Mutagenetix > Incidental Mutation

Incidental Mutation 'R7199:Abtb2'

560133

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 #

R7199 (G1)

Quality Score

205.009

Status

Not validated

Chromosome

Chromosomal Location

103566310-103718423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103567220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 165 (V165A)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

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

AlphaFold

Q7TQI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076212
AA Change: V165A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: V165A

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,759,014	T39A	probably damaging	Het
5430419D17Rik	G	A	7: 131,235,912	W512*	probably null	Het
Abca3	G	A	17: 24,377,707	G378D	probably damaging	Het
Ache	A	G	5: 137,290,242	E70G	probably damaging	Het
Adamtsl4	T	C	3: 95,680,809	T623A	probably benign	Het
Ahdc1	G	A	4: 133,064,624	V1059I	probably benign	Het
Ajuba	G	A	14: 54,573,458	Q357*	probably null	Het
Ano7	A	T	1: 93,402,978	D54V		Het
Apob	A	T	12: 8,005,072	D1357V	probably damaging	Het
Atad2b	T	A	12: 5,017,992	Y997N	probably damaging	Het
Bhlhe22	C	A	3: 18,055,842	T352K	probably damaging	Het
Bsn	T	C	9: 108,115,334	E1073G	probably damaging	Het
Bzw2	G	A	12: 36,130,055	R58*	probably null	Het
C7	G	T	15: 4,994,243	S694R	probably benign	Het
Cbr2	T	A	11: 120,730,261	H170L	probably benign	Het
Ckap2l	T	C	2: 129,285,055	N401S	probably benign	Het
Cldn1	A	G	16: 26,371,596	F11L	probably benign	Het
Cmtr1	A	G	17: 29,676,200	T118A	probably benign	Het
Cog6	T	C	3: 52,983,189	E610G	probably benign	Het
Col3a1	G	T	1: 45,332,141	A451S	probably null	Het
Cr1l	T	A	1: 195,117,570	R265S	probably benign	Het
Dapk1	T	C	13: 60,754,210	I951T	probably benign	Het
Dnah9	T	C	11: 66,118,944	N706D	probably benign	Het
Dpysl5	A	T	5: 30,783,195	T239S	probably benign	Het
Ect2l	T	A	10: 18,129,146	Y913F	probably benign	Het
Elf5	C	A	2: 103,439,296	A74D	possibly damaging	Het
Erap1	T	C	13: 74,666,139	V399A	probably benign	Het
Ercc4	A	G	16: 13,147,793	D763G	probably damaging	Het
Fam222b	T	A	11: 78,154,857	C415S	possibly damaging	Het
Fat4	A	C	3: 38,977,362	N2432T	probably damaging	Het
Fbn2	G	T	18: 58,053,761	C1689*	probably null	Het
Frrs1l	T	A	4: 56,972,282	T140S	probably damaging	Het
Gm14025	A	G	2: 129,038,318	S563P		Het
Gm5141	A	T	13: 62,777,063	H10Q	possibly damaging	Het
Inafm1	A	T	7: 16,273,154	L46Q	probably damaging	Het
Irak2	T	C	6: 113,673,084	L260P	probably damaging	Het
Kat2b	T	C	17: 53,670,678	L751P	probably damaging	Het
Kcnh1	T	A	1: 192,337,605	I413N	probably benign	Het
Kirrel	T	C	3: 87,083,388	D709G	probably benign	Het
Lama4	T	C	10: 39,080,540	V1153A	possibly damaging	Het
Lipg	A	T	18: 74,955,584	F98L	probably benign	Het
Lman1	T	C	18: 65,994,865	E236G	probably damaging	Het
Lrp1	T	A	10: 127,573,456	D1598V	probably damaging	Het
