Mutagenetix > Incidental Mutation

Incidental Mutation 'R5513:Abtb2'

440160

Institutional Source

Beutler Lab

Gene Symbol

Abtb2

Ensembl Gene

ENSMUSG00000032724

Gene Name

ankyrin repeat and BTB (POZ) domain containing 2

Synonyms

MMRRC Submission

043073-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5513 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

103566310-103718423 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 103709278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

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

AlphaFold

Q7TQI7

Predicted Effect

probably null
Transcript: ENSMUST00000076212

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724

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

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	G	A	1: 105,750,973	V1130I	probably damaging	Het
Akr1b3	C	A	6: 34,316,646		probably benign	Het
Alppl2	T	A	1: 87,087,338	N434Y	probably benign	Het
Ampd2	A	G	3: 108,075,667	I648T	possibly damaging	Het
Ankrd11	T	C	8: 122,892,520	E1510G	probably benign	Het
Ano2	A	C	6: 126,039,322	K939N	possibly damaging	Het
Arhgef5	A	G	6: 43,272,339	Y8C	probably damaging	Het
Aspm	A	T	1: 139,482,398	I2609F	probably damaging	Het
Camsap2	A	T	1: 136,280,863	S964T	probably benign	Het
Cd22	C	T	7: 30,867,025	R823Q	probably damaging	Het
Cd74	T	C	18: 60,811,305	C196R	probably damaging	Het
Cfap73	A	T	5: 120,631,712	I82N	probably damaging	Het
Cidec	A	T	6: 113,428,179	Y177N	probably damaging	Het
Crb1	C	T	1: 139,236,821		probably null	Het
Cts7	T	C	13: 61,355,584	K189E	possibly damaging	Het
Cyp2c68	A	T	19: 39,703,406	Y358N	probably damaging	Het
Dab2ip	A	T	2: 35,710,254	H294L	probably benign	Het
Dnah6	T	C	6: 73,190,419	D502G	probably null	Het
Dnah8	T	A	17: 30,752,916	M2768K	probably damaging	Het
Etl4	C	A	2: 20,743,827	S405R	probably damaging	Het
Fsip2	G	T	2: 82,950,908	L19F	probably damaging	Het
Fsip2	C	G	2: 82,950,912	Q217E	probably benign	Het
Fsip2	T	A	2: 82,985,198	N3758K	possibly damaging	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Hivep2	A	T	10: 14,132,673	K1672*	probably null	Het
Igkv2-137	G	A	6: 67,556,014	G54S	possibly damaging	Het
Ints8	A	G	4: 11,248,303	V105A	possibly damaging	Het
Lrba	C	T	3: 86,542,641	S2089F	probably damaging	Het
Lrrc8b	A	G	5: 105,485,984	K774R	probably damaging	Het
Mcm4	T	A	16: 15,630,514	Y393F	probably benign	Het
Mki67	A	G	7: 135,707,750	L324P	probably damaging	Het
Olfr12	T	C	1: 92,620,380	V158A	probably benign	Het
Olfr1428	A	G	19: 12,109,381	L55P	probably damaging	Het
Olfr1441	G	A	19: 12,422,683	V125I	probably benign	Het
Olfr665	A	T	7: 104,881,499	H264L	probably damaging	Het
Pld4	A	G	12: 112,762,554	E19G	probably benign	Het
Plvap	T	C	8: 71,511,529	E63G	probably damaging	Het
Ppig	A	G	2: 69,750,359	T746A	probably benign	Het
Prdm2	GCTCCTCCTCCTCCTCCTCCTCCTC	GCTCCTCCTCCTCCTCCTCCTC	4: 143,135,893		probably benign	Het
Rbm15b	A	G	9: 106,886,117	L284P	probably benign	Het
Rhbdl3	T	C	11: 80,331,842	V239A	probably damaging	Het
Sae1	T	C	7: 16,366,856	E197G	probably benign	Het
Sdhaf2	C	T	19: 10,517,030	R105H	probably damaging	Het
Senp3	T	C	11: 69,677,139	D425G	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc46a1	T	C	11: 78,466,550	F143S	probably benign	Het
Tom1	T	A	8: 75,057,220	N52K	probably damaging	Het
Vmn1r11	A	T	6: 57,137,632	T94S	probably damaging	Het
Zfp236	A	G	18: 82,658,022	I390T	probably damaging	Het
Zfp709	A	T	8: 71,890,056	H443L	probably damaging	Het
Zfp960	C	T	17: 17,087,734	P237S	possibly damaging	Het

Other mutations in Abtb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Abtb2	APN	2	103705118	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GAGATCACACAGCCAAGTGC -3'
(R):5'- GTAGTACATGGCTTCCTGCAG -3'

Sequencing Primer
(F):5'- AGTGCAGAGCTATGACTCCTCAG -3'
(R):5'- TGCAGGGCCTTCGTTCG -3'

Posted On

2016-11-08