Mutagenetix > Incidental Mutation

Incidental Mutation 'R1467:Gabpb1'

197577

Institutional Source

Beutler Lab

Gene Symbol

Gabpb1

Ensembl Gene

ENSMUSG00000027361

Gene Name

GA repeat binding protein, beta 1

Synonyms

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

MMRRC Submission

039520-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1467 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126469362-126518257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126494247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 126 (Y126S)

Ref Sequence

ENSEMBL: ENSMUSP00000037673 (fasta)

Gene Model

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

AlphaFold

Q00420

Predicted Effect

probably damaging
Transcript: ENSMUST00000039978
AA Change: Y126S

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

SMART Domains

Protein: ENSMUSP00000037673
Gene: ENSMUSG00000027361
AA Change: Y126S

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

possibly damaging
Transcript: ENSMUST00000089745
AA Change: Y126S

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087177
Gene: ENSMUSG00000027361
AA Change: Y126S

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

possibly damaging
Transcript: ENSMUST00000103226
AA Change: Y126S

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099516
Gene: ENSMUSG00000027361
AA Change: Y126S

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

possibly damaging
Transcript: ENSMUST00000103227
AA Change: Y126S

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099517
Gene: ENSMUSG00000027361
AA Change: Y126S

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
AA Change: Y126S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000106054
Gene: ENSMUSG00000027361
AA Change: Y126S

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

possibly damaging
Transcript: ENSMUST00000110425
AA Change: Y126S

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106055
Gene: ENSMUSG00000027361
AA Change: Y126S

