Mutagenetix > Incidental Mutations

Incidental Mutation 'R5752:Asns'

444840

Institutional Source

Beutler Lab

Gene Symbol

Asns

Ensembl Gene

ENSMUSG00000029752

Gene Name

asparagine synthetase

Synonyms

MMRRC Submission

043357-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.407) question?

Stock #

R5752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7675169-7693254 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7689365 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 46 (G46S)

Ref Sequence

ENSEMBL: ENSMUSP00000118003 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031766
AA Change: G46S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: G46S

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

probably damaging
Transcript: ENSMUST00000115542
AA Change: G46S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: G46S

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 damaging
Transcript: ENSMUST00000126303
AA Change: G46S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752
AA Change: G46S

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

probably damaging
Transcript: ENSMUST00000139596
AA Change: G46S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120489
Gene: ENSMUSG00000029752
AA Change: G46S

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

probably damaging
Transcript: ENSMUST00000148349
AA Change: G46S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118003
Gene: ENSMUSG00000029752
AA Change: G46S

Domain	Start	End	E-Value	Type
Pfam:GATase_6	24	127	1.4e-17	PFAM
Pfam:GATase_7	47	127	2.6e-18	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (58/59)

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
1700014D04Rik	T	C	13: 59,743,202	Y268C	probably damaging	Het
A330017A19Rik	C	A	17: 46,890,040		probably benign	Het
Aldh1l2	C	A	10: 83,520,380	G49C	probably damaging	Het
Arhgap26	G	A	18: 39,286,672	E11K	probably damaging	Het
Atrn	G	T	2: 130,906,544		probably benign	Het
C77080	GGTG	GGTGTG	4: 129,223,980		probably null	Het
Cep126	A	C	9: 8,120,745	Y92*	probably null	Het
Cfap69	T	C	5: 5,589,204	T567A	probably damaging	Het
Clgn	T	A	8: 83,397,041	Y61N	probably damaging	Het
Col28a1	T	G	6: 8,015,025	K793N	possibly damaging	Het
Cxcl9	C	A	5: 92,323,856	M108I	probably benign	Het
Cyp4f37	A	T	17: 32,631,332	I318F	probably damaging	Het
Daam1	T	C	12: 71,946,546	M363T	unknown	Het
Dnajc13	A	C	9: 104,192,774		probably null	Het
Entpd2	G	A	2: 25,399,769		probably benign	Het
F3	T	A	3: 121,732,404	N205K	probably damaging	Het
Fat2	A	T	11: 55,289,237	F1426Y	possibly damaging	Het
Galnt6	A	T	15: 100,704,126	F267I	probably damaging	Het
Gm1322	G	A	2: 67,184,635		noncoding transcript	Het
Gm6768	A	G	12: 119,262,614		noncoding transcript	Het
Gm960	C	A	19: 4,626,020	A695S	probably benign	Het
Hdgfl3	A	C	7: 81,899,703	S143A	possibly damaging	Het
Ints7	T	A	1: 191,575,893	D12E	probably benign	Het
Kank3	A	G	17: 33,818,063	T114A	probably benign	Het
Lrp1b	A	G	2: 41,295,612	Y1364H	probably damaging	Het
Mef2b	A	G	8: 70,165,617	T116A	possibly damaging	Het
Megf8	C	T	7: 25,355,114	T1885I	probably damaging	Het
Mrps11	A	G	7: 78,783,595	K30E	probably benign	Het
Naca	T	A	10: 128,041,928		probably benign	Het
Olfr521	T	C	7: 99,767,948	I262T	probably benign	Het
Paip2b	C	T	6: 83,831,270		probably null	Het
Plcb2	G	T	2: 118,711,051		probably benign	Het
Plcd4	A	G	1: 74,547,972		probably null	Het
Pnpla8	A	G	12: 44,282,887	N74S	probably benign	Het
Pot1b	A	T	17: 55,687,834	I276N	probably damaging	Het
Qprt	C	T	7: 127,109,244	G5D	probably benign	Het
Rab11fip1	T	C	8: 27,156,586	N154S	probably damaging	Het
Rin3	G	A	12: 102,313,119		probably benign	Het
Sdf4	C	T	4: 155,996,304	P37S	probably damaging	Het
Selp	A	T	1: 164,137,242	D491V	probably damaging	Het
Sh3gl3	A	G	7: 82,174,948		probably benign	Het
Sp110	G	C	1: 85,577,202		probably benign	Het
Tas2r134	A	G	2: 51,627,868	R120G	probably damaging	Het
Tgfbr3	T	C	5: 107,139,807	R509G	probably benign	Het
Tle3	T	A	9: 61,407,471	Y231N	probably damaging	Het
Ttc41	C	T	10: 86,758,346	T881I	probably benign	Het
Ttll8	T	C	15: 88,932,728	Y271C	probably benign	Het
Ttn	A	T	2: 76,947,984	I1307K	possibly damaging	Het
Ube2k	A	G	5: 65,566,068	D48G	probably damaging	Het
Vcan	T	C	13: 89,679,950	T3126A	probably damaging	Het
Vps13d	T	C	4: 145,148,970	T1656A	probably benign	Het
Zzz3	C	A	3: 152,452,122	S777R	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
IGL01996:Asns	APN	6	7682378	missense	possibly damaging	0.56
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
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

Predicted Primers

PCR Primer
(F):5'- TCATAACCATAGGTCTGAAGGTGAG -3'
(R):5'- AAAGCTGGTTTGTGTCCAAC -3'

Sequencing Primer
(F):5'- TCTGAAGGTGAGTTATAGCCAGCC -3'
(R):5'- TCAATGTGAGACCCTGTGC -3'

Posted On

2016-11-21