Mutagenetix > Incidental Mutation

Incidental Mutation 'R1460:Ass1'

162025

Institutional Source

Beutler Lab

Gene Symbol

Ass1

Ensembl Gene

ENSMUSG00000076441

Gene Name

argininosuccinate synthetase 1

Synonyms

ASS, fold, Ass-1

MMRRC Submission

039515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1460 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31360282-31410682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31404753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 345 (V345I)

Ref Sequence

ENSEMBL: ENSMUSP00000099904 (fasta)

Gene Model

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

AlphaFold

P16460

Predicted Effect

probably benign
Transcript: ENSMUST00000102840
AA Change: V345I

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: V345I

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.1%

Validation Efficiency

94% (93/99)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	T	4: 109,388,407 (GRCm39)		probably null	Het
Abcb11	A	G	2: 69,087,718 (GRCm39)		probably benign	Het
Abi3bp	T	C	16: 56,382,780 (GRCm39)	V130A	probably damaging	Het
Adamts4	A	G	1: 171,084,009 (GRCm39)		probably benign	Het
Adgrd1	A	G	5: 129,199,627 (GRCm39)	T155A	possibly damaging	Het
Ano3	A	T	2: 110,513,103 (GRCm39)	S631T	probably damaging	Het
Atg7	G	A	6: 114,680,325 (GRCm39)	A384T	probably damaging	Het
Atp6v0a1	T	A	11: 100,924,824 (GRCm39)	I303N	probably damaging	Het
B3gntl1	T	G	11: 121,530,624 (GRCm39)	Y149S	probably damaging	Het
Btnl2	A	G	17: 34,585,424 (GRCm39)	D475G	probably benign	Het
Cdcp1	A	T	9: 123,009,092 (GRCm39)	S529T	possibly damaging	Het
Cenpt	A	G	8: 106,575,520 (GRCm39)	L194P	probably damaging	Het
Cfhr4	T	A	1: 139,625,934 (GRCm39)	I788F	probably damaging	Het
Chmp4b	A	G	2: 154,534,515 (GRCm39)	D177G	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cish	G	T	9: 107,177,596 (GRCm39)	E91*	probably null	Het
Col22a1	T	C	15: 71,693,780 (GRCm39)	D740G	unknown	Het
Cplane2	T	C	4: 140,945,523 (GRCm39)	F125L	probably damaging	Het
Crocc	G	A	4: 140,756,551 (GRCm39)	Q1025*	probably null	Het
Ctrc	C	A	4: 141,566,120 (GRCm39)		probably benign	Het
Cyb5r2	T	A	7: 107,356,450 (GRCm39)	D7V	probably benign	Het
Dhx29	T	C	13: 113,101,744 (GRCm39)		probably benign	Het
Dhx9	A	C	1: 153,341,426 (GRCm39)	D607E	probably benign	Het
Dnajb7	C	T	15: 81,291,888 (GRCm39)	G150R	probably benign	Het
Dnase1l3	T	A	14: 7,974,050 (GRCm38)	T214S	probably benign	Het
Dpm1	A	T	2: 168,052,549 (GRCm39)	I229N	probably damaging	Het
Dstn	T	C	2: 143,780,408 (GRCm39)	V36A	possibly damaging	Het
Entpd1	T	C	19: 40,714,632 (GRCm39)	V247A	probably damaging	Het
Ephb3	C	A	16: 21,037,672 (GRCm39)	H277Q	probably benign	Het
Etl4	A	T	2: 20,793,288 (GRCm39)	N671I	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fancd2os	G	A	6: 113,574,973 (GRCm39)	T11I	probably damaging	Het
Fcrlb	G	T	1: 170,739,853 (GRCm39)		probably benign	Het
Fhip1a	T	C	3: 85,638,183 (GRCm39)	I39V	probably damaging	Het
Gm9991	T	C	1: 90,606,780 (GRCm39)		noncoding transcript	Het
Gstk1	C	T	6: 42,223,529 (GRCm39)	R40W	probably damaging	Het
Gstt1	C	T	10: 75,620,004 (GRCm39)	V190M	probably damaging	Het
Hectd2	G	A	19: 36,592,908 (GRCm39)	W691*	probably null	Het
Hecw2	T	C	1: 53,852,404 (GRCm39)	T1572A	probably damaging	Het
Hoxa5	T	C	6: 52,180,928 (GRCm39)	T135A	probably benign	Het
Igfl3	T	A	7: 17,913,880 (GRCm39)	C77S	possibly damaging	Het
Itgb4	A	G	11: 115,874,990 (GRCm39)	D449G	probably damaging	Het
