Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01996:Asns'

182895

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asns

Ensembl Gene

ENSMUSG00000029752

Gene Name

asparagine synthetase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

IGL01996

Quality Score

Status

Chromosome

Chromosomal Location

7675169-7693254 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7682378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000111204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031766] [ENSMUST00000115542] [ENSMUST00000126303] [ENSMUST00000139596] [ENSMUST00000148349]

AlphaFold

Q61024

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031766
AA Change: D189G

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: D189G

Domain	Start	End	E-Value	Type
Pfam:GATase_6	29	160	4.3e-21	PFAM
Pfam:GATase_7	47	166	9.1e-26	PFAM
Pfam:DUF3700	68	178	5.5e-6	PFAM
Pfam:GATase_2	91	161	3.3e-5	PFAM
Pfam:Asn_synthase	234	467	1.7e-61	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115542
AA Change: D189G

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: D189G

Domain	Start	End	E-Value	Type
Pfam:GATase_6	29	160	1.2e-19	PFAM
Pfam:GATase_7	47	166	4.8e-25	PFAM
Pfam:DUF3700	64	180	3.3e-6	PFAM
Pfam:Asn_synthase	234	390	2.4e-46	PFAM
Pfam:Asn_synthase	382	547	1.5e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126303
AA Change: D189G

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752
AA Change: D189G

Domain	Start	End	E-Value	Type
Pfam:GATase_6	28	160	1.3e-24	PFAM
Pfam:GATase_7	47	166	3.1e-29	PFAM
Pfam:DUF3700	67	180	6.3e-10	PFAM
Pfam:GATase_2	89	161	1.4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133972

Predicted Effect

probably benign
Transcript: ENSMUST00000139596

SMART Domains

Protein: ENSMUSP00000120489
Gene: ENSMUSG00000029752

Domain	Start	End	E-Value	Type
Pfam:GATase_6	26	157	7e-25	PFAM
Pfam:GATase_7	47	157	1e-27	PFAM
Pfam:DUF3700	66	158	5.7e-9	PFAM
Pfam:GATase_2	89	158	1.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140097

Predicted Effect

probably benign
Transcript: ENSMUST00000148349

SMART Domains

Protein: ENSMUSP00000118003
Gene: ENSMUSG00000029752

Domain	Start	End	E-Value	Type
Pfam:GATase_6	24	127	1.4e-17	PFAM
Pfam:GATase_7	47	127	2.6e-18	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 is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a hypomophic allele exhibit structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and deficits in short- and long-term memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,150,700	V29A	possibly damaging	Het
Adarb1	A	G	10: 77,322,217	L132P	probably damaging	Het
Afg3l1	T	G	8: 123,501,894	M733R	probably damaging	Het
Aox1	C	T	1: 58,082,066	R899C	probably benign	Het
Arhgap44	T	A	11: 65,005,496		probably benign	Het
Brap	A	G	5: 121,678,847		probably benign	Het
Ccdc138	T	A	10: 58,562,030	L564H	probably damaging	Het
Ccdc167	A	G	17: 29,705,487		probably null	Het
Ccdc178	A	G	18: 22,097,756	Y353H	probably damaging	Het
Clca3b	A	T	3: 144,849,163	S41R	probably benign	Het
Dpep3	T	C	8: 105,974,726	N397S	probably damaging	Het
Eif1	T	C	11: 100,321,000	I83T	probably benign	Het
Enah	A	T	1: 181,956,505	W80R	unknown	Het
F2rl1	C	T	13: 95,513,924	C150Y	probably damaging	Het
Fbxw24	T	C	9: 109,605,372	R387G	possibly damaging	Het
Fsd1l	A	G	4: 53,647,760	T68A	probably benign	Het
Greb1	T	C	12: 16,690,845	K1412R	possibly damaging	Het
Grin2b	T	C	6: 135,732,586	S1321G	probably damaging	Het
Hist1h4j	G	A	13: 21,735,138	G15S	unknown	Het
Itgb7	C	T	15: 102,217,977	G508D	probably damaging	Het
Kcnq3	A	G	15: 66,023,696	I333T	probably damaging	Het
Knl1	A	G	2: 119,104,061	D2115G	probably damaging	Het
Lmtk3	G	A	7: 45,793,447		probably null	Het
Lrpprc	A	G	17: 84,773,270	Y176H	probably benign	Het
Mier1	T	C	4: 103,127,276	S22P	possibly damaging	Het
Mme	A	T	3: 63,343,549	N337I	probably benign	Het
Mthfd1	A	G	12: 76,303,905	Y687C	probably damaging	Het
Nrp2	T	C	1: 62,749,260	M373T	probably damaging	Het
Nudcd1	A	T	15: 44,405,961	F101Y	probably benign	Het
Nup133	T	A	8: 123,946,595	I66L	probably benign	Het
Olfr1406	T	C	1: 173,183,727	T236A	probably benign	Het
Olfr378	T	A	11: 73,425,968	N5I	probably damaging	Het
Olfr736	T	G	14: 50,393,659	M301R	probably damaging	Het
Osbpl5	A	G	7: 143,707,344		probably null	Het
Paqr8	T	C	1: 20,935,404	F261L	probably damaging	Het
Plxna2	A	G	1: 194,799,776	E1452G	probably damaging	Het
Polh	T	C	17: 46,173,001	D446G	probably benign	Het
Psg19	A	T	7: 18,790,061	M353K	possibly damaging	Het
Sap25	T	C	5: 137,641,818		probably null	Het
Sap30l	C	T	11: 57,809,951	R144*	probably null	Het
Sema6b	C	T	17: 56,131,157	V144M	probably damaging	Het
Sfmbt2	T	C	2: 10,440,026	Y228H	probably benign	Het
Shank2	A	G	7: 144,411,493	D946G	probably damaging	Het
Slc11a1	T	A	1: 74,376,806	L52Q	possibly damaging	Het
Sptlc3	T	C	2: 139,581,504		probably benign	Het
Tgfb1i1	T	C	7: 128,249,292		probably benign	Het
Tifa	T	C	3: 127,796,580		probably benign	Het
Tomm40l	C	T	1: 171,219,655	V265M	possibly damaging	Het
Trim45	C	A	3: 100,928,109	Y469*	probably null	Het
Ttc21a	G	T	9: 119,958,116	A730S	probably damaging	Het
Vmn1r18	A	T	6: 57,390,016	D184E	possibly damaging	Het
Vmn2r120	A	T	17: 57,525,222	I189N	possibly damaging	Het

