Mutagenetix > Incidental Mutations

Incidental Mutation 'R2168:Gas2l3'

235616

Institutional Source

Beutler Lab

Gene Symbol

Gas2l3

Ensembl Gene

ENSMUSG00000074802

Gene Name

growth arrest-specific 2 like 3

Synonyms

8430435B07Rik, LOC237436

MMRRC Submission

040171-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.359) question?

Stock #

R2168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89408823-89443967 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89414098 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 386 (V386A)

Ref Sequence

ENSEMBL: ENSMUSP00000100935 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099374
AA Change: V386A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802
AA Change: V386A

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: V386A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802
AA Change: V386A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	A	2: 127,878,781	I188N	probably damaging	Het
Akr1c14	T	C	13: 4,081,106	V266A	probably damaging	Het
Als2cl	C	A	9: 110,888,742	P301H	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Cpsf1	A	T	15: 76,603,737	N53K	possibly damaging	Het
Ctsll3	C	T	13: 60,800,935	G69R	possibly damaging	Het
F2	C	T	2: 91,628,348	R539Q	probably damaging	Het
Fam78b	G	A	1: 167,078,650	G126D	probably damaging	Het
Fancd2	A	G	6: 113,591,159	I1332V	possibly damaging	Het
Flg2	C	T	3: 93,201,937	S424L	probably damaging	Het
Fpr1	T	C	17: 17,877,209	T173A	possibly damaging	Het
Gdap2	A	C	3: 100,187,883	E269A	probably benign	Het
Gm16432	C	T	1: 178,015,911		probably benign	Het
Igf2bp2	T	A	16: 22,079,608		probably null	Het
Ipo11	T	C	13: 106,879,610		probably null	Het
Itpr2	G	T	6: 146,111,678	P2667Q	probably benign	Het
Itsn2	G	T	12: 4,633,044		probably benign	Het
Jakmip2	A	G	18: 43,565,930	L488P	probably damaging	Het
Lrp1b	A	T	2: 41,375,846	C248S	probably damaging	Het
Lrrc17	A	T	5: 21,575,048	D340V	probably damaging	Het
Megf9	T	C	4: 70,433,442	T481A	probably damaging	Het
Mrc1	T	C	2: 14,244,204	S184P	possibly damaging	Het
Msh4	A	T	3: 153,867,835	Y533*	probably null	Het
Mug1	A	G	6: 121,870,499	N612S	probably benign	Het
Nectin2	G	T	7: 19,730,614	S288R	probably damaging	Het
Neurog2	A	T	3: 127,634,105	H126L	probably damaging	Het
Nol10	A	T	12: 17,373,584	E310V	probably damaging	Het
Olfr1209	A	G	2: 88,910,178	S72P	probably damaging	Het
Olfr1366	T	G	13: 21,537,252	K251T	probably damaging	Het
Olfr191	T	A	16: 59,085,586	K299I	probably benign	Het
Olfr573-ps1	A	T	7: 102,942,471	F35L	probably benign	Het
Pappa	A	C	4: 65,156,445	D412A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,282	F490L	probably benign	Het
Pcsk1	T	A	13: 75,112,534		probably benign	Het
Plekhn1	T	A	4: 156,221,882	D577V	probably damaging	Het
Prrc2c	C	A	1: 162,710,334		probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Pzp	G	A	6: 128,488,047	T1288M	probably damaging	Het
Radil	A	C	5: 142,506,963	H63Q	probably benign	Het
Rai1	T	C	11: 60,187,596	S829P	probably benign	Het
Rd3	A	G	1: 191,983,527	I88V	probably damaging	Het
Rfesd	T	C	13: 76,008,125	D54G	probably damaging	Het
Rnf213	A	C	11: 119,415,070	K568T	probably damaging	Het
Scaper	T	A	9: 55,743,639	K913N	probably damaging	Het
Serpina3c	T	C	12: 104,149,369		probably null	Het
Serpinb6d	A	T	13: 33,666,374	K61N	probably benign	Het
Skint4	A	T	4: 112,086,986		probably null	Het
Sod1	T	C	16: 90,220,913	I19T	possibly damaging	Het
Stfa3	C	A	16: 36,450,680	G81*	probably null	Het
Ubr4	A	G	4: 139,410,649	T1106A	probably benign	Het
Uggt2	T	A	14: 119,019,505	N1106Y	probably damaging	Het
Vmn1r217	G	A	13: 23,114,544	Q63*	probably null	Het
Vmn2r-ps159	A	T	4: 156,338,378		noncoding transcript	Het
Vps13b	C	A	15: 35,792,188	P2201T	probably damaging	Het
Vps13b	C	A	15: 35,792,189	P2201Q	probably damaging	Het
Vps13d	G	T	4: 145,087,323		probably benign	Het
Zer1	A	G	2: 30,104,875	C503R	probably damaging	Het
Zfp369	T	C	13: 65,296,948	V635A	probably benign	Het
Zfp608	A	T	18: 54,898,053	Y938*	probably null	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
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
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'- AGACAGATCTCTTGAATTCTGGGC -3'
(R):5'- CAGAAATGAACCCTTTGTCAGC -3'

Sequencing Primer
(F):5'- ATCTCTTGAATTCTGGGCTGGAATAG -3'
(R):5'- GAACCCTTTGTCAGCAGTTAATATG -3'

Posted On

2014-10-01