Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Gabpb1'

283848

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gabpb1

Ensembl Gene

ENSMUSG00000027361

Gene Name

GA repeat binding protein, beta 1

Synonyms

GABPB1-1, E4TF1-47, GABPB1-2, E4Tf1B, BABPB2, NRF2B2, E4TF1, E4TF1-53, NRF2B1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

126627442-126676337 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 126653549 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039978] [ENSMUST00000089745] [ENSMUST00000103226] [ENSMUST00000103227] [ENSMUST00000110424] [ENSMUST00000110425] [ENSMUST00000124972] [ENSMUST00000137335]

AlphaFold

Q00420

Predicted Effect

probably benign
Transcript: ENSMUST00000039978

SMART Domains

Protein: ENSMUSP00000037673
Gene: ENSMUSG00000027361

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	1e-8	BLAST
ANK	37	66	3.36e-2	SMART
ANK	70	99	9.7e-8	SMART
ANK	103	132	1.76e-5	SMART
ANK	136	166	3.58e2	SMART
low complexity region	206	244	N/A	INTRINSIC
low complexity region	249	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089745

SMART Domains

Protein: ENSMUSP00000087177
Gene: ENSMUSG00000027361

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	4e-9	BLAST
ANK	37	66	3.36e-2	SMART
ANK	70	99	9.7e-8	SMART
ANK	103	132	1.76e-5	SMART
ANK	136	166	3.58e2	SMART
low complexity region	206	230	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103226

SMART Domains

Protein: ENSMUSP00000099516
Gene: ENSMUSG00000027361

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	1e-8	BLAST
ANK	37	66	3.36e-2	SMART
ANK	70	99	9.7e-8	SMART
ANK	103	132	1.76e-5	SMART
ANK	136	166	3.58e2	SMART
low complexity region	206	245	N/A	INTRINSIC
low complexity region	250	260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103227

SMART Domains

Protein: ENSMUSP00000099517
Gene: ENSMUSG00000027361

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	3e-8	BLAST
ANK	37	66	3.36e-2	SMART
ANK	70	99	9.7e-8	SMART
ANK	103	132	1.76e-5	SMART
ANK	136	166	3.58e2	SMART
low complexity region	206	244	N/A	INTRINSIC
low complexity region	249	259	N/A	INTRINSIC
coiled coil region	328	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110424

SMART Domains

Protein: ENSMUSP00000106054
Gene: ENSMUSG00000027361

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	3e-8	BLAST
ANK	37	66	3.36e-2	SMART
ANK	70	99	9.7e-8	SMART
ANK	103	132	1.76e-5	SMART
ANK	136	166	3.58e2	SMART
low complexity region	206	244	N/A	INTRINSIC
low complexity region	249	259	N/A	INTRINSIC
coiled coil region	328	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110425

SMART Domains

Protein: ENSMUSP00000106055
Gene: ENSMUSG00000027361

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	3e-8	BLAST
ANK	37	66	3.36e-2	SMART
ANK	70	99	9.7e-8	SMART
ANK	103	132	1.76e-5	SMART
ANK	136	166	3.58e2	SMART
low complexity region	206	245	N/A	INTRINSIC
low complexity region	250	260	N/A	INTRINSIC
coiled coil region	329	382	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124972

SMART Domains

Protein: ENSMUSP00000117355
Gene: ENSMUSG00000027361

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	1e-10	BLAST
ANK	37	66	3.36e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130263

Predicted Effect

probably benign
Transcript: ENSMUST00000137335

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality by E12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Gabpb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Gabpb1	APN	2	126653600	missense	possibly damaging	0.83
IGL02085:Gabpb1	APN	2	126639271	nonsense	probably null
R0034:Gabpb1	UTSW	2	126658534	missense	possibly damaging	0.94
R0114:Gabpb1	UTSW	2	126653574	missense	probably damaging	0.98
R0800:Gabpb1	UTSW	2	126630328	missense	probably damaging	0.99
R0925:Gabpb1	UTSW	2	126652265	missense	probably damaging	1.00
R1467:Gabpb1	UTSW	2	126652327	missense	probably damaging	0.99
R1467:Gabpb1	UTSW	2	126652327	missense	probably damaging	0.99
R1497:Gabpb1	UTSW	2	126639249	missense	possibly damaging	0.96
R1569:Gabpb1	UTSW	2	126652251	missense	probably benign	0.09
R2860:Gabpb1	UTSW	2	126653574	missense	probably damaging	0.98
R2861:Gabpb1	UTSW	2	126653574	missense	probably damaging	0.98
R5284:Gabpb1	UTSW	2	126652357	missense	possibly damaging	0.93
R5984:Gabpb1	UTSW	2	126646653	missense	probably damaging	0.99
R7200:Gabpb1	UTSW	2	126639302	missense	possibly damaging	0.73
R7781:Gabpb1	UTSW	2	126639200	missense	possibly damaging	0.84
R8525:Gabpb1	UTSW	2	126652274	missense	possibly damaging	0.90
R8730:Gabpb1	UTSW	2	126650564	missense	possibly damaging	0.95

Posted On

2015-04-16