Mutagenetix > Incidental Mutation

Incidental Mutation 'R7055:Acmsd'

547822

Institutional Source

Beutler Lab

Gene Symbol

Acmsd

Ensembl Gene

ENSMUSG00000026348

Gene Name

amino carboxymuconate semialdehyde decarboxylase

Synonyms

MMRRC Submission

045152-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127657150-127695715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127681570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 178 (M178L)

Ref Sequence

ENSEMBL: ENSMUSP00000048482 (fasta)

Gene Model

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

AlphaFold

Q8R519

Predicted Effect

probably benign
Transcript: ENSMUST00000038006
AA Change: M178L

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048482
Gene: ENSMUSG00000026348
AA Change: M178L

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: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,062,083 (GRCm39)	S178P	probably damaging	Het
2610008E11Rik	C	T	10: 78,903,681 (GRCm39)	E212K	probably damaging	Het
Abcc4	A	T	14: 118,832,197 (GRCm39)	L736*	probably null	Het
Adpgk	T	A	9: 59,220,476 (GRCm39)	M266K	possibly damaging	Het
Aldh1b1	G	A	4: 45,802,909 (GRCm39)	R149H	possibly damaging	Het
Aox1	A	G	1: 58,338,927 (GRCm39)	T307A	probably benign	Het
C1galt1	T	C	6: 7,866,585 (GRCm39)	Y144H	probably damaging	Het
Cabin1	G	C	10: 75,579,117 (GRCm39)	Q440E	probably benign	Het
Casq2	A	G	3: 102,049,561 (GRCm39)	S231G	probably damaging	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,558,342 (GRCm39)	I490T	probably damaging	Het
Cep170b	T	A	12: 112,702,149 (GRCm39)	V314E	probably damaging	Het
Col4a4	T	C	1: 82,496,757 (GRCm39)	E413G	unknown	Het
Cyp3a25	A	C	5: 145,929,801 (GRCm39)	F189L	probably benign	Het
Dido1	T	A	2: 180,303,002 (GRCm39)	H1634L	probably benign	Het
Dnaja2	A	C	8: 86,275,303 (GRCm39)	V156G	probably benign	Het
Dpy19l4	T	C	4: 11,290,291 (GRCm39)		probably null	Het
Eomes	A	T	9: 118,309,567 (GRCm39)	N240I	possibly damaging	Het
Fads6	A	G	11: 115,176,229 (GRCm39)	F199L	probably benign	Het
Fbrs	T	C	7: 127,086,956 (GRCm39)		probably null	Het
Fndc4	T	C	5: 31,451,522 (GRCm39)	E153G	probably benign	Het
Fv1	TTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTC	4: 147,954,775 (GRCm39)		probably null	Het
Fzr1	T	C	10: 81,206,057 (GRCm39)	Y210C	probably damaging	Het
Gjc2	T	A	11: 59,067,856 (GRCm39)	M209L	unknown	Het
Gpr33	A	G	12: 52,071,036 (GRCm39)	M1T	probably null	Het
Gtf2a1	A	T	12: 91,553,523 (GRCm39)	I28N	possibly damaging	Het
Igf2r	A	C	17: 12,923,210 (GRCm39)	Y1200D	probably damaging	Het
Ivd	C	T	2: 118,703,730 (GRCm39)	T212I	probably damaging	Het
Jag1	A	G	2: 136,957,409 (GRCm39)	V101A	probably benign	Het
Kansl3	A	T	1: 36,404,701 (GRCm39)	V83D	possibly damaging	Het
Krt81	T	A	15: 101,359,006 (GRCm39)	I249F	probably benign	Het
Krtap21-1	G	A	16: 89,200,591 (GRCm39)	S17L	unknown	Het
