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-1, ASS, fold

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

31470207-31520672 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31514819 bp (GRCm38)

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: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Ak9	T	C	10: 41,345,139	Y322H	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Cfh	T	C	1: 140,102,358	S926G	probably damaging	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Chsy3	A	G	18: 59,409,053	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,495,792		probably benign	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Icam5	T	C	9: 21,032,197	I23T	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470		probably null	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P3h3	T	A	6: 124,856,035	H185L	probably damaging	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Scrib	T	C	15: 76,067,553	I94V	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tle6	T	A	10: 81,594,346	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	probably null	Het

Other mutations in Ass1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Ass1	APN	2	31476922	missense	probably damaging	1.00
IGL02152:Ass1	APN	2	31492324	missense	probably damaging	1.00
R0008:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0083:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0084:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0085:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0087:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0183:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0220:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0254:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0302:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0346:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0440:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0472:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R0644:Ass1	UTSW	2	31514819	missense	probably damaging	1.00
R1460:Ass1	UTSW	2	31514741	missense	probably benign	0.37
R1465:Ass1	UTSW	2	31520416	makesense	probably null
R1465:Ass1	UTSW	2	31520416	makesense	probably null
R1770:Ass1	UTSW	2	31486516	missense	probably benign	0.29
R1908:Ass1	UTSW	2	31493148	nonsense	probably null
R2361:Ass1	UTSW	2	31520382	missense	probably benign	0.02
R2430:Ass1	UTSW	2	31501496	missense	probably damaging	1.00
R3816:Ass1	UTSW	2	31510105	splice site	probably benign
R4614:Ass1	UTSW	2	31514783	missense	probably damaging	1.00
R4628:Ass1	UTSW	2	31480988	missense	probably damaging	1.00
R5007:Ass1	UTSW	2	31501532	missense	possibly damaging	0.90
R5069:Ass1	UTSW	2	31510173	missense	probably damaging	1.00
R5081:Ass1	UTSW	2	31488653	critical splice donor site	probably null
R5315:Ass1	UTSW	2	31492329	missense	probably benign	0.21
R5370:Ass1	UTSW	2	31518733	missense	possibly damaging	0.56
R6259:Ass1	UTSW	2	31488642	missense	possibly damaging	0.80
R6541:Ass1	UTSW	2	31510233	missense	probably damaging	0.99
R6731:Ass1	UTSW	2	31514784	missense	probably damaging	1.00
R6927:Ass1	UTSW	2	31514801	missense	probably damaging	1.00
R7811:Ass1	UTSW	2	31514741	missense	probably benign	0.37
R7995:Ass1	UTSW	2	31486540	missense	probably benign	0.00
R8504:Ass1	UTSW	2	31501532	missense	possibly damaging	0.90
R8816:Ass1	UTSW	2	31493177	critical splice donor site	probably benign
R8865:Ass1	UTSW	2	31520395	missense	probably benign	0.00
R8930:Ass1	UTSW	2	31492375	missense	probably damaging	1.00
R8932:Ass1	UTSW	2	31492375	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