Mutagenetix > Incidental Mutation

Incidental Mutation 'R7811:Gbx1'

601155

Institutional Source

Beutler Lab

Gene Symbol

Gbx1

Ensembl Gene

ENSMUSG00000067724

Gene Name

gastrulation brain homeobox 1

Synonyms

Gbx-1

MMRRC Submission

045866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24709424-24731846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24710035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 270 (E270G)

Ref Sequence

ENSEMBL: ENSMUSP00000085651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000088311]

AlphaFold

P82976

Predicted Effect

probably benign
Transcript: ENSMUST00000024123

SMART Domains

Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353

Domain	Start	End	E-Value	Type
low complexity region	4	59	N/A	INTRINSIC
Pfam:Ras	128	286	1.2e-18	PFAM
low complexity region	328	345	N/A	INTRINSIC
PH	403	642	2.76e-16	SMART
ArfGap	661	781	9.17e-51	SMART
ANK	820	849	2.43e1	SMART
ANK	853	885	9.17e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000088311
AA Change: E270G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085651
Gene: ENSMUSG00000067724
AA Change: E270G

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	64	83	N/A	INTRINSIC
low complexity region	113	136	N/A	INTRINSIC
low complexity region	181	191	N/A	INTRINSIC
low complexity region	257	296	N/A	INTRINSIC
low complexity region	302	314	N/A	INTRINSIC
HOX	316	378	3.54e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197513

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

MGI Phenotype

PHENOTYPE: Mice homozygous for null alleles exhibit abnormal locomotor behavior affecting hindlimbs and neuron abnormalities. Neuronal abnormalities have been reported in some mice for motor neurons and GABAergic neurons and for proprioceptive sensory axons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,527,141 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,616,362 (GRCm39)	T935A	probably benign	Het
Anxa7	A	T	14: 20,510,254 (GRCm39)	Y399N	probably benign	Het
Arhgef10l	G	T	4: 140,242,335 (GRCm39)	T1030K	possibly damaging	Het
Ass1	G	A	2: 31,404,753 (GRCm39)	V345I	probably benign	Het
Bms1	T	C	6: 118,380,099 (GRCm39)	D736G	probably damaging	Het
Bpifb1	T	A	2: 154,048,484 (GRCm39)		probably null	Het
Cbx4	A	C	11: 118,972,398 (GRCm39)	C326G	probably benign	Het
Ccdc188	A	G	16: 18,036,314 (GRCm39)	E94G	probably benign	Het
Cdh5	A	G	8: 104,852,235 (GRCm39)	T117A	possibly damaging	Het
Cdk11b	A	G	4: 155,724,359 (GRCm39)	T326A	unknown	Het
Clec5a	C	T	6: 40,558,867 (GRCm39)	C73Y	probably damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Diaph3	T	C	14: 87,219,060 (GRCm39)	D455G	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Ern1	A	T	11: 106,325,694 (GRCm39)	V112D	unknown	Het
Eya3	T	C	4: 132,439,272 (GRCm39)	I466T	possibly damaging	Het
Fbxl6	T	C	15: 76,421,485 (GRCm39)		probably null	Het
Ffar1	A	G	7: 30,560,802 (GRCm39)	S32P	possibly damaging	Het
Fgb	T	C	3: 82,957,004 (GRCm39)	D22G	probably benign	Het
Fsip2	T	C	2: 82,828,797 (GRCm39)	Y6865H	possibly damaging	Het
Golga4	T	C	9: 118,361,643 (GRCm39)	L207P	probably damaging	Het
Hnrnpa1	T	C	15: 103,149,900 (GRCm39)	S54P	possibly damaging	Het
Htr4	A	G	18: 62,545,269 (GRCm39)	E18G	possibly damaging	Het
Ide	A	C	19: 37,307,910 (GRCm39)	L34R		Het
Ip6k3	A	T	17: 27,376,557 (GRCm39)	Y51*	probably null	Het
Keap1	A	G	9: 21,148,956 (GRCm39)	L17P	possibly damaging	Het
Lrrn2	T	C	1: 132,866,939 (GRCm39)	V668A	probably benign	Het
Lypd8	A	T	11: 58,281,064 (GRCm39)	T209S	possibly damaging	Het
Myo10	T	C	15: 25,804,610 (GRCm39)	I1635T	probably damaging	Het
Myo1e	T	A	9: 70,234,544 (GRCm39)	V299E	probably damaging	Het
Nadk	A	T	4: 155,661,332 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,536,357 (GRCm39)	W1231R	probably damaging	Het
Odf2l	A	G	3: 144,859,148 (GRCm39)	T602A	probably benign	Het
Or13g1	T	A	7: 85,955,554 (GRCm39)	T256S	probably damaging	Het
Or2r3	T	A	6: 42,448,635 (GRCm39)	E159V	probably damaging	Het
Pde6c	T	C	19: 38,128,507 (GRCm39)	V190A	possibly damaging	Het
Ppp4r3a	C	A	12: 101,019,821 (GRCm39)	R378L	probably damaging	Het
Pus7l	A	C	15: 94,438,707 (GRCm39)	V46G	probably damaging	Het
Satb2	G	A	1: 56,884,880 (GRCm39)	S466L	probably benign	Het
Serpina6	A	G	12: 103,620,395 (GRCm39)	M118T	probably damaging	Het
Slc29a1	T	C	17: 45,897,189 (GRCm39)	R366G	probably damaging	Het
Slc6a1	T	C	6: 114,279,515 (GRCm39)	F98S	probably damaging	Het
Spg7	T	C	8: 123,824,164 (GRCm39)	I738T	possibly damaging	Het
Srcap	T	C	7: 127,141,221 (GRCm39)	V1667A	probably damaging	Het
Stxbp5	T	C	10: 9,684,248 (GRCm39)	N574S	probably benign	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tbc1d10a	T	C	11: 4,136,948 (GRCm39)	S54P	possibly damaging	Het
Trim12c	T	C	7: 103,990,469 (GRCm39)	N336S	unknown	Het
Ubap2	T	C	4: 41,211,710 (GRCm39)	S351G	probably benign	Het
Unc13c	G	T	9: 73,600,553 (GRCm39)	A1397E	possibly damaging	Het
Ush1c	G	A	7: 45,854,710 (GRCm39)	R681*	probably null	Het
Vmn2r57	A	T	7: 41,074,439 (GRCm39)	C541*	probably null	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	possibly damaging	Het
Vmn2r88	A	T	14: 51,656,160 (GRCm39)	T790S		Het
Zfp568	A	G	7: 29,697,295 (GRCm39)	T72A	possibly damaging	Het
Zfp950	A	T	19: 61,108,353 (GRCm39)	Y243*	probably null	Het
Zmym5	A	G	14: 57,036,434 (GRCm39)	S238P	probably damaging	Het
Zswim5	A	G	4: 116,734,673 (GRCm39)	E6G	unknown	Het

