Mutagenetix > Incidental Mutation

Incidental Mutation 'R5125:Abt1'

393513

Institutional Source

Beutler Lab

Gene Symbol

Abt1

Ensembl Gene

ENSMUSG00000036376

Gene Name

activator of basal transcription 1

Synonyms

MMRRC Submission

042713-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23602531-23608036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23606819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 94 (A94E)

Ref Sequence

ENSEMBL: ENSMUSP00000045888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041782]

AlphaFold

Q9QYL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041782
AA Change: A94E

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045888
Gene: ENSMUSG00000036376
AA Change: A94E

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
low complexity region	36	44	N/A	INTRINSIC
Blast:RRM	49	141	9e-34	BLAST
SCOP:d1fxla1	50	137	4e-3	SMART
coiled coil region	166	194	N/A	INTRINSIC

Meta Mutation Damage Score

0.1561

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

96% (49/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Carmil2	G	T	8: 106,423,521 (GRCm39)	G1207V	probably damaging	Het
Cyp2c66	A	G	19: 39,159,473 (GRCm39)	Y308C	probably damaging	Het
Dcc	A	G	18: 71,589,948 (GRCm39)	F683L	probably benign	Het
Denr	A	T	5: 124,065,144 (GRCm39)	I166F	probably damaging	Het
Dhx29	T	G	13: 113,069,134 (GRCm39)	S155A	possibly damaging	Het
Dsg1b	G	A	18: 20,530,560 (GRCm39)	G405E	probably damaging	Het
Ei24	T	A	9: 36,693,742 (GRCm39)		probably benign	Het
Exo5	A	T	4: 120,778,734 (GRCm39)		probably null	Het
Gm7356	T	C	17: 14,221,576 (GRCm39)	D151G	probably damaging	Het
Grin1	T	C	2: 25,186,839 (GRCm39)		probably benign	Het
Grin2b	C	T	6: 135,900,297 (GRCm39)	V195M	possibly damaging	Het
Hephl1	T	A	9: 14,997,468 (GRCm39)	K399N	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kmt2c	A	G	5: 25,489,379 (GRCm39)	V4520A	probably damaging	Het
Lair1	G	A	7: 4,013,488 (GRCm39)	T82I	possibly damaging	Het
Lmx1a	C	T	1: 167,658,256 (GRCm39)	S213L	possibly damaging	Het
Ly6g6d	A	G	17: 35,293,418 (GRCm39)	I8T	possibly damaging	Het
Mcm4	T	A	16: 15,453,167 (GRCm39)	D174V	probably benign	Het
Mcph1	T	A	8: 18,657,342 (GRCm39)	D60E	probably damaging	Het
Med12l	G	A	3: 59,174,635 (GRCm39)	G1851D	possibly damaging	Het
Or13c7b	T	A	4: 43,820,480 (GRCm39)	I294F	probably benign	Het
Or7e174	T	A	9: 20,012,488 (GRCm39)	C144*	probably null	Het
P2rx2	G	A	5: 110,490,517 (GRCm39)	T66I	possibly damaging	Het
Pcdh15	A	G	10: 74,419,912 (GRCm39)	E1197G	probably damaging	Het
Pira1	T	A	7: 3,742,396 (GRCm39)	K44*	probably null	Het
Ppwd1	A	T	13: 104,356,943 (GRCm39)	S191T	probably benign	Het
Rbm39	A	T	2: 156,004,785 (GRCm39)	M184K	probably damaging	Het
Reln	A	G	5: 22,118,239 (GRCm39)	V2935A	possibly damaging	Het
Robo4	T	C	9: 37,319,256 (GRCm39)	W535R	probably damaging	Het
Rsf1	A	G	7: 97,311,079 (GRCm39)	D603G	possibly damaging	Het
Sh3rf3	C	G	10: 58,967,012 (GRCm39)	P785A	probably benign	Het
Slc22a26	T	C	19: 7,767,540 (GRCm39)	T289A	possibly damaging	Het
Slc24a3	T	C	2: 145,360,767 (GRCm39)	V120A	possibly damaging	Het
Sost	C	T	11: 101,854,767 (GRCm39)	G181R	probably damaging	Het
Sp2	A	G	11: 96,846,664 (GRCm39)	F554L	probably benign	Het
Stim2	T	C	5: 54,267,939 (GRCm39)	S87P	probably damaging	Het
Tecta	T	C	9: 42,286,481 (GRCm39)	D725G	probably damaging	Het
Trgc4	A	G	13: 19,528,932 (GRCm39)		probably benign	Het
Ube4b	T	C	4: 149,427,449 (GRCm39)	M900V	probably damaging	Het
Ugt2b38	A	G	5: 87,559,671 (GRCm39)	M407T	probably damaging	Het
Vmn1r87	G	T	7: 12,865,792 (GRCm39)	A165E	possibly damaging	Het
Zc3h6	A	G	2: 128,856,399 (GRCm39)	H493R	possibly damaging	Het
Zfhx2	A	T	14: 55,312,232 (GRCm39)	F154Y	probably benign	Het
Zfp729a	A	G	13: 67,785,764 (GRCm39)		probably null	Het
Zfp976	A	G	7: 42,261,925 (GRCm39)		probably null	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het
Znfx1	A	T	2: 166,888,859 (GRCm39)	V783E	possibly damaging	Het

Other mutations in Abt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01915:Abt1	APN	13	23,607,938 (GRCm39)	missense	unknown
IGL01917:Abt1	APN	13	23,607,959 (GRCm39)	missense	unknown
FR4548:Abt1	UTSW	13	23,607,881 (GRCm39)	small deletion	probably benign
FR4976:Abt1	UTSW	13	23,607,881 (GRCm39)	small deletion	probably benign
PIT4486001:Abt1	UTSW	13	23,607,851 (GRCm39)	missense	possibly damaging	0.87
R0029:Abt1	UTSW	13	23,606,678 (GRCm39)	missense	possibly damaging	0.85
R2171:Abt1	UTSW	13	23,606,387 (GRCm39)	missense	probably damaging	1.00
R4082:Abt1	UTSW	13	23,606,316 (GRCm39)	missense	probably benign	0.00
R5178:Abt1	UTSW	13	23,606,819 (GRCm39)	missense	possibly damaging	0.75
R5204:Abt1	UTSW	13	23,606,838 (GRCm39)	missense	probably damaging	1.00
R5947:Abt1	UTSW	13	23,606,225 (GRCm39)	missense	possibly damaging	0.55
R6562:Abt1	UTSW	13	23,607,758 (GRCm39)	missense	probably damaging	0.99
R8115:Abt1	UTSW	13	23,606,402 (GRCm39)	missense	probably damaging	1.00
R9759:Abt1	UTSW	13	23,606,439 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCAGAGCTAGCAGGAAG -3'
(R):5'- AAGTTGTCATTTGAAGGGAGGC -3'

Sequencing Primer
(F):5'- TGCCTGGACTAGAGCTGGAG -3'
(R):5'- TCATTTGAAGGGAGGCATGAATTAAG -3'

Posted On

2016-06-15