Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02656:Gas2'

302338

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gas2

Ensembl Gene

ENSMUSG00000030498

Gene Name

growth arrest specific 2

Synonyms

Gas-2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

51862015-51994975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51943744 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 191 (S191P)

Ref Sequence

ENSEMBL: ENSMUSP00000146537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051912] [ENSMUST00000107591] [ENSMUST00000129604] [ENSMUST00000145049] [ENSMUST00000208711]

Predicted Effect

probably benign
Transcript: ENSMUST00000051912
AA Change: S191P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053514
Gene: ENSMUSG00000030498
AA Change: S191P

Domain	Start	End	E-Value	Type
CH	37	153	5.69e-15	SMART
low complexity region	167	178	N/A	INTRINSIC
low complexity region	181	198	N/A	INTRINSIC
GAS2	201	274	5.07e-52	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107589

SMART Domains

Protein: ENSMUSP00000103215
Gene: ENSMUSG00000030498

Domain	Start	End	E-Value	Type
CH	37	153	5.69e-15	SMART
low complexity region	167	178	N/A	INTRINSIC
low complexity region	181	198	N/A	INTRINSIC
Pfam:GAS2	201	250	1.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107591
AA Change: S191P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103217
Gene: ENSMUSG00000030498
AA Change: S191P

Domain	Start	End	E-Value	Type
CH	37	153	5.69e-15	SMART
low complexity region	167	178	N/A	INTRINSIC
low complexity region	181	198	N/A	INTRINSIC
GAS2	201	274	5.07e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129604

Predicted Effect

probably benign
Transcript: ENSMUST00000145049

SMART Domains

Protein: ENSMUSP00000117367
Gene: ENSMUSG00000030498

Domain	Start	End	E-Value	Type
CH	37	153	5.69e-15	SMART
low complexity region	167	178	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155925

Predicted Effect

probably benign
Transcript: ENSMUST00000208711
AA Change: S191P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,702,240	A981D	possibly damaging	Het
Ccdc69	G	T	11: 55,052,437	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,430	D66E	probably damaging	Het
Ces2e	G	T	8: 104,927,056	R42I	possibly damaging	Het
Cib2	T	G	9: 54,545,898	D178A	probably damaging	Het
Cldn7	G	A	11: 69,967,008	V97I	probably benign	Het
Dok3	A	T	13: 55,528,480	I12N	probably damaging	Het
Fndc5	T	A	4: 129,139,446	V102E	probably damaging	Het
Herc6	T	A	6: 57,611,836		probably null	Het
Krt18	A	G	15: 102,030,922	T277A	probably benign	Het
Mpp3	A	G	11: 102,008,601	S365P	probably benign	Het
Msmo1	T	C	8: 64,727,872	T3A	probably benign	Het
Olfr1509	G	T	14: 52,450,709	A99S	possibly damaging	Het
Olfr1537	T	A	9: 39,238,160	E88V	probably benign	Het
Olfr394	A	G	11: 73,888,039	F111S	probably damaging	Het
Pex19	C	A	1: 172,130,685	A77E	probably benign	Het
Phf20l1	A	G	15: 66,629,827	D620G	probably damaging	Het
Prr5	A	G	15: 84,699,136	D105G	probably damaging	Het
Rab12	T	A	17: 66,506,054	K88M	probably damaging	Het
Rictor	T	C	15: 6,776,920	V673A	probably damaging	Het
Rps26	A	G	10: 128,625,257	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,285	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,682,447	M110T	probably damaging	Het
Sowahb	T	C	5: 93,043,247	S538G	probably benign	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Ssbp2	G	A	13: 91,669,752		probably benign	Het
Supt20	C	T	3: 54,708,395	R236W	probably damaging	Het
Tenm4	A	G	7: 96,885,433	D1791G	probably damaging	Het
Tgm6	G	A	2: 130,145,103	G497D	probably damaging	Het
Trim12c	C	T	7: 104,341,203	V356I	probably damaging	Het
Vwce	T	A	19: 10,664,352	I814K	probably benign	Het

Other mutations in Gas2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02250:Gas2	APN	7	51888038	missense	probably damaging	1.00
IGL02539:Gas2	APN	7	51897290	missense	possibly damaging	0.96
IGL02557:Gas2	APN	7	51887933	missense	probably damaging	0.98
R1702:Gas2	UTSW	7	51953341	splice site	probably null
R1826:Gas2	UTSW	7	51943673	missense	probably damaging	1.00
R2078:Gas2	UTSW	7	51897325	missense	probably benign	0.04
R3826:Gas2	UTSW	7	51936619	critical splice donor site	probably null
R5985:Gas2	UTSW	7	51943676	missense	probably damaging	1.00
R6510:Gas2	UTSW	7	51943712	missense	probably damaging	0.97
R7216:Gas2	UTSW	7	51897257	missense	possibly damaging	0.92
R7701:Gas2	UTSW	7	51993353	nonsense	probably null
R8178:Gas2	UTSW	7	51897278	missense	probably damaging	1.00

Posted On

2015-04-16