Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02113:Gbx1'

280241

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbx1

Ensembl Gene

ENSMUSG00000067724

Gene Name

gastrulation brain homeobox 1

Synonyms

Gbx-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02113

Quality Score

Status

Chromosome

Chromosomal Location

24709424-24731846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24709874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 324 (T324A)

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: T324A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085651
Gene: ENSMUSG00000067724
AA Change: T324A

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

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,904,127 (GRCm39)	H726L	possibly damaging	Het
Aqr	A	T	2: 113,950,508 (GRCm39)	Y900*	probably null	Het
Atp11a	G	T	8: 12,915,048 (GRCm39)	R1155S	probably benign	Het
Bahd1	A	G	2: 118,747,686 (GRCm39)	D435G	probably benign	Het
Brca2	A	G	5: 150,464,444 (GRCm39)	T1403A	possibly damaging	Het
Cc2d2a	T	A	5: 43,842,590 (GRCm39)		probably null	Het
Cog7	A	G	7: 121,524,703 (GRCm39)	I697T	probably damaging	Het
Dclre1a	A	G	19: 56,529,964 (GRCm39)	V791A	probably damaging	Het
Dgki	A	G	6: 36,890,560 (GRCm39)		probably benign	Het
Dpyd	A	G	3: 118,792,868 (GRCm39)	Y525C	probably benign	Het
Eepd1	T	C	9: 25,394,009 (GRCm39)	L91P	probably damaging	Het
Foxf1	T	A	8: 121,811,304 (GRCm39)	L56H	probably damaging	Het
Fry	A	T	5: 150,323,070 (GRCm39)	M1074L	probably benign	Het
Gfpt1	T	A	6: 87,064,349 (GRCm39)	N646K	probably benign	Het
Gm10258	C	T	3: 30,322,542 (GRCm39)		probably benign	Het
Gm12887	T	C	4: 121,473,692 (GRCm39)	M53V	probably benign	Het
Hoxa11	C	T	6: 52,222,297 (GRCm39)	G135S	probably damaging	Het
Mettl6	A	T	14: 31,204,788 (GRCm39)	Y211*	probably null	Het
Moxd2	T	C	6: 40,862,338 (GRCm39)	I160M	probably benign	Het
Mphosph10	G	A	7: 64,026,555 (GRCm39)		probably benign	Het
Mrpl19	T	A	6: 81,942,896 (GRCm39)	M5L	probably benign	Het
Nbea	A	G	3: 55,899,913 (GRCm39)	V1412A	probably benign	Het
Nceh1	G	T	3: 27,277,040 (GRCm39)	S121I	probably damaging	Het
Ntan1	A	G	16: 13,653,008 (GRCm39)	T217A	probably damaging	Het
Ogfod1	C	T	8: 94,790,841 (GRCm39)	A504V	probably damaging	Het
Or52r1c	A	T	7: 102,735,057 (GRCm39)	I111L	possibly damaging	Het
Pde3b	G	A	7: 114,126,141 (GRCm39)	V792M	probably damaging	Het
Pde9a	A	T	17: 31,678,944 (GRCm39)	M262L	probably benign	Het
Pi4ka	A	G	16: 17,191,279 (GRCm39)	V206A	probably benign	Het
Pkp1	A	T	1: 135,811,652 (GRCm39)	N406K	possibly damaging	Het
Rcn3	A	G	7: 44,732,762 (GRCm39)	I302T	probably damaging	Het
Rfx6	A	G	10: 51,554,108 (GRCm39)	Q68R	probably benign	Het
Rpgrip1	A	G	14: 52,371,301 (GRCm39)	D340G	possibly damaging	Het
Scn10a	C	T	9: 119,438,956 (GRCm39)	G1638S	probably damaging	Het
Serpinb9f	A	T	13: 33,518,451 (GRCm39)	H317L	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slc40a1	A	G	1: 45,950,054 (GRCm39)	I466T	probably benign	Het
Smyd2	A	T	1: 189,614,414 (GRCm39)	S371R	probably damaging	Het
Snap47	A	C	11: 59,319,262 (GRCm39)	I292S	probably damaging	Het
Tbx4	A	G	11: 85,803,090 (GRCm39)	E322G	possibly damaging	Het
Tg	A	G	15: 66,577,179 (GRCm39)	T1501A	probably benign	Het
Tmem259	A	G	10: 79,814,543 (GRCm39)	V300A	probably benign	Het
Usp7	A	G	16: 8,534,377 (GRCm39)		probably null	Het
Vmn2r94	G	T	17: 18,477,937 (GRCm39)	T158K	probably damaging	Het
Vmn2r95	G	T	17: 18,660,169 (GRCm39)	A194S	possibly damaging	Het
Zfp944	A	T	17: 22,558,047 (GRCm39)	I400N	possibly damaging	Het
Zmynd12	T	A	4: 119,291,194 (GRCm39)	I53K	probably damaging	Het

Other mutations in Gbx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7811:Gbx1	UTSW	5	24,710,035 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16