Mutagenetix > Incidental Mutation

Incidental Mutation 'R3981:Gbx1'

351159

Institutional Source

Beutler Lab

Gene Symbol

Gbx1

Ensembl Gene

ENSMUSG00000067724

Gene Name

gastrulation brain homeobox 1

Synonyms

Gbx-1

MMRRC Submission

040943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3981 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24709424-24731846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24731213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 201 (D201G)

Ref Sequence

ENSEMBL: ENSMUSP00000085651 (fasta)

Gene Model

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

AlphaFold

P82976

Predicted Effect

probably benign
Transcript: ENSMUST00000088311
AA Change: D201G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085651
Gene: ENSMUSG00000067724
AA Change: D201G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (58/59)

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
Abca13	T	G	11: 9,482,407 (GRCm39)	C4313G	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bhlhe22	G	T	3: 18,109,058 (GRCm39)	R36L	probably damaging	Het
Cacnb2	A	G	2: 14,609,314 (GRCm39)	E18G	probably benign	Het
Cct2	G	A	10: 116,890,040 (GRCm39)	P10L	probably damaging	Het
Cep295	G	T	9: 15,228,363 (GRCm39)		probably benign	Het
Cep89	A	G	7: 35,137,808 (GRCm39)	R731G	probably damaging	Het
Chrnb3	C	T	8: 27,884,034 (GRCm39)	T257M	probably damaging	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Clca4b	T	C	3: 144,631,797 (GRCm39)	K236R	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cry1	A	T	10: 84,982,456 (GRCm39)	Y297N	probably damaging	Het
Defb38	A	G	8: 19,076,483 (GRCm39)		probably null	Het
Dlgap1	A	G	17: 70,823,780 (GRCm39)	K255R	probably damaging	Het
Erich6	T	C	3: 58,544,125 (GRCm39)	E154G	probably benign	Het
Esf1	G	A	2: 140,000,476 (GRCm39)	P437S	probably benign	Het
Fkbp7	A	C	2: 76,493,601 (GRCm39)	N197K	probably damaging	Het
Fsip2	T	A	2: 82,789,006 (GRCm39)	D342E	probably benign	Het
Gm15056	T	A	8: 21,390,957 (GRCm39)	K25N	possibly damaging	Het
Grb7	T	G	11: 98,345,391 (GRCm39)		probably benign	Het
H2-M3	C	T	17: 37,582,021 (GRCm39)	A159V	probably damaging	Het
Hcar1	T	C	5: 124,016,683 (GRCm39)	N336S	probably benign	Het
Ift122	T	C	6: 115,890,882 (GRCm39)	V807A	probably benign	Het
Maml2	T	C	9: 13,532,364 (GRCm39)	V526A	possibly damaging	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mmd2	T	C	5: 142,550,554 (GRCm39)	Y228C	probably damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Mras	T	C	9: 99,293,469 (GRCm39)	D57G	probably damaging	Het
Muc5ac	T	C	7: 141,367,512 (GRCm39)	C2274R	possibly damaging	Het
Or8j3c	T	A	2: 86,253,186 (GRCm39)	Y278F	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Ros1	G	A	10: 51,996,974 (GRCm39)	H1233Y	possibly damaging	Het
Samd8	A	G	14: 21,830,248 (GRCm39)	R225G	probably null	Het
Slc7a11	C	A	3: 50,382,223 (GRCm39)	V175L	probably benign	Het
Spata31d1c	A	G	13: 65,182,925 (GRCm39)	T156A	possibly damaging	Het
Spata31g1	C	T	4: 42,971,534 (GRCm39)	T289I	probably damaging	Het
Spmip9	T	C	6: 70,890,283 (GRCm39)	N170D	possibly damaging	Het
Stxbp5	T	C	10: 9,665,060 (GRCm39)		probably benign	Het
Tec	T	A	5: 72,980,942 (GRCm39)		probably benign	Het
Vps16	T	C	2: 130,284,514 (GRCm39)	W728R	possibly damaging	Het
Xirp1	T	C	9: 119,846,810 (GRCm39)	E691G	probably damaging	Het
Zfp605	T	C	5: 110,275,604 (GRCm39)	S241P	probably damaging	Het
Zfp839	G	A	12: 110,832,765 (GRCm39)	G561D	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTACTGAACACCGCGTACGATC -3'
(R):5'- TGAGCAATACCTTCTGCGCG -3'

Sequencing Primer
(F):5'- AACACCGCGTACGATCTGGAG -3'
(R):5'- ATGGTGGCGCTGACCACTGC -3'

Posted On

2015-10-08