Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01302:Adss1'

73301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adss1

Ensembl Gene

ENSMUSG00000011148

Gene Name

adenylosuccinate synthase 1

Synonyms

Adss, Adssl1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

IGL01302

Quality Score

Status

Chromosome

Chromosomal Location

112586481-112607789 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 112601170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021726] [ENSMUST00000180015]

AlphaFold

P28650

Predicted Effect

probably benign
Transcript: ENSMUST00000021726

SMART Domains

Protein: ENSMUSP00000021726
Gene: ENSMUSG00000011148

Domain	Start	End	E-Value	Type
Adenylsucc_synt	33	455	5.9e-259	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180015

SMART Domains

Protein: ENSMUSP00000136572
Gene: ENSMUSG00000011148

Domain	Start	End	E-Value	Type
Adenylsucc_synt	33	478	2.17e-248	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223044

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,470 (GRCm39)		probably benign	Het
Abcb5	T	A	12: 118,881,935 (GRCm39)	D598V	probably damaging	Het
Akap9	T	A	5: 4,020,711 (GRCm39)	S1141T	probably benign	Het
Avil	T	C	10: 126,852,903 (GRCm39)		probably null	Het
Avl9	C	A	6: 56,702,075 (GRCm39)	H77N	probably damaging	Het
Cacna1e	A	G	1: 154,319,653 (GRCm39)	V1349A	probably damaging	Het
Cdc23	A	C	18: 34,767,697 (GRCm39)	S483A	probably benign	Het
Cep192	C	T	18: 67,991,974 (GRCm39)	P1951S	probably benign	Het
Cp	A	G	3: 20,020,531 (GRCm39)	T175A	probably damaging	Het
Dubr	A	C	16: 50,552,998 (GRCm39)		noncoding transcript	Het
Eif4g2	G	T	7: 110,673,920 (GRCm39)	Q695K	possibly damaging	Het
Endod1	A	T	9: 14,268,535 (GRCm39)	S317T	possibly damaging	Het
Ep400	T	C	5: 110,889,914 (GRCm39)	T450A	probably benign	Het
Erc1	A	C	6: 119,699,264 (GRCm39)	V790G	probably damaging	Het
Fam222a	T	A	5: 114,732,514 (GRCm39)	L23Q	possibly damaging	Het
Fancf	A	G	7: 51,511,035 (GRCm39)	V323A	probably benign	Het
Grik2	T	A	10: 49,120,426 (GRCm39)	Q621L	probably damaging	Het
Gsk3b	G	T	16: 38,040,380 (GRCm39)	R319L	probably benign	Het
Ikzf1	A	G	11: 11,718,923 (GRCm39)	Y297C	probably damaging	Het
Katnal2	T	C	18: 77,134,863 (GRCm39)		probably benign	Het
Lrba	G	T	3: 86,202,707 (GRCm39)	C289F	probably damaging	Het
Mos	T	C	4: 3,871,815 (GRCm39)		probably benign	Het
Mycn	T	C	12: 12,987,587 (GRCm39)	D270G	possibly damaging	Het
Or52e15	A	T	7: 104,645,928 (GRCm39)	M61K	probably damaging	Het
Or6c207	T	A	10: 129,104,392 (GRCm39)	I267F	probably benign	Het
Pclo	A	G	5: 14,726,013 (GRCm39)		probably benign	Het
Pgm1	A	G	4: 99,786,803 (GRCm39)	D14G	probably damaging	Het
Pramel7	T	A	2: 87,321,717 (GRCm39)	D106V	possibly damaging	Het
Prdm9	G	T	17: 15,773,608 (GRCm39)	H263N	probably benign	Het
Psd4	T	A	2: 24,286,799 (GRCm39)		probably null	Het
Ptprc	G	A	1: 138,027,369 (GRCm39)	T493I	possibly damaging	Het
Rbbp8	T	A	18: 11,855,036 (GRCm39)	S420R	probably benign	Het
Sap30bp	A	G	11: 115,853,373 (GRCm39)	T219A	probably damaging	Het
Shld2	C	T	14: 33,981,684 (GRCm39)	V485I	probably benign	Het
Slc2a7	T	A	4: 150,242,021 (GRCm39)	L200Q	probably damaging	Het
Slc38a6	T	A	12: 73,335,299 (GRCm39)		probably null	Het
Tatdn2	T	A	6: 113,680,985 (GRCm39)		probably benign	Het
Thrb	A	G	14: 18,011,056 (GRCm38)		probably benign	Het
Timp4	T	C	6: 115,223,269 (GRCm39)	Y218C	possibly damaging	Het
Tlr5	A	G	1: 182,802,313 (GRCm39)	D525G	probably benign	Het
Usp32	G	T	11: 84,879,308 (GRCm39)	T1467N	probably benign	Het
Vmn2r78	A	G	7: 86,564,569 (GRCm39)	I5V	unknown	Het
Zbtb43	T	C	2: 33,344,103 (GRCm39)	H374R	probably benign	Het
Zfhx4	C	A	3: 5,308,628 (GRCm39)	T618K	probably damaging	Het

Other mutations in Adss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03105:Adss1	APN	12	112,599,155 (GRCm39)	missense	probably benign	0.00
barty	UTSW	12	112,600,623 (GRCm39)	missense	probably damaging	1.00
lannister	UTSW	12	112,601,147 (GRCm39)	missense	probably damaging	1.00
R0179:Adss1	UTSW	12	112,598,703 (GRCm39)	missense	probably benign	0.11
R1722:Adss1	UTSW	12	112,602,915 (GRCm39)	missense	possibly damaging	0.93
R1911:Adss1	UTSW	12	112,599,443 (GRCm39)	missense	probably benign
R2877:Adss1	UTSW	12	112,600,623 (GRCm39)	missense	probably damaging	1.00
R4829:Adss1	UTSW	12	112,601,147 (GRCm39)	missense	probably damaging	1.00
R5155:Adss1	UTSW	12	112,604,642 (GRCm39)	missense	probably damaging	1.00
R6225:Adss1	UTSW	12	112,600,837 (GRCm39)	missense	probably damaging	0.96
R6247:Adss1	UTSW	12	112,594,790 (GRCm39)	missense	probably damaging	1.00
R6873:Adss1	UTSW	12	112,599,138 (GRCm39)	missense	probably benign	0.00
R7012:Adss1	UTSW	12	112,600,670 (GRCm39)	missense	probably benign	0.01
R7449:Adss1	UTSW	12	112,600,585 (GRCm39)	missense	probably damaging	1.00
R7662:Adss1	UTSW	12	112,606,172 (GRCm39)	missense	probably damaging	0.98
R7976:Adss1	UTSW	12	112,602,831 (GRCm39)	missense	probably benign	0.00
R9301:Adss1	UTSW	12	112,602,882 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07