Mutagenetix > Incidental Mutation

Incidental Mutation 'R0018:Gsx2'

19074

Institutional Source

Beutler Lab

Gene Symbol

Gsx2

Ensembl Gene

ENSMUSG00000035946

Gene Name

GS homeobox 2

Synonyms

Gsh2, Gsh-2

MMRRC Submission

038313-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75236262-75238554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75237828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 260 (K260R)

Ref Sequence

ENSEMBL: ENSMUSP00000036625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040477] [ENSMUST00000160104]

AlphaFold

P31316

Predicted Effect

probably damaging
Transcript: ENSMUST00000040477
AA Change: K260R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036625
Gene: ENSMUSG00000035946
AA Change: K260R

Domain	Start	End	E-Value	Type
low complexity region	76	101	N/A	INTRINSIC
low complexity region	124	172	N/A	INTRINSIC
HOX	203	265	9.33e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160104

SMART Domains

Protein: ENSMUSP00000123712
Gene: ENSMUSG00000035946

Domain	Start	End	E-Value	Type
low complexity region	76	101	N/A	INTRINSIC

Meta Mutation Damage Score

0.1910

Coding Region Coverage

1x: 82.8%
3x: 76.3%
10x: 59.3%
20x: 41.5%

Validation Efficiency

90% (80/89)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation die within 24 hrs after birth, displaying an early misspecification of precursors in the lateral ganglionic eminence that leads to disruptions in striatal and olfactory bulb development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b4	T	A	1: 133,645,609 (GRCm39)	I982F	probably damaging	Het
BC024139	G	A	15: 76,005,087 (GRCm39)	Q592*	probably null	Het
Capn7	T	A	14: 31,076,069 (GRCm39)	C290*	probably null	Het
Celsr1	T	A	15: 85,915,243 (GRCm39)	D910V	possibly damaging	Het
Cpne2	T	A	8: 95,282,681 (GRCm39)	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 25,785,375 (GRCm39)	R248H	probably benign	Het
Dennd1a	T	A	2: 37,748,472 (GRCm39)	T336S	possibly damaging	Het
Drc7	A	G	8: 95,800,862 (GRCm39)	Y628C	probably damaging	Het
Dse	A	G	10: 34,029,464 (GRCm39)	V542A	probably benign	Het
Gria4	A	G	9: 4,432,843 (GRCm39)	L780P	possibly damaging	Het
Kat6a	A	G	8: 23,419,289 (GRCm39)	D684G	possibly damaging	Het
Kif27	T	G	13: 58,435,867 (GRCm39)	I1309L	probably benign	Het
Me2	A	T	18: 73,924,923 (GRCm39)	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,779,007 (GRCm39)	T1588S	probably benign	Het
Neu4	T	A	1: 93,953,060 (GRCm39)	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,071,423 (GRCm39)	Q895L	possibly damaging	Het
Nudt8	C	T	19: 4,051,152 (GRCm39)		probably benign	Het
Ppfia2	A	G	10: 106,678,647 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,544,406 (GRCm39)	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,082,951 (GRCm39)		probably benign	Het
Pus3	A	G	9: 35,477,920 (GRCm39)	D384G	probably benign	Het
Rasa2	A	G	9: 96,454,016 (GRCm39)	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,558,360 (GRCm39)	D142G	probably damaging	Het
Slc13a5	T	C	11: 72,157,301 (GRCm39)	I31V	probably benign	Het
Slc15a4	A	T	5: 127,679,074 (GRCm39)	I422N	probably damaging	Het
Slc26a6	G	T	9: 108,736,121 (GRCm39)		probably null	Het
Ufm1	A	T	3: 53,766,617 (GRCm39)	I79N	probably benign	Het
Xdh	C	T	17: 74,232,020 (GRCm39)	R230H	probably benign	Het
Zfp418	A	T	7: 7,185,449 (GRCm39)	S471C	probably benign	Het

Other mutations in Gsx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Gsx2	APN	5	75,236,452 (GRCm39)	missense	probably damaging	1.00
R0018:Gsx2	UTSW	5	75,237,828 (GRCm39)	missense	probably damaging	1.00
R0265:Gsx2	UTSW	5	75,237,729 (GRCm39)	missense	probably damaging	1.00
R0496:Gsx2	UTSW	5	75,237,726 (GRCm39)	missense	probably benign	0.26
R1017:Gsx2	UTSW	5	75,237,923 (GRCm39)	missense	probably damaging	1.00
R2372:Gsx2	UTSW	5	75,237,713 (GRCm39)	missense	probably damaging	1.00
R7226:Gsx2	UTSW	5	75,236,621 (GRCm39)	nonsense	probably null
R7362:Gsx2	UTSW	5	75,236,765 (GRCm39)	missense	possibly damaging	0.92
R7504:Gsx2	UTSW	5	75,237,060 (GRCm39)	splice site	probably null
R8153:Gsx2	UTSW	5	75,237,716 (GRCm39)	missense	probably damaging	1.00
R8725:Gsx2	UTSW	5	75,236,755 (GRCm39)	missense	probably benign	0.00
R8852:Gsx2	UTSW	5	75,236,996 (GRCm39)	missense	possibly damaging	0.81

Posted On

2013-03-25