Mutagenetix > Incidental Mutation

Incidental Mutation 'R7995:Ass1'

616006

Institutional Source

Beutler Lab

Gene Symbol

Ass1

Ensembl Gene

ENSMUSG00000076441

Gene Name

argininosuccinate synthetase 1

Synonyms

ASS, fold, Ass-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31360282-31410682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31376552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 139 (I139V)

Ref Sequence

ENSEMBL: ENSMUSP00000099904 (fasta)

Gene Model

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

AlphaFold

P16460

Predicted Effect

probably benign
Transcript: ENSMUST00000102840
AA Change: I139V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: I139V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,528 (GRCm39)	T137S	unknown	Het
Apbb1	T	C	7: 105,214,852 (GRCm39)	D462G	probably benign	Het
Arhgef1	T	G	7: 24,618,641 (GRCm39)	L387R	probably damaging	Het
B4galt5	A	G	2: 167,143,296 (GRCm39)	V376A	probably damaging	Het
Bdkrb1	A	G	12: 105,571,379 (GRCm39)	N315S	probably damaging	Het
Brap	A	T	5: 121,820,909 (GRCm39)	I429L	probably benign	Het
Capn2	A	G	1: 182,306,111 (GRCm39)		probably null	Het
Car10	A	G	11: 93,487,948 (GRCm39)	Y215C	probably damaging	Het
Ccdc102a	T	C	8: 95,634,495 (GRCm39)	T365A	probably damaging	Het
Cdc42ep1	A	G	15: 78,731,696 (GRCm39)	H47R	probably damaging	Het
Celsr3	G	A	9: 108,722,282 (GRCm39)	S2734N	probably damaging	Het
Cers5	A	C	15: 99,638,823 (GRCm39)		probably null	Het
Cfap43	T	C	19: 47,886,462 (GRCm39)	E51G	probably damaging	Het
Cftr	T	A	6: 18,214,155 (GRCm39)	D110E	probably damaging	Het
Cimap2	T	A	4: 106,473,112 (GRCm39)	H57L	probably benign	Het
Cntnap5a	A	G	1: 116,499,277 (GRCm39)	K1176E	probably damaging	Het
Dlx6	A	T	6: 6,867,277 (GRCm39)	R293S	probably damaging	Het
Dnah2	A	T	11: 69,411,563 (GRCm39)	F353Y	possibly damaging	Het
Dnajc13	A	T	9: 104,051,562 (GRCm39)	I1765N	probably damaging	Het
Ercc6	G	T	14: 32,284,526 (GRCm39)	R763L	probably damaging	Het
Furin	T	C	7: 80,045,195 (GRCm39)	N243S	probably damaging	Het
Hace1	A	G	10: 45,465,588 (GRCm39)	E48G	probably damaging	Het
Kcnv1	G	A	15: 44,972,743 (GRCm39)	T380I	probably damaging	Het
Klk4	T	A	7: 43,533,010 (GRCm39)	I32N	probably damaging	Het
Lingo2	T	C	4: 35,709,425 (GRCm39)	E185G	probably damaging	Het
Lrba	T	A	3: 86,526,858 (GRCm39)	W2239R	probably damaging	Het
Mical2	T	A	7: 111,980,975 (GRCm39)	D316E	probably benign	Het
Mlh1	G	T	9: 111,064,989 (GRCm39)	N555K	probably damaging	Het
Mroh2b	G	A	15: 4,950,839 (GRCm39)	W579*	probably null	Het
Mycs	G	A	X: 5,380,858 (GRCm39)	P74L	probably damaging	Het
Or5p62	A	T	7: 107,771,207 (GRCm39)	L248H	probably damaging	Het
Or6c1	T	C	10: 129,518,509 (GRCm39)	Y33C	probably damaging	Het
Pak2	T	C	16: 31,846,590 (GRCm39)	I365V	possibly damaging	Het
Pcdhga11	C	A	18: 37,890,078 (GRCm39)	S362*	probably null	Het
Pdk4	C	T	6: 5,487,093 (GRCm39)	V318M	probably benign	Het
Phc2	C	T	4: 128,603,401 (GRCm39)	T177M	probably damaging	Het
Phldb1	A	T	9: 44,626,669 (GRCm39)	L592Q	probably damaging	Het
Pigr	A	G	1: 130,769,423 (GRCm39)	Y78C	probably damaging	Het
Pnkp	T	A	7: 44,507,960 (GRCm39)	Y94*	probably null	Het
Polr2b	T	C	5: 77,473,614 (GRCm39)	V310A	possibly damaging	Het
Pramel21	A	G	4: 143,342,570 (GRCm39)	I226V	possibly damaging	Het
Prl7d1	T	A	13: 27,894,054 (GRCm39)	I171L	probably benign	Het
Rpusd4	A	G	9: 35,184,017 (GRCm39)	Y224C	probably damaging	Het
Scara5	C	A	14: 65,997,057 (GRCm39)	R390S	possibly damaging	Het
Scin	C	T	12: 40,129,804 (GRCm39)	V330I	probably benign	Het
Sdr42e1	T	A	8: 118,390,007 (GRCm39)	R211S	probably benign	Het
Slc36a3	C	A	11: 55,020,495 (GRCm39)	A292S	probably benign	Het
Spata31d1a	T	C	13: 59,848,924 (GRCm39)	D1068G	probably benign	Het
Srd5a1	T	A	13: 69,759,338 (GRCm39)	D10V	probably damaging	Het
Sspo	G	T	6: 48,469,823 (GRCm39)	C4507F	probably damaging	Het
Tmem94	G	A	11: 115,688,797 (GRCm39)	E1335K	probably damaging	Het
Tnfrsf13b	C	T	11: 61,031,742 (GRCm39)	Q28*	probably null	Het
Tspan3	A	T	9: 56,054,438 (GRCm39)	F88I	probably benign	Het
Ttn	T	C	2: 76,592,519 (GRCm39)	K20871R	probably benign	Het
Ube2j2	C	A	4: 156,041,795 (GRCm39)	Y263*	probably null	Het
Vcan	T	C	13: 89,839,977 (GRCm39)	T1856A	probably benign	Het
Vrk3	T	C	7: 44,413,585 (GRCm39)	L218P	probably damaging	Het
Zfp236	G	T	18: 82,657,461 (GRCm39)	H761N	probably damaging	Het
Zfp462	C	A	4: 55,011,907 (GRCm39)	A1291E	probably damaging	Het
Zfp827	T	A	8: 79,844,887 (GRCm39)	S686T	possibly damaging	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
R0605: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
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'- AAGCTCTGATCTGGGATGCC -3'
(R):5'- TGACCTTCAGAGAAACTGCC -3'

Sequencing Primer
(F):5'- TCCCAGGGAGCAGTATCTG -3'
(R):5'- TGCCACCACCAGTCTACTG -3'

Posted On

2020-01-23