Mutagenetix > Incidental Mutation

Incidental Mutation 'R5655:Asns'

442242

Institutional Source

Beutler Lab

Gene Symbol

Asns

Ensembl Gene

ENSMUSG00000029752

Gene Name

asparagine synthetase

Synonyms

MMRRC Submission

043301-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R5655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7675169-7693209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7685309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 116 (M116R)

Ref Sequence

ENSEMBL: ENSMUSP00000111204 (fasta)

Gene Model

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

AlphaFold

Q61024

Predicted Effect

probably benign
Transcript: ENSMUST00000031766
AA Change: M116R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: M116R

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 benign
Transcript: ENSMUST00000115542
AA Change: M116R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: M116R

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: M116R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752
AA Change: M116R

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
AA Change: M116R

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120489
Gene: ENSMUSG00000029752
AA Change: M116R

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 benign
Transcript: ENSMUST00000148349
AA Change: M116R

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118003
Gene: ENSMUSG00000029752
AA Change: M116R

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,746 (GRCm39)	I99F	probably benign	Het
Acan	G	A	7: 78,749,791 (GRCm39)	D1521N	possibly damaging	Het
Acap3	C	T	4: 155,981,076 (GRCm39)	T53I	probably benign	Het
Actr3b	G	T	5: 26,053,366 (GRCm39)	V232F	probably damaging	Het
Adgrl1	G	A	8: 84,665,230 (GRCm39)	V1311M	possibly damaging	Het
Arhgap23	T	C	11: 97,343,372 (GRCm39)		probably null	Het
Asprv1	A	T	6: 86,605,464 (GRCm39)	E103D	probably benign	Het
Atxn2	T	C	5: 121,885,489 (GRCm39)	I232T	probably damaging	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Bckdha	A	G	7: 25,329,789 (GRCm39)	Y414H	probably damaging	Het
Bod1l	G	A	5: 41,974,387 (GRCm39)	T2309M	probably benign	Het
Cacna2d1	T	A	5: 16,507,333 (GRCm39)	F361I	probably damaging	Het
Cdc45	C	T	16: 18,626,029 (GRCm39)		probably null	Het
Cog4	A	G	8: 111,589,939 (GRCm39)	Y368C	probably damaging	Het
Cplx3	C	T	9: 57,523,258 (GRCm39)	V100M	probably damaging	Het
Cyp4a12b	C	G	4: 115,290,994 (GRCm39)	H341D	probably damaging	Het
Ddx10	A	T	9: 53,120,987 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,431,424 (GRCm39)	Y414F	probably benign	Het
Dync1h1	A	G	12: 110,595,496 (GRCm39)	K1445R	probably benign	Het
Dync2h1	A	C	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
Dzip1	T	A	14: 119,124,644 (GRCm39)		probably null	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fgf14	T	C	14: 124,429,828 (GRCm39)	N36D	probably benign	Het
Fmnl3	A	T	15: 99,219,743 (GRCm39)	F668L	probably damaging	Het
Foxl2	C	T	9: 98,838,048 (GRCm39)	P112L	probably damaging	Het
