Mutagenetix > Incidental Mutation

Incidental Mutation 'R8184:Gbx2'

634756

Institutional Source

Beutler Lab

Gene Symbol

Gbx2

Ensembl Gene

ENSMUSG00000034486

Gene Name

gastrulation brain homeobox 2

Synonyms

MMoxA, Stra7, Gbx-2

MMRRC Submission

067607-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8184 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89855684-89858898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89856550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 280 (I280N)

Ref Sequence

ENSEMBL: ENSMUSP00000048508 (fasta)

Gene Model

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

AlphaFold

P48031

Predicted Effect

probably damaging
Transcript: ENSMUST00000036954
AA Change: I280N

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

SMART Domains

Protein: ENSMUSP00000048508
Gene: ENSMUSG00000034486
AA Change: I280N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	C	2: 93,686,086 (GRCm39)	K577R	probably benign	Het
Baiap3	A	G	17: 25,467,499 (GRCm39)	S368P	probably benign	Het
Brf2	T	C	8: 27,614,013 (GRCm39)	E391G	possibly damaging	Het
Casr	T	A	16: 36,330,108 (GRCm39)	M409L	probably benign	Het
Ccdc83	G	T	7: 89,873,286 (GRCm39)	Y356*	probably null	Het
Clec10a	A	T	11: 70,060,642 (GRCm39)	N166Y	probably damaging	Het
Copg1	T	C	6: 87,866,996 (GRCm39)	F77S	probably damaging	Het
Dnah7a	T	G	1: 53,666,194 (GRCm39)	K611T	probably benign	Het
Dock10	G	A	1: 80,530,469 (GRCm39)	H1025Y	probably damaging	Het
Dock6	A	T	9: 21,741,596 (GRCm39)	S876T	possibly damaging	Het
Dop1b	G	T	16: 93,573,881 (GRCm39)	R1701L	probably benign	Het
Dus4l	A	G	12: 31,690,817 (GRCm39)	F278S	probably damaging	Het
Fbxo43	C	T	15: 36,162,485 (GRCm39)	V241I	possibly damaging	Het
Gnai1	A	G	5: 18,496,504 (GRCm39)	F140L		Het
Gne	T	C	4: 44,084,061 (GRCm39)	Y13C	probably benign	Het
Heatr5b	A	T	17: 79,121,662 (GRCm39)	S688T	probably benign	Het
Hectd2	T	A	19: 36,581,754 (GRCm39)	D431E	possibly damaging	Het
Hecw2	A	G	1: 54,079,546 (GRCm39)	S36P	probably benign	Het
Hpx	A	T	7: 105,241,352 (GRCm39)	I353N	probably damaging	Het
Ints8	A	T	4: 11,204,534 (GRCm39)	V974E	probably damaging	Het
Jaml	T	A	9: 45,000,110 (GRCm39)	L136Q	probably damaging	Het
Kazn	A	G	4: 141,845,441 (GRCm39)	V381A	probably benign	Het
Krt79	T	C	15: 101,838,187 (GRCm39)	T523A	unknown	Het
Lrrc8e	T	G	8: 4,285,140 (GRCm39)	L455R	probably damaging	Het
Mrps11	T	C	7: 78,433,125 (GRCm39)	S7P	possibly damaging	Het
Muc21	A	G	17: 35,933,722 (GRCm39)	S155P	unknown	Het
Neurl3	A	G	1: 36,308,662 (GRCm39)	F50S	probably damaging	Het
Nlgn1	T	C	3: 25,490,363 (GRCm39)	T455A	probably damaging	Het
Pbp2	T	C	6: 135,287,260 (GRCm39)	Y29C	probably damaging	Het
Pdcd11	T	A	19: 47,101,791 (GRCm39)	L992*	probably null	Het
Pla2g6	A	G	15: 79,171,322 (GRCm39)	I756T	probably benign	Het
Polm	T	A	11: 5,781,707 (GRCm39)	D263V	possibly damaging	Het
Pspc1	T	C	14: 57,001,700 (GRCm39)	T225A	probably benign	Het
Rtca	C	A	3: 116,301,473 (GRCm39)	A25S	probably benign	Het
Sirt2	G	A	7: 28,487,191 (GRCm39)	V318M	probably damaging	Het
Slc1a2	T	A	2: 102,568,197 (GRCm39)	I78K	probably damaging	Het
Slco3a1	A	G	7: 74,009,577 (GRCm39)	I246T	probably benign	Het
Smpd5	A	G	15: 76,179,926 (GRCm39)	E325G	probably benign	Het
Snw1	T	C	12: 87,500,673 (GRCm39)	E362G	probably benign	Het
Tmem63c	A	T	12: 87,108,328 (GRCm39)	M114L	possibly damaging	Het
Trim24	T	C	6: 37,848,242 (GRCm39)	L66P	probably damaging	Het
Trpm3	T	C	19: 22,896,060 (GRCm39)	F966L	possibly damaging	Het
Ttn	T	C	2: 76,609,643 (GRCm39)	I17588V	probably benign	Het
Vmn2r44	A	T	7: 8,371,227 (GRCm39)	C606*	probably null	Het
Vmn2r74	A	T	7: 85,601,454 (GRCm39)	V728E	probably benign	Het
Zfp503	T	C	14: 22,036,019 (GRCm39)	D299G	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	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
R2405:Gbx2	UTSW	1	89,858,630 (GRCm39)	start gained	probably benign
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
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'- CAGCTGCTGGTGTTGACTTC -3'
(R):5'- TGACAATTTGCCTGGTCAGAC -3'

Sequencing Primer
(F):5'- CGAATAGCGAACCTGCTAACGTG -3'
(R):5'- TGCCTGGTCAGACTGCTCATAAG -3'

Posted On

2020-07-13