Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01487:Abtb1'

88776

Institutional Source

Australian Phenomics Network (link to record)

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: 0.326) question?

Stock #

IGL01487

Quality Score

Status

Chromosome

Chromosomal Location

88812896-88818966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88816431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 121 (V121A)

Ref Sequence

ENSEMBL: ENSMUSP00000032169 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032169
AA Change: V121A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: V121A

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: ENSMUST00000141348

SMART Domains

Protein: ENSMUSP00000121139
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
Pfam:CD34_antigen	77	176	1.8e-20	PFAM

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

probably benign
Transcript: ENSMUST00000204932

Predicted Effect

probably benign
Transcript: ENSMUST00000203272

Predicted Effect

probably benign
Transcript: ENSMUST00000204327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147542

Predicted Effect

probably benign
Transcript: ENSMUST00000203137

Predicted Effect

probably benign
Transcript: ENSMUST00000203120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203460

Predicted Effect

probably benign
Transcript: ENSMUST00000203864

Predicted Effect

probably benign
Transcript: ENSMUST00000204458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203514

Predicted Effect

probably benign
Transcript: ENSMUST00000205082

Coding Region Coverage

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Carf	A	G	1: 60,148,538 (GRCm39)	H17R	probably damaging	Het
Col5a2	T	C	1: 45,415,899 (GRCm39)	N1416S	probably benign	Het
Ctsm	C	A	13: 61,686,883 (GRCm39)	R3L	probably benign	Het
Dnah3	G	A	7: 119,564,753 (GRCm39)	Q2626*	probably null	Het
Dpp3	C	T	19: 4,963,920 (GRCm39)	V587I	probably benign	Het
Fank1	A	G	7: 133,481,638 (GRCm39)	T245A	probably damaging	Het
Golga5	A	G	12: 102,461,955 (GRCm39)		probably benign	Het
Hoxb9	C	T	11: 96,165,614 (GRCm39)	Q228*	probably null	Het
Invs	A	G	4: 48,398,136 (GRCm39)	I441V	probably benign	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Psd3	T	C	8: 68,149,766 (GRCm39)	E1243G	probably benign	Het
Rapgefl1	C	T	11: 98,737,961 (GRCm39)	H392Y	probably damaging	Het
Ropn1	T	C	16: 34,498,839 (GRCm39)	V209A	probably damaging	Het
Scap	G	A	9: 110,206,802 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,391,689 (GRCm39)	M1T	probably null	Het
Serpinb11	A	T	1: 107,307,568 (GRCm39)	Y333F	probably benign	Het
Sf3b3	A	G	8: 111,544,292 (GRCm39)	Y783H	probably benign	Het
Slc4a4	A	G	5: 89,376,715 (GRCm39)	M990V	probably benign	Het
Syt3	G	T	7: 44,040,423 (GRCm39)	V219F	possibly damaging	Het
Tmtc4	A	G	14: 123,163,443 (GRCm39)	L647S	probably benign	Het

Other mutations in Abtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2399:Abtb1	UTSW	6	88,815,720 (GRCm39)	missense	possibly damaging	0.89
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

Posted On

2013-11-18