Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Ass1'

55625

Institutional Source

Beutler Lab

Gene Symbol

Ass1

Ensembl Gene

ENSMUSG00000076441

Gene Name

argininosuccinate synthetase 1

Synonyms

ASS, fold, Ass-1

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0605 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

31360282-31410682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31404831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 371 (N371Y)

Ref Sequence

ENSEMBL: ENSMUSP00000099904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102840]

AlphaFold

P16460

Predicted Effect

probably damaging
Transcript: ENSMUST00000102840
AA Change: N371Y

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

SMART Domains

Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: N371Y

Domain	Start	End	E-Value	Type
Pfam:QueC	6	93	2.8e-7	PFAM
Pfam:Arginosuc_synth	8	403	1.9e-177	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192802

Meta Mutation Damage Score

0.9349

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,186,973 (GRCm39)		probably benign	Het
Adam28	A	T	14: 68,844,049 (GRCm39)		probably benign	Het
Adamts3	A	G	5: 90,009,334 (GRCm39)	W110R	possibly damaging	Het
Add1	T	C	5: 34,771,568 (GRCm39)	V342A	possibly damaging	Het
Aff3	A	G	1: 38,249,068 (GRCm39)	S680P	probably damaging	Het
Ak9	T	C	10: 41,221,135 (GRCm39)	Y322H	probably damaging	Het
Als2	A	G	1: 59,207,573 (GRCm39)	L1528S	probably benign	Het
Atp6v1a	A	C	16: 43,931,859 (GRCm39)		probably null	Het
Bpi	T	C	2: 158,103,314 (GRCm39)	L103P	probably damaging	Het
Cd80	G	A	16: 38,303,056 (GRCm39)	V168I	probably benign	Het
Cfh	T	C	1: 140,030,096 (GRCm39)	S926G	probably damaging	Het
Chrd	A	T	16: 20,554,189 (GRCm39)	T304S	probably damaging	Het
Chsy3	A	G	18: 59,542,125 (GRCm39)	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,455 (GRCm39)	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,371,543 (GRCm39)		probably benign	Het
Coq4	C	T	2: 29,680,010 (GRCm39)	Q101*	probably null	Het
Cr2	T	C	1: 194,845,904 (GRCm39)		probably benign	Het
Cry1	T	C	10: 85,020,223 (GRCm39)	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,327,229 (GRCm39)	D758G	probably benign	Het
Epsti1	C	T	14: 78,164,677 (GRCm39)		probably benign	Het
Fam24b	T	C	7: 130,928,915 (GRCm39)		probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Foxred1	T	C	9: 35,116,178 (GRCm39)	Y490C	possibly damaging	Het
Gm9875	A	G	2: 13,562,699 (GRCm39)	K9R	unknown	Het
Grid2ip	T	C	5: 143,365,117 (GRCm39)	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,640,608 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,533,127 (GRCm39)		probably null	Het
Hpdl	C	T	4: 116,677,984 (GRCm39)	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 93,863,987 (GRCm39)	M285K	probably benign	Het
Icam5	T	C	9: 20,943,493 (GRCm39)	I23T	probably benign	Het
Kat5	A	G	19: 5,658,364 (GRCm39)		probably benign	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lamb2	T	C	9: 108,363,304 (GRCm39)		probably benign	Het
Lgals3bp	A	G	11: 118,284,220 (GRCm39)	F453S	probably damaging	Het
Lypd4	A	G	7: 24,564,800 (GRCm39)	Y113H	probably damaging	Het
Mdm1	C	T	10: 117,982,506 (GRCm39)	T47M	probably damaging	Het
Mei1	C	A	15: 81,954,351 (GRCm39)	T52K	probably benign	Het
Meiob	G	A	17: 25,037,236 (GRCm39)		probably benign	Het
Ndufaf6	A	G	4: 11,051,224 (GRCm39)	V292A	probably damaging	Het
Neb	T	A	2: 52,154,038 (GRCm39)	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,047,005 (GRCm39)	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,773,895 (GRCm39)		probably benign	Het
Or5ae2	T	C	7: 84,506,345 (GRCm39)	I256T	probably damaging	Het
Or8h7	T	C	2: 86,720,763 (GRCm39)	Y252C	possibly damaging	Het
Or9s14	G	T	1: 92,535,618 (GRCm39)	V20L	probably benign	Het
Osbpl1a	T	A	18: 13,015,336 (GRCm39)		probably null	Het
Otud7b	T	A	3: 96,052,270 (GRCm39)		probably benign	Het
P3h3	T	A	6: 124,832,998 (GRCm39)	H185L	probably damaging	Het
P4htm	G	A	9: 108,460,923 (GRCm39)	A183V	probably null	Het
Peak1	C	T	9: 56,134,382 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,466,971 (GRCm39)	K88R	probably damaging	Het
Phlpp2	A	G	8: 110,659,843 (GRCm39)	N721S	probably benign	Het
Plagl2	T	C	2: 153,077,864 (GRCm39)	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466 (GRCm39)	N252I	probably damaging	Het
Pom121l2	C	T	13: 22,166,206 (GRCm39)	A159V	probably damaging	Het
Prom2	C	A	2: 127,381,915 (GRCm39)		probably null	Het
Prrc2c	T	C	1: 162,509,995 (GRCm39)	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,029,563 (GRCm39)	A996S	probably damaging	Het
Rnf213	A	G	11: 119,322,543 (GRCm39)	T1387A	probably benign	Het
Scaper	A	T	9: 55,722,802 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,997,097 (GRCm39)	E403G	possibly damaging	Het
Scrib	T	C	15: 75,939,402 (GRCm39)	I94V	possibly damaging	Het
Shank3	T	C	15: 89,408,350 (GRCm39)	F67L	possibly damaging	Het
Shprh	T	C	10: 11,082,856 (GRCm39)	F1562L	probably damaging	Het
Src	C	T	2: 157,311,841 (GRCm39)	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,296,942 (GRCm39)	M341K	probably benign	Het
Syde1	T	C	10: 78,424,929 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,327,819 (GRCm39)	R509S	probably damaging	Het
Tle6	T	A	10: 81,430,180 (GRCm39)	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,179,912 (GRCm39)		probably benign	Het
Tnfrsf14	T	A	4: 155,009,837 (GRCm39)	K115*	probably null	Het
Trappc10	T	C	10: 78,037,331 (GRCm39)	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,561,790 (GRCm39)	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,790,908 (GRCm39)	I885V	possibly damaging	Het
Ttn	C	T	2: 76,570,797 (GRCm39)	A26699T	probably damaging	Het
Ttn	T	C	2: 76,778,715 (GRCm39)	Y1262C	unknown	Het
Usp49	T	C	17: 47,985,851 (GRCm39)		probably null	Het
Vmn1r226	A	T	17: 20,908,133 (GRCm39)	T122S	probably benign	Het
Vps8	A	T	16: 21,378,087 (GRCm39)	T1033S	probably benign	Het
Vwf	C	A	6: 125,662,800 (GRCm39)	T2728K	probably benign	Het
Wdr5b	T	C	16: 35,862,366 (GRCm39)	S162P	probably benign	Het
Xrn1	C	T	9: 95,908,930 (GRCm39)	Q1235*	probably null	Het
Zfp1005	A	G	2: 150,110,523 (GRCm39)	I404M	unknown	Het

