Mutagenetix > Incidental Mutation

Incidental Mutation 'R9343:Abtb2'

715968

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 #

R9343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103566310-103718423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103717160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 960 (I960V)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028608] [ENSMUST00000076212]

AlphaFold

Q7TQI7

Predicted Effect

probably benign
Transcript: ENSMUST00000028608

SMART Domains

Protein: ENSMUSP00000028608
Gene: ENSMUSG00000027185

Domain	Start	End	E-Value	Type
Pfam:DUF1726	107	201	6.9e-39	PFAM
low complexity region	226	242	N/A	INTRINSIC
Pfam:Helicase_RecD	281	488	1.3e-68	PFAM
Pfam:GNAT_acetyltr_2	528	753	7e-103	PFAM
Pfam:tRNA_bind_2	771	892	3.6e-46	PFAM
low complexity region	999	1024	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076212
AA Change: I960V

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

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: I960V

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: 98.7%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 81,092,331	D632G	probably benign	Het
Aplp2	A	T	9: 31,211,639	L30Q	unknown	Het
Axl	A	T	7: 25,774,119	Y361N	probably damaging	Het
Brinp2	A	T	1: 158,249,520		probably benign	Het
Bsn	T	C	9: 108,115,502	D1017G	probably damaging	Het
Cc2d2a	A	T	5: 43,718,657	D1046V	probably damaging	Het
Cdc42bpg	G	A	19: 6,314,523	G594S	probably damaging	Het
Clcn6	A	G	4: 148,014,001	S519P	probably benign	Het
Cnot2	T	G	10: 116,510,421	H92P		Het
Col2a1	T	C	15: 97,979,894	D1049G	probably damaging	Het
Creld1	C	T	6: 113,489,767	A237V	probably benign	Het
Csf2rb2	A	T	15: 78,287,087		probably benign	Het
Csmd3	G	A	15: 48,151,605	T643I	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fcmr	A	T	1: 130,874,335	T109S		Het
Grap	C	A	11: 61,671,725	P174Q	possibly damaging	Het
Itgb5	T	A	16: 33,910,456		probably benign	Het
Kidins220	A	G	12: 25,008,079	N561S	probably damaging	Het
Mkl2	T	C	16: 13,400,927	V479A	probably benign	Het
Mri1	A	T	8: 84,257,167	S32T	probably benign	Het
Muc4	A	T	16: 32,751,153	T344S	possibly damaging	Het
Npc1	A	G	18: 12,201,712	I661T	possibly damaging	Het
Npy1r	A	G	8: 66,704,099	N57S	probably damaging	Het
Pds5b	A	G	5: 150,780,721	D863G	probably damaging	Het
Phf14	T	A	6: 11,961,564	V400D	probably damaging	Het
Polr2l	A	G	7: 141,473,333	I56T	probably benign	Het
Ppat	A	G	5: 76,916,037	I422T	probably benign	Het
Prkcg	T	A	7: 3,310,608	S110R	possibly damaging	Het
Rab7b	A	T	1: 131,711,802		probably benign	Het
Rnf152	A	T	1: 105,284,526	L102Q		Het
Samd12	A	G	15: 53,719,692	V82A	probably damaging	Het
Serpina1e	T	A	12: 103,951,040	R123S	probably benign	Het
Slit1	T	A	19: 41,627,298	N794I	probably damaging	Het
Surf6	T	C	2: 26,892,994	K154R	probably damaging	Het
Tln2	C	T	9: 67,323,071	A71T	probably benign	Het
Trim3	A	G	7: 105,611,466	Y649H	probably benign	Het
Ttll7	T	A	3: 146,961,742	W808R	probably damaging	Het
Tvp23a	T	C	16: 10,427,423	D104G	probably damaging	Het
Upp2	A	G	2: 58,755,327		probably benign	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn1r119	A	G	7: 21,012,433	V8A	probably benign	Het
Vmn1r209	T	A	13: 22,806,376	H48L	probably damaging	Het
Wdr11	T	C	7: 129,630,799		probably null	Het
Zcchc17	T	C	4: 130,316,753	D207G	probably damaging	Het
Zfp78	T	C	7: 6,378,943	S331P	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
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'- GCCAGGGACTCATTAGTGTTC -3'
(R):5'- ACGTAGACAGAATGCACTCG -3'

Sequencing Primer
(F):5'- GTTCTTGGTGACACAACTGAGAC -3'
(R):5'- GTAGACAGAATGCACTCGCTCTG -3'

Posted On

2022-06-15