Mutagenetix > Incidental Mutation

Incidental Mutation 'R8700:Abtb2'

668977

Institutional Source

Beutler Lab

Gene Symbol

Abtb2

Ensembl Gene

ENSMUSG00000032724

Gene Name

ankyrin repeat and BTB (POZ) domain containing 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103566310-103718423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103566944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 73 (T73K)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

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

AlphaFold

Q7TQI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076212
AA Change: T73K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: T73K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,292,025	I1717N	possibly damaging	Het
4933414I15Rik	T	A	11: 50,942,517	D86V	unknown	Het
Akr1c14	T	C	13: 4,081,157		probably benign	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ano7	T	G	1: 93,388,607	I204S	probably damaging	Het
Arhgef39	T	A	4: 43,496,715	Q333L	probably benign	Het
Art5	T	C	7: 102,099,655		probably benign	Het
Asah1	T	C	8: 41,360,275	T34A	probably benign	Het
Atp9b	T	C	18: 80,753,146	E894G		Het
Atxn7l3	A	T	11: 102,293,921	M126K	possibly damaging	Het
Cacna2d4	A	G	6: 119,281,693	D580G	probably damaging	Het
Calcoco2	T	A	11: 96,103,504	K74N	probably benign	Het
Ccdc163	T	C	4: 116,714,151		probably null	Het
Cep164	T	C	9: 45,775,369		probably null	Het
Chd7	T	A	4: 8,833,892	N1215K	probably damaging	Het
Chsy3	T	C	18: 59,176,415	Y247H	probably damaging	Het
Clec16a	A	G	16: 10,688,558	Y714C	probably damaging	Het
Col12a1	A	G	9: 79,620,089	V2653A	probably benign	Het
D430042O09Rik	A	G	7: 125,829,870		probably benign	Het
Daam2	T	A	17: 49,496,152	K77N	probably damaging	Het
Dhx35	T	A	2: 158,840,632	M495K	possibly damaging	Het
Disp2	T	A	2: 118,789,859	C357*	probably null	Het
Dnah6	T	A	6: 73,075,890		probably benign	Het
Dnah7a	T	G	1: 53,495,929	D2724A	possibly damaging	Het
Entpd5	A	T	12: 84,396,734	D53E	probably damaging	Het
Fto	T	A	8: 91,522,833	I431N	probably damaging	Het
Gabrr2	T	C	4: 33,095,488	I459T	probably damaging	Het
Gm5565	T	A	5: 146,160,426	I29F	probably damaging	Het
Gm9195	C	T	14: 72,482,731	G87R	probably damaging	Het
Grin2a	T	C	16: 9,579,548	S892G	probably benign	Het
Mki67	T	C	7: 135,705,707	N106S		Het
Myo16	T	C	8: 10,413,172	S580P	unknown	Het
Neo1	A	G	9: 58,918,630	S672P	probably benign	Het
Nxph3	A	T	11: 95,510,880	V236E	probably damaging	Het
Olfr1406	G	T	1: 173,183,862	P191T	probably benign	Het
Olfr863-ps1	A	C	9: 19,941,700	L247V	unknown	Het
Pcdhb14	T	C	18: 37,449,599	V586A	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pja2	C	T	17: 64,292,954	D512N	probably damaging	Het
Ppfibp2	A	G	7: 107,746,395	T875A	possibly damaging	Het
Ppp3cc	C	A	14: 70,236,552	C332F	probably damaging	Het
Pramef25	T	A	4: 143,949,131	H375L	possibly damaging	Het
Psg18	A	T	7: 18,353,625	V36D	probably damaging	Het
Ptprh	A	G	7: 4,564,191	S561P	probably damaging	Het
Rhbdf2	G	A	11: 116,607,404		probably benign	Het
Ripk2	T	A	4: 16,158,422	N61I	possibly damaging	Het
Setdb2	T	C	14: 59,417,439	Y318C	probably damaging	Het
Shc1	A	G	3: 89,427,433	D533G	possibly damaging	Het
Sirpb1a	T	C	3: 15,411,359	E193G	probably damaging	Het
Slc41a2	T	C	10: 83,316,233	E126G	probably damaging	Het
Srms	C	A	2: 181,206,728	A413S	probably damaging	Het
Tob2	G	T	15: 81,851,601	R56S	probably damaging	Het
Unc119	T	C	11: 78,347,311	I105T	probably benign	Het
Unc13c	T	C	9: 73,572,397	I1742V	probably benign	Het
Vmn1r46	C	T	6: 89,976,343	T58I	probably benign	Het
Vmn2r81	G	T	10: 79,293,683	V803F	probably damaging	Het
Zfp365	T	C	10: 67,909,705	K81R	possibly damaging	Het
Zfp974	G	T	7: 27,910,047	T751K	possibly damaging	Het
Zfpl1	T	C	19: 6,082,434	N149S	probably benign	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
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
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'- AGGACTTGACCTTGGACTCC -3'
(R):5'- TCATGCTGTAGAGGGACAACG -3'

Sequencing Primer
(F):5'- ACCTTGGACTCCGGGTATG -3'
(R):5'- CTGTAGAGGGACAACGCCTTG -3'

Posted On

2021-04-30