Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01747:Asnsd1'

153038

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asnsd1

Ensembl Gene

ENSMUSG00000026095

Gene Name

asparagine synthetase domain containing 1

Synonyms

2210409M21Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01747

Quality Score

Status

Chromosome

Chromosomal Location

53344617-53352752 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 53348095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 124 (Y124*)

Ref Sequence

ENSEMBL: ENSMUSP00000139404 (fasta)

Gene Model

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

AlphaFold

Q8BFS9

Predicted Effect

probably null
Transcript: ENSMUST00000027264
AA Change: Y124*

SMART Domains

Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: Y124*

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 benign
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 null
Transcript: ENSMUST00000144660
AA Change: Y124*

SMART Domains

Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: Y124*

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 benign
Transcript: ENSMUST00000154402

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,556,525		probably null	Het
Abca14	A	G	7: 120,278,087	N986S	probably benign	Het
Adamts17	G	A	7: 67,052,011	G702D	probably damaging	Het
Aox3	G	A	1: 58,159,658	V671M	probably damaging	Het
Astn2	A	T	4: 65,794,618	M595K	probably benign	Het
Col2a1	T	C	15: 97,991,392		probably benign	Het
Dhrs2	A	T	14: 55,234,663	I4L	probably benign	Het
Fbxo4	A	T	15: 3,965,755	L369*	probably null	Het
Gpbp1	G	A	13: 111,453,050	R129C	probably damaging	Het
Lrp1b	T	A	2: 40,860,685	I2956L	probably damaging	Het
Myo16	C	T	8: 10,604,877	T1843I	probably damaging	Het
Olfr1087	T	C	2: 86,690,701	I91M	possibly damaging	Het
Olfr342	T	C	2: 36,527,832	L140P	probably damaging	Het
Pcdhb2	T	G	18: 37,296,303	V86G	probably damaging	Het
Pskh1	T	C	8: 105,913,204	M172T	probably damaging	Het
Slc38a10	T	C	11: 120,134,774		probably benign	Het
Spry2	C	T	14: 105,893,054	D233N	probably damaging	Het
Tmem163	T	A	1: 127,668,720	R84W	probably damaging	Het
Trappc11	T	C	8: 47,519,621	I306V	probably benign	Het
Virma	T	C	4: 11,526,877	L1092P	probably damaging	Het
Vmn2r98	A	G	17: 19,066,440	Y400C	probably damaging	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
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
R4435:Asnsd1	UTSW	1	53348073	splice site	probably null
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

Posted On

2014-02-04