Mutagenetix > Incidental Mutation

Incidental Mutation 'R4120:Asnsd1'

315251

Institutional Source

Beutler Lab

Gene Symbol

Asnsd1

Ensembl Gene

ENSMUSG00000026095

Gene Name

asparagine synthetase domain containing 1

Synonyms

2210409M21Rik

MMRRC Submission

040993-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R4120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53383776-53391911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53387154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 158 (S158P)

Ref Sequence

ENSEMBL: ENSMUSP00000139404 (fasta)

Gene Model

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

AlphaFold

Q8BFS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027264
AA Change: S158P

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

SMART Domains

Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: S158P

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 damaging
Transcript: ENSMUST00000144660
AA Change: S158P

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

SMART Domains

Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: S158P

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

Meta Mutation Damage Score

0.8098

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (55/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,133,388 (GRCm39)	E1233*	probably null	Het
Afap1l1	T	C	18: 61,872,243 (GRCm39)	D526G	probably damaging	Het
Ago4	A	G	4: 126,390,600 (GRCm39)	Y807H	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Arhgap40	A	G	2: 158,374,250 (GRCm39)	M222V	probably benign	Het
Cdh15	T	C	8: 123,590,162 (GRCm39)	V365A	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Col4a1	G	A	8: 11,256,263 (GRCm39)	P1535S	unknown	Het
Dennd2a	G	A	6: 39,442,030 (GRCm39)	R947C	probably damaging	Het
Dlg2	G	A	7: 91,614,846 (GRCm39)	V217I	probably damaging	Het
Dnaaf2	T	C	12: 69,244,812 (GRCm39)	D83G	possibly damaging	Het
Dppa5a	A	T	9: 78,275,137 (GRCm39)	M55K	possibly damaging	Het
Ect2l	A	G	10: 18,006,466 (GRCm39)	V779A	probably benign	Het
Ehhadh	A	G	16: 21,581,934 (GRCm39)	S353P	probably benign	Het
Etv3	A	G	3: 87,443,589 (GRCm39)	D391G	probably benign	Het
Fastkd1	T	A	2: 69,537,654 (GRCm39)	K309N	probably damaging	Het
Fip1l1	T	A	5: 74,748,852 (GRCm39)	Y375N	probably damaging	Het
Flvcr2	T	C	12: 85,832,903 (GRCm39)	S308P	probably benign	Het
Fyco1	T	C	9: 123,654,691 (GRCm39)	Y1065C	probably benign	Het
Gfra2	A	G	14: 71,203,715 (GRCm39)	D31G	probably damaging	Het
Gm17175	A	T	14: 51,810,534 (GRCm39)	I31N	probably damaging	Het
Gm6003	T	A	7: 32,864,976 (GRCm39)		noncoding transcript	Het
Gm9951	T	C	8: 34,522,993 (GRCm39)		noncoding transcript	Het
Hspa2	A	G	12: 76,452,008 (GRCm39)	E234G	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Iqsec1	A	T	6: 90,639,584 (GRCm39)	Y1065*	probably null	Het
Ltk	T	A	2: 119,588,429 (GRCm39)		probably benign	Het
Map2	G	A	1: 66,455,063 (GRCm39)	A1318T	probably damaging	Het
Mas1	A	T	17: 13,061,233 (GRCm39)	N63K	probably damaging	Het
Myo15b	T	C	11: 115,764,318 (GRCm39)	S1311P	probably benign	Het
Nav3	A	G	10: 109,739,605 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,133,359 (GRCm39)		noncoding transcript	Het
Oca2	A	T	7: 55,904,630 (GRCm39)	D32V	probably damaging	Het
Or51v8	T	C	7: 103,320,221 (GRCm39)	T6A	probably benign	Het
Or8b9	T	C	9: 37,766,705 (GRCm39)	L197S	possibly damaging	Het
Otub2	T	C	12: 103,370,489 (GRCm39)	V257A	probably damaging	Het
Pink1	G	A	4: 138,042,822 (GRCm39)	R461*	probably null	Het
Plxna2	T	C	1: 194,462,935 (GRCm39)	C901R	probably damaging	Het
Ptchd3	T	A	11: 121,721,572 (GRCm39)	N148K	probably damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Ripor1	T	A	8: 106,345,489 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,711,637 (GRCm39)	N107S	probably damaging	Het
Slc12a2	A	G	18: 58,032,427 (GRCm39)	M376V	possibly damaging	Het
Sp140l2	C	T	1: 85,237,542 (GRCm39)	V81M	possibly damaging	Het
Sptbn5	T	A	2: 119,895,010 (GRCm39)	D798V	possibly damaging	Het
Stradb	T	A	1: 59,019,168 (GRCm39)	Y30N	possibly damaging	Het
Syne1	T	A	10: 5,359,798 (GRCm39)	Q328L	probably damaging	Het
Ttc23l	A	C	15: 10,540,006 (GRCm39)	V159G	probably damaging	Het
Vmn2r100	T	C	17: 19,752,215 (GRCm39)	S753P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,778 (GRCm39)		noncoding transcript	Het
Vmn2r39	G	A	7: 9,026,673 (GRCm39)	H443Y	probably benign	Het
Zfp936	A	G	7: 42,839,630 (GRCm39)	T366A	probably benign	Het
Zkscan3	T	C	13: 21,578,119 (GRCm39)	E256G	possibly damaging	Het

