Mutagenetix > Incidental Mutation

Incidental Mutation 'R7261:Acmsd'

564594

Institutional Source

Beutler Lab

Gene Symbol

Acmsd

Ensembl Gene

ENSMUSG00000026348

Gene Name

amino carboxymuconate semialdehyde decarboxylase

Synonyms

MMRRC Submission

045387-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127657150-127695715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127687561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 281 (I281R)

Ref Sequence

ENSEMBL: ENSMUSP00000048482 (fasta)

Gene Model

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

AlphaFold

Q8R519

Predicted Effect

probably damaging
Transcript: ENSMUST00000038006
AA Change: I281R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048482
Gene: ENSMUSG00000026348
AA Change: I281R

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

Meta Mutation Damage Score

0.5645

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,259,526 (GRCm39)	F1954L	probably damaging	Het
Adamts2	A	T	11: 50,677,424 (GRCm39)	M742L	possibly damaging	Het
Adgrf4	G	A	17: 42,978,326 (GRCm39)	T339I	probably benign	Het
Aff1	T	C	5: 103,976,245 (GRCm39)	S448P	probably damaging	Het
Agbl2	A	T	2: 90,619,288 (GRCm39)	S38C	possibly damaging	Het
Akap7	C	T	10: 25,147,416 (GRCm39)	D105N	possibly damaging	Het
Arhgap21	A	G	2: 20,885,177 (GRCm39)	F677L	probably benign	Het
Atf6b	G	T	17: 34,869,792 (GRCm39)	V271F	probably damaging	Het
B3gnt5	A	G	16: 19,588,123 (GRCm39)	Y114C	probably damaging	Het
Casp7	T	A	19: 56,424,765 (GRCm39)	D161E	probably benign	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cfap74	C	A	4: 155,549,831 (GRCm39)	P155T	unknown	Het
Champ1	A	G	8: 13,928,517 (GRCm39)	D225G	possibly damaging	Het
Chrng	A	T	1: 87,134,962 (GRCm39)		probably null	Het
Cnksr1	T	C	4: 133,963,084 (GRCm39)		probably null	Het
Col15a1	G	A	4: 47,269,088 (GRCm39)	G582D	probably benign	Het
Cwc25	A	G	11: 97,648,585 (GRCm39)	V81A	possibly damaging	Het
Ddhd1	A	G	14: 45,894,688 (GRCm39)	Y261H	probably damaging	Het
Defa29	A	G	8: 21,816,818 (GRCm39)		probably null	Het
Diaph3	A	C	14: 87,202,893 (GRCm39)	C666G	probably benign	Het
Dlx2	A	G	2: 71,375,019 (GRCm39)	Y282H	probably damaging	Het
Dsc3	A	T	18: 20,113,814 (GRCm39)	Y369*	probably null	Het
Dtwd1	A	G	2: 126,000,424 (GRCm39)	N120S	probably benign	Het
Dysf	G	A	6: 84,169,992 (GRCm39)	S1761N	probably damaging	Het
Enthd1	A	T	15: 80,444,416 (GRCm39)	N46K	probably damaging	Het
Epha7	T	A	4: 28,813,418 (GRCm39)	I12N	probably benign	Het
Fam171a2	T	A	11: 102,328,900 (GRCm39)	N620Y	probably damaging	Het
Garin4	T	C	1: 190,896,308 (GRCm39)	S112G	unknown	Het
Gfpt2	A	T	11: 49,714,078 (GRCm39)	E278D	possibly damaging	Het
Gm3285	A	G	10: 77,698,244 (GRCm39)	Q131R	unknown	Het
Gpcpd1	A	C	2: 132,410,619 (GRCm39)	C23G	probably damaging	Het
Gtpbp4	A	T	13: 9,037,954 (GRCm39)	H228Q	probably benign	Het
Hdac7	A	G	15: 97,704,415 (GRCm39)	V500A	probably benign	Het
Hykk	T	G	9: 54,828,010 (GRCm39)	M83R	possibly damaging	Het
Idi1	A	G	13: 8,936,931 (GRCm39)	I101V	probably benign	Het
