Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01161:Abtb2'

53427

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abtb2

Ensembl Gene

ENSMUSG00000032724

Gene Name

ankyrin repeat and BTB (POZ) domain containing 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01161

Quality Score

Status

Chromosome

Chromosomal Location

103566310-103718423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103705118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 543 (D543E)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076212]

AlphaFold

Q7TQI7

Predicted Effect

probably benign
Transcript: ENSMUST00000076212
AA Change: D543E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: D543E

Domain	Start	End	E-Value	Type
low complexity region	29	48	N/A	INTRINSIC
low complexity region	122	143	N/A	INTRINSIC
Blast:H2A	186	301	2e-38	BLAST
low complexity region	366	376	N/A	INTRINSIC
ANK	521	550	4.78e-7	SMART
ANK	567	596	6.26e-2	SMART
ANK	606	635	3.65e-3	SMART
ANK	649	678	5.52e2	SMART
ANK	715	746	1.84e3	SMART
BTB	844	946	9.15e-24	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	C	3: 36,090,125	N583T	possibly damaging	Het
Arhgap5	G	A	12: 52,516,860	V205M	probably damaging	Het
Arid1b	G	A	17: 5,342,399	R2068Q	probably damaging	Het
Bex3	T	C	X: 136,271,469	F60S	probably damaging	Het
Casd1	C	T	6: 4,619,833	P193S	possibly damaging	Het
Ceacam11	A	T	7: 17,978,510	I295F	possibly damaging	Het
Ceacam3	T	A	7: 17,151,857	N128K	probably benign	Het
Cyp1a2	C	T	9: 57,679,893	E372K	probably damaging	Het
Ddb1	T	G	19: 10,605,707	M1R	probably null	Het
Ecel1	T	C	1: 87,153,193	D329G	possibly damaging	Het
Fat2	T	C	11: 55,284,191	N1899D	probably benign	Het
Gli3	A	G	13: 15,548,398		probably null	Het
Gm20507	A	T	17: 33,644,753		probably benign	Het
Gml	T	G	15: 74,813,839	Y99S	probably damaging	Het
Gpr119	G	T	X: 48,673,248		probably benign	Het
Hcn1	T	C	13: 117,656,922	Y237H	unknown	Het
Hook2	G	A	8: 84,994,931	V273I	probably benign	Het
Il12rb2	T	C	6: 67,361,865		probably benign	Het
Kdm2a	A	G	19: 4,319,251	F1112S	probably benign	Het
Lpl	A	T	8: 68,892,625	K94*	probably null	Het
Lrrc8a	T	A	2: 30,255,810	L212Q	probably damaging	Het
Me2	A	T	18: 73,770,816		probably benign	Het
Mmp11	A	T	10: 75,926,821	M266K	probably benign	Het
Mprip	T	A	11: 59,731,573	V162E	possibly damaging	Het
Nsf	C	T	11: 103,861,885		probably benign	Het
Olfr661	T	C	7: 104,688,381	V122A	probably benign	Het
Pcif1	T	A	2: 164,885,788	L167H	probably damaging	Het
Reps1	T	C	10: 18,093,895	S249P	probably damaging	Het
Sdf4	T	A	4: 156,009,306	M299K	probably benign	Het
Slc30a7	A	G	3: 115,954,110	V344A	possibly damaging	Het
Svep1	G	A	4: 58,146,569	P358S	probably damaging	Het
Syt9	G	T	7: 107,425,149	R83L	probably damaging	Het
Tbc1d15	T	C	10: 115,202,530	I593V	probably benign	Het
Trio	T	A	15: 27,749,781	N1134I	probably damaging	Het
Trpv3	A	G	11: 73,296,718		probably benign	Het
Ugp2	T	A	11: 21,323,273	I449L	possibly damaging	Het
Usp24	C	A	4: 106,436,844	H2595N	probably benign	Het
Vat1l	A	G	8: 114,369,889	N370S	possibly damaging	Het
Wwc1	C	A	11: 35,867,276	D748Y	probably damaging	Het
Zfyve9	G	A	4: 108,681,064	H1002Y	probably damaging	Het

