Mutagenetix > Incidental Mutation

Incidental Mutation 'R7491:Gas2l3'

580776

Institutional Source

Beutler Lab

Gene Symbol

Gas2l3

Ensembl Gene

ENSMUSG00000074802

Gene Name

growth arrest-specific 2 like 3

Synonyms

LOC237436, 8430435B07Rik

MMRRC Submission

045565-MU

Accession Numbers

Essential gene?

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

Stock #

R7491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89244685-89279829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89249763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 452 (S452P)

Ref Sequence

ENSEMBL: ENSMUSP00000096973 (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: S452P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802
AA Change: S452P

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: S452P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802
AA Change: S452P

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	T	2: 68,445,099 (GRCm39)		probably null	Het
5730522E02Rik	A	T	11: 25,719,014 (GRCm39)	V44E	unknown	Het
Adcy9	A	G	16: 4,236,673 (GRCm39)	L246S	possibly damaging	Het
Adk	C	T	14: 21,284,997 (GRCm39)	H123Y	probably damaging	Het
Adra1b	T	A	11: 43,726,794 (GRCm39)	D41V	probably benign	Het
Ankib1	T	G	5: 3,751,911 (GRCm39)	K710Q	probably damaging	Het
Aoc2	T	A	11: 101,219,203 (GRCm39)	V542D	probably benign	Het
Arhgef28	T	C	13: 98,081,194 (GRCm39)	N1221S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bmal1	T	C	7: 112,898,631 (GRCm39)	V353A	probably benign	Het
Cacna1a	C	A	8: 85,285,922 (GRCm39)	R856S	possibly damaging	Het
Cacna1c	T	C	6: 118,590,304 (GRCm39)	M1559V		Het
Cdh10	G	C	15: 19,013,445 (GRCm39)	E682Q	probably damaging	Het
Celsr1	T	C	15: 85,916,719 (GRCm39)	D418G	possibly damaging	Het
Cfap44	T	C	16: 44,291,111 (GRCm39)	L1537P	probably damaging	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Col2a1	C	T	15: 97,874,040 (GRCm39)	V1449I	not run	Het
Cpt2	A	G	4: 107,764,339 (GRCm39)	F475S	probably damaging	Het
Cpxm1	T	C	2: 130,235,487 (GRCm39)	T502A	probably benign	Het
Creb3l2	G	T	6: 37,356,794 (GRCm39)	T91N	probably benign	Het
D630045J12Rik	A	T	6: 38,119,601 (GRCm39)	S1714T	possibly damaging	Het
Dennd1c	C	A	17: 57,379,379 (GRCm39)	V246F	probably damaging	Het
Dse	A	G	10: 34,028,561 (GRCm39)	V843A	probably benign	Het
Ern2	C	A	7: 121,769,756 (GRCm39)	W810L	probably damaging	Het
Fer1l6	G	A	15: 58,472,281 (GRCm39)	D906N	probably damaging	Het
Fry	A	G	5: 150,389,791 (GRCm39)	E140G		Het
Galnt7	A	G	8: 58,005,552 (GRCm39)	V227A	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm826	A	T	2: 160,153,942 (GRCm39)	S34T	unknown	Het
Gzmk	A	T	13: 113,308,535 (GRCm39)	I222N	probably benign	Het
Hivep3	A	T	4: 119,956,027 (GRCm39)	T1448S	probably benign	Het
Hk1	T	C	10: 62,131,524 (GRCm39)	D278G	probably damaging	Het
Ipo7	C	A	7: 109,638,401 (GRCm39)	Q223K	possibly damaging	Het
Itga9	T	A	9: 118,598,179 (GRCm39)	I571N	probably damaging	Het
Itgb6	T	C	2: 60,450,720 (GRCm39)	Y573C	probably damaging	Het
Kmt2c	T	A	5: 25,489,562 (GRCm39)	H4459L	probably damaging	Het
Limch1	T	G	5: 67,211,580 (GRCm39)	S894R	probably damaging	Het
Lrit2	A	T	14: 36,790,867 (GRCm39)	Q182L	possibly damaging	Het
Mlph	A	T	1: 90,867,100 (GRCm39)	H374L	possibly damaging	Het
Mmrn2	A	G	14: 34,121,374 (GRCm39)	H748R	probably damaging	Het
