Mutagenetix > Incidental Mutations

Incidental Mutation 'R3083:Gas2l3'

264072

Institutional Source

Beutler Lab

Gene Symbol

Gas2l3

Ensembl Gene

ENSMUSG00000074802

Gene Name

growth arrest-specific 2 like 3

Synonyms

8430435B07Rik, LOC237436

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R3083 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

89408823-89443967 bp(-) (GRCm38)

Type of Mutation

small deletion (3 aa in frame mutation)

DNA Base Change (assembly)

CACTCGTCATACT to CACT at 89430958 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099374] [ENSMUST00000105298] [ENSMUST00000218764] [ENSMUST00000219351] [ENSMUST00000220071] [ENSMUST00000220128] [ENSMUST00000220234]

Predicted Effect

probably benign
Transcript: ENSMUST00000099374

SMART Domains

Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802

Domain	Start	End	E-Value	Type
CH	52	166	1.71e-9	SMART
low complexity region	179	194	N/A	INTRINSIC
Pfam:GAS2	215	284	1.8e-29	PFAM
low complexity region	446	460	N/A	INTRINSIC
low complexity region	630	643	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105298

SMART Domains

Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802

Domain	Start	End	E-Value	Type
CH	52	166	1.71e-9	SMART
low complexity region	179	194	N/A	INTRINSIC
Pfam:GAS2	213	286	1.5e-31	PFAM
low complexity region	446	460	N/A	INTRINSIC
low complexity region	630	643	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219073

Predicted Effect

probably benign
Transcript: ENSMUST00000219351

Predicted Effect

probably benign
Transcript: ENSMUST00000220071

Predicted Effect

probably benign
Transcript: ENSMUST00000220128

Predicted Effect

probably benign
Transcript: ENSMUST00000220234

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display partial postnatal lethality with none surviving past 4 months, dilated cardiomyopathy, cardiac interstitial fibrosis, and premature binucleation of cardiomyocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 107,023,715	V341A	possibly damaging	Het
Armc2	T	C	10: 41,966,730	D359G	probably damaging	Het
Cdh6	T	C	15: 13,044,752	D428G	probably damaging	Het
Dennd4a	A	G	9: 64,906,081	N1441D	probably benign	Het
Fbln1	T	G	15: 85,265,253	I617S	probably benign	Het
Gm15446	A	G	5: 109,943,292	N470S	possibly damaging	Het
Grin3a	G	A	4: 49,665,243	R1131W	probably benign	Het
Hist3h2ba	A	G	11: 58,948,976	K13E	probably benign	Het
Incenp	T	A	19: 9,883,779	M480L	unknown	Het
Lrp1b	A	T	2: 40,600,324	M275K	probably damaging	Het
Lrrc14b	C	T	13: 74,363,218	D248N	possibly damaging	Het
Nlrp5	T	C	7: 23,430,163	F885S	probably benign	Het
Olfr102	T	C	17: 37,314,195	N63S	probably damaging	Het
Olfr1228	A	C	2: 89,249,001	V231G	probably damaging	Het
Olfr917	A	G	9: 38,665,616	V76A	probably damaging	Het
Plcl2	T	A	17: 50,687,744	N1080K	probably benign	Het
Rab3gap2	T	A	1: 185,204,269	S10T	probably benign	Het
Rtca	G	A	3: 116,508,025		probably benign	Het
Scn1a	A	G	2: 66,299,637	F1278S	probably damaging	Het
Slitrk3	T	C	3: 73,048,595	D948G	probably benign	Het
Smu1	T	C	4: 40,745,567	D251G	probably damaging	Het
Ssh3	C	T	19: 4,262,559	R586H	probably benign	Het
Tomm40l	A	T	1: 171,221,211	L78H	probably damaging	Het
Vmn2r4	A	G	3: 64,389,367	S666P	probably damaging	Het

Other mutations in Gas2l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Gas2l3	APN	10	89413627	missense	probably benign	0.00
IGL01148:Gas2l3	APN	10	89413504	missense	probably benign	0.25
R0472:Gas2l3	UTSW	10	89426477	missense	probably damaging	1.00
R0578:Gas2l3	UTSW	10	89417075	missense	probably damaging	1.00
R0720:Gas2l3	UTSW	10	89413943	missense	probably benign	0.00
R1386:Gas2l3	UTSW	10	89414353	missense	possibly damaging	0.77
R1470:Gas2l3	UTSW	10	89413934	missense	probably benign
R1470:Gas2l3	UTSW	10	89413934	missense	probably benign
R1530:Gas2l3	UTSW	10	89433769	missense	probably benign	0.02
R1733:Gas2l3	UTSW	10	89414265	missense	probably damaging	1.00
R1772:Gas2l3	UTSW	10	89417014	unclassified	probably benign
R1840:Gas2l3	UTSW	10	89422251	missense	possibly damaging	0.79
R2168:Gas2l3	UTSW	10	89414098	missense	probably benign	0.01
R3082:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4639:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4641:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4642:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4643:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4644:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4645:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4809:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4810:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4820:Gas2l3	UTSW	10	89417045	missense	probably damaging	1.00
R4852:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4853:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4855:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4865:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4900:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4906:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4926:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R4946:Gas2l3	UTSW	10	89413772	missense	probably benign
R5072:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R5073:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R5074:Gas2l3	UTSW	10	89430958	small deletion	probably benign
R5137:Gas2l3	UTSW	10	89413975	missense	probably damaging	1.00
R5579:Gas2l3	UTSW	10	89414066	missense	probably benign
R5919:Gas2l3	UTSW	10	89417055	missense	probably damaging	1.00
R6573:Gas2l3	UTSW	10	89422210	splice site	probably null
R6763:Gas2l3	UTSW	10	89413369	missense	probably benign	0.00
R6961:Gas2l3	UTSW	10	89413291	missense	probably benign	0.00
R7491:Gas2l3	UTSW	10	89413901	missense	probably benign	0.02
R7707:Gas2l3	UTSW	10	89414358	missense	probably damaging	1.00
R7806:Gas2l3	UTSW	10	89413370	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGGCCTGACTCTGACATTC -3'
(R):5'- TGACATCAACCACTGTATTCAATGC -3'

Sequencing Primer
(F):5'- GGCCTGACTCTGACATTCACTGAG -3'
(R):5'- ACAATTTTGCTTATTCTGGATGGTC -3'

Posted On

2015-02-05