Lrrc71	T	A	3: 87,743,077	N230Y	probably damaging	Het
Maneal	T	C	4: 124,857,190	S258G	possibly damaging	Het
March10	T	A	11: 105,390,706	E251V	probably damaging	Het
Mb21d1	C	A	9: 78,433,033	K472N	probably benign	Het
Mpdz	A	G	4: 81,297,333	I1484T	probably damaging	Het
Mtcl1	T	A	17: 66,340,539	N1882I	probably benign	Het
Neb	G	A	2: 52,220,200	A212V	probably benign	Het
Obscn	G	A	11: 59,012,846	S7434L	probably benign	Het
Olfr1297	T	C	2: 111,621,193	M294V	probably benign	Het
Olfr340	A	T	2: 36,452,860	I92F	probably damaging	Het
Olfr51	T	A	11: 51,007,396	C141*	probably null	Het
Olfr761	A	C	17: 37,952,157	I289S	probably damaging	Het
Olfr971	A	G	9: 39,839,457	M8V	probably benign	Het
Orc6	T	C	8: 85,302,961		probably null	Het
Otogl	T	G	10: 107,874,533	E565A	possibly damaging	Het
Papss1	A	G	3: 131,585,138	Q214R	probably benign	Het
Pck2	G	A	14: 55,548,712	V653M	probably benign	Het
Plxna4	G	A	6: 32,215,178	Q826*	probably null	Het
Pms1	T	A	1: 53,256,730	T161S	probably benign	Het
Prkar2a	C	A	9: 108,740,470	N242K	probably damaging	Het
Prss1	T	A	6: 41,462,756	I141N	probably damaging	Het
Puf60	A	G	15: 76,071,868	V235A	probably damaging	Het
Rapgef6	T	A	11: 54,546,426	F65Y	probably benign	Het
Rasgef1b	T	C	5: 99,300,039	E104G	unknown	Het
Rcn3	T	C	7: 45,084,909	Y225C	probably damaging	Het
Rhot1	G	C	11: 80,246,734	W354S	probably damaging	Het
Rp1	T	C	1: 4,347,290	S1200G	possibly damaging	Het
Scaper	T	A	9: 55,838,176	K603*	probably null	Het
Selenbp1	G	A	3: 94,944,434	V429I	possibly damaging	Het
Setd5	T	G	6: 113,121,138	S713A	probably benign	Het
Shank1	T	C	7: 44,353,140	Y1428H	possibly damaging	Het
Slc11a1	G	T	1: 74,383,671	W361L	possibly damaging	Het
Spta1	A	T	1: 174,223,271	D1772V	possibly damaging	Het
St8sia6	T	C	2: 13,656,910	H370R	probably damaging	Het
Stkld1	A	T	2: 26,952,714	D566V	probably damaging	Het
Tango6	T	C	8: 106,689,159	V204A	probably benign	Het
Tdrd5	G	A	1: 156,301,723	A139V	probably damaging	Het
Tenm2	A	T	11: 36,171,436	V534E	probably damaging	Het
Tfip11	A	T	5: 112,331,178	Q204L	probably benign	Het
Tlr4	A	T	4: 66,841,193	Q741L	probably damaging	Het
Tmem18	A	G	12: 30,588,655	M111V	probably benign	Het
Togaram1	A	G	12: 64,995,518	N1167S	probably benign	Het
Trappc3	C	T	4: 126,275,152	A145V	possibly damaging	Het
Trbj2-3	T	C	6: 41,543,242	F7S	probably damaging	Het
Vmn1r212	T	A	13: 22,883,561	M201L	probably benign	Het
Xaf1	C	A	11: 72,303,375	C27*	probably null	Het
Zeb1	T	C	18: 5,767,703	V738A	probably benign	Het
Zfp524	A	T	7: 5,017,884	H137L	probably damaging	Het
Zfyve19	A	T	2: 119,216,637	H367L	probably damaging	Het
Zim1	G	A	7: 6,677,873	Q264*	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
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'- TACTCCGGCTCCATGAACAG -3'
(R):5'- GTTCTCCATGCAAGCCGTTAG -3'

Sequencing Primer
(F):5'- CACGGTGAACACAGTGCTG -3'
(R):5'- TACTCATGGATGCGCACG -3'

Posted On

2019-06-26