Mutagenetix > Incidental Mutation

Incidental Mutation 'R7504:Gsx2'

585916

Institutional Source

Beutler Lab

Gene Symbol

Gsx2

Ensembl Gene

ENSMUSG00000035946

Gene Name

GS homeobox 2

Synonyms

Gsh-2, Gsh2

MMRRC Submission

045577-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7504 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75075601-75077893 bp(+) (GRCm38)

Type of Mutation

splice site (276 bp from exon)

DNA Base Change (assembly)

G to A at 75076399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123712 (fasta)

Gene Model

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

AlphaFold

P31316

Predicted Effect

probably null
Transcript: ENSMUST00000040477

SMART Domains

Protein: ENSMUSP00000036625
Gene: ENSMUSG00000035946

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 null
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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	G	17: 14,943,653 (GRCm38)	A14G	probably damaging	Het
6430573F11Rik	A	C	8: 36,512,155 (GRCm38)	N304T	probably benign	Het
Btn1a1	A	T	13: 23,461,716 (GRCm38)	M161K	probably benign	Het
Camkk2	G	A	5: 122,746,308 (GRCm38)	T350I	probably damaging	Het
Cdc42bpg	C	A	19: 6,306,784 (GRCm38)	D23E	possibly damaging	Het
Cdkn1a	T	C	17: 29,098,514 (GRCm38)	L36P	probably damaging	Het
Dek	A	G	13: 47,088,035 (GRCm38)	I351T	probably damaging	Het
Dst	T	C	1: 34,201,017 (GRCm38)	Y1816H	probably damaging	Het
Efl1	T	A	7: 82,683,049 (GRCm38)	N300K	probably damaging	Het
Ephx2	A	G	14: 66,101,617 (GRCm38)	Y294H	probably damaging	Het
Fancd2	T	A	6: 113,545,038 (GRCm38)	I198N	probably damaging	Het
Gm6502	G	T	5: 94,317,047 (GRCm38)	V431L	probably benign	Het
Grid1	G	T	14: 35,562,513 (GRCm38)	A738S	probably damaging	Het
Hc	G	A	2: 35,061,319 (GRCm38)	T22I	not run	Het
Hps1	T	C	19: 42,766,720 (GRCm38)	D261G	probably benign	Het
Ift80	T	C	3: 68,918,005 (GRCm38)	Y539C	probably damaging	Het
Insc	G	T	7: 114,791,298 (GRCm38)		probably null	Het
Isg15	T	C	4: 156,200,045 (GRCm38)	M9V	probably damaging	Het
Kalrn	A	G	16: 34,256,233 (GRCm38)	L695P	unknown	Het
Nars	A	C	18: 64,512,022 (GRCm38)	F52V	probably benign	Het
Nmt1	T	G	11: 103,056,459 (GRCm38)	F225V	probably damaging	Het
Olfr1352	A	G	10: 78,984,660 (GRCm38)	Y290C	possibly damaging	Het
Olfr143	A	T	9: 38,254,243 (GRCm38)	K272N	possibly damaging	Het
Olfr1495	T	A	19: 13,768,732 (GRCm38)	I130N	probably damaging	Het
Pbx3	T	C	2: 34,175,924 (GRCm38)	T385A	probably damaging	Het
Pcdhb11	A	T	18: 37,421,799 (GRCm38)	T61S	probably benign	Het
Rab11fip1	T	C	8: 27,152,953 (GRCm38)	E606G	possibly damaging	Het
Rnf216	A	G	5: 143,075,759 (GRCm38)	Y589H	probably benign	Het
Scara3	A	G	14: 65,931,331 (GRCm38)	I279T	possibly damaging	Het
Sdk2	T	A	11: 113,867,967 (GRCm38)	Y477F	possibly damaging	Het
Secisbp2l	T	C	2: 125,758,171 (GRCm38)	K415E	probably benign	Het
Stag1	C	T	9: 100,888,328 (GRCm38)	T639I	probably benign	Het
Sv2b	A	T	7: 75,136,383 (GRCm38)	F430I	probably benign	Het
Tenm2	C	T	11: 36,139,743 (GRCm38)	C743Y	probably damaging	Het
Tet2	C	A	3: 133,487,339 (GRCm38)	V445L	probably benign	Het
Tmem132c	T	C	5: 127,554,632 (GRCm38)	S652P	probably damaging	Het
Togaram1	A	G	12: 64,992,617 (GRCm38)	D1155G	possibly damaging	Het
Traip	T	C	9: 107,961,544 (GRCm38)	I169T	probably benign	Het
Usp45	T	G	4: 21,816,892 (GRCm38)	M374R	possibly damaging	Het
Vmn2r81	A	T	10: 79,268,332 (GRCm38)	H263L	probably benign	Het
Wdr95	T	C	5: 149,581,846 (GRCm38)	V364A	probably damaging	Het
Zfp128	G	A	7: 12,890,478 (GRCm38)	D258N	probably damaging	Het
Zfp335	G	A	2: 164,909,418 (GRCm38)	T76I	probably benign	Het
Zfp688	C	A	7: 127,419,311 (GRCm38)	C214F	probably damaging	Het
Zfp760	T	C	17: 21,722,674 (GRCm38)	S277P	probably damaging	Het

Other mutations in Gsx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Gsx2	APN	5	75,075,791 (GRCm38)	missense	probably damaging	1.00
R0018:Gsx2	UTSW	5	75,077,167 (GRCm38)	missense	probably damaging	1.00
R0018:Gsx2	UTSW	5	75,077,167 (GRCm38)	missense	probably damaging	1.00
R0265:Gsx2	UTSW	5	75,077,068 (GRCm38)	missense	probably damaging	1.00
R0496:Gsx2	UTSW	5	75,077,065 (GRCm38)	missense	probably benign	0.26
R1017:Gsx2	UTSW	5	75,077,262 (GRCm38)	missense	probably damaging	1.00
R2372:Gsx2	UTSW	5	75,077,052 (GRCm38)	missense	probably damaging	1.00
R7226:Gsx2	UTSW	5	75,075,960 (GRCm38)	nonsense	probably null
R7362:Gsx2	UTSW	5	75,076,104 (GRCm38)	missense	possibly damaging	0.92
R8153:Gsx2	UTSW	5	75,077,055 (GRCm38)	missense	probably damaging	1.00
R8725:Gsx2	UTSW	5	75,076,094 (GRCm38)	missense	probably benign	0.00
R8852:Gsx2	UTSW	5	75,076,335 (GRCm38)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CAAAAGCCAGTTCTCTCCCG -3'
(R):5'- TTCTCTGAAGTCTTGATCCAGG -3'

Sequencing Primer
(F):5'- CAGTTTTGCCCACGGGTGAG -3'
(R):5'- GAAGTCTTGATCCAGGTCTCCAAAG -3'

Posted On

2019-10-18