Other mutations in Ass1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Ass1	APN	2	31,366,934 (GRCm39)	missense	probably damaging	1.00
IGL02152:Ass1	APN	2	31,382,336 (GRCm39)	missense	probably damaging	1.00
R0008:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0083:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0084:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0085:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0087:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0183:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0220:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0254:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0302:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0346:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0440:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0472:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0644:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R1460:Ass1	UTSW	2	31,404,753 (GRCm39)	missense	probably benign	0.37
R1465:Ass1	UTSW	2	31,410,428 (GRCm39)	makesense	probably null
R1465:Ass1	UTSW	2	31,410,428 (GRCm39)	makesense	probably null
R1770:Ass1	UTSW	2	31,376,528 (GRCm39)	missense	probably benign	0.29
R1908:Ass1	UTSW	2	31,383,160 (GRCm39)	nonsense	probably null
R2361:Ass1	UTSW	2	31,410,394 (GRCm39)	missense	probably benign	0.02
R2430:Ass1	UTSW	2	31,391,508 (GRCm39)	missense	probably damaging	1.00
R3816:Ass1	UTSW	2	31,400,117 (GRCm39)	splice site	probably benign
R4614:Ass1	UTSW	2	31,404,795 (GRCm39)	missense	probably damaging	1.00
R4628:Ass1	UTSW	2	31,371,000 (GRCm39)	missense	probably damaging	1.00
R5007:Ass1	UTSW	2	31,391,544 (GRCm39)	missense	possibly damaging	0.90
R5069:Ass1	UTSW	2	31,400,185 (GRCm39)	missense	probably damaging	1.00
R5081:Ass1	UTSW	2	31,378,665 (GRCm39)	critical splice donor site	probably null
R5315:Ass1	UTSW	2	31,382,341 (GRCm39)	missense	probably benign	0.21
R5370:Ass1	UTSW	2	31,408,745 (GRCm39)	missense	possibly damaging	0.56
R6259:Ass1	UTSW	2	31,378,654 (GRCm39)	missense	possibly damaging	0.80
R6541:Ass1	UTSW	2	31,400,245 (GRCm39)	missense	probably damaging	0.99
R6731:Ass1	UTSW	2	31,404,796 (GRCm39)	missense	probably damaging	1.00
R6927:Ass1	UTSW	2	31,404,813 (GRCm39)	missense	probably damaging	1.00
R7811:Ass1	UTSW	2	31,404,753 (GRCm39)	missense	probably benign	0.37
R7995:Ass1	UTSW	2	31,376,552 (GRCm39)	missense	probably benign	0.00
R8504:Ass1	UTSW	2	31,391,544 (GRCm39)	missense	possibly damaging	0.90
R8816:Ass1	UTSW	2	31,383,189 (GRCm39)	critical splice donor site	probably benign
R8865:Ass1	UTSW	2	31,410,407 (GRCm39)	missense	probably benign	0.00
R8930:Ass1	UTSW	2	31,382,387 (GRCm39)	missense	probably damaging	1.00
R8932:Ass1	UTSW	2	31,382,387 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGTAAGGCAGAACCGAGCCTATC -3'
(R):5'- GCGCCACAGCCTAACTTTTATACCC -3'

Sequencing Primer
(F):5'- CCGAGCCTATCAGAAGGTAAG -3'
(R):5'- attactttgcatcagaaaatgacac -3'

Posted On

2013-07-11