Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00321:Gas2l3'

13491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gas2l3

Ensembl Gene

ENSMUSG00000074802

Gene Name

growth arrest-specific 2 like 3

Synonyms

LOC237436, 8430435B07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

IGL00321

Quality Score

Status

Chromosome

Chromosomal Location

89244685-89279829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89249489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 543 (L543P)

Ref Sequence

ENSEMBL: ENSMUSP00000100935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099374] [ENSMUST00000105298] [ENSMUST00000220128]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099374
AA Change: L543P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802
AA Change: L543P

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
AA Change: L543P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802
AA Change: L543P

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: ENSMUST00000220128

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,078,418 (GRCm39)	I602T	probably benign	Het
Adam39	A	G	8: 41,279,783 (GRCm39)	R725G	possibly damaging	Het
Arid2	A	G	15: 96,186,970 (GRCm39)	E74G	probably damaging	Het
Carf	T	A	1: 60,164,001 (GRCm39)		probably benign	Het
Cit	A	T	5: 115,984,524 (GRCm39)	Q32L	probably damaging	Het
Dennd4b	A	G	3: 90,178,514 (GRCm39)	T526A	possibly damaging	Het
Dnhd1	A	G	7: 105,327,202 (GRCm39)	E717G	probably damaging	Het
Ercc6	T	A	14: 32,290,029 (GRCm39)	I968N	probably damaging	Het
Fcrl1	A	T	3: 87,296,942 (GRCm39)	Y297F	probably damaging	Het
Hid1	A	T	11: 115,249,895 (GRCm39)	D84E	probably benign	Het
Ifit1bl2	C	T	19: 34,597,319 (GRCm39)	S99N	probably benign	Het
Kpna3	A	G	14: 61,629,302 (GRCm39)		probably benign	Het
Myadm	C	A	7: 3,345,739 (GRCm39)	P167Q	possibly damaging	Het
Ociad1	C	T	5: 73,461,886 (GRCm39)		probably benign	Het
Or2t43	A	C	11: 58,457,593 (GRCm39)	Y193D	probably damaging	Het
Pcdh11x	A	T	X: 119,502,265 (GRCm39)	K1029N	probably benign	Het
Pcdhb11	A	G	18: 37,555,026 (GRCm39)	T119A	probably benign	Het
Phldb2	T	C	16: 45,592,617 (GRCm39)	R926G	probably damaging	Het
Ppwd1	A	G	13: 104,353,651 (GRCm39)	F369S	probably damaging	Het
Rreb1	T	A	13: 38,100,472 (GRCm39)	M201K	probably benign	Het
Ryr1	A	T	7: 28,802,235 (GRCm39)	I795N	probably damaging	Het
Slc3a1	T	C	17: 85,368,261 (GRCm39)	W510R	probably damaging	Het
Slc44a5	T	C	3: 153,968,576 (GRCm39)	L589P	probably damaging	Het
Tfr2	A	G	5: 137,572,717 (GRCm39)	D176G	probably null	Het
Tom1	T	A	8: 75,778,802 (GRCm39)	S24T	probably benign	Het
Vmn2r66	T	A	7: 84,656,299 (GRCm39)	Q239L	probably benign	Het
Ythdc2	A	G	18: 44,993,040 (GRCm39)	T149A	probably benign	Het
Zc3h3	A	G	15: 75,651,162 (GRCm39)	I686T	probably damaging	Het

Other mutations in Gas2l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Gas2l3	APN	10	89,249,366 (GRCm39)	missense	probably benign	0.25
R0472:Gas2l3	UTSW	10	89,262,339 (GRCm39)	missense	probably damaging	1.00
R0578:Gas2l3	UTSW	10	89,252,937 (GRCm39)	missense	probably damaging	1.00
R0720:Gas2l3	UTSW	10	89,249,805 (GRCm39)	missense	probably benign	0.00
R1386:Gas2l3	UTSW	10	89,250,215 (GRCm39)	missense	possibly damaging	0.77
R1470:Gas2l3	UTSW	10	89,249,796 (GRCm39)	missense	probably benign
R1470:Gas2l3	UTSW	10	89,249,796 (GRCm39)	missense	probably benign
R1530:Gas2l3	UTSW	10	89,269,631 (GRCm39)	missense	probably benign	0.02
R1733:Gas2l3	UTSW	10	89,250,127 (GRCm39)	missense	probably damaging	1.00
R1772:Gas2l3	UTSW	10	89,252,876 (GRCm39)	unclassified	probably benign
R1840:Gas2l3	UTSW	10	89,258,113 (GRCm39)	missense	possibly damaging	0.79
R2168:Gas2l3	UTSW	10	89,249,960 (GRCm39)	missense	probably benign	0.01
R3082:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R3083:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4639:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4641:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4642:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4643:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4644:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4645:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4809:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4810:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4820:Gas2l3	UTSW	10	89,252,907 (GRCm39)	missense	probably damaging	1.00
R4852:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4853:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4855:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4865:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4900:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4906:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4926:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R4946:Gas2l3	UTSW	10	89,249,634 (GRCm39)	missense	probably benign
R5072:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R5073:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R5074:Gas2l3	UTSW	10	89,266,820 (GRCm39)	small deletion	probably benign
R5137:Gas2l3	UTSW	10	89,249,837 (GRCm39)	missense	probably damaging	1.00
R5579:Gas2l3	UTSW	10	89,249,928 (GRCm39)	missense	probably benign
R5919:Gas2l3	UTSW	10	89,252,917 (GRCm39)	missense	probably damaging	1.00
R6573:Gas2l3	UTSW	10	89,258,072 (GRCm39)	splice site	probably null
R6763:Gas2l3	UTSW	10	89,249,231 (GRCm39)	missense	probably benign	0.00
R6961:Gas2l3	UTSW	10	89,249,153 (GRCm39)	missense	probably benign	0.00
R7491:Gas2l3	UTSW	10	89,249,763 (GRCm39)	missense	probably benign	0.02
R7707:Gas2l3	UTSW	10	89,250,220 (GRCm39)	missense	probably damaging	1.00
R7806:Gas2l3	UTSW	10	89,249,232 (GRCm39)	missense	probably benign	0.00
R8167:Gas2l3	UTSW	10	89,262,342 (GRCm39)	missense	probably damaging	1.00
R8781:Gas2l3	UTSW	10	89,266,841 (GRCm39)	missense	probably damaging	0.99
R8862:Gas2l3	UTSW	10	89,250,282 (GRCm39)	missense	probably damaging	0.97
R9063:Gas2l3	UTSW	10	89,249,558 (GRCm39)	missense	probably benign
R9119:Gas2l3	UTSW	10	89,249,319 (GRCm39)	missense	possibly damaging	0.87
R9258:Gas2l3	UTSW	10	89,262,315 (GRCm39)	missense	probably benign	0.18
R9574:Gas2l3	UTSW	10	89,258,135 (GRCm39)	missense	probably damaging	1.00
R9634:Gas2l3	UTSW	10	89,249,943 (GRCm39)	missense	probably benign	0.00
R9640:Gas2l3	UTSW	10	89,266,774 (GRCm39)	missense	probably damaging	1.00
R9702:Gas2l3	UTSW	10	89,249,943 (GRCm39)	missense	probably benign	0.00
R9703:Gas2l3	UTSW	10	89,249,943 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06