Mrpl58	T	C	11: 115,301,092 (GRCm39)	V134A	possibly damaging	Het
Nae1	A	T	8: 105,244,871 (GRCm39)	D353E	probably benign	Het
Naip5	A	C	13: 100,353,579 (GRCm39)	F1227V	probably benign	Het
Nln	A	T	13: 104,205,831 (GRCm39)	F108I	probably damaging	Het
Nop16	C	T	13: 54,736,417 (GRCm39)	V94I	probably benign	Het
Nt5c1b	A	T	12: 10,424,903 (GRCm39)	T150S	probably benign	Het
Or10d4b	T	G	9: 39,535,268 (GRCm39)	I281S	possibly damaging	Het
Pcdha4	T	C	18: 37,087,689 (GRCm39)	V624A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,483 (GRCm39)	I513T	probably benign	Het
Prc1	A	T	7: 79,959,239 (GRCm39)		probably null	Het
Prpf4	T	A	4: 62,336,113 (GRCm39)	F280Y	probably damaging	Het
Ptprd	T	C	4: 76,051,392 (GRCm39)	E43G	probably benign	Het
Pum1	T	A	4: 130,446,485 (GRCm39)	D181E	probably benign	Het
Rab7	A	G	6: 87,990,624 (GRCm39)	S17P	probably damaging	Het
Rgs1	T	C	1: 144,121,134 (GRCm39)	Y179C	probably damaging	Het
Rrm1	T	C	7: 102,103,764 (GRCm39)	C238R	probably damaging	Het
Rusc2	T	A	4: 43,426,528 (GRCm39)	L1484Q	probably damaging	Het
Sall3	C	T	18: 81,015,920 (GRCm39)	M669I	probably benign	Het
Saxo1	A	C	4: 86,363,644 (GRCm39)	F280V	probably benign	Het
Scn2a	T	C	2: 65,532,352 (GRCm39)	S655P	probably damaging	Het
Senp6	G	T	9: 80,031,010 (GRCm39)	E571*	probably null	Het
Sin3b	C	G	8: 73,473,069 (GRCm39)	T463S	probably damaging	Het
Sirt7	C	A	11: 120,509,837 (GRCm39)	R349L	probably benign	Het
Skor1	T	C	9: 63,053,730 (GRCm39)	T80A	probably damaging	Het
Slc12a9	C	A	5: 137,321,082 (GRCm39)	A478S	probably damaging	Het
Slc25a23	T	A	17: 57,359,822 (GRCm39)	R310*	probably null	Het
Slco6c1	A	T	1: 97,055,579 (GRCm39)	H107Q	probably benign	Het
Slit2	A	G	5: 48,377,336 (GRCm39)	E455G	probably benign	Het
Smo	G	C	6: 29,736,119 (GRCm39)	G37A	probably damaging	Het
St6galnac1	T	C	11: 116,660,010 (GRCm39)	K101R	probably benign	Het
Stat1	C	A	1: 52,191,530 (GRCm39)	N628K	probably benign	Het
Syn2	A	T	6: 115,231,615 (GRCm39)	Y302F	probably benign	Het
Tapt1	T	G	5: 44,345,978 (GRCm39)	Q324P	probably damaging	Het
Tgoln1	C	T	6: 72,593,403 (GRCm39)	A26T	unknown	Het
Timm13	T	A	10: 80,736,378 (GRCm39)	T43S	probably benign	Het
Tnfrsf19	G	A	14: 61,242,654 (GRCm39)	P77S	possibly damaging	Het
Trem3	T	G	17: 48,564,969 (GRCm39)	F157V	probably benign	Het
Trgv3	T	A	13: 19,427,016 (GRCm39)	M1K	probably null	Het
Trim33	T	A	3: 103,233,464 (GRCm39)	S420T	probably benign	Het
Trip11	T	C	12: 101,851,694 (GRCm39)	K790R	probably damaging	Het
Trnt1	A	G	6: 106,755,865 (GRCm39)	T307A	probably benign	Het
Tshz1	T	C	18: 84,033,766 (GRCm39)	Y214C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,827 (GRCm39)	T117S	probably benign	Het
Vmn2r45	A	G	7: 8,484,342 (GRCm39)	Y488H	probably benign	Het
Vwa8	A	T	14: 79,320,254 (GRCm39)	K1088N	probably benign	Het
Wdr35	T	C	12: 9,036,000 (GRCm39)	V257A	probably benign	Het
Zfp189	T	A	4: 49,521,569 (GRCm39)	S3T	probably benign	Het
Zscan22	G	A	7: 12,640,833 (GRCm39)	C359Y	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,812 (GRCm39)	R283*	probably null	Het

Other mutations in Gas2l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Gas2l3	APN	10	89,249,489 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCTCCGGTTTTAGAACTG -3'
(R):5'- GACATCTTTGAAGGACGCAGC -3'

Sequencing Primer
(F):5'- TTAGAACTGGGCTTGGTCAC -3'
(R):5'- CAGGGTCTAAACCAAGCA -3'

Posted On

2019-10-17