Mutagenetix > Incidental Mutation

Incidental Mutation 'R2171:Abt1'

237502

Institutional Source

Beutler Lab

Gene Symbol

Abt1

Ensembl Gene

ENSMUSG00000036376

Gene Name

activator of basal transcription 1

Synonyms

MMRRC Submission

040173-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R2171 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23602531-23608036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23606387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 189 (L189P)

Ref Sequence

ENSEMBL: ENSMUSP00000045888 (fasta)

Gene Model

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

AlphaFold

Q9QYL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041782
AA Change: L189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045888
Gene: ENSMUSG00000036376
AA Change: L189P

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	A	5: 81,660,362 (GRCm39)	S377*	probably null	Het
Adgrv1	A	G	13: 81,419,037 (GRCm39)	V5986A	probably damaging	Het
Arv1	T	G	8: 125,455,094 (GRCm39)	C102W	probably damaging	Het
Asb18	T	C	1: 89,896,419 (GRCm39)	H207R	probably benign	Het
Bach2	T	C	4: 32,501,662 (GRCm39)	V13A	probably damaging	Het
Bccip	T	C	7: 133,320,843 (GRCm39)	S206P	probably benign	Het
Cdhr4	T	C	9: 107,870,117 (GRCm39)	S41P	probably benign	Het
Chd7	A	G	4: 8,752,424 (GRCm39)	Y307C	probably damaging	Het
Clec4f	A	T	6: 83,629,846 (GRCm39)	S237R	possibly damaging	Het
Cntnap5a	A	G	1: 116,116,132 (GRCm39)	D538G	possibly damaging	Het
Col9a2	T	A	4: 120,902,198 (GRCm39)	C173*	probably null	Het
Ctr9	T	A	7: 110,646,117 (GRCm39)	M703K	possibly damaging	Het
Cyp2a12	A	G	7: 26,729,057 (GRCm39)	Y83C	probably damaging	Het
Eef1akmt3	A	C	10: 126,868,843 (GRCm39)	D210E	probably benign	Het
Erbin	A	G	13: 103,971,466 (GRCm39)	F717L	probably benign	Het
Gtf3a	A	G	5: 146,892,272 (GRCm39)	N341S	probably benign	Het
Hltf	T	C	3: 20,113,245 (GRCm39)	V6A	probably damaging	Het
Itga6	T	A	2: 71,650,358 (GRCm39)	Y135N	probably damaging	Het
Krt73	T	C	15: 101,709,345 (GRCm39)	Q154R	possibly damaging	Het
Lce1a1	C	T	3: 92,554,048 (GRCm39)	C142Y	unknown	Het
Lcorl	A	T	5: 45,904,493 (GRCm39)	I112N	probably damaging	Het
Ltbp1	C	T	17: 75,598,312 (GRCm39)	H916Y	probably damaging	Het
Lypla2	T	C	4: 135,697,915 (GRCm39)		probably null	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mmp1a	T	A	9: 7,475,357 (GRCm39)	D375E	probably damaging	Het
Nlrp14	T	G	7: 106,781,709 (GRCm39)	L302R	probably damaging	Het
Npy2r	T	G	3: 82,447,708 (GRCm39)	T243P	possibly damaging	Het
Or11h4	A	T	14: 50,973,876 (GRCm39)	S248T	probably benign	Het
Or51k2	T	C	7: 103,595,992 (GRCm39)	V73A	probably damaging	Het
Paqr9	A	T	9: 95,442,931 (GRCm39)	H307L	probably damaging	Het
Phc3	T	C	3: 31,005,078 (GRCm39)	T172A	probably damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Pik3c2g	C	T	6: 139,801,012 (GRCm39)	Q386*	probably null	Het
Pira2	T	C	7: 3,847,417 (GRCm39)	S91G	probably benign	Het
Plxna2	T	A	1: 194,482,925 (GRCm39)	N1539K	probably damaging	Het
Poc5	C	T	13: 96,547,257 (GRCm39)	H507Y	probably damaging	Het
Pou2f1	A	T	1: 165,707,925 (GRCm39)		probably benign	Het
Pthlh	T	G	6: 147,158,694 (GRCm39)	K89Q	probably damaging	Het
Rims4	A	T	2: 163,706,046 (GRCm39)		probably null	Het
Rnf138	A	G	18: 21,159,143 (GRCm39)	N188D	probably damaging	Het
Rreb1	A	G	13: 38,114,822 (GRCm39)	D727G	probably benign	Het
Sc5d	T	G	9: 42,166,682 (GRCm39)	K286Q	probably benign	Het
Slc10a5	C	T	3: 10,400,342 (GRCm39)	G106D	possibly damaging	Het
Smg6	A	T	11: 74,929,472 (GRCm39)	Q967L	probably damaging	Het
Spty2d1	C	T	7: 46,644,361 (GRCm39)	R636H	probably damaging	Het
Srms	A	T	2: 180,850,573 (GRCm39)	Y195*	probably null	Het
Susd4	A	G	1: 182,719,759 (GRCm39)	D458G	probably benign	Het
Tecta	T	C	9: 42,270,220 (GRCm39)	R1363G	probably damaging	Het
Thbs1	G	A	2: 117,953,060 (GRCm39)	G890D	probably damaging	Het
Tpp2	T	C	1: 43,996,606 (GRCm39)	V317A	probably benign	Het
Ttpa	T	C	4: 20,021,357 (GRCm39)	V175A	probably damaging	Het
Vps13b	G	T	15: 35,887,343 (GRCm39)	D3251Y	probably benign	Het
Vps54	A	G	11: 21,248,810 (GRCm39)	D441G	probably benign	Het
Zfp738	A	T	13: 67,819,096 (GRCm39)	Y298*	probably null	Het
Zfp804a	G	A	2: 82,087,527 (GRCm39)	C452Y	possibly damaging	Het
Zxdc	A	G	6: 90,359,461 (GRCm39)	K698E	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
R4082:Abt1	UTSW	13	23,606,316 (GRCm39)	missense	probably benign	0.00
R5125:Abt1	UTSW	13	23,606,819 (GRCm39)	missense	possibly damaging	0.75
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'- GAGGGGCTCCAAAGATCTTG -3'
(R):5'- TCTGAGCAGCTCCCAGTTTC -3'

Sequencing Primer
(F):5'- AAGGAGCCCTCTGTTGGATC -3'
(R):5'- GAGCAGCTCCCAGTTTCTTCTC -3'

Posted On

2014-10-02