Irs2	A	T	8: 11,057,018 (GRCm39)	H471Q	possibly damaging	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Jak2	A	G	19: 29,288,385 (GRCm39)	I1079V	possibly damaging	Het
Kcnt2	G	A	1: 140,282,255 (GRCm39)	R80H	possibly damaging	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lgr5	A	T	10: 115,423,370 (GRCm39)	L10Q	possibly damaging	Het
Lnx1	G	T	5: 74,838,175 (GRCm39)	S29*	probably null	Het
Lpcat3	T	A	6: 124,675,050 (GRCm39)	F57I	probably benign	Het
Manf	T	C	9: 106,769,088 (GRCm39)	T4A	probably benign	Het
Map2k3	G	A	11: 60,836,393 (GRCm39)		probably null	Het
Myh14	G	A	7: 44,273,761 (GRCm39)	Q1329*	probably null	Het
Myocd	T	C	11: 65,078,422 (GRCm39)	S458G	probably damaging	Het
Ncor2	T	C	5: 125,187,143 (GRCm39)		probably null	Het
Ndufs8	A	T	19: 3,961,606 (GRCm39)	N23K	probably benign	Het
Nkx6-1	T	C	5: 101,812,006 (GRCm39)	K32R	unknown	Het
Nlrp3	T	G	11: 59,439,272 (GRCm39)	V283G	possibly damaging	Het
Nme3	A	G	17: 25,116,037 (GRCm39)		probably null	Het
Or1o3	A	G	17: 37,574,076 (GRCm39)	F160L	probably benign	Het
Or8g23	C	T	9: 38,971,504 (GRCm39)	V153M	possibly damaging	Het
Parvg	T	C	15: 84,215,297 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,756,591 (GRCm39)	M389K	unknown	Het
Phf23	G	T	11: 69,890,091 (GRCm39)	C340F	possibly damaging	Het
Piwil2	A	G	14: 70,611,860 (GRCm39)	Y929H	probably damaging	Het
Prss39	A	G	1: 34,539,369 (GRCm39)	D203G	probably damaging	Het
Prss54	G	T	8: 96,286,367 (GRCm39)	D235E	probably benign	Het
Prtg	T	A	9: 72,815,117 (GRCm39)	M1015K	possibly damaging	Het
Rbbp8	T	C	18: 11,838,799 (GRCm39)	I160T	probably damaging	Het
Rxylt1	A	T	10: 121,924,822 (GRCm39)	D293E	probably benign	Het
Scn10a	C	A	9: 119,438,790 (GRCm39)	C1692F	probably damaging	Het
Scn11a	C	T	9: 119,648,899 (GRCm39)	D55N	probably damaging	Het
Secisbp2	G	T	13: 51,836,498 (GRCm39)	V768F	probably damaging	Het
Skic3	A	G	13: 76,261,698 (GRCm39)	T138A	probably benign	Het
Spag16	T	C	1: 70,338,780 (GRCm39)	I426T	possibly damaging	Het
Sspo	G	A	6: 48,427,011 (GRCm39)	V250M	possibly damaging	Het
Strbp	A	T	2: 37,531,149 (GRCm39)		probably null	Het
Sv2c	C	T	13: 96,224,809 (GRCm39)	V167M	probably damaging	Het
Tdpoz1	G	A	3: 93,577,794 (GRCm39)	S330L	not run	Het
Tigd2	T	A	6: 59,188,052 (GRCm39)	D306E	probably benign	Het
Trrap	C	T	5: 144,782,287 (GRCm39)	P3278S	possibly damaging	Het
Vdac1	A	T	11: 52,265,761 (GRCm39)	K28N	probably damaging	Het
Vmn1r84	A	T	7: 12,096,069 (GRCm39)	M208K	probably damaging	Het
Vmn2r77	A	T	7: 86,460,518 (GRCm39)	K615*	probably null	Het
Vps11	A	G	9: 44,265,800 (GRCm39)	L493P	probably damaging	Het
Zbtb21	T	C	16: 97,754,179 (GRCm39)	I35V	possibly damaging	Het
Zbtb26	A	T	2: 37,326,667 (GRCm39)	M123K	possibly damaging	Het
Zfp236	A	T	18: 82,627,470 (GRCm39)	D1576E	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
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
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'- TACATCCAAGCCCTTTTCAATCTTTA -3'
(R):5'- ATTGGGCATCTGAGGGTTTCA -3'

Sequencing Primer
(F):5'- AAGGTCTCTCGAAAGTTTCCCAGG -3'
(R):5'- CAGGATTCCCTTTGGATAGATACC -3'

Posted On

2019-06-26