Mutagenetix > Incidental Mutation

Incidental Mutation 'R5504:Gabpa'

430853

Institutional Source

Beutler Lab

Gene Symbol

Gabpa

Ensembl Gene

ENSMUSG00000008976

Gene Name

GA repeat binding protein, alpha

Synonyms

GABPalpha

MMRRC Submission

043065-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5504 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84631813-84660667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84649446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 218 (S218P)

Ref Sequence

ENSEMBL: ENSMUSP00000109822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009120] [ENSMUST00000114184]

AlphaFold

Q00422

Predicted Effect

probably benign
Transcript: ENSMUST00000009120
AA Change: S218P

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

SMART Domains

Protein: ENSMUSP00000009120
Gene: ENSMUSG00000008976
AA Change: S218P

Domain	Start	End	E-Value	Type
Pfam:GABP-alpha	34	122	1.6e-45	PFAM
low complexity region	128	141	N/A	INTRINSIC
SAM_PNT	170	251	2.99e-40	SMART
ETS	319	404	1.95e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114184
AA Change: S218P

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

SMART Domains

Protein: ENSMUSP00000109822
Gene: ENSMUSG00000008976
AA Change: S218P

Domain	Start	End	E-Value	Type
Pfam:GABP-alpha	36	119	4.9e-33	PFAM
low complexity region	128	141	N/A	INTRINSIC
SAM_PNT	170	251	2.99e-40	SMART
ETS	319	404	1.95e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148035

Meta Mutation Damage Score

0.0905

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.6%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene die early in embryonic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	C	T	8: 44,078,319 (GRCm39)	C635Y	probably damaging	Het
Akr1b7	A	G	6: 34,396,453 (GRCm39)		probably null	Het
Amy2a1	T	G	3: 113,325,318 (GRCm39)	D92A	probably benign	Het
Angel2	A	G	1: 190,676,083 (GRCm39)	T455A	probably damaging	Het
Angptl2	T	C	2: 33,119,050 (GRCm39)		probably benign	Het
Ankrd40	A	G	11: 94,219,153 (GRCm39)	E25G	probably benign	Het
Asb18	T	A	1: 89,920,746 (GRCm39)	D136V	probably damaging	Het
Asphd1	T	C	7: 126,545,350 (GRCm39)	I336V	possibly damaging	Het
Birc6	C	T	17: 74,962,208 (GRCm39)	P58S	probably damaging	Het
Bsx	A	T	9: 40,785,460 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,488,843 (GRCm39)	L1965P	probably benign	Het
Capza3	A	T	6: 139,988,165 (GRCm39)	I255L	probably benign	Het
Ccdc185	G	T	1: 182,575,192 (GRCm39)	A499E	probably damaging	Het
Cfhr4	A	T	1: 139,629,558 (GRCm39)	S749T	probably benign	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Colgalt2	G	A	1: 152,276,054 (GRCm39)	V56M	possibly damaging	Het
Dennd1b	A	T	1: 139,018,246 (GRCm39)	T197S	probably benign	Het
Dhx30	A	G	9: 109,914,278 (GRCm39)	Y1000H	probably benign	Het
Dlg2	C	T	7: 92,091,865 (GRCm39)	A910V	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dock5	T	C	14: 68,040,535 (GRCm39)	D884G	probably benign	Het
Fhad1	A	G	4: 141,712,846 (GRCm39)	S198P	probably benign	Het
Gm17654	A	T	14: 43,815,494 (GRCm39)	N104K	unknown	Het
Gm4775	T	C	14: 106,338,389 (GRCm39)		noncoding transcript	Het
Gvin3	T	A	7: 106,201,951 (GRCm39)		noncoding transcript	Het
Heatr1	T	A	13: 12,421,500 (GRCm39)	S467T	possibly damaging	Het
Hecw1	A	G	13: 14,515,487 (GRCm39)	M215T	probably benign	Het
Hmgn2	A	T	4: 133,694,114 (GRCm39)		probably benign	Het
Kncn	T	A	4: 115,742,062 (GRCm39)	I43N	possibly damaging	Het
Lgals3bp	G	T	11: 118,284,811 (GRCm39)	T256N	probably benign	Het
Mpi	T	C	9: 57,452,500 (GRCm39)	D344G	probably damaging	Het
Myom2	G	A	8: 15,178,879 (GRCm39)	E1304K	probably damaging	Het
Npat	T	A	9: 53,481,564 (GRCm39)	F1091I	probably benign	Het
Nrcam	T	G	12: 44,610,915 (GRCm39)		probably null	Het
Or2a7	T	A	6: 43,151,572 (GRCm39)	Y217*	probably null	Het
Or4c114	C	T	2: 88,905,024 (GRCm39)	R137Q	probably benign	Het
Or56a4	T	C	7: 104,806,383 (GRCm39)	K169E	probably benign	Het
Pappa2	A	G	1: 158,675,615 (GRCm39)	S1044P	probably benign	Het
Pcnx4	T	C	12: 72,621,222 (GRCm39)	L1014S	probably damaging	Het
Pear1	G	A	3: 87,660,002 (GRCm39)		probably benign	Het
Piwil2	T	A	14: 70,627,348 (GRCm39)	Y797F	probably benign	Het
Ppp2r1b	T	G	9: 50,770,187 (GRCm39)	L81R	probably damaging	Het
Pxdn	C	A	12: 30,052,800 (GRCm39)	H812Q	probably damaging	Het
Rad21l	A	T	2: 151,510,357 (GRCm39)	F33I	probably damaging	Het
Rgs13	A	T	1: 144,015,358 (GRCm39)	C120S	possibly damaging	Het
Rp1	G	A	1: 4,420,113 (GRCm39)	T333M	probably damaging	Het
Sema6d	T	A	2: 124,499,941 (GRCm39)	V339E	probably damaging	Het
Serpina3i	T	A	12: 104,232,862 (GRCm39)	Y256N	probably damaging	Het
Slc13a1	A	T	6: 24,150,743 (GRCm39)	M65K	possibly damaging	Het
Slco6d1	A	G	1: 98,349,064 (GRCm39)	K45R	probably damaging	Het
Src	T	C	2: 157,306,641 (GRCm39)	Y215H	probably damaging	Het
Synj2	T	C	17: 6,086,750 (GRCm39)	V384A	possibly damaging	Het
Tmeff1	T	C	4: 48,650,396 (GRCm39)	S285P	probably damaging	Het
Vmn2r125	A	G	4: 156,703,456 (GRCm39)	D278G	possibly damaging	Het
Vmn2r45	T	C	7: 8,486,176 (GRCm39)	K371E	probably benign	Het
Zfp866	A	T	8: 70,218,341 (GRCm39)	H426Q	probably benign	Het

