Mutagenetix > Incidental Mutation

Incidental Mutation 'R2405:Gbx2'

247938

Institutional Source

Beutler Lab

Gene Symbol

Gbx2

Ensembl Gene

ENSMUSG00000034486

Gene Name

gastrulation brain homeobox 2

Synonyms

MMoxA, Stra7, Gbx-2

MMRRC Submission

040371-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2405 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

89855684-89858898 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 89858630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036954]

AlphaFold

P48031

Predicted Effect

probably benign
Transcript: ENSMUST00000036954

SMART Domains

Protein: ENSMUSP00000048508
Gene: ENSMUSG00000034486

Domain	Start	End	E-Value	Type
low complexity region	56	82	N/A	INTRINSIC
low complexity region	234	245	N/A	INTRINSIC
HOX	247	309	7.58e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189763

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with vascular, neurological, skeletal, and craniofacial defects. [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
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abl1	T	C	2: 31,690,986 (GRCm39)	L835P	possibly damaging	Het
Ascc3	T	A	10: 50,607,774 (GRCm39)	V1426D	probably damaging	Het
Ccny	A	G	18: 9,353,480 (GRCm39)	Y98H	probably benign	Het
Ccser2	G	A	14: 36,660,626 (GRCm39)	T509M	probably damaging	Het
Crnkl1	A	T	2: 145,770,077 (GRCm39)	Y255*	probably null	Het
Cyp2d11	C	T	15: 82,273,467 (GRCm39)	S468N	possibly damaging	Het
Dnah7b	C	A	1: 46,402,114 (GRCm39)	T3983N	probably benign	Het
Ebf1	T	A	11: 44,882,349 (GRCm39)	M427K	probably damaging	Het
Fxr1	T	A	3: 34,116,003 (GRCm39)	S438T	probably damaging	Het
Gabrr1	A	T	4: 33,157,110 (GRCm39)	D209V	probably damaging	Het
Gng14	A	G	8: 85,794,270 (GRCm39)	I56T	possibly damaging	Het
Gulo	A	G	14: 66,228,477 (GRCm39)		probably null	Het
Hhla1	A	T	15: 65,808,160 (GRCm39)	L295*	probably null	Het
Hmcn1	T	A	1: 150,736,092 (GRCm39)	I126L	probably damaging	Het
Hpse	A	G	5: 100,856,637 (GRCm39)	S121P	possibly damaging	Het
Inpp5d	A	G	1: 87,627,451 (GRCm39)	H321R	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kdm5b	T	A	1: 134,536,754 (GRCm39)	M658K	probably damaging	Het
Kidins220	A	T	12: 25,061,508 (GRCm39)	E875V	probably damaging	Het
Lrrc37	T	C	11: 103,511,810 (GRCm39)	M53V	unknown	Het
Nlrp4b	A	G	7: 10,448,655 (GRCm39)	E286G	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Pde3a	A	T	6: 141,426,968 (GRCm39)	I710F	probably damaging	Het
Phb1	T	C	11: 95,566,094 (GRCm39)	I126T	probably benign	Het
Ppp4r1	C	T	17: 66,118,341 (GRCm39)	T164I	possibly damaging	Het
Psmc1	G	A	12: 100,086,362 (GRCm39)	R333Q	probably benign	Het
Pygb	A	G	2: 150,662,695 (GRCm39)	Y554C	probably benign	Het
Ror2	G	A	13: 53,284,980 (GRCm39)	P144L	possibly damaging	Het
Serpina3a	A	T	12: 104,087,577 (GRCm39)	M357L	possibly damaging	Het
Serpinb9e	T	A	13: 33,444,063 (GRCm39)	M361K	probably benign	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc15a2	G	A	16: 36,572,199 (GRCm39)	Q691*	probably null	Het
Slc25a25	C	T	2: 32,307,731 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,215,523 (GRCm39)	N9S	probably benign	Het
Slc4a2	A	G	5: 24,640,599 (GRCm39)	T665A	probably damaging	Het
Spef2	C	A	15: 9,626,120 (GRCm39)	E1149*	probably null	Het
Tmem179	A	G	12: 112,468,347 (GRCm39)	W45R	probably damaging	Het
Tmpo	C	A	10: 90,999,216 (GRCm39)	K190N	probably damaging	Het
Triml1	T	C	8: 43,583,320 (GRCm39)	Y427C	probably damaging	Het
Trpm2	A	G	10: 77,770,558 (GRCm39)	L720P	probably damaging	Het
Vmn1r60	A	G	7: 5,547,912 (GRCm39)	Y63H	probably benign	Het
Vmn2r96	T	A	17: 18,818,102 (GRCm39)	C560S	probably damaging	Het
Vps35l	G	C	7: 118,391,818 (GRCm39)	A410P	probably damaging	Het
Zdhhc13	A	G	7: 48,472,478 (GRCm39)		probably null	Het

Other mutations in Gbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Gbx2	APN	1	89,856,559 (GRCm39)	missense	probably damaging	1.00
IGL01804:Gbx2	APN	1	89,856,703 (GRCm39)	missense	probably benign	0.00
IGL02345:Gbx2	APN	1	89,856,698 (GRCm39)	missense	probably benign	0.00
IGL02370:Gbx2	APN	1	89,856,871 (GRCm39)	splice site	probably benign
IGL02957:Gbx2	APN	1	89,858,375 (GRCm39)	missense	probably benign	0.02
IGL02959:Gbx2	APN	1	89,856,517 (GRCm39)	missense	probably damaging	1.00
R2280:Gbx2	UTSW	1	89,858,359 (GRCm39)	missense	probably damaging	1.00
R2860:Gbx2	UTSW	1	89,856,853 (GRCm39)	missense	probably damaging	0.97
R2861:Gbx2	UTSW	1	89,856,853 (GRCm39)	missense	probably damaging	0.97
R5384:Gbx2	UTSW	1	89,856,635 (GRCm39)	missense	probably damaging	1.00
R5587:Gbx2	UTSW	1	89,860,844 (GRCm39)	unclassified	probably benign
R5747:Gbx2	UTSW	1	89,856,437 (GRCm39)	missense	probably damaging	0.98
R5956:Gbx2	UTSW	1	89,860,908 (GRCm39)	unclassified	probably benign
R6053:Gbx2	UTSW	1	89,858,159 (GRCm39)	missense	probably benign	0.00
R6633:Gbx2	UTSW	1	89,856,442 (GRCm39)	frame shift	probably null
R7479:Gbx2	UTSW	1	89,858,373 (GRCm39)	missense	probably benign	0.02
R7505:Gbx2	UTSW	1	89,856,455 (GRCm39)	missense	probably benign	0.26
R7768:Gbx2	UTSW	1	89,856,706 (GRCm39)	missense	probably benign	0.09
R8184:Gbx2	UTSW	1	89,856,550 (GRCm39)	missense	probably damaging	1.00
R8998:Gbx2	UTSW	1	89,856,745 (GRCm39)	missense	possibly damaging	0.79
R9599:Gbx2	UTSW	1	89,856,635 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCATCATCATCAGCGACGG -3'
(R):5'- ATTTAAAGGTGCTGGCGGC -3'

Sequencing Primer
(F):5'- ATCAGCGACGGCGGGAAC -3'
(R):5'- ACGACGGACTGCAGGAC -3'

Posted On

2014-11-11