Mutagenetix > Incidental Mutation

Incidental Mutation 'R6853:Gabpa'

535114

Institutional Source

Beutler Lab

Gene Symbol

Gabpa

Ensembl Gene

ENSMUSG00000008976

Gene Name

GA repeat binding protein, alpha

Synonyms

GABPalpha

MMRRC Submission

044956-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6853 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84631813-84660667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84657387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 421 (C421S)

Ref Sequence

ENSEMBL: ENSMUSP00000109822 (fasta)

Gene Model

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

AlphaFold

Q00422

Predicted Effect

probably damaging
Transcript: ENSMUST00000009120
AA Change: C421S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000009120
Gene: ENSMUSG00000008976
AA Change: C421S

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 damaging
Transcript: ENSMUST00000114184
AA Change: C421S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109822
Gene: ENSMUSG00000008976
AA Change: C421S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	T	15: 12,818,031 (GRCm39)	D138E	probably benign	Het
Atp13a5	A	G	16: 29,140,480 (GRCm39)	S359P	possibly damaging	Het
Bcam	T	C	7: 19,494,331 (GRCm39)	D355G	probably damaging	Het
Bmp8a	C	A	4: 123,236,476 (GRCm39)	W9L	unknown	Het
Cacul1	A	T	19: 60,517,904 (GRCm39)	Y334*	probably null	Het
Ccdc178	A	T	18: 22,242,933 (GRCm39)	N227K	probably benign	Het
Ceacam2	T	C	7: 25,217,561 (GRCm39)	N318S	possibly damaging	Het
Cntrl	T	A	2: 35,019,833 (GRCm39)	S553R	possibly damaging	Het
Ctsa	T	A	2: 164,679,284 (GRCm39)	M331K	probably benign	Het
Cyp2c38	T	A	19: 39,426,748 (GRCm39)	Q184H	probably benign	Het
Cyp2c70	C	T	19: 40,172,364 (GRCm39)	E93K	possibly damaging	Het
D430041D05Rik	C	T	2: 104,071,500 (GRCm39)	V1267M	probably damaging	Het
Ddias	C	T	7: 92,508,773 (GRCm39)	A381T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,935 (GRCm39)	C2696Y	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Farp2	T	C	1: 93,497,738 (GRCm39)	F256S	probably damaging	Het
Fga	A	G	3: 82,938,219 (GRCm39)	Y198C	probably damaging	Het
Gm21798	A	T	15: 64,689,714 (GRCm39)		probably benign	Het
Gm21798	A	T	15: 64,689,716 (GRCm39)		probably benign	Het
Gm7145	A	C	1: 117,913,874 (GRCm39)	N252T	possibly damaging	Het
H2-Q6	T	C	17: 35,647,335 (GRCm39)	*327R	probably null	Het
H6pd	T	C	4: 150,066,919 (GRCm39)	D489G	probably benign	Het
Htra2	A	G	6: 83,030,812 (GRCm39)		probably benign	Het
Ice1	T	G	13: 70,751,421 (GRCm39)	E1555A	possibly damaging	Het
Inpp5d	T	A	1: 87,609,402 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,120,077 (GRCm39)	D320G	probably damaging	Het
Kif1a	T	G	1: 92,967,524 (GRCm39)	H1129P	possibly damaging	Het
Kmt2a	G	A	9: 44,729,704 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 69,084,915 (GRCm39)	D609N	probably damaging	Het
Lgals9	A	T	11: 78,856,832 (GRCm39)	D248E	probably benign	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,449,080 (GRCm39)		probably null	Het
Mtus2	A	G	5: 148,043,821 (GRCm39)	K803R	probably damaging	Het
Oas1a	T	A	5: 121,045,491 (GRCm39)	I17L	possibly damaging	Het
Or2h2c	G	A	17: 37,422,400 (GRCm39)	T158I	probably benign	Het
Or5b121	T	A	19: 13,507,295 (GRCm39)	I130K	possibly damaging	Het
Or5k15	C	T	16: 58,710,121 (GRCm39)	S154N	possibly damaging	Het
Or5k15	T	A	16: 58,710,122 (GRCm39)	S154C	probably damaging	Het
Or7g32	T	G	9: 19,408,102 (GRCm39)	Y19*	probably null	Het
Otof	T	C	5: 30,545,583 (GRCm39)	D539G	probably damaging	Het
Pabpc4	T	C	4: 123,188,536 (GRCm39)	Y382H	possibly damaging	Het
Rag1	T	C	2: 101,472,566 (GRCm39)	T859A	probably damaging	Het
Ralbp1	C	T	17: 66,159,751 (GRCm39)	R504H	possibly damaging	Het
Sdk2	A	G	11: 113,671,755 (GRCm39)	F2131S	probably damaging	Het
Sik1	A	T	17: 32,073,180 (GRCm39)		probably null	Het
Sis	A	G	3: 72,798,759 (GRCm39)	I1763T	possibly damaging	Het
Slc39a6	A	G	18: 24,732,376 (GRCm39)	I304T	possibly damaging	Het
Slc5a12	A	G	2: 110,454,539 (GRCm39)	S367G	probably benign	Het
Smchd1	A	T	17: 71,743,738 (GRCm39)	W476R	probably damaging	Het
Spag17	T	C	3: 99,920,551 (GRCm39)	Y429H	possibly damaging	Het
Stt3a	G	A	9: 36,653,023 (GRCm39)	S553F	possibly damaging	Het
Sult2a1	C	T	7: 13,535,412 (GRCm39)	V214I	possibly damaging	Het
Supt6	T	C	11: 78,123,656 (GRCm39)	E38G	possibly damaging	Het
Tenm4	G	A	7: 96,486,502 (GRCm39)	G990R	possibly damaging	Het
Thop1	T	C	10: 80,911,495 (GRCm39)		probably null	Het
Thumpd2	C	A	17: 81,372,459 (GRCm39)	D11Y	possibly damaging	Het
Tmf1	T	G	6: 97,145,810 (GRCm39)	I574L	probably damaging	Het
Tnfaip3	A	G	10: 18,879,499 (GRCm39)	V623A	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ush2a	T	G	1: 188,643,434 (GRCm39)	Y4265*	probably null	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,240,771 (GRCm39)	L114Q	probably damaging	Het
Vmn2r98	A	T	17: 19,286,063 (GRCm39)	Y187F	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
R5504:Gabpa	UTSW	16	84,649,446 (GRCm39)	missense	probably benign
R5763:Gabpa	UTSW	16	84,657,297 (GRCm39)	missense	possibly damaging	0.84
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'- GGGAGTACAAACTGTTCATCTTTACG -3'
(R):5'- CATGCATCAGATTGTACACTCTAG -3'

Sequencing Primer
(F):5'- AAACTGTTCATCTTTACGAGGTCCTG -3'
(R):5'- TTCAGTAATAAAGGTTAGAGCAAAGC -3'

Posted On

2018-09-12