Other mutations in Abtb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02605:Abtb2	APN	2	103717257	missense	probably benign
IGL03161:Abtb2	APN	2	103567454	missense	probably benign	0.02
PIT4504001:Abtb2	UTSW	2	103717192	nonsense	probably null
R0147:Abtb2	UTSW	2	103567135	missense	probably benign	0.04
R1052:Abtb2	UTSW	2	103705072	missense	possibly damaging	0.46
R1419:Abtb2	UTSW	2	103709420	missense	probably benign	0.00
R1518:Abtb2	UTSW	2	103709284	missense	probably benign	0.03
R1650:Abtb2	UTSW	2	103702402	missense	probably damaging	1.00
R1795:Abtb2	UTSW	2	103567024	missense	probably benign	0.00
R2054:Abtb2	UTSW	2	103705117	missense	probably benign	0.41
R2101:Abtb2	UTSW	2	103566862	missense	probably benign	0.05
R2363:Abtb2	UTSW	2	103567183	missense	probably damaging	1.00
R3440:Abtb2	UTSW	2	103567232	missense	probably benign	0.43
R3927:Abtb2	UTSW	2	103708218	splice site	probably null
R4351:Abtb2	UTSW	2	103683393	missense	possibly damaging	0.46
R4352:Abtb2	UTSW	2	103683393	missense	possibly damaging	0.46
R4782:Abtb2	UTSW	2	103717299	missense	probably benign	0.35
R4814:Abtb2	UTSW	2	103717287	missense	probably benign	0.08
R4831:Abtb2	UTSW	2	103683475	missense	probably benign	0.06
R4900:Abtb2	UTSW	2	103567004	missense	possibly damaging	0.62
R5038:Abtb2	UTSW	2	103567063	missense	probably damaging	0.99
R5513:Abtb2	UTSW	2	103709278	critical splice acceptor site	probably null
R6119:Abtb2	UTSW	2	103702310	missense	probably benign	0.00
R6298:Abtb2	UTSW	2	103709488	missense	probably benign	0.10
R6383:Abtb2	UTSW	2	103567376	missense	probably damaging	0.98
R6860:Abtb2	UTSW	2	103709425	nonsense	probably null
R7000:Abtb2	UTSW	2	103712442	missense	possibly damaging	0.85
R7109:Abtb2	UTSW	2	103715515	missense	probably benign	0.20
R7176:Abtb2	UTSW	2	103709375	missense	probably benign	0.00
R7189:Abtb2	UTSW	2	103567516	missense	probably benign	0.00
R7199:Abtb2	UTSW	2	103567220	missense	possibly damaging	0.74
R7299:Abtb2	UTSW	2	103702424	splice site	probably null
R7347:Abtb2	UTSW	2	103567412	missense	probably damaging	1.00
R7469:Abtb2	UTSW	2	103566947	missense	probably benign	0.00
R7629:Abtb2	UTSW	2	103683493	critical splice donor site	probably null
R7862:Abtb2	UTSW	2	103702281	missense	probably damaging	1.00
R8200:Abtb2	UTSW	2	103700817	missense	probably benign	0.02
R8682:Abtb2	UTSW	2	103567375	missense	probably benign	0.36
R8700:Abtb2	UTSW	2	103566944	missense	probably damaging	0.99
R9164:Abtb2	UTSW	2	103711484	missense	possibly damaging	0.50
R9196:Abtb2	UTSW	2	103683302	missense	possibly damaging	0.71
R9254:Abtb2	UTSW	2	103711235	missense	probably benign	0.00
R9258:Abtb2	UTSW	2	103716065	missense	probably null	0.99
R9343:Abtb2	UTSW	2	103717160	missense	probably benign
R9427:Abtb2	UTSW	2	103700899	missense	probably damaging	1.00
R9675:Abtb2	UTSW	2	103708187	missense	probably benign
Z1176:Abtb2	UTSW	2	103708172	nonsense	probably null
Z1177:Abtb2	UTSW	2	103711196	missense	probably damaging	1.00

Posted On

2013-06-28