Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01413:Ass1'

80155

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01413

Quality Score

Status

Chromosome

Chromosomal Location

31360282-31410682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31366934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 11 (Y11C)

Ref Sequence

ENSEMBL: ENSMUSP00000099904 (fasta)

Gene Model

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

AlphaFold

P16460

Predicted Effect

probably damaging
Transcript: ENSMUST00000102840
AA Change: Y11C

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

SMART Domains

Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: Y11C

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

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	T	18: 74,939,015 (GRCm39)		probably benign	Het
Adgrl1	T	A	8: 84,656,486 (GRCm39)	I268N	probably damaging	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Cd44	T	C	2: 102,644,632 (GRCm39)	E448G	probably damaging	Het
Cdca2	A	G	14: 67,915,343 (GRCm39)	S639P	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Col4a4	C	T	1: 82,448,969 (GRCm39)	G1207E	unknown	Het
Cracdl	G	A	1: 37,651,387 (GRCm39)	A1160V	possibly damaging	Het
Cthrc1	T	A	15: 38,943,894 (GRCm39)	L58Q	possibly damaging	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dlgap1	C	A	17: 70,823,069 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,323,790 (GRCm39)	L3707F	probably damaging	Het
Dnai7	A	T	6: 145,120,812 (GRCm39)	M669K	probably damaging	Het
Duox1	A	G	2: 122,151,191 (GRCm39)	N289D	probably benign	Het
Fbrsl1	T	A	5: 110,526,114 (GRCm39)	E443D	probably damaging	Het
Fgfr1	T	A	8: 26,052,239 (GRCm39)	C288*	probably null	Het
Gabbr1	A	G	17: 37,373,598 (GRCm39)	N498S	possibly damaging	Het
Gja10	T	C	4: 32,602,070 (GRCm39)	K105E	probably damaging	Het
Glra4	C	T	X: 135,663,493 (GRCm39)	R352H	probably benign	Het
Gm19402	G	T	10: 77,526,323 (GRCm39)		probably benign	Het
Hadha	T	A	5: 30,346,025 (GRCm39)	M200L	probably benign	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Huwe1	A	T	X: 150,665,676 (GRCm39)	Q1231L	possibly damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Il1rl1	A	T	1: 40,485,329 (GRCm39)	K260N	possibly damaging	Het
Lhx6	C	A	2: 35,993,528 (GRCm39)	A57S	probably benign	Het
Mdh2	T	A	5: 135,814,879 (GRCm39)	I116N	probably damaging	Het
Met	T	C	6: 17,558,895 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,638,211 (GRCm39)	D387G	probably damaging	Het
Myo3a	T	C	2: 22,302,411 (GRCm39)	S287P	probably benign	Het
Nol8	T	G	13: 49,813,428 (GRCm39)	N140K	possibly damaging	Het
Nrap	C	A	19: 56,377,823 (GRCm39)	A56S	probably damaging	Het
Nuggc	A	G	14: 65,876,030 (GRCm39)	T548A	probably benign	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or2i1	A	T	17: 37,508,554 (GRCm39)	F102I	possibly damaging	Het
Pcdh11x	A	G	X: 119,309,282 (GRCm39)	T242A	probably benign	Het
Pcdhb8	A	G	18: 37,489,029 (GRCm39)	N236D	probably damaging	Het
Pdzph1	T	C	17: 59,186,147 (GRCm39)	I1215V	possibly damaging	Het
Plekha8	C	T	6: 54,599,261 (GRCm39)	T265I	probably benign	Het
Pou4f2	T	A	8: 79,161,734 (GRCm39)	I290F	probably damaging	Het
Pramel22	A	T	4: 143,381,887 (GRCm39)	F270I	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rab28	A	T	5: 41,855,790 (GRCm39)	D68E	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Samd4	A	G	14: 47,254,249 (GRCm39)	T137A	probably benign	Het
Serpinb1b	T	G	13: 33,277,842 (GRCm39)	D358E	probably damaging	Het
Serpinb9c	G	A	13: 33,335,787 (GRCm39)	L222F	probably damaging	Het
Slc24a3	A	G	2: 145,482,169 (GRCm39)	D609G	probably damaging	Het
Slc25a40	A	C	5: 8,503,298 (GRCm39)	*338Y	probably null	Het
Spef2	T	A	15: 9,676,376 (GRCm39)	I732L	probably benign	Het
Srrm2	T	C	17: 24,034,999 (GRCm39)		probably benign	Het
Ssxb13	A	G	X: 8,615,692 (GRCm39)	E75G	probably benign	Het
Stmnd1	A	T	13: 46,453,157 (GRCm39)	I278L	probably benign	Het
Strap	C	A	6: 137,722,502 (GRCm39)		probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tcf4	A	C	18: 69,788,090 (GRCm39)	E160D	probably damaging	Het
Themis3	A	G	17: 66,863,092 (GRCm39)	Y289H	probably benign	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trappc10	A	G	10: 78,033,678 (GRCm39)	V963A	possibly damaging	Het
Trav19	G	T	14: 54,083,072 (GRCm39)	C49F	probably damaging	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333 (GRCm39)	R414S	probably benign	Het
Usp9x	A	G	X: 13,017,579 (GRCm39)	S1696G	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Vmn1r185	A	T	7: 26,311,046 (GRCm39)	V153E	probably damaging	Het
Vmn2r124	A	G	17: 18,282,827 (GRCm39)	T174A	probably benign	Het
Wdr59	T	A	8: 112,227,706 (GRCm39)	S124C	probably benign	Het
Xirp2	A	T	2: 67,340,270 (GRCm39)	D837V	probably damaging	Het
Zfp185	A	G	X: 72,061,997 (GRCm39)	D403G	possibly damaging	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	Het

Other mutations in Ass1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-05