Mutagenetix > Incidental Mutation

Incidental Mutation 'R7781:Gabpb1'

599215

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

045837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126469362-126518257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126481120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 342 (C342Y)

Ref Sequence

ENSEMBL: ENSMUSP00000037673 (fasta)

Gene Model

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

AlphaFold

Q00420

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039978
AA Change: C342Y

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037673
Gene: ENSMUSG00000027361
AA Change: C342Y

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: ENSMUST00000103226
AA Change: C343Y

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099516
Gene: ENSMUSG00000027361
AA Change: C343Y

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

SMART Domains

Protein: ENSMUSP00000099517
Gene: ENSMUSG00000027361

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

SMART Domains

Protein: ENSMUSP00000106054
Gene: ENSMUSG00000027361

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

SMART Domains

Protein: ENSMUSP00000106055
Gene: ENSMUSG00000027361

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	G	A	3: 19,682,706 (GRCm39)	P23S	unknown	Het
Abcc6	C	T	7: 45,655,030 (GRCm39)	R487Q	probably damaging	Het
Abl1	A	T	2: 31,680,709 (GRCm39)	T334S	probably damaging	Het
Adam6b	T	C	12: 113,454,962 (GRCm39)	F593S	probably damaging	Het
Alx1	A	T	10: 102,845,053 (GRCm39)	M326K	probably damaging	Het
Ankhd1	A	T	18: 36,758,258 (GRCm39)	D984V	probably damaging	Het
Asb15	A	G	6: 24,562,644 (GRCm39)	N202S	probably benign	Het
Ate1	A	T	7: 130,121,157 (GRCm39)	V12E	probably damaging	Het
Atl2	A	T	17: 80,167,260 (GRCm39)	Y254N	probably damaging	Het
Atp13a5	A	G	16: 29,116,226 (GRCm39)	M630T	probably benign	Het
Atp5po	A	T	16: 91,723,417 (GRCm39)	I124N	possibly damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bicdl1	T	C	5: 115,799,546 (GRCm39)	E181G	probably damaging	Het
Bnipl	C	A	3: 95,151,486 (GRCm39)	W272L	probably damaging	Het
Catsperd	A	T	17: 56,971,072 (GRCm39)	H712L	probably benign	Het
Cilp2	T	C	8: 70,334,997 (GRCm39)	D667G	possibly damaging	Het
Cntn4	A	C	6: 106,500,575 (GRCm39)	K351Q	probably damaging	Het
Coq7	A	T	7: 118,125,111 (GRCm39)	I171N	probably damaging	Het
Csf2rb	T	A	15: 78,228,771 (GRCm39)	F371I	probably benign	Het
Cyp3a13	C	T	5: 137,897,136 (GRCm39)	V393M	possibly damaging	Het
Dennd2a	A	G	6: 39,470,000 (GRCm39)	V564A	probably damaging	Het
Ear14	T	C	14: 51,441,468 (GRCm39)	L108P	probably damaging	Het
Egflam	C	A	15: 7,283,227 (GRCm39)	V277F	probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Faap100	T	C	11: 120,265,089 (GRCm39)	M596V	probably benign	Het
Fbxw15	T	A	9: 109,386,330 (GRCm39)	T270S	possibly damaging	Het
Gls	A	T	1: 52,251,492 (GRCm39)	C288*	probably null	Het
Grm8	G	T	6: 27,285,786 (GRCm39)	D875E	probably benign	Het
Hdac4	C	A	1: 91,903,387 (GRCm39)	R514L	probably benign	Het
Hps4	T	A	5: 112,518,388 (GRCm39)	N460K	probably benign	Het
Inpp5d	T	C	1: 87,627,394 (GRCm39)	F565S	probably damaging	Het
Kcnh5	C	A	12: 75,023,455 (GRCm39)	V538F	probably damaging	Het
Kcp	T	C	6: 29,497,764 (GRCm39)	N499S	probably damaging	Het
Klk15	T	C	7: 43,588,980 (GRCm39)	L244S	probably benign	Het
Lamp3	A	T	16: 19,518,440 (GRCm39)	S266T	possibly damaging	Het
Lemd3	A	G	10: 120,761,678 (GRCm39)	F863L	probably damaging	Het
Mga	T	A	2: 119,747,838 (GRCm39)	V663D	probably damaging	Het
Naa15	A	G	3: 51,378,904 (GRCm39)		probably null	Het
Ndrg3	C	A	2: 156,770,733 (GRCm39)	G352*	probably null	Het
Nr2f6	G	T	8: 71,828,595 (GRCm39)	N233K	possibly damaging	Het
Or4a79	A	G	2: 89,551,879 (GRCm39)	F192S	probably benign	Het
Plxnb2	T	A	15: 89,041,225 (GRCm39)	M1774L	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl23a	G	A	11: 78,073,654 (GRCm39)	R62W	probably benign	Het
Rubcnl	A	G	14: 75,269,530 (GRCm39)	R63G	probably damaging	Het
Ryr1	T	C	7: 28,767,055 (GRCm39)	D2976G	probably damaging	Het
Siglec1	A	G	2: 130,923,258 (GRCm39)	Y496H	probably damaging	Het
Sipa1l2	A	G	8: 126,218,566 (GRCm39)	V257A	possibly damaging	Het
Slc24a4	T	C	12: 102,201,112 (GRCm39)		probably null	Het
Slc4a1ap	T	C	5: 31,684,822 (GRCm39)	S153P	probably damaging	Het
Slc4a4	A	T	5: 89,376,791 (GRCm39)	E1006V	possibly damaging	Het
Svep1	T	G	4: 58,069,251 (GRCm39)	E2845A	possibly damaging	Het
Tlr1	T	C	5: 65,084,079 (GRCm39)	N166S	possibly damaging	Het
Tmem231	C	T	8: 112,644,922 (GRCm39)		probably null	Het
Tsc2	C	A	17: 24,827,089 (GRCm39)	L873F	possibly damaging	Het
Unc13b	T	G	4: 43,259,546 (GRCm39)	S1403A	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,553 (GRCm39)	F236L	probably benign	Het
Vmn2r111	T	C	17: 22,789,714 (GRCm39)	S431G	probably benign	Het
Wdr7	A	T	18: 63,910,860 (GRCm39)	K751*	probably null	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zcchc2	T	C	1: 105,931,895 (GRCm39)	Y366H	probably damaging	Het
Zfp1005	A	T	2: 150,109,577 (GRCm39)	H89L	possibly damaging	Het
Zfp607a	C	T	7: 27,565,000 (GRCm39)	R56C	possibly 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
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
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'- CCAAGTGTTACCAGGTTAACAAAC -3'
(R):5'- AGTGATGTAACCTGTGCCTCC -3'

Sequencing Primer
(F):5'- GTTACAAACAAATTCTGCACTCATTC -3'
(R):5'- CCTCCCTTTCATTTTAGTATTGACAG -3'

Posted On

2019-11-26