Mutagenetix > Incidental Mutation

Incidental Mutation 'R9427:Abtb2'

712657

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 #

R9427 (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 103700899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 458 (L458P)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

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

AlphaFold

Q7TQI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076212
AA Change: L458P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: L458P

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: 99.6%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,820,432	N130S		Het
Adgrv1	T	C	13: 81,584,115	S161G	probably benign	Het
Aldh1l1	A	G	6: 90,559,921	D153G	probably benign	Het
Arhgap20	G	A	9: 51,843,691	S444N	probably damaging	Het
Bpifc	A	G	10: 85,976,265	F360L	probably benign	Het
Cacna1s	A	T	1: 136,084,352	I511F	probably benign	Het
Chdh	G	A	14: 30,036,849	V584I	probably benign	Het
Col12a1	T	C	9: 79,682,163	R1037G	probably benign	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Col6a5	T	C	9: 105,939,793	N440D	unknown	Het
Dsel	A	T	1: 111,859,695	Y1037N	probably damaging	Het
Eloa	A	G	4: 136,021,624	M1T	probably null	Het
Elp2	C	G	18: 24,622,503	P436A	probably damaging	Het
Etv5	A	C	16: 22,399,362	S328A	probably damaging	Het
Fat3	A	T	9: 16,377,395	Y277*	probably null	Het
Fbxo38	A	T	18: 62,511,089	H899Q	probably benign	Het
Fstl5	T	C	3: 76,322,276	V128A		Het
Gm14548	T	G	7: 3,894,285		probably null	Het
Gm3371	T	C	14: 44,403,609	E166G		Het
Herc6	T	C	6: 57,659,737	S813P	probably damaging	Het
Ifnlr1	G	A	4: 135,698,831	G75D	probably damaging	Het
Kbtbd2	A	T	6: 56,779,147	C535S	probably damaging	Het
Lgr5	A	C	10: 115,453,008	L577W	probably damaging	Het
Limk1	A	T	5: 134,657,504	D590E	probably benign	Het
Lnpep	A	T	17: 17,575,347	S301T	probably benign	Het
Lrch1	A	C	14: 74,795,347	V521G	probably benign	Het
Lrrc71	T	C	3: 87,743,061	H235R	probably benign	Het
Mttp	A	G	3: 138,115,201	S282P	probably benign	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Olfr1025-ps1	T	C	2: 85,918,360	V145A	probably benign	Het
Olfr1356	A	G	10: 78,847,072	V281A	probably damaging	Het
Olfr1441	T	C	19: 12,422,525	V72A		Het
Olfr31	G	A	14: 14,328,456	G115D	probably damaging	Het
Olfr545	T	A	7: 102,493,999	T259S	probably benign	Het
Olfr57	C	T	10: 79,035,561	T255I	probably damaging	Het
Ppfia3	T	C	7: 45,358,789	Q219R	possibly damaging	Het
Prdm5	T	A	6: 65,794,337	M44K	possibly damaging	Het
Psmc5	T	C	11: 106,262,477	I315T	probably damaging	Het
Ptprd	T	A	4: 76,133,203	E27V	probably benign	Het
Rft1	T	A	14: 30,689,824	I443N	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,579,909		probably benign	Het
Slco1a5	A	G	6: 142,268,275	M40T	probably damaging	Het
Svep1	T	C	4: 58,069,804	T2661A	possibly damaging	Het
Tigit	T	C	16: 43,662,152	D73G	probably benign	Het
Tmem237	G	A	1: 59,120,054		probably benign	Het
Trim42	T	C	9: 97,365,821	D274G	probably damaging	Het
Trmt61a	C	A	12: 111,681,056	L196I	probably damaging	Het
Tspan8	T	C	10: 115,833,308	C83R	probably damaging	Het
Ttc7	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTG	17: 87,370,719		probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Unc80	G	A	1: 66,554,999	G1179E	probably damaging	Het
Vmn2r2	A	G	3: 64,134,524	S257P	probably damaging	Het
Xpo6	G	T	7: 126,149,246	Y404*	probably null	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
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'- TCTGTGTGCAGGGAACACTG -3'
(R):5'- GGGTAGCACTACAGCAATTACAG -3'

Sequencing Primer
(F):5'- GGGAACACTGCACCCAG -3'
(R):5'- CACTTGGCTATGGGGGATATGAAC -3'

Posted On

2022-05-16