

2019-09-13