Mutagenetix > Incidental Mutation

Incidental Mutation 'R4435:Asnsd1'

329468

Institutional Source

Beutler Lab

Gene Symbol

Asnsd1

Ensembl Gene

ENSMUSG00000026095

Gene Name

asparagine synthetase domain containing 1

Synonyms

2210409M21Rik

MMRRC Submission

041149-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R4435 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53344617-53352752 bp(-) (GRCm38)

Type of Mutation

splice site (165 bp from exon)

DNA Base Change (assembly)

A to T at 53348073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027264] [ENSMUST00000123519] [ENSMUST00000144660] [ENSMUST00000147021] [ENSMUST00000154402]

AlphaFold

Q8BFS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027264
AA Change: W132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: W132R

Domain	Start	End	E-Value	Type
Pfam:GATase_7	59	162	2.4e-8	PFAM
Pfam:Asn_synthase	305	388	6.9e-7	PFAM
Pfam:Asn_synthase	505	619	2.4e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123519

SMART Domains

Protein: ENSMUSP00000139025
Gene: ENSMUSG00000026095

Domain	Start	End	E-Value	Type
Pfam:Asn_synthase	2	120	4.5e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136468

Predicted Effect

probably damaging
Transcript: ENSMUST00000144660
AA Change: W132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: W132R

Domain	Start	End	E-Value	Type
Pfam:GATase_7	59	162	1.4e-8	PFAM
Pfam:Asn_synthase	304	565	5.6e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147021

Predicted Effect

probably null
Transcript: ENSMUST00000154402

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	C	12: 113,490,661	Q366P	probably damaging	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Ank3	C	T	10: 69,987,070	S523L	probably damaging	Het
Arap1	C	A	7: 101,390,254	R574S	possibly damaging	Het
Arhgap25	T	C	6: 87,462,938	I576V	possibly damaging	Het
Ascc3	T	A	10: 50,721,885	V1283D	probably benign	Het
Asrgl1	C	T	19: 9,119,199	V125I	probably damaging	Het
Bccip	A	G	7: 133,719,213	R239G	probably benign	Het
Cdyl	T	C	13: 35,858,250		probably null	Het
Cyfip1	T	C	7: 55,900,041	I650T	probably damaging	Het
Dennd4c	C	A	4: 86,798,075	Q506K	probably benign	Het
Fam135b	T	C	15: 71,448,739	D1313G	probably damaging	Het
Fam169a	A	G	13: 97,126,740	D567G	probably damaging	Het
Gm5134	T	G	10: 75,995,824	S366A	probably damaging	Het
Gm5849	T	A	3: 90,777,875	K1M	probably null	Het
Gpn3	A	G	5: 122,382,052	D223G	probably benign	Het
Hk1	A	G	10: 62,275,844	Y713H	probably damaging	Het
Ifih1	A	G	2: 62,645,890	L14P	probably damaging	Het
Kmt2c	A	T	5: 25,314,877	N2078K	possibly damaging	Het
Maf	T	A	8: 115,706,853	E4V	unknown	Het
Mbtd1	T	A	11: 93,932,222	D489E	probably benign	Het
Myrip	C	T	9: 120,335,614		probably benign	Het
Nedd4l	A	G	18: 65,212,825	D816G	possibly damaging	Het
Nwd1	T	C	8: 72,688,136	V934A	possibly damaging	Het
Olfr290	A	G	7: 84,916,021	M81V	probably benign	Het
Olfr446	T	A	6: 42,928,089	I286N	probably damaging	Het
Psd	A	T	19: 46,314,494	I158N	probably damaging	Het
Ptprq	A	G	10: 107,685,055	V752A	possibly damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Senp2	T	A	16: 22,014,241	V93E	possibly damaging	Het
Siah1b	G	A	X: 164,071,692	P131S	probably damaging	Het
Slc38a4	T	C	15: 97,009,018	S280G	probably benign	Het
Sos2	T	C	12: 69,614,699	E666G	possibly damaging	Het
Strip2	T	C	6: 29,925,050	V129A	probably benign	Het
Tsc2	G	A	17: 24,599,713	P1450L	probably benign	Het
Ttn	T	C	2: 76,916,875	E4610G	probably benign	Het
Uimc1	T	C	13: 55,075,823	E212G	probably damaging	Het
Zc3h18	T	C	8: 122,413,952		probably null	Het
Zswim3	T	A	2: 164,820,643	C348S	probably benign	Het

Other mutations in Asnsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Asnsd1	APN	1	53346628	missense	probably damaging	1.00
IGL00595:Asnsd1	APN	1	53347488	missense	probably damaging	1.00
IGL00705:Asnsd1	APN	1	53348451	missense	probably damaging	1.00
IGL01089:Asnsd1	APN	1	53348277	missense	probably damaging	1.00
IGL01747:Asnsd1	APN	1	53348095	nonsense	probably null
IGL02274:Asnsd1	APN	1	53347575	missense	probably benign
R2021:Asnsd1	UTSW	1	53347227	missense	possibly damaging	0.53
R2022:Asnsd1	UTSW	1	53347227	missense	possibly damaging	0.53
R2126:Asnsd1	UTSW	1	53347317	missense	probably benign	0.00
R2174:Asnsd1	UTSW	1	53347601	missense	probably benign	0.44
R4120:Asnsd1	UTSW	1	53347995	missense	probably damaging	1.00
R4464:Asnsd1	UTSW	1	53352527	splice site	probably null
R4499:Asnsd1	UTSW	1	53347970	missense	probably benign
R4622:Asnsd1	UTSW	1	53348219	missense	probably benign	0.13
R5090:Asnsd1	UTSW	1	53352404	unclassified	probably benign
R5832:Asnsd1	UTSW	1	53347475	missense	probably damaging	1.00
R5891:Asnsd1	UTSW	1	53347977	missense	probably benign	0.00
R6215:Asnsd1	UTSW	1	53348028	splice site	probably null
R6217:Asnsd1	UTSW	1	53348028	missense	probably benign	0.02
R6353:Asnsd1	UTSW	1	53347779	missense	probably benign
R6405:Asnsd1	UTSW	1	53347995	missense	probably damaging	1.00
R6913:Asnsd1	UTSW	1	53348231	missense	probably damaging	0.99
R7217:Asnsd1	UTSW	1	53348193	missense	probably damaging	1.00
R7570:Asnsd1	UTSW	1	53348258	missense	probably damaging	1.00
R7589:Asnsd1	UTSW	1	53347967	missense	probably benign	0.00
R7716:Asnsd1	UTSW	1	53347743	missense	probably benign	0.05
R8314:Asnsd1	UTSW	1	53346655	missense	probably damaging	0.98
R8351:Asnsd1	UTSW	1	53347013	critical splice donor site	probably null
R8990:Asnsd1	UTSW	1	53346742	missense	probably damaging	1.00
R9262:Asnsd1	UTSW	1	53344775	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCACATTCTTCGGCAATATCC -3'
(R):5'- CATGGCAATGTGTTCTTATGGAATG -3'

Sequencing Primer
(F):5'- CCTCCTTAGAAATGTATCTCCAAGG -3'
(R):5'- CAATGTGTTCTTATGGAATGGAGAAG -3'

Posted On

2015-07-21