Mutagenetix > Incidental Mutation

Incidental Mutation 'R8990:Asnsd1'

684327

Institutional Source

Beutler Lab

Gene Symbol

Asnsd1

Ensembl Gene

ENSMUSG00000026095

Gene Name

asparagine synthetase domain containing 1

Synonyms

2210409M21Rik

MMRRC Submission

068822-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R8990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53383776-53391911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53385901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 491 (G491D)

Ref Sequence

ENSEMBL: ENSMUSP00000027264 (fasta)

Gene Model

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

AlphaFold

Q8BFS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027264
AA Change: G491D

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

SMART Domains

Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: G491D

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 damaging
Transcript: ENSMUST00000123519
AA Change: G14D

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

SMART Domains

Protein: ENSMUSP00000139025
Gene: ENSMUSG00000026095
AA Change: G14D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144660
AA Change: G491D

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

SMART Domains

Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: G491D

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,494 (GRCm39)	V731M		Het
Ank2	A	G	3: 126,841,829 (GRCm39)		probably null	Het
Ano8	G	C	8: 71,929,201 (GRCm39)	P1004R	unknown	Het
Aopep	G	A	13: 63,304,428 (GRCm39)	C480Y	probably damaging	Het
Atp6v1c2	A	G	12: 17,341,647 (GRCm39)	V248A	probably benign	Het
BC035947	C	T	1: 78,475,486 (GRCm39)	V349M	probably damaging	Het
Bcl2l14	A	G	6: 134,400,630 (GRCm39)	D17G	probably damaging	Het
Bltp1	T	C	3: 36,975,370 (GRCm39)	S681P	possibly damaging	Het
Cbs	T	C	17: 31,834,523 (GRCm39)	T489A	probably benign	Het
Ccdc66	T	C	14: 27,208,655 (GRCm39)	K533R	probably benign	Het
Cenpx	A	G	11: 120,602,591 (GRCm39)	F53S	unknown	Het
Col4a4	A	G	1: 82,473,555 (GRCm39)	S657P	unknown	Het
Csnk2a1	A	G	2: 152,096,177 (GRCm39)	Y50C	probably damaging	Het
Ddx60	C	T	8: 62,427,168 (GRCm39)	R748*	probably null	Het
Diaph1	A	T	18: 37,988,857 (GRCm39)	L959H	probably damaging	Het
Dnaaf5	T	G	5: 139,155,951 (GRCm39)	L544R	probably damaging	Het
Dnah10	A	G	5: 124,814,057 (GRCm39)	D399G		Het
Eif2b4	T	C	5: 31,347,971 (GRCm39)	E247G	probably benign	Het
Fmnl2	T	C	2: 53,016,971 (GRCm39)	I1050T	unknown	Het
Gm10272	T	A	10: 77,542,658 (GRCm39)	S67T	probably damaging	Het
Gm32742	G	A	9: 51,058,802 (GRCm39)	P1072S	probably damaging	Het
Hdac11	T	A	6: 91,145,799 (GRCm39)	L151*	probably null	Het
Iars1	A	G	13: 49,841,752 (GRCm39)	D80G	possibly damaging	Het
Kazn	T	C	4: 141,868,947 (GRCm39)	D413G	probably damaging	Het
Kcnc1	T	A	7: 46,077,733 (GRCm39)	*512R	probably null	Het
Kcnf1	G	A	12: 17,225,336 (GRCm39)	T295I	probably benign	Het
Klhl9	A	G	4: 88,640,205 (GRCm39)	V12A	probably benign	Het
Klk6	T	A	7: 43,476,254 (GRCm39)	H31Q	probably benign	Het
Ldhal6b	A	T	17: 5,468,020 (GRCm39)	S305T	probably damaging	Het
Lta4h	C	A	10: 93,314,315 (GRCm39)	D462E	probably damaging	Het
Ly75	T	G	2: 60,188,903 (GRCm39)	R274S	probably benign	Het
Mideas	T	C	12: 84,218,380 (GRCm39)	T527A	probably benign	Het
Mn1	A	G	5: 111,566,381 (GRCm39)	N117S	possibly damaging	Het
Mrgprd	T	C	7: 144,875,915 (GRCm39)	V262A	probably benign	Het
Mtres1	A	G	10: 43,401,233 (GRCm39)	S239P	unknown	Het
Muc4	C	A	16: 32,574,009 (GRCm39)	H696N	probably benign	Het
Nlrp3	A	T	11: 59,439,584 (GRCm39)	Q387L	probably damaging	Het
Nme7	A	G	1: 164,155,902 (GRCm39)	D34G	probably damaging	Het
Ntrk2	T	A	13: 59,007,988 (GRCm39)	L250*	probably null	Het
Or13p8	T	C	4: 118,584,224 (GRCm39)	V260A	probably benign	Het
Palld	C	T	8: 61,968,279 (GRCm39)	E1096K	probably damaging	Het
Pcdh7	A	G	5: 57,879,364 (GRCm39)	D973G	probably benign	Het
Pced1a	A	G	2: 130,264,471 (GRCm39)	Y120H	probably damaging	Het
Pira13	T	A	7: 3,824,273 (GRCm39)	T627S	unknown	Het
Pkhd1	A	G	1: 20,417,529 (GRCm39)	S2541P	probably benign	Het
Ptcd1	A	G	5: 145,102,047 (GRCm39)	S91P	probably damaging	Het
R3hdm1	C	T	1: 128,106,833 (GRCm39)	R229C	probably damaging	Het
Sectm1a	G	T	11: 120,960,701 (GRCm39)	T38K	probably damaging	Het
Serpinb2	A	T	1: 107,450,428 (GRCm39)	I142F	probably damaging	Het
Slc25a39	A	T	11: 102,295,895 (GRCm39)	V112E	possibly damaging	Het
Snap23	G	T	2: 120,415,516 (GRCm39)		probably benign	Het
Sp8	T	A	12: 118,813,122 (GRCm39)	Y326N	possibly damaging	Het
Speer4c2	G	A	5: 15,858,598 (GRCm39)	R141C	probably benign	Het
Spock1	A	T	13: 57,843,984 (GRCm39)		probably null	Het
Trpc2	T	C	7: 101,745,195 (GRCm39)	Y804H	probably benign	Het
Trpc7	T	C	13: 56,952,485 (GRCm39)	N562S	possibly damaging	Het
Trpm6	G	A	19: 18,792,799 (GRCm39)	G741E	probably damaging	Het
Vmn1r160	T	A	7: 22,570,759 (GRCm39)	H37Q	probably damaging	Het
Vmn1r174	G	T	7: 23,453,956 (GRCm39)	M207I	possibly damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably 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
R4120:Asnsd1	UTSW	1	53,387,154 (GRCm39)	missense	probably damaging	1.00
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
R9262:Asnsd1	UTSW	1	53,383,934 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGTAATGAGTTACCTTGCTTCC -3'
(R):5'- TGGTGACCCAAGATGCTGTG -3'

Sequencing Primer
(F):5'- CTTTCCATGATCACCAATAACTCTG -3'
(R):5'- GACCCAAGATGCTGTGAGATCTTAC -3'

Posted On

2021-10-11