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

Meta Mutation Damage Score

0.1660

Coding Region Coverage

1x: 97.5%
3x: 97.1%
10x: 95.9%
20x: 94.1%

Validation Efficiency

99% (104/105)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430O22Rik	T	C	5: 115,574,234 (GRCm39)		probably benign	Het
A630010A05Rik	C	A	16: 14,436,447 (GRCm39)	L167I	possibly damaging	Het
Abca14	A	T	7: 119,815,405 (GRCm39)	M218L	possibly damaging	Het
Abca15	C	A	7: 119,939,761 (GRCm39)		probably null	Het
Acod1	T	C	14: 103,292,003 (GRCm39)	F176L	probably benign	Het
Actr5	A	G	2: 158,480,617 (GRCm39)	H545R	probably benign	Het
Adcy1	A	G	11: 7,088,396 (GRCm39)	T472A	probably damaging	Het
Aldh1l1	A	G	6: 90,548,910 (GRCm39)	K469R	possibly damaging	Het
Ambra1	A	T	2: 91,716,048 (GRCm39)	Q853L	probably damaging	Het
Apol7e	G	T	15: 77,601,966 (GRCm39)	G188V	probably damaging	Het
Atg7	T	A	6: 114,835,943 (GRCm39)		probably benign	Het
AU018091	A	T	7: 3,214,089 (GRCm39)	W43R	probably benign	Het
Baat	A	G	4: 49,503,101 (GRCm39)	V7A	probably benign	Het
Bcas1	C	A	2: 170,229,852 (GRCm39)	Q249H	possibly damaging	Het
Bltp1	T	A	3: 37,090,094 (GRCm39)	V676D	probably damaging	Het
Bptf	G	T	11: 106,945,881 (GRCm39)	Q2453K	possibly damaging	Het
Brca1	A	T	11: 101,421,933 (GRCm39)		probably benign	Het
Btg3	A	G	16: 78,161,688 (GRCm39)		probably null	Het
CAAA01180111.1	C	A	9: 124,058,093 (GRCm39)	V9L	possibly damaging	Het
Cacna2d3	T	C	14: 29,055,736 (GRCm39)	N298S	possibly damaging	Het
Carf	G	A	1: 60,167,152 (GRCm39)	V127I	possibly damaging	Het
Catsperg1	T	C	7: 28,884,433 (GRCm39)	S916G	probably damaging	Het
Cers1	T	C	8: 70,775,819 (GRCm39)	S274P	possibly damaging	Het
Ces4a	T	A	8: 105,864,667 (GRCm39)	V48E	possibly damaging	Het
Cfap54	T	A	10: 92,805,625 (GRCm39)	H1495L	probably benign	Het
Clec4e	G	A	6: 123,262,420 (GRCm39)		probably benign	Het
Cntnap5a	T	A	1: 115,612,898 (GRCm39)	L11*	probably null	Het
Cr2	C	T	1: 194,839,817 (GRCm39)	G913R	probably damaging	Het
Cul9	A	G	17: 46,836,299 (GRCm39)	L1155P	probably damaging	Het
D130052B06Rik	C	T	11: 33,573,622 (GRCm39)		probably benign	Het
Dlec1	G	A	9: 118,957,071 (GRCm39)		probably benign	Het
Dlec1	A	T	9: 118,971,646 (GRCm39)	D1278V	probably damaging	Het
Dmrt2	A	G	19: 25,650,970 (GRCm39)	E52G	possibly damaging	Het
Dsp	A	G	13: 38,376,688 (GRCm39)	K1491R	probably benign	Het
Ecpas	A	G	4: 58,832,753 (GRCm39)	V869A	probably benign	Het
Eef1d	A	T	15: 75,767,770 (GRCm39)	D206E	probably damaging	Het
Erbb2	C	T	11: 98,327,001 (GRCm39)	Q1137*	probably null	Het
Ercc2	T	A	7: 19,119,811 (GRCm39)	D157E	probably benign	Het
Eri1	A	G	8: 35,936,284 (GRCm39)	*346Q	probably null	Het
Espl1	A	G	15: 102,228,293 (GRCm39)	E1689G	probably benign	Het
Fap	C	T	2: 62,347,964 (GRCm39)	V539I	probably benign	Het
Fasn	A	G	11: 120,701,866 (GRCm39)	F1871S	probably benign	Het
Ganc	A	T	2: 120,261,409 (GRCm39)		probably benign	Het
Gm9839	T	A	1: 32,559,594 (GRCm39)	R163*	probably null	Het
Grm1	T	C	10: 10,595,702 (GRCm39)	Y642C	probably damaging	Het
Heatr4	T	C	12: 84,024,841 (GRCm39)	T327A	possibly damaging	Het
Hmbox1	T	C	14: 65,099,027 (GRCm39)	D212G	possibly damaging	Het
Hmcn1	T	A	1: 150,565,341 (GRCm39)	D2262V	probably damaging	Het
Hoxb9	A	G	11: 96,162,764 (GRCm39)	T133A	probably benign	Het
Insr	A	T	8: 3,219,720 (GRCm39)	V934E	probably damaging	Het
Ipo9	T	C	1: 135,334,281 (GRCm39)	E315G	possibly damaging	Het
Itga10	C	T	3: 96,559,545 (GRCm39)	Q481*	probably null	Het
Kifap3	T	C	1: 163,656,689 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,925,047 (GRCm39)	M1120K	probably benign	Het
Krt78	A	G	15: 101,854,728 (GRCm39)	Y1028H	possibly damaging	Het
Lrp1b	A	T	2: 40,547,368 (GRCm39)		probably benign	Het
Lrrc38	A	T	4: 143,096,450 (GRCm39)	I254F	probably damaging	Het
Lyrm7	A	G	11: 54,741,215 (GRCm39)	F40L	probably damaging	Het
Mfsd4b1	C	T	10: 39,878,631 (GRCm39)	S422N	possibly damaging	Het
Mlh3	A	T	12: 85,284,374 (GRCm39)	L1380*	probably null	Het
Mrpl24	C	A	3: 87,829,744 (GRCm39)	A110D	probably benign	Het
Mrps14	T	C	1: 160,024,520 (GRCm39)	V17A	probably benign	Het
Mtcl1	T	C	17: 66,755,322 (GRCm39)	D340G	probably damaging	Het
Nalcn	T	C	14: 123,702,068 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,120,059 (GRCm39)	Y3900C	probably damaging	Het
Neurod4	T	C	10: 130,106,473 (GRCm39)	D267G	probably benign	Het
Nf1	A	T	11: 79,319,452 (GRCm39)	I536F	possibly damaging	Het
Nkg7	C	T	7: 43,086,857 (GRCm39)	P44S	probably damaging	Het
Or14c40	T	C	7: 86,313,185 (GRCm39)	V105A	possibly damaging	Het
Or4a67	T	C	2: 88,597,832 (GRCm39)	I276V	probably benign	Het
P3h2	A	T	16: 25,784,618 (GRCm39)		probably benign	Het
P4ha2	A	G	11: 53,997,236 (GRCm39)		probably benign	Het
Pcif1	T	C	2: 164,731,058 (GRCm39)	Y404H	probably benign	Het
Pcnx2	A	T	8: 126,480,289 (GRCm39)	L2006Q	possibly damaging	Het
Pcnx3	A	T	19: 5,724,922 (GRCm39)	S821T	possibly damaging	Het
Pde8b	T	A	13: 95,170,680 (GRCm39)	D662V	probably damaging	Het
Pkd1l3	C	T	8: 110,343,000 (GRCm39)	P113S	unknown	Het
Pkd2l1	G	T	19: 44,142,648 (GRCm39)	Q465K	possibly damaging	Het
Plch2	G	T	4: 155,068,189 (GRCm39)	P1479Q	probably benign	Het
Plekhm3	A	T	1: 64,932,041 (GRCm39)	I521N	probably damaging	Het
Pola2	A	T	19: 5,992,093 (GRCm39)	Y526*	probably null	Het
Prdm14	C	A	1: 13,194,756 (GRCm39)		probably benign	Het
Prss23	T	C	7: 89,159,217 (GRCm39)	D284G	probably damaging	Het
Psme2b	A	G	11: 48,836,467 (GRCm39)	F160S	probably damaging	Het
Rap1gap2	A	G	11: 74,327,853 (GRCm39)	V139A	possibly damaging	Het
Rbbp9	G	T	2: 144,385,777 (GRCm39)	R163S	possibly damaging	Het
Rdh12	T	C	12: 79,260,522 (GRCm39)	L206P	probably damaging	Het
Rhou	T	C	8: 124,388,029 (GRCm39)	W254R	possibly damaging	Het
Ryr3	G	T	2: 112,583,347 (GRCm39)		probably benign	Het
Scfd1	A	G	12: 51,478,281 (GRCm39)	K498E	possibly damaging	Het
Scn7a	A	G	2: 66,519,902 (GRCm39)	Y1001H	probably benign	Het
Setx	T	A	2: 29,048,917 (GRCm39)	V1981E	probably damaging	Het
Sfxn1	T	C	13: 54,247,890 (GRCm39)	I205T	possibly damaging	Het
Shld2	G	T	14: 33,990,619 (GRCm39)	H96N	possibly damaging	Het
Slc5a2	T	C	7: 127,870,428 (GRCm39)		probably benign	Het
Speer1g	C	T	5: 11,180,337 (GRCm39)	H82Y	probably damaging	Het
Spock1	G	A	13: 57,577,182 (GRCm39)	R416C	possibly damaging	Het
Spred2	A	G	11: 19,968,109 (GRCm39)	I222V	probably benign	Het
Stkld1	A	T	2: 26,839,407 (GRCm39)	T358S	probably benign	Het
Strip1	T	C	3: 107,534,724 (GRCm39)	E102G	possibly damaging	Het
Tars3	T	C	7: 65,305,444 (GRCm39)	S223P	probably damaging	Het
Tdpoz1	T	A	3: 93,578,637 (GRCm39)	E49V	probably benign	Het
Tert	A	G	13: 73,776,328 (GRCm39)	T360A	probably benign	Het
Tspear	A	G	10: 77,717,026 (GRCm39)	Y567C	probably damaging	Het
Ttc28	A	G	5: 111,433,254 (GRCm39)	Q2096R	probably benign	Het
Ttll5	A	G	12: 85,965,736 (GRCm39)		probably null	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vmn2r111	T	A	17: 22,790,028 (GRCm39)	H326L	probably damaging	Het
Vmn2r18	A	G	5: 151,510,301 (GRCm39)	F24S	possibly damaging	Het
Vmn2r82	A	T	10: 79,232,133 (GRCm39)	I711F	probably benign	Het
Vwa8	C	T	14: 79,341,134 (GRCm39)	Q1537*	probably null	Het
Wdr64	G	A	1: 175,603,288 (GRCm39)	V630I	probably benign	Het
Wnt6	G	T	1: 74,821,434 (GRCm39)	W84L	probably damaging	Het
Zfp11	C	A	5: 129,735,254 (GRCm39)	R69L	probably benign	Het