Other mutations in Gabpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Gabpa	APN	16	84,657,489 (GRCm39)	makesense	probably null
IGL03075:Gabpa	APN	16	84,649,495 (GRCm39)	missense	possibly damaging	0.82
glacier_bay	UTSW	16	84,657,297 (GRCm39)	missense	possibly damaging	0.84
R0360:Gabpa	UTSW	16	84,654,275 (GRCm39)	missense	possibly damaging	0.84
R0364:Gabpa	UTSW	16	84,654,275 (GRCm39)	missense	possibly damaging	0.84
R1668:Gabpa	UTSW	16	84,643,069 (GRCm39)	missense	probably damaging	0.98
R2415:Gabpa	UTSW	16	84,641,256 (GRCm39)	critical splice donor site	probably null
R4867:Gabpa	UTSW	16	84,654,356 (GRCm39)	missense	probably benign	0.00
R5323:Gabpa	UTSW	16	84,653,934 (GRCm39)	missense	possibly damaging	0.84
R5404:Gabpa	UTSW	16	84,657,351 (GRCm39)	missense	probably damaging	1.00
R5763:Gabpa	UTSW	16	84,657,297 (GRCm39)	missense	possibly damaging	0.84
R6853:Gabpa	UTSW	16	84,657,387 (GRCm39)	missense	probably damaging	0.99
R6897:Gabpa	UTSW	16	84,657,361 (GRCm39)	missense	probably benign
R7188:Gabpa	UTSW	16	84,643,174 (GRCm39)	missense	probably damaging	0.97
R7432:Gabpa	UTSW	16	84,654,408 (GRCm39)	nonsense	probably null
R9011:Gabpa	UTSW	16	84,638,209 (GRCm39)	splice site	probably benign
R9258:Gabpa	UTSW	16	84,653,403 (GRCm39)	missense	probably benign	0.00
R9509:Gabpa	UTSW	16	84,649,395 (GRCm39)	missense	possibly damaging	0.59
R9616:Gabpa	UTSW	16	84,649,461 (GRCm39)	missense	probably damaging	1.00
RF009:Gabpa	UTSW	16	84,641,224 (GRCm39)	missense	probably benign	0.40
X0023:Gabpa	UTSW	16	84,654,417 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTTCACTTGGGAAGTCGC -3'
(R):5'- GGGCATTACTATAGGTGCTGAG -3'

Sequencing Primer
(F):5'- TCACTTGGGAAGTCGCCTGTC -3'
(R):5'- GTGCTGAGATAATACATAAGAACACC -3'

Posted On

2016-10-05