Mutagenetix > Incidental Mutation

Incidental Mutation 'R5007:Ass1'

390188

Institutional Source

Beutler Lab

Gene Symbol

Ass1

Ensembl Gene

ENSMUSG00000076441

Gene Name

argininosuccinate synthetase 1

Synonyms

ASS, fold, Ass-1

MMRRC Submission

042598-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5007 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

31360282-31410682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31391544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 273 (F273S)

Ref Sequence

ENSEMBL: ENSMUSP00000099904 (fasta)

Gene Model

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

AlphaFold

P16460

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102840
AA Change: F273S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: F273S

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: ENSMUST00000192802

Meta Mutation Damage Score

0.8536

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.6%

Validation Efficiency

99% (89/90)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
Abca8b	T	C	11: 109,827,590 (GRCm39)	T1473A	probably damaging	Het
Adam22	T	C	5: 8,217,393 (GRCm39)	Y134C	probably damaging	Het
Alg9	T	A	9: 50,699,524 (GRCm39)	M183K	probably damaging	Het
Ambra1	T	C	2: 91,602,655 (GRCm39)	I213T	possibly damaging	Het
Ankrd55	T	A	13: 112,504,466 (GRCm39)	V376D	probably benign	Het
Ano4	A	C	10: 88,948,807 (GRCm39)	V166G	probably benign	Het
Aox3	T	A	1: 58,202,583 (GRCm39)	C730S	probably benign	Het
Apc	T	A	18: 34,446,016 (GRCm39)	Y953N	probably damaging	Het
Atg2b	T	C	12: 105,610,135 (GRCm39)		probably null	Het
B3gnt9	A	G	8: 105,981,122 (GRCm39)	Y89H	probably damaging	Het
Cd38	T	G	5: 44,063,506 (GRCm39)	F200V	probably damaging	Het
Cep170	G	T	1: 176,597,380 (GRCm39)	R388S	probably benign	Het
Col22a1	A	T	15: 71,816,271 (GRCm39)	D614E	probably damaging	Het
Crybg3	C	A	16: 59,378,463 (GRCm39)		probably benign	Het
Ctdp1	A	T	18: 80,463,695 (GRCm39)	S114T	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dmtf1	T	C	5: 9,172,439 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,362,283 (GRCm39)	V3715M	probably damaging	Het
Dok1	A	T	6: 83,009,297 (GRCm39)	L185H	probably damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Eif2ak1	G	T	5: 143,810,698 (GRCm39)	R136L	probably benign	Het
Eml5	A	T	12: 98,797,224 (GRCm39)	S1063T	probably damaging	Het
Fam171b	T	A	2: 83,685,853 (GRCm39)	L179*	probably null	Het
Flot1	G	T	17: 36,135,267 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,571,866 (GRCm39)	H1491L	probably damaging	Het
Frem1	C	T	4: 82,859,049 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,666,863 (GRCm39)	D195G	probably benign	Het
Golga4	T	G	9: 118,387,368 (GRCm39)	C1497G	probably benign	Het
Gpaa1	T	A	15: 76,215,868 (GRCm39)	C33*	probably null	Het
Hectd1	A	T	12: 51,849,443 (GRCm39)	C254S	possibly damaging	Het
Hspa1b	C	T	17: 35,177,086 (GRCm39)	A300T	probably benign	Het
Igf2bp2	A	G	16: 21,898,246 (GRCm39)	I233T	probably damaging	Het
Iqce	C	A	5: 140,661,003 (GRCm39)	A491S	possibly damaging	Het
Irak3	A	G	10: 119,982,334 (GRCm39)		probably null	Het
Kcnip1	T	A	11: 33,592,495 (GRCm39)	H124L	probably benign	Het
Klhdc10	G	A	6: 30,450,640 (GRCm39)	R393Q	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Map2	T	C	1: 66,452,448 (GRCm39)	V288A	possibly damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Meltf	A	G	16: 31,706,380 (GRCm39)	D288G	possibly damaging	Het
Mgat4e	T	A	1: 134,468,890 (GRCm39)	I385F	probably benign	Het
Mical3	A	C	6: 121,015,030 (GRCm39)	V211G	probably damaging	Het
Mlh1	A	G	9: 111,100,478 (GRCm39)	*39R	probably null	Het
Mre11a	A	G	9: 14,721,116 (GRCm39)	D345G	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Nat1	T	G	8: 67,944,077 (GRCm39)	L154R	probably benign	Het
Nlrp4a	A	G	7: 26,161,905 (GRCm39)	D851G	probably damaging	Het
Npas4	A	C	19: 5,039,684 (GRCm39)	V54G	possibly damaging	Het
Or13n4	T	C	7: 106,423,364 (GRCm39)	Y123C	probably damaging	Het
Pcbp4	G	A	9: 106,339,292 (GRCm39)	G100R	probably damaging	Het
Pcdh17	A	G	14: 84,770,737 (GRCm39)	T1072A	probably benign	Het
Pcdh18	T	C	3: 49,708,906 (GRCm39)	N803S	probably benign	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Ppm1l	T	A	3: 69,224,931 (GRCm39)	L11Q	probably damaging	Het
Pram1	T	A	17: 33,864,411 (GRCm39)	V658E	probably damaging	Het
Prr12	C	T	7: 44,699,225 (GRCm39)		probably benign	Het
Prxl2b	A	G	4: 154,981,531 (GRCm39)		probably null	Het
Ptprq	A	G	10: 107,444,137 (GRCm39)	V1489A	probably benign	Het
Ryr1	T	A	7: 28,768,540 (GRCm39)	I2817F	probably damaging	Het
Sall2	A	G	14: 52,551,950 (GRCm39)	L413P	probably damaging	Het
Slc7a9	T	A	7: 35,153,554 (GRCm39)	M185K	probably benign	Het
Stag2	C	T	X: 41,355,130 (GRCm39)	H1149Y	possibly damaging	Het
Timm10b	T	A	7: 105,290,298 (GRCm39)	Y64N	probably damaging	Het
Tmem30c	T	C	16: 57,086,868 (GRCm39)	T312A	probably benign	Het
Tmem9b	G	T	7: 109,344,550 (GRCm39)	C17*	probably null	Het
Vmn2r68	C	A	7: 84,881,622 (GRCm39)	R486L	probably benign	Het
Xkr9	T	A	1: 13,771,387 (GRCm39)	I301N	probably damaging	Het
Xpo7	T	C	14: 70,925,704 (GRCm39)	Q446R	probably damaging	Het
Ythdf3	T	C	3: 16,259,362 (GRCm39)	V503A	possibly damaging	Het
Zfp280b	T	A	10: 75,875,048 (GRCm39)	V309D	probably damaging	Het
Zfp53	T	A	17: 21,729,772 (GRCm39)	C602S	probably benign	Het
Zfp616	A	T	11: 73,974,643 (GRCm39)	N395I	possibly damaging	Het
Zfp644	T	C	5: 106,783,867 (GRCm39)	I862M	probably benign	Het
Zfp715	T	C	7: 42,949,019 (GRCm39)	T314A	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
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'- GGCCTTAGGTTACCCACTTC -3'
(R):5'- AAGGCCACTGTTCACACTTC -3'

Sequencing Primer
(F):5'- TGAGCTGAGACATAGAGCCTG -3'
(R):5'- AGGCCACTGTTCACACTTCATCTC -3'

Posted On

2016-06-06