Foxp2	T	G	6: 15,197,112 (GRCm39)	H51Q	probably damaging	Het
Frem3	A	T	8: 81,339,323 (GRCm39)	T539S	probably benign	Het
Ftcd	G	T	10: 76,423,937 (GRCm39)	G493C	probably damaging	Het
Gab2	A	G	7: 96,948,099 (GRCm39)	S230G	probably benign	Het
Gabra1	A	T	11: 42,073,750 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,637,975 (GRCm39)	I350L	probably benign	Het
Idh2	A	C	7: 79,747,996 (GRCm39)	C235G	probably damaging	Het
Ift140	C	T	17: 25,264,038 (GRCm39)	L514F	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lamc3	C	A	2: 31,815,729 (GRCm39)	R1142S	probably benign	Het
Lmod2	A	T	6: 24,603,853 (GRCm39)	H276L	possibly damaging	Het
Lrrc37a	T	A	11: 103,389,381 (GRCm39)	I2015L	probably benign	Het
Mcf2l	A	G	8: 13,060,444 (GRCm39)	E764G	probably damaging	Het
Mcph1	G	A	8: 18,838,326 (GRCm39)	M749I	probably benign	Het
Msh2	C	T	17: 88,026,871 (GRCm39)	A789V	possibly damaging	Het
Ndufa2	T	C	18: 36,877,519 (GRCm39)	I19V	probably benign	Het
Neurod4	T	A	10: 130,107,002 (GRCm39)	K91*	probably null	Het
Nos1	G	T	5: 118,061,322 (GRCm39)	G883C	probably damaging	Het
Npdc1	A	T	2: 25,297,692 (GRCm39)	H121L	possibly damaging	Het
Or2ak5	G	A	11: 58,611,077 (GRCm39)	H266Y	probably damaging	Het
Or3a10	A	C	11: 73,935,160 (GRCm39)	Y313*	probably null	Het
Orc1	A	G	4: 108,450,636 (GRCm39)	I123V	probably benign	Het
P2ry13	C	T	3: 59,117,260 (GRCm39)	V173M	possibly damaging	Het
Pigk	T	A	3: 152,445,858 (GRCm39)	N156K	probably damaging	Het
Pik3ap1	A	T	19: 41,286,680 (GRCm39)	F569Y	possibly damaging	Het
Pla2g4c	T	A	7: 13,063,889 (GRCm39)		probably null	Het
Plk3	A	G	4: 116,988,677 (GRCm39)	L324P	probably damaging	Het
Pom121	A	G	5: 135,421,171 (GRCm39)	S260P	unknown	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Prrt2	G	A	7: 126,618,574 (GRCm39)	A297V	probably damaging	Het
Prss47	A	T	13: 65,192,857 (GRCm39)	V308E	probably damaging	Het
Ptbp2	T	C	3: 119,517,806 (GRCm39)	I139V	probably benign	Het
Ptprz1	A	T	6: 22,999,772 (GRCm39)	M621L	probably benign	Het
Rab6a	G	A	7: 100,257,501 (GRCm39)		probably null	Het
Ranbp1	C	T	16: 18,059,669 (GRCm39)	D127N	probably damaging	Het
Rnpepl1	G	T	1: 92,847,032 (GRCm39)	R272L	probably damaging	Het
Slc27a2	T	C	2: 126,420,859 (GRCm39)	L314P	probably damaging	Het
Slc6a5	A	T	7: 49,606,218 (GRCm39)	M709L	probably benign	Het
Smarcc1	A	T	9: 109,986,412 (GRCm39)	S238C	probably null	Het
Snx29	C	T	16: 11,573,185 (GRCm39)	L476F	probably damaging	Het
Sorbs2	T	C	8: 46,194,618 (GRCm39)		probably null	Het
St6galnac2	T	C	11: 116,575,972 (GRCm39)	N160D	probably damaging	Het
Thsd7b	A	G	1: 129,556,671 (GRCm39)		probably null	Het
Trpc4ap	G	A	2: 155,495,547 (GRCm39)	T306I	possibly damaging	Het
Ubr5	T	G	15: 38,015,337 (GRCm39)	Y891S	probably damaging	Het
Vmn1r220	A	G	13: 23,368,298 (GRCm39)	F133L	probably benign	Het
Vmn1r56	T	A	7: 5,198,700 (GRCm39)	I306F	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,315 (GRCm39)	V193A	probably benign	Het
Yipf1	T	A	4: 107,202,354 (GRCm39)	V239E	probably damaging	Het
Zfp7	G	T	15: 76,775,629 (GRCm39)	C557F	probably damaging	Het

