Mutagenetix > Incidental Mutation

Incidental Mutation 'R0800:Gabpb1'

76218

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

038980-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126469362-126518257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126472248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 351 (Y351N)

Ref Sequence

ENSEMBL: ENSMUSP00000106054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103227] [ENSMUST00000110424] [ENSMUST00000110425]

AlphaFold

Q00420

Predicted Effect

probably damaging
Transcript: ENSMUST00000103227
AA Change: Y351N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099517
Gene: ENSMUSG00000027361
AA Change: Y351N

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: Y351N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106054
Gene: ENSMUSG00000027361
AA Change: Y351N

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: Y352N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106055
Gene: ENSMUSG00000027361
AA Change: Y352N

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

noncoding transcript
Transcript: ENSMUST00000157575

Meta Mutation Damage Score

0.2425

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B230217C12Rik	T	C	11: 97,732,086 (GRCm39)		probably benign	Het
Cacna1g	T	C	11: 94,317,265 (GRCm39)	D1498G	probably damaging	Het
Ces3b	T	A	8: 105,811,901 (GRCm39)	D103E	possibly damaging	Het
Chd5	A	G	4: 152,440,614 (GRCm39)	Y158C	probably damaging	Het
Cic	A	G	7: 24,984,662 (GRCm39)	T1033A	probably benign	Het
Cst13	A	T	2: 148,672,247 (GRCm39)	I141F	possibly damaging	Het
Dnah7a	A	G	1: 53,604,855 (GRCm39)	L1301P	probably damaging	Het
Dnah8	T	A	17: 30,923,636 (GRCm39)	F1201L	probably benign	Het
Dok7	T	C	5: 35,232,633 (GRCm39)		probably benign	Het
Dzip3	A	G	16: 48,774,171 (GRCm39)		probably benign	Het
Eml6	A	G	11: 29,699,877 (GRCm39)	V1753A	probably benign	Het
Fer1l4	A	G	2: 155,887,583 (GRCm39)	F538L	possibly damaging	Het
Fmo2	C	T	1: 162,704,383 (GRCm39)	D508N	probably benign	Het
Gnaq	T	A	19: 16,312,428 (GRCm39)	V230E	probably damaging	Het
Gprc5c	A	C	11: 114,757,537 (GRCm39)	K48Q	probably damaging	Het
Gzmd	A	G	14: 56,369,948 (GRCm39)	L11P	unknown	Het
Hbq1b	A	C	11: 32,237,581 (GRCm39)	H123P	probably damaging	Het
Hibadh	T	A	6: 52,533,490 (GRCm39)	I209F	probably damaging	Het
Il17f	G	T	1: 20,848,177 (GRCm39)	C100*	probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Itga8	A	T	2: 12,198,362 (GRCm39)	V541E	possibly damaging	Het
Kifc5b	T	A	17: 27,142,158 (GRCm39)	V212D	probably benign	Het
Klra2	A	T	6: 131,207,137 (GRCm39)	Y157*	probably null	Het
Kprp	T	C	3: 92,732,342 (GRCm39)	Y236C	unknown	Het
Mmp12	A	T	9: 7,357,827 (GRCm39)	M414L	possibly damaging	Het
Myh6	A	G	14: 55,190,735 (GRCm39)		probably benign	Het
Nlgn2	A	G	11: 69,716,823 (GRCm39)	F573L	possibly damaging	Het
Or10j7	C	T	1: 173,011,627 (GRCm39)	A125T	probably damaging	Het
Or4c124	A	G	2: 89,156,008 (GRCm39)	V172A	probably benign	Het
Pakap	T	A	4: 57,709,650 (GRCm39)	D198E	probably benign	Het
Papss1	T	A	3: 131,305,615 (GRCm39)		probably benign	Het
Parp4	A	G	14: 56,827,408 (GRCm39)	T181A	probably benign	Het
Piwil2	A	T	14: 70,646,486 (GRCm39)		probably benign	Het
Pla2g12b	A	G	10: 59,239,642 (GRCm39)	N17S	probably benign	Het
Polr3c	C	A	3: 96,626,627 (GRCm39)	V266L	probably damaging	Het
Pou3f3	A	G	1: 42,737,527 (GRCm39)	T408A	probably damaging	Het
Pskh1	A	G	8: 106,640,238 (GRCm39)	Y306C	probably damaging	Het
Rom1	T	A	19: 8,906,272 (GRCm39)	D89V	probably damaging	Het
Sell	T	A	1: 163,893,770 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,178,249 (GRCm39)		probably null	Het
Speg	T	C	1: 75,400,133 (GRCm39)	S2527P	probably damaging	Het
Stat3	A	G	11: 100,784,981 (GRCm39)		probably benign	Het
Stra6l	A	G	4: 45,882,797 (GRCm39)	T503A	probably benign	Het
Tapbp	A	G	17: 34,145,227 (GRCm39)	T375A	probably benign	Het
Tgm6	G	A	2: 129,985,342 (GRCm39)	V382M	possibly damaging	Het
Trappc9	A	T	15: 72,824,981 (GRCm39)		probably benign	Het
Txlnb	A	G	10: 17,675,240 (GRCm39)	N131S	possibly damaging	Het
Usp19	A	G	9: 108,372,353 (GRCm39)	E469G	probably damaging	Het
Vmn2r17	T	A	5: 109,575,192 (GRCm39)		probably benign	Het
Zfp750	T	C	11: 121,402,838 (GRCm39)	T637A	probably benign	Het
Zhx2	A	C	15: 57,686,124 (GRCm39)	I498L	probably damaging	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
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'- TGGCCTCTGGATCTCAGCAACAAG -3'
(R):5'- CTGTGTGACTGTCATCTGAGGGAAC -3'

Sequencing Primer
(F):5'- CTTAAGTCCCGTTATCAAGCTG -3'
(R):5'- GACTGTCATCTGAGGGAACTCATTC -3'

Posted On

2013-10-16