Larp1b	T	C	3: 40,916,653 (GRCm39)	V11A	probably benign	Het
Lhx9	A	G	1: 138,766,447 (GRCm39)		probably benign	Het
Lig3	G	T	11: 82,686,624 (GRCm39)		probably benign	Het
Lipo4	A	C	19: 33,476,718 (GRCm39)	F343L	probably benign	Het
Lyn	T	A	4: 3,789,908 (GRCm39)	Y480*	probably null	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mill1	C	A	7: 17,996,595 (GRCm39)	A137D	probably damaging	Het
Mmut	T	C	17: 41,248,266 (GRCm39)	Y98H	probably damaging	Het
Morc2a	A	T	11: 3,633,794 (GRCm39)	R635S	probably benign	Het
Mpped2	A	G	2: 106,575,237 (GRCm39)		probably benign	Het
Mug2	T	C	6: 122,017,492 (GRCm39)		probably benign	Het
Mynn	C	A	3: 30,657,853 (GRCm39)	S57Y	probably damaging	Het
Myo3b	G	A	2: 70,062,798 (GRCm39)	E333K	probably benign	Het
Myt1	A	T	2: 181,444,725 (GRCm39)	I514F	probably damaging	Het
Nlrp4f	A	G	13: 65,338,082 (GRCm39)	C708R	probably benign	Het
Nod2	A	G	8: 89,390,440 (GRCm39)	E249G	probably damaging	Het
Npy2r	T	C	3: 82,448,251 (GRCm39)	I175V	probably benign	Het
Obscn	A	T	11: 58,946,792 (GRCm39)	V4114D	probably damaging	Het
Or1l8	A	T	2: 36,817,820 (GRCm39)	M102K	probably damaging	Het
Or2y12	T	A	11: 49,426,504 (GRCm39)	M164K	possibly damaging	Het
Or4a76	A	G	2: 89,460,282 (GRCm39)		probably null	Het
Or52e7	T	A	7: 104,684,915 (GRCm39)	I170N	possibly damaging	Het
Or8g33	A	G	9: 39,337,503 (GRCm39)	M288T	probably benign	Het
Pbxip1	T	A	3: 89,352,921 (GRCm39)	I196N	probably damaging	Het
Piezo1	G	A	8: 123,228,890 (GRCm39)	T209M	possibly damaging	Het
Polr1a	T	C	6: 71,918,368 (GRCm39)	M642T	probably damaging	Het
Prdm4	T	C	10: 85,743,686 (GRCm39)	M190V	probably benign	Het
Psmd7	G	A	8: 108,307,691 (GRCm39)	S264L	possibly damaging	Het
Qrich1	T	G	9: 108,410,846 (GRCm39)		probably benign	Het
Rapgef4	G	T	2: 71,861,520 (GRCm39)		probably null	Het
Rfx5	T	C	3: 94,863,636 (GRCm39)	I95T	probably damaging	Het
Rgr	G	A	14: 36,767,683 (GRCm39)	R113C	probably damaging	Het
Rnf20	T	C	4: 49,645,873 (GRCm39)		probably benign	Het
Rps3a1	G	A	3: 86,045,369 (GRCm39)	A241V	probably benign	Het
Rttn	A	T	18: 89,127,481 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,532,187 (GRCm39)	T600A	probably damaging	Het
Scyl2	T	C	10: 89,493,751 (GRCm39)	D339G	possibly damaging	Het
Sipa1	T	A	19: 5,701,475 (GRCm39)	H1029L	probably benign	Het
Slc49a4	T	C	16: 35,539,736 (GRCm39)	T362A	probably benign	Het
Snrnp48	A	G	13: 38,395,081 (GRCm39)	T124A	probably benign	Het
Sptbn1	A	T	11: 30,088,637 (GRCm39)	M875K	possibly damaging	Het
Supt6	A	G	11: 78,113,024 (GRCm39)	V973A	possibly damaging	Het
Supv3l1	T	C	10: 62,279,162 (GRCm39)		probably benign	Het
Svep1	G	T	4: 58,068,740 (GRCm39)	N3015K	possibly damaging	Het
Tgfb3	A	G	12: 86,105,841 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,628,771 (GRCm39)		noncoding transcript	Het
Trim24	T	A	6: 37,941,761 (GRCm39)	F904I	probably damaging	Het
Trim30d	T	A	7: 104,121,311 (GRCm39)	Y328F	probably benign	Het
Ttn	T	C	2: 76,698,717 (GRCm39)	E6G	probably damaging	Het
Ube2m	T	C	7: 12,769,762 (GRCm39)		probably benign	Het
Vmn2r-ps158	A	T	7: 42,672,639 (GRCm39)	R91S	probably benign	Het
Wdr90	A	T	17: 26,079,422 (GRCm39)	S237R	possibly damaging	Het
Zfp735	A	T	11: 73,603,159 (GRCm39)	H701L	possibly damaging	Het
Zp1	T	C	19: 10,896,242 (GRCm39)	D161G	probably benign	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
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'- AGTAAGGCAGAACCGAGCCTATCAG -3'
(R):5'- GCGCCACAGCCTAACTTTTATACCC -3'

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

Posted On

2014-03-14