Other mutations in Gabpb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Gabpb1	APN	2	126,495,520 (GRCm39)	missense	possibly damaging	0.83
IGL02085:Gabpb1	APN	2	126,481,191 (GRCm39)	nonsense	probably null
IGL02190:Gabpb1	APN	2	126,495,469 (GRCm39)	unclassified	probably benign
R0034:Gabpb1	UTSW	2	126,500,454 (GRCm39)	missense	possibly damaging	0.94
R0114:Gabpb1	UTSW	2	126,495,494 (GRCm39)	missense	probably damaging	0.98
R0800:Gabpb1	UTSW	2	126,472,248 (GRCm39)	missense	probably damaging	0.99
R0925:Gabpb1	UTSW	2	126,494,185 (GRCm39)	missense	probably damaging	1.00
R1467:Gabpb1	UTSW	2	126,494,247 (GRCm39)	missense	probably damaging	0.99
R1497:Gabpb1	UTSW	2	126,481,169 (GRCm39)	missense	possibly damaging	0.96
R1569:Gabpb1	UTSW	2	126,494,171 (GRCm39)	missense	probably benign	0.09
R2860:Gabpb1	UTSW	2	126,495,494 (GRCm39)	missense	probably damaging	0.98
R2861:Gabpb1	UTSW	2	126,495,494 (GRCm39)	missense	probably damaging	0.98
R5284:Gabpb1	UTSW	2	126,494,277 (GRCm39)	missense	possibly damaging	0.93
R5984:Gabpb1	UTSW	2	126,488,573 (GRCm39)	missense	probably damaging	0.99
R7200:Gabpb1	UTSW	2	126,481,222 (GRCm39)	missense	possibly damaging	0.73
R7781:Gabpb1	UTSW	2	126,481,120 (GRCm39)	missense	possibly damaging	0.84
R8525:Gabpb1	UTSW	2	126,494,194 (GRCm39)	missense	possibly damaging	0.90
R8730:Gabpb1	UTSW	2	126,492,484 (GRCm39)	missense	possibly damaging	0.95
R9709:Gabpb1	UTSW	2	126,500,488 (GRCm39)	missense	probably benign	0.33
R9723:Gabpb1	UTSW	2	126,488,648 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCCATTCAAGAAAACTGAGCCCAGG -3'
(R):5'- ATGTGACAGTGCCGTACACAGC -3'

Sequencing Primer
(F):5'- CCCAGGAGGAAAAGCTGTAAGAC -3'
(R):5'- GTTTTGGAGACAAACTCAGTGC -3'

Posted On

2014-05-23