Mutagenetix > Incidental Mutation

Incidental Mutation 'R4867:Gabpa'

376275

Institutional Source

Beutler Lab

Gene Symbol

Gabpa

Ensembl Gene

ENSMUSG00000008976

Gene Name

GA repeat binding protein, alpha

Synonyms

GABPalpha

MMRRC Submission

042477-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84631813-84660667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84654356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 344 (D344E)

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: D344E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000009120
Gene: ENSMUSG00000008976
AA Change: D344E

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: D344E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109822
Gene: ENSMUSG00000008976
AA Change: D344E

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: ENSMUST00000139101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148035

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,099 (GRCm39)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,314,742 (GRCm39)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,839,375 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,093,205 (GRCm39)	V1023F	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acsbg2	A	G	17: 57,169,914 (GRCm39)	I151T	possibly damaging	Het
Arid1a	G	A	4: 133,448,168 (GRCm39)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,759,252 (GRCm39)	D344G	probably damaging	Het
Ccdc40	T	C	11: 119,122,614 (GRCm39)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,474,055 (GRCm39)	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,702,213 (GRCm39)		probably null	Het
Cog4	T	C	8: 111,593,242 (GRCm39)	V451A	probably damaging	Het
Crb1	A	T	1: 139,170,752 (GRCm39)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,855,164 (GRCm39)	D152G	probably damaging	Het
Cse1l	T	A	2: 166,768,323 (GRCm39)	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,303,815 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,947,235 (GRCm39)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,769,724 (GRCm39)	F445L	possibly damaging	Het
Dlc1	T	C	8: 37,051,799 (GRCm39)	H644R	probably benign	Het
Ecm2	A	T	13: 49,684,821 (GRCm39)	I643F	probably damaging	Het
Eogt	A	T	6: 97,097,108 (GRCm39)		probably benign	Het
Fbxo41	A	C	6: 85,452,176 (GRCm39)	S777A	probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Flt3	A	T	5: 147,271,250 (GRCm39)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,414,465 (GRCm39)		probably null	Het
Frem3	T	C	8: 81,339,912 (GRCm39)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gtf3a	C	T	5: 146,888,723 (GRCm39)	Q145*	probably null	Het
Il36rn	A	T	2: 24,170,847 (GRCm39)	N48I	probably damaging	Het
Iqca1	A	G	1: 90,017,226 (GRCm39)	L403S	probably benign	Het
Jrk	C	T	15: 74,579,069 (GRCm39)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Krt12	T	C	11: 99,307,789 (GRCm39)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,670,770 (GRCm39)	S127R	unknown	Het
Lrrc7	T	G	3: 157,866,642 (GRCm39)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,365,993 (GRCm39)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,495,320 (GRCm39)		probably null	Het
Mki67	T	C	7: 135,301,585 (GRCm39)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,946 (GRCm39)	I291M	possibly damaging	Het
Or13g1	T	C	7: 85,955,491 (GRCm39)	T277A	probably benign	Het
Or1j12	A	C	2: 36,343,211 (GRCm39)	M205L	probably benign	Het
Or2r2	A	G	6: 42,464,031 (GRCm39)	V32A	probably benign	Het
Or6e1	T	A	14: 54,520,086 (GRCm39)	T89S	probably benign	Het
Or7g17	A	T	9: 18,768,862 (GRCm39)	I305F	probably benign	Het
Parp14	T	A	16: 35,677,697 (GRCm39)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,709,113 (GRCm39)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,620,726 (GRCm39)	S849P	probably benign	Het
Pds5a	T	C	5: 65,801,463 (GRCm39)	K595E	probably damaging	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Prr5	G	T	15: 84,624,967 (GRCm39)	L46F	probably benign	Het
Ptgdr	G	T	14: 45,096,253 (GRCm39)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm39)	S555P	probably damaging	Het
Rhog	T	G	7: 101,889,357 (GRCm39)	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,415,975 (GRCm39)	T209A	probably damaging	Het
Rtkn2	T	C	10: 67,837,757 (GRCm39)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,379,737 (GRCm39)	C182*	probably null	Het
Sema3a	A	G	5: 13,501,208 (GRCm39)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,436 (GRCm39)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,040,301 (GRCm39)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,882,608 (GRCm39)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Ston1	C	T	17: 88,943,122 (GRCm39)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,357,976 (GRCm39)	S3P	probably benign	Het
Tango6	T	A	8: 107,545,158 (GRCm39)	V1007E	probably damaging	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tas2r124	A	G	6: 132,732,156 (GRCm39)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,688,856 (GRCm39)	R2244W	probably damaging	Het
Thoc2l	T	C	5: 104,668,868 (GRCm39)	I1130T	possibly damaging	Het
Tlk1	A	T	2: 70,551,915 (GRCm39)	Y585*	probably null	Het
Tmem221	C	T	8: 72,007,784 (GRCm39)	E214K	probably benign	Het
Tmem38a	T	C	8: 73,335,077 (GRCm39)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,755,705 (GRCm39)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,255,374 (GRCm39)	A1268T	probably damaging	Het
Usp25	T	A	16: 76,847,355 (GRCm39)	D154E	probably damaging	Het
Usp34	T	C	11: 23,401,999 (GRCm39)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,083,939 (GRCm39)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,933,421 (GRCm39)	C32W	probably damaging	Het
Zfp931	T	A	2: 177,709,855 (GRCm39)	H177L	probably damaging	Het
Znrf1	T	C	8: 112,264,198 (GRCm39)		probably null	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
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
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'- AGTTCTCTGGCAGTGTTAAGC -3'
(R):5'- GCGGGATGCACACAATCTTAAAG -3'

Sequencing Primer
(F):5'- GCTTTGGTTGAGATTGGACCAGAG -3'
(R):5'- TGCACGGCTAAGTTTCTC -3'

Posted On

2016-03-17