Other mutations in Asns

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Asns	APN	6	7,680,179 (GRCm39)	missense	probably damaging	1.00
IGL00656:Asns	APN	6	7,680,215 (GRCm39)	unclassified	probably benign
IGL01534:Asns	APN	6	7,675,397 (GRCm39)	missense	probably benign	0.03
IGL01996:Asns	APN	6	7,682,378 (GRCm39)	missense	possibly damaging	0.56
IGL02058:Asns	APN	6	7,685,184 (GRCm39)	missense	probably damaging	1.00
IGL02311:Asns	APN	6	7,676,233 (GRCm39)	critical splice donor site	probably null
IGL02367:Asns	APN	6	7,685,411 (GRCm39)	splice site	probably benign
IGL03263:Asns	APN	6	7,689,404 (GRCm39)	missense	probably benign	0.07
IGL03341:Asns	APN	6	7,682,002 (GRCm39)	missense	probably damaging	0.98
PIT4445001:Asns	UTSW	6	7,689,277 (GRCm39)	missense	probably damaging	1.00
R0034:Asns	UTSW	6	7,676,299 (GRCm39)	missense	probably damaging	1.00
R0034:Asns	UTSW	6	7,676,299 (GRCm39)	missense	probably damaging	1.00
R0050:Asns	UTSW	6	7,676,019 (GRCm39)	missense	probably benign	0.02
R0627:Asns	UTSW	6	7,675,516 (GRCm39)	missense	probably benign	0.05
R1075:Asns	UTSW	6	7,676,076 (GRCm39)	nonsense	probably null
R1591:Asns	UTSW	6	7,678,007 (GRCm39)	missense	probably damaging	0.97
R2047:Asns	UTSW	6	7,680,093 (GRCm39)	missense	probably damaging	0.99
R2232:Asns	UTSW	6	7,689,316 (GRCm39)	missense	possibly damaging	0.82
R2907:Asns	UTSW	6	7,675,506 (GRCm39)	missense	probably benign	0.03
R3907:Asns	UTSW	6	7,682,270 (GRCm39)	critical splice donor site	probably null
R4373:Asns	UTSW	6	7,677,978 (GRCm39)	missense	probably damaging	0.98
R4438:Asns	UTSW	6	7,675,320 (GRCm39)	missense	probably benign	0.15
R4660:Asns	UTSW	6	7,678,012 (GRCm39)	missense	probably benign	0.05
R4784:Asns	UTSW	6	7,678,029 (GRCm39)	missense	probably benign	0.12
R5752:Asns	UTSW	6	7,689,365 (GRCm39)	missense	probably damaging	1.00
R5863:Asns	UTSW	6	7,675,443 (GRCm39)	nonsense	probably null
R5864:Asns	UTSW	6	7,675,443 (GRCm39)	nonsense	probably null
R5953:Asns	UTSW	6	7,682,285 (GRCm39)	missense	probably benign	0.00
R6773:Asns	UTSW	6	7,676,284 (GRCm39)	missense	probably benign	0.01
R6789:Asns	UTSW	6	7,675,344 (GRCm39)	missense	probably benign
R7389:Asns	UTSW	6	7,689,291 (GRCm39)	missense	probably damaging	1.00
R7524:Asns	UTSW	6	7,677,259 (GRCm39)	splice site	probably null
R7783:Asns	UTSW	6	7,677,978 (GRCm39)	missense	probably damaging	1.00
R7949:Asns	UTSW	6	7,685,328 (GRCm39)	missense	probably damaging	0.97
R8722:Asns	UTSW	6	7,676,085 (GRCm39)	missense	probably damaging	1.00
R9405:Asns	UTSW	6	7,689,283 (GRCm39)	missense	probably damaging	0.99
R9663:Asns	UTSW	6	7,680,132 (GRCm39)	missense	probably damaging	1.00
R9697:Asns	UTSW	6	7,689,268 (GRCm39)	missense	probably damaging	1.00
R9798:Asns	UTSW	6	7,689,395 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGATTGACACCTCTCTGGGATTC -3'
(R):5'- AATGCACACGAGCTGATGC -3'

Sequencing Primer
(F):5'- TGGGATTCTCACTATGATCCAGGAAG -3'
(R):5'- TGCTAGAACACAGATACTGGGTC -3'

Posted On

2016-11-09