Mutagenetix > Incidental Mutation

Incidental Mutation 'R2399:Abtb1'

248628

Institutional Source

Beutler Lab

Gene Symbol

Abtb1

Ensembl Gene

ENSMUSG00000030083

Gene Name

ankyrin repeat and BTB domain containing 1

Synonyms

EF1ABP, BPOZ

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R2399 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

88812896-88818966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88815720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 221 (T221M)

Ref Sequence

ENSEMBL: ENSMUSP00000032169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032169] [ENSMUST00000038409] [ENSMUST00000061262] [ENSMUST00000145944] [ENSMUST00000204327] [ENSMUST00000203137] [ENSMUST00000205082] [ENSMUST00000203272] [ENSMUST00000204458] [ENSMUST00000203864] [ENSMUST00000204932]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032169
AA Change: T221M

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: T221M

Domain	Start	End	E-Value	Type
ANK	1	31	5.03e2	SMART
ANK	35	64	2.81e-4	SMART
BTB	115	212	7.8e-18	SMART
BTB	272	376	4.24e-19	SMART
low complexity region	412	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038409

SMART Domains

Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
coiled coil region	88	125	N/A	INTRINSIC
low complexity region	132	152	N/A	INTRINSIC
Pfam:CD34_antigen	328	539	9e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061262

SMART Domains

Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
coiled coil region	88	125	N/A	INTRINSIC
low complexity region	132	152	N/A	INTRINSIC
Pfam:CD34_antigen	328	539	5.4e-70	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141401

Predicted Effect

probably benign
Transcript: ENSMUST00000145944

SMART Domains

Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	39	57	N/A	INTRINSIC
coiled coil region	152	189	N/A	INTRINSIC
low complexity region	196	216	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147542

Predicted Effect

unknown
Transcript: ENSMUST00000203120
AA Change: R14C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203514

Predicted Effect

probably benign
Transcript: ENSMUST00000204327

Predicted Effect

probably benign
Transcript: ENSMUST00000203137

Predicted Effect

probably benign
Transcript: ENSMUST00000205082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204560

Predicted Effect

probably benign
Transcript: ENSMUST00000203272

Predicted Effect

probably benign
Transcript: ENSMUST00000204458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203460

Predicted Effect

probably benign
Transcript: ENSMUST00000203864

Predicted Effect

probably benign
Transcript: ENSMUST00000204932

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,338 (GRCm39)	E365G	probably damaging	Het
Atp2b1	T	A	10: 98,835,785 (GRCm39)	I510N	probably benign	Het
Atr	T	A	9: 95,753,652 (GRCm39)	H751Q	probably benign	Het
Cacna1d	T	C	14: 29,774,444 (GRCm39)	D1650G	probably benign	Het
Cd93	A	G	2: 148,284,071 (GRCm39)	I425T	probably benign	Het
Dpep2	A	G	8: 106,716,224 (GRCm39)	S135P	probably damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Heatr4	T	C	12: 84,027,107 (GRCm39)	H50R	probably benign	Het
Itga6	T	C	2: 71,650,358 (GRCm39)	Y135H	probably damaging	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Myh15	T	C	16: 48,957,952 (GRCm39)	I923T	probably damaging	Het
Or5b108	T	A	19: 13,168,709 (GRCm39)	I226K	probably benign	Het
Or7e170	C	T	9: 19,795,220 (GRCm39)	C127Y	probably damaging	Het
Or7g16	T	A	9: 18,727,323 (GRCm39)	D89V	probably benign	Het
Styxl1	C	T	5: 135,776,635 (GRCm39)	E318K	possibly damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Zc3h7a	G	A	16: 10,965,265 (GRCm39)	R623C	probably damaging	Het
Zfp608	T	C	18: 55,030,974 (GRCm39)	K989E	probably damaging	Het

Other mutations in Abtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01487:Abtb1	APN	6	88,816,431 (GRCm39)	missense	probably damaging	0.98
IGL02264:Abtb1	APN	6	88,813,517 (GRCm39)	missense	probably benign	0.00
IGL02376:Abtb1	APN	6	88,815,466 (GRCm39)	splice site	probably benign
IGL02702:Abtb1	APN	6	88,815,120 (GRCm39)	missense	probably benign
IGL03132:Abtb1	APN	6	88,815,941 (GRCm39)	missense	probably benign	0.01
IGL03266:Abtb1	APN	6	88,815,916 (GRCm39)	missense	probably damaging	0.97
PIT4243001:Abtb1	UTSW	6	88,815,708 (GRCm39)	missense	probably benign	0.16
PIT4418001:Abtb1	UTSW	6	88,816,630 (GRCm39)	missense	possibly damaging	0.78
R0331:Abtb1	UTSW	6	88,817,684 (GRCm39)	unclassified	probably benign
R0763:Abtb1	UTSW	6	88,815,261 (GRCm39)	missense	probably damaging	0.96
R1565:Abtb1	UTSW	6	88,813,536 (GRCm39)	missense	probably benign	0.03
R1796:Abtb1	UTSW	6	88,813,601 (GRCm39)	missense	possibly damaging	0.68
R1822:Abtb1	UTSW	6	88,813,536 (GRCm39)	missense	probably benign	0.03
R1824:Abtb1	UTSW	6	88,813,536 (GRCm39)	missense	probably benign	0.03
R2225:Abtb1	UTSW	6	88,813,349 (GRCm39)	missense	probably damaging	1.00
R2227:Abtb1	UTSW	6	88,813,349 (GRCm39)	missense	probably damaging	1.00
R4394:Abtb1	UTSW	6	88,813,566 (GRCm39)	missense	probably damaging	0.96
R4625:Abtb1	UTSW	6	88,813,269 (GRCm39)	missense	probably benign	0.00
R5312:Abtb1	UTSW	6	88,815,240 (GRCm39)	missense	probably damaging	1.00
R5552:Abtb1	UTSW	6	88,813,530 (GRCm39)	missense	probably benign	0.04
R6035:Abtb1	UTSW	6	88,818,788 (GRCm39)	missense	probably damaging	1.00
R6035:Abtb1	UTSW	6	88,818,788 (GRCm39)	missense	probably damaging	1.00
R6092:Abtb1	UTSW	6	88,815,433 (GRCm39)	missense	probably benign
R6195:Abtb1	UTSW	6	88,817,718 (GRCm39)	missense	probably benign	0.04
R7257:Abtb1	UTSW	6	88,816,434 (GRCm39)	missense	probably benign	0.01
R9547:Abtb1	UTSW	6	88,815,917 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAAGTAGCTTCTAGGTTGGCC -3'
(R):5'- CGCTTGGACATCGGTGTAGAAC -3'

Sequencing Primer
(F):5'- AACCCAGCTCTGTGGAACCTG -3'
(R):5'- TGAGTGACTGTGAGCGCC -3'

Posted On

2014-11-11