Other mutations in Gbx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02113:Gbx1	APN	5	24,709,874 (GRCm39)	missense	probably damaging	1.00
IGL03000:Gbx1	APN	5	24,709,924 (GRCm39)	missense	probably benign	0.09
R2135:Gbx1	UTSW	5	24,731,220 (GRCm39)	missense	possibly damaging	0.59
R3619:Gbx1	UTSW	5	24,731,111 (GRCm39)	missense	probably benign	0.01
R3981:Gbx1	UTSW	5	24,731,213 (GRCm39)	missense	probably benign
R4817:Gbx1	UTSW	5	24,731,204 (GRCm39)	missense	probably damaging	0.99
R4896:Gbx1	UTSW	5	24,709,837 (GRCm39)	missense	probably damaging	1.00
R5004:Gbx1	UTSW	5	24,709,837 (GRCm39)	missense	probably damaging	1.00
R5422:Gbx1	UTSW	5	24,709,667 (GRCm39)	missense	possibly damaging	0.90
R6431:Gbx1	UTSW	5	24,709,916 (GRCm39)	missense	probably benign	0.09
R7080:Gbx1	UTSW	5	24,731,298 (GRCm39)	missense	probably benign	0.00
R8823:Gbx1	UTSW	5	24,710,051 (GRCm39)	missense	probably damaging	1.00
R9688:Gbx1	UTSW	5	24,731,510 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACTCAGGTATTTCTTGCAGTG -3'
(R):5'- CGTGCCTTTTCCAAAACACC -3'

Sequencing Primer
(F):5'- CAGGTATTTCTTGCAGTGAAACTCC -3'
(R):5'- AAAACACCTTCTCCTTGCCC -3'

Posted On

2019-11-26