Macf1	A	T	4: 123,302,989 (GRCm39)	H504Q	probably benign	Het
Map2	A	G	1: 66,455,983 (GRCm39)	T1499A	probably damaging	Het
Map3k9	T	C	12: 81,770,982 (GRCm39)	T892A	probably damaging	Het
Mcl1	G	A	3: 95,567,110 (GRCm39)	V178I	probably benign	Het
Mrs2	T	A	13: 25,188,937 (GRCm39)	M126L	probably benign	Het
Msantd1	C	A	5: 35,075,005 (GRCm39)	N9K	probably benign	Het
Myh9	C	T	15: 77,659,398 (GRCm39)	R116H	probably damaging	Het
Nfib	A	T	4: 82,248,662 (GRCm39)	D308E	probably benign	Het
Nme2	T	A	11: 93,846,416 (GRCm39)	I11F	probably damaging	Het
Nmnat3	A	G	9: 98,292,286 (GRCm39)	D111G	probably benign	Het
Or5d37	T	A	2: 87,924,045 (GRCm39)	L78F	probably damaging	Het
Papss2	T	C	19: 32,641,827 (GRCm39)	W501R	probably damaging	Het
Parn	A	G	16: 13,443,998 (GRCm39)	I384T	possibly damaging	Het
Pcdhb18	A	G	18: 37,623,864 (GRCm39)	D398G	possibly damaging	Het
Pdcl2	T	C	5: 76,465,771 (GRCm39)	N102D	probably benign	Het
Pdzrn3	C	A	6: 101,128,735 (GRCm39)	E644*	probably null	Het
Pi4ka	T	A	16: 17,134,879 (GRCm39)		probably benign	Het
Polg2	A	G	11: 106,668,040 (GRCm39)	F216L	probably damaging	Het
Prkcsh	A	G	9: 21,924,457 (GRCm39)	*522W	probably null	Het
Prkcz	G	T	4: 155,374,091 (GRCm39)	D108E	probably benign	Het
Pros1	T	C	16: 62,748,465 (GRCm39)	V646A	possibly damaging	Het
Ptprc	A	G	1: 138,017,309 (GRCm39)	I483T	probably damaging	Het
Rabep2	T	C	7: 126,044,485 (GRCm39)	I527T	possibly damaging	Het
Rad50	T	C	11: 53,578,929 (GRCm39)	K543R	probably benign	Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Sbpl	A	T	17: 24,172,276 (GRCm39)	N214K	unknown	Het
Scgb2b11	C	T	7: 31,909,907 (GRCm39)	E60K	possibly damaging	Het
Sgk3	G	A	1: 9,956,284 (GRCm39)	E331K	probably damaging	Het
Snx6	A	T	12: 54,830,864 (GRCm39)	L32Q	probably damaging	Het
Srgap3	T	A	6: 112,723,924 (GRCm39)	Q512L	probably damaging	Het
Srsf12	A	G	4: 33,226,157 (GRCm39)	D135G	probably damaging	Het
Steap4	A	G	5: 8,026,858 (GRCm39)	T274A	probably damaging	Het
Svep1	A	T	4: 58,064,275 (GRCm39)	V3236D	probably benign	Het
Svep1	A	T	4: 58,120,642 (GRCm39)	F797Y	probably benign	Het
Tmem116	T	C	5: 121,605,987 (GRCm39)	L113P	probably damaging	Het
Tnfrsf1b	A	G	4: 144,951,457 (GRCm39)	V161A	probably damaging	Het
Tnpo1	G	T	13: 98,991,987 (GRCm39)	Q622K	possibly damaging	Het
Top1mt	A	G	15: 75,550,523 (GRCm39)	V28A	probably benign	Het
Trim25	T	C	11: 88,890,750 (GRCm39)	S146P	probably benign	Het
Tuba3b	A	G	6: 145,566,935 (GRCm39)	D392G	possibly damaging	Het
Utrn	C	T	10: 12,623,665 (GRCm39)	R191Q	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy2	T	A	14: 63,137,748 (GRCm39)	S84T	probably benign	Het
Zfp873	T	A	10: 81,895,832 (GRCm39)	F225I	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- CATAATGAGTGGTGGATATTTCCTG -3'
(R):5'- TCAACAGTAGCCGTTATTACTCTC -3'

Sequencing Primer
(F):5'- TTCAAGCAGGACTAAATTGGTCAAG -3'
(R):5'- AACCCAAGAGTTGGTGCT -3'

Posted On

2019-05-13