Mutagenetix > Incidental Mutation

Incidental Mutation 'R9675:Abtb2'

728287

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 #

R9675 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103566310-103718423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103708187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 654 (F654L)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

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

AlphaFold

Q7TQI7

Predicted Effect

probably benign
Transcript: ENSMUST00000076212
AA Change: F654L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: F654L

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,191,961	P62T	probably damaging	Het
Acta2	A	T	19: 34,246,212	V161E		Het
Adamtsl1	A	C	4: 86,243,752	Y374S	probably damaging	Het
Apc	A	G	18: 34,316,194	K2048E	probably damaging	Het
Arhgef4	C	A	1: 34,806,027	D66E	probably benign	Het
Arsj	T	A	3: 126,438,116	H170Q	probably damaging	Het
Bmpr1b	T	C	3: 141,857,560	K208E	probably benign	Het
Brd4	A	T	17: 32,214,812	M459K	unknown	Het
Btnl10	T	A	11: 58,923,616	L374Q	probably damaging	Het
Cadm1	C	T	9: 47,530,454	R28W	probably damaging	Het
Cts7	A	T	13: 61,356,557	M64K	probably benign	Het
Dmbt1	T	C	7: 131,110,923	L1552P	probably damaging	Het
Dock4	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	12: 40,844,380		probably benign	Het
Dock4	TGCCGG	TGCCGGAGCCGG	12: 40,844,394		probably benign	Het
Dusp4	G	A	8: 34,807,810	G28S	probably benign	Het
Fez2	A	G	17: 78,378,740	C373R	possibly damaging	Het
Fibin	T	C	2: 110,362,150	T216A	probably benign	Het
Gad1	G	A	2: 70,585,856	V220M	probably damaging	Het
Gm8298	C	T	3: 59,877,117	T337I	probably damaging	Het
Hsd17b13	A	G	5: 103,963,843	L278S	probably benign	Het
Hyal5	G	T	6: 24,876,636	E169D	probably benign	Het
Ighv1-15	A	T	12: 114,657,361	C115S	probably damaging	Het
Msl2	T	C	9: 101,101,356	S310P	probably benign	Het
Mss51	A	G	14: 20,487,121	M93T	probably damaging	Het
Npas2	T	C	1: 39,325,365	F263L	probably damaging	Het
Ogfod2	T	C	5: 124,114,389	V177A	probably damaging	Het
Olfr1496	T	G	19: 13,781,275	V219G	possibly damaging	Het
Olfr460	A	G	6: 40,571,625	M80V	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pih1d3	G	A	1: 31,223,563	V209I	probably benign	Het
Pkd2l1	G	T	19: 44,149,257	Q713K	probably benign	Het
Rasgrp1	T	A	2: 117,342,709	M1L	probably benign	Het
Rnf167	T	A	11: 70,650,206	H219Q	possibly damaging	Het
Spatc1	T	A	15: 76,268,320	I50N	probably damaging	Het
Tcf20	T	C	15: 82,856,785	Y155C	probably damaging	Het
Tfpt	T	A	7: 3,620,982	D142V	probably damaging	Het
Trp53bp1	A	G	2: 121,256,608	V189A	probably benign	Het
Ttbk2	T	G	2: 120,806,760	Q141H	probably benign	Het
Zbtb21	A	G	16: 97,951,745	V474A	probably 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
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
Z1176:Abtb2	UTSW	2	103708172	nonsense	probably null
Z1177:Abtb2	UTSW	2	103711196	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATCTTGGAGACCCCATCTGC -3'
(R):5'- TGTCTCCAGGTCTCCAAAGTC -3'

Sequencing Primer
(F):5'- CATCTGCCCCACCTTGG -3'
(R):5'- AAAGTCTTGGGCCTCCATG -3'

Posted On

2022-10-06