Other mutations in Asns

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Asns	APN	6	7680179	missense	probably damaging	1.00
IGL00656:Asns	APN	6	7680215	unclassified	probably benign
IGL01534:Asns	APN	6	7675397	missense	probably benign	0.03
IGL02058:Asns	APN	6	7685184	missense	probably damaging	1.00
IGL02311:Asns	APN	6	7676233	critical splice donor site	probably null
IGL02367:Asns	APN	6	7685411	splice site	probably benign
IGL03263:Asns	APN	6	7689404	missense	probably benign	0.07
IGL03341:Asns	APN	6	7682002	missense	probably damaging	0.98
PIT4445001:Asns	UTSW	6	7689277	missense	probably damaging	1.00
R0034:Asns	UTSW	6	7676299	missense	probably damaging	1.00
R0034:Asns	UTSW	6	7676299	missense	probably damaging	1.00
R0050:Asns	UTSW	6	7676019	missense	probably benign	0.02
R0627:Asns	UTSW	6	7675516	missense	probably benign	0.05
R1075:Asns	UTSW	6	7676076	nonsense	probably null
R1591:Asns	UTSW	6	7678007	missense	probably damaging	0.97
R2047:Asns	UTSW	6	7680093	missense	probably damaging	0.99
R2232:Asns	UTSW	6	7689316	missense	possibly damaging	0.82
R2907:Asns	UTSW	6	7675506	missense	probably benign	0.03
R3907:Asns	UTSW	6	7682270	critical splice donor site	probably null
R4373:Asns	UTSW	6	7677978	missense	probably damaging	0.98
R4438:Asns	UTSW	6	7675320	missense	probably benign	0.15
R4660:Asns	UTSW	6	7678012	missense	probably benign	0.05
R4784:Asns	UTSW	6	7678029	missense	probably benign	0.12
R5655:Asns	UTSW	6	7685309	missense	probably benign	0.31
R5752:Asns	UTSW	6	7689365	missense	probably damaging	1.00
R5863:Asns	UTSW	6	7675443	nonsense	probably null
R5864:Asns	UTSW	6	7675443	nonsense	probably null
R5953:Asns	UTSW	6	7682285	missense	probably benign	0.00
R6773:Asns	UTSW	6	7676284	missense	probably benign	0.01
R6789:Asns	UTSW	6	7675344	missense	probably benign
R7389:Asns	UTSW	6	7689291	missense	probably damaging	1.00
R7524:Asns	UTSW	6	7677259	splice site	probably null
R7783:Asns	UTSW	6	7677978	missense	probably damaging	1.00
R7949:Asns	UTSW	6	7685328	missense	probably damaging	0.97
R8722:Asns	UTSW	6	7676085	missense	probably damaging	1.00
R9405:Asns	UTSW	6	7689283	missense	probably damaging	0.99
R9663:Asns	UTSW	6	7680132	missense	probably damaging	1.00
R9697:Asns	UTSW	6	7689268	missense	probably damaging	1.00
R9798:Asns	UTSW	6	7689395	missense	possibly damaging	0.92

Posted On

2014-05-07