Other mutations in Asnsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Asnsd1	APN	1	53,385,787 (GRCm39)	missense	probably damaging	1.00
IGL00595:Asnsd1	APN	1	53,386,647 (GRCm39)	missense	probably damaging	1.00
IGL00705:Asnsd1	APN	1	53,387,610 (GRCm39)	missense	probably damaging	1.00
IGL01089:Asnsd1	APN	1	53,387,436 (GRCm39)	missense	probably damaging	1.00
IGL01747:Asnsd1	APN	1	53,387,254 (GRCm39)	nonsense	probably null
IGL02274:Asnsd1	APN	1	53,386,734 (GRCm39)	missense	probably benign
R2021:Asnsd1	UTSW	1	53,386,386 (GRCm39)	missense	possibly damaging	0.53
R2022:Asnsd1	UTSW	1	53,386,386 (GRCm39)	missense	possibly damaging	0.53
R2126:Asnsd1	UTSW	1	53,386,476 (GRCm39)	missense	probably benign	0.00
R2174:Asnsd1	UTSW	1	53,386,760 (GRCm39)	missense	probably benign	0.44
R4435:Asnsd1	UTSW	1	53,387,232 (GRCm39)	splice site	probably null
R4464:Asnsd1	UTSW	1	53,391,686 (GRCm39)	splice site	probably null
R4499:Asnsd1	UTSW	1	53,387,129 (GRCm39)	missense	probably benign
R4622:Asnsd1	UTSW	1	53,387,378 (GRCm39)	missense	probably benign	0.13
R5090:Asnsd1	UTSW	1	53,391,563 (GRCm39)	unclassified	probably benign
R5832:Asnsd1	UTSW	1	53,386,634 (GRCm39)	missense	probably damaging	1.00
R5891:Asnsd1	UTSW	1	53,387,136 (GRCm39)	missense	probably benign	0.00
R6215:Asnsd1	UTSW	1	53,387,187 (GRCm39)	splice site	probably null
R6217:Asnsd1	UTSW	1	53,387,187 (GRCm39)	missense	probably benign	0.02
R6353:Asnsd1	UTSW	1	53,386,938 (GRCm39)	missense	probably benign
R6405:Asnsd1	UTSW	1	53,387,154 (GRCm39)	missense	probably damaging	1.00
R6913:Asnsd1	UTSW	1	53,387,390 (GRCm39)	missense	probably damaging	0.99
R7217:Asnsd1	UTSW	1	53,387,352 (GRCm39)	missense	probably damaging	1.00
R7570:Asnsd1	UTSW	1	53,387,417 (GRCm39)	missense	probably damaging	1.00
R7589:Asnsd1	UTSW	1	53,387,126 (GRCm39)	missense	probably benign	0.00
R7716:Asnsd1	UTSW	1	53,386,902 (GRCm39)	missense	probably benign	0.05
R8314:Asnsd1	UTSW	1	53,385,814 (GRCm39)	missense	probably damaging	0.98
R8351:Asnsd1	UTSW	1	53,386,172 (GRCm39)	critical splice donor site	probably null
R8990:Asnsd1	UTSW	1	53,385,901 (GRCm39)	missense	probably damaging	1.00
R9262:Asnsd1	UTSW	1	53,383,934 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATCCTGCTGGAGTCTGAGTC -3'
(R):5'- GATAATGACACCCAGGTTATGTTC -3'

Sequencing Primer
(F):5'- CTGGAGTCTGAGTCAGGTCATTAC -3'
(R):5'- GACACCCAGGTTATGTTCAATAGC -3'

Posted On

2015-05-14