Mutagenetix > Incidental Mutations

Incidental Mutation 'R4642:Gas2l3'

351687

Institutional Source

Beutler Lab

Gene Symbol

Gas2l3

Ensembl Gene

ENSMUSG00000074802

Gene Name

growth arrest-specific 2 like 3

Synonyms

8430435B07Rik, LOC237436

MMRRC Submission

041904-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R4642 (G1)

Quality Score

217

Status

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (46/48)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	T	C	8: 79,689,353	T387A	probably damaging	Het
Acaca	A	T	11: 84,280,461	T3S	probably damaging	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Cacna1g	A	G	11: 94,418,094	I1631T	probably damaging	Het
Camk1g	T	A	1: 193,356,359	D85V	probably damaging	Het
Caskin1	G	A	17: 24,506,628	S1296N	probably benign	Het
Ccbe1	A	T	18: 66,291,583		probably benign	Het
Ccdc184	T	G	15: 98,168,656	V114G	probably benign	Het
Cpxm2	C	T	7: 132,070,881	R313H	probably benign	Het
Crebrf	G	T	17: 26,743,061	E377D	probably benign	Het
Dcstamp	T	C	15: 39,754,722	F176L	probably benign	Het
Dnah2	T	C	11: 69,496,559	D947G	probably benign	Het
Erbb4	A	G	1: 68,250,632	I750T	probably damaging	Het
Gm16391	T	G	17: 76,284,831		noncoding transcript	Het
Gm973	A	T	1: 59,558,114	E434D	probably damaging	Het
Hdac7	T	C	15: 97,806,516	E491G	probably damaging	Het
Hyal5	A	G	6: 24,876,622	N165D	probably benign	Het
Ly86	A	T	13: 37,376,901	R79S	possibly damaging	Het
Mapk7	A	G	11: 61,490,901	I13T	probably damaging	Het
Medag	T	A	5: 149,411,979	M1K	probably null	Het
Myh9	T	C	15: 77,761,951	D1944G	probably benign	Het
Nadk2	T	C	15: 9,092,721	W206R	possibly damaging	Het
Olfr830	T	A	9: 18,876,167	M280K	probably damaging	Het
Pcdhb11	T	A	18: 37,421,968	F117Y	probably benign	Het
Pdzd8	C	T	19: 59,305,230	E396K	probably damaging	Het
Piezo1	T	A	8: 122,495,454	Y541F	probably damaging	Het
Polr3h	T	C	15: 81,922,466	I51V	probably benign	Het
Prune2	T	C	19: 17,020,655		probably null	Het
Pyroxd1	C	G	6: 142,354,741	S199*	probably null	Het
Rars2	T	G	4: 34,656,229	V461G	probably damaging	Het
Rasgrp3	T	C	17: 75,498,448	C145R	possibly damaging	Het
Ryr1	T	C	7: 29,086,038	T1743A	possibly damaging	Het
Sac3d1	G	A	19: 6,116,404	A325V	possibly damaging	Het
Shank1	A	T	7: 44,313,141	D93V	unknown	Het
Smg1	T	C	7: 118,154,264		probably benign	Het
Tbl1xr1	A	T	3: 22,188,420	N38I	probably damaging	Het
Ufc1	A	G	1: 171,289,894	I82T	probably benign	Het
Uggt2	A	T	14: 119,034,935	M434K	probably benign	Het
Unc80	G	A	1: 66,671,714		probably null	Het
Zan	T	A	5: 137,464,188	T910S	unknown	Het
Zfp64	A	G	2: 168,934,931	C256R	probably benign	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
R3083: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
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
R8167:Gas2l3	UTSW	10	89426480	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTGACTCTGACATTCACTG -3'
(R):5'- GACATCAACCACTGTATTCAATGC -3'

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

Posted On

2015-10-08