Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Gabpb1'

20624

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

038400-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0114 (G1)

Quality Score

119

Status

Validated (trace)

Chromosome

Chromosomal Location

126469362-126518257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126495494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 86 (I86T)

Ref Sequence

ENSEMBL: ENSMUSP00000106054 (fasta)

Gene Model

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

AlphaFold

Q00420

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039978
AA Change: I86T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037673
Gene: ENSMUSG00000027361
AA Change: I86T

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
AA Change: I86T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000087177
Gene: ENSMUSG00000027361
AA Change: I86T

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
AA Change: I86T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099516
Gene: ENSMUSG00000027361
AA Change: I86T

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
AA Change: I86T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099517
Gene: ENSMUSG00000027361
AA Change: I86T

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 damaging
Transcript: ENSMUST00000110424
AA Change: I86T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106054
Gene: ENSMUSG00000027361
AA Change: I86T

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
AA Change: I86T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106055
Gene: ENSMUSG00000027361
AA Change: I86T

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

0.7465

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,861,978 (GRCm39)		probably benign	Het
4933427D14Rik	T	C	11: 72,086,625 (GRCm39)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,596,502 (GRCm39)	V379L	probably benign	Het
Akt3	T	C	1: 176,894,817 (GRCm39)	D260G	probably damaging	Het
Alms1	T	C	6: 85,596,785 (GRCm39)	L537P	probably benign	Het
Anln	A	T	9: 22,264,642 (GRCm39)	I876N	probably damaging	Het
Ano9	A	T	7: 140,683,152 (GRCm39)		probably benign	Het
Arhgef10l	T	C	4: 140,311,194 (GRCm39)	E218G	probably benign	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,552,776 (GRCm39)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,854,499 (GRCm39)	C116F	probably damaging	Het
Cand1	T	C	10: 119,052,427 (GRCm39)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,447 (GRCm39)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,450,457 (GRCm39)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,675,081 (GRCm39)	V134A	probably benign	Het
Dnai1	T	C	4: 41,605,686 (GRCm39)		probably benign	Het
Dpp10	T	C	1: 123,413,821 (GRCm39)	I163V	probably benign	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Fanca	A	T	8: 124,015,230 (GRCm39)		probably null	Het
Fes	A	G	7: 80,027,783 (GRCm39)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,378,627 (GRCm39)		probably benign	Het
Gmds	A	T	13: 32,411,264 (GRCm39)	S57T	probably benign	Het
Gnpat	T	G	8: 125,610,096 (GRCm39)	D426E	probably benign	Het
Gnptab	C	A	10: 88,269,262 (GRCm39)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,690,359 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,369,128 (GRCm39)	F2941I	probably damaging	Het
Herc2	T	C	7: 55,803,522 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,642,575 (GRCm39)	V166G	probably damaging	Het
Itga11	T	C	9: 62,667,584 (GRCm39)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,214,377 (GRCm39)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,869,064 (GRCm39)	E802*	probably null	Het
Lgi3	C	T	14: 70,768,469 (GRCm39)		probably benign	Het
Limch1	C	T	5: 67,193,427 (GRCm39)		probably benign	Het
Lipc	T	C	9: 70,711,063 (GRCm39)	N363S	probably damaging	Het
Lrit2	A	G	14: 36,790,002 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mug2	A	G	6: 122,017,607 (GRCm39)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 90,954,839 (GRCm39)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,875,242 (GRCm39)	T1549S	probably benign	Het
Naa15	T	C	3: 51,355,859 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,363,455 (GRCm39)	C54S	probably benign	Het
Nlrp9b	A	G	7: 19,757,981 (GRCm39)	D406G	probably benign	Het
Nprl3	T	A	11: 32,189,784 (GRCm39)		probably benign	Het
Nvl	A	G	1: 180,947,956 (GRCm39)	V429A	probably benign	Het
Opa1	A	T	16: 29,448,453 (GRCm39)	N912Y	probably benign	Het
Or14j3	A	T	17: 37,900,306 (GRCm39)	*313K	probably null	Het
Or1x2	G	A	11: 50,918,431 (GRCm39)	V201I	probably benign	Het
Or52b4i	A	T	7: 102,191,938 (GRCm39)	Q265L	probably benign	Het
Or6c211	T	A	10: 129,505,467 (GRCm39)	Y307F	probably benign	Het
Pcnx1	T	C	12: 82,042,869 (GRCm39)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,844,524 (GRCm39)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,477,480 (GRCm39)	D91N	probably benign	Het
Polr2b	T	A	5: 77,491,110 (GRCm39)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,899,731 (GRCm39)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,217,731 (GRCm39)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppp2r5b	C	A	19: 6,278,461 (GRCm39)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,542,633 (GRCm39)	C132S	probably benign	Het
Prg2	A	G	2: 84,813,800 (GRCm39)		probably benign	Het
Prpf4b	G	A	13: 35,074,471 (GRCm39)		probably benign	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,305,413 (GRCm39)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm39)	C825F	probably damaging	Het
Sema4b	A	G	7: 79,868,826 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,423,244 (GRCm39)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,266,501 (GRCm39)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,222,160 (GRCm39)	D104G	probably damaging	Het
Specc1	A	T	11: 62,037,139 (GRCm39)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,526,696 (GRCm39)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,575,727 (GRCm39)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 127,848,666 (GRCm39)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,889,213 (GRCm39)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,314,328 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,014,617 (GRCm39)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,466,213 (GRCm39)	I178N	probably damaging	Het
Ttn	G	C	2: 76,537,437 (GRCm39)	I26503M	possibly damaging	Het
Usp28	C	A	9: 48,950,323 (GRCm39)	D589E	probably benign	Het
Utp23	T	C	15: 51,745,907 (GRCm39)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,374,603 (GRCm39)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,336,169 (GRCm39)	E142*	probably null	Het
Xrn2	A	T	2: 146,871,699 (GRCm39)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,601,488 (GRCm39)	Q144L	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
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
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'- TAGCTCTTCACCCACAAGGCTGAC -3'
(R):5'- GGGAACTTCTCCACTTCATCTGGC -3'

Sequencing Primer
(F):5'- CAAGGCTGACTCTCAATGGTTG -3'
(R):5'- CCGCACAGTATGGGCATTTC -3'

Posted On

2013-04-11