Mutagenetix > Incidental Mutation

Incidental Mutation 'R6860:Abtb2'

535409

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 #

R6860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103566310-103718423 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 103709425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 712 (R712*)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

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

AlphaFold

Q7TQI7

Predicted Effect

probably null
Transcript: ENSMUST00000076212
AA Change: R712*

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: R712*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,625,100	L58P	probably damaging	Het
4933427D14Rik	T	C	11: 72,189,586	E418G	probably damaging	Het
9930012K11Rik	C	A	14: 70,157,622	V28L	possibly damaging	Het
Acvr1c	C	T	2: 58,287,705	G171S	probably damaging	Het
Ahctf1	G	T	1: 179,753,288	A1783E	probably benign	Het
Anapc4	A	T	5: 52,848,828	Q149L	probably damaging	Het
Ankrd27	T	C	7: 35,628,527	V824A	possibly damaging	Het
Ankrd31	G	C	13: 96,831,586	C577S	probably benign	Het
Apol7c	T	C	15: 77,526,074	N224S	probably benign	Het
Arl14	A	T	3: 69,222,696	T59S	probably benign	Het
Astn1	T	A	1: 158,612,472	I870K	probably damaging	Het
B4galt1	A	T	4: 40,807,796	V335E	probably benign	Het
C2cd3	C	T	7: 100,390,241	P216S	probably benign	Het
Cchcr1	C	A	17: 35,529,118	N711K	possibly damaging	Het
Chd2	A	G	7: 73,497,810	F467L	possibly damaging	Het
Cntn6	A	T	6: 104,861,946	E987V	possibly damaging	Het
Col11a2	T	A	17: 34,053,598	L286H	probably damaging	Het
Cwc22	C	T	2: 77,929,448	R85Q	possibly damaging	Het
Cyp7a1	A	C	4: 6,272,587	F209V	probably damaging	Het
Dmtn	T	C	14: 70,614,882	T189A	possibly damaging	Het
Dnhd1	C	G	7: 105,678,266	N777K	probably benign	Het
Dusp16	A	T	6: 134,725,879	C216*	probably null	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbn1	T	C	2: 125,328,158	N1993S	probably damaging	Het
Fbxw22	A	G	9: 109,383,962	S306P	probably benign	Het
Ferd3l	T	C	12: 33,928,652	S55P	probably benign	Het
Fpr-rs3	A	G	17: 20,624,298	S194P	possibly damaging	Het
Gm19965	G	A	1: 116,820,879	D97N	probably benign	Het
Gtpbp2	A	G	17: 46,167,988		probably benign	Het
Hcn3	A	C	3: 89,159,845	I72S	possibly damaging	Het
Hist1h3f	G	T	13: 23,544,590	V36L	probably benign	Het
Hk3	T	A	13: 55,014,465	N109Y	probably damaging	Het
Iqub	T	C	6: 24,505,738	E57G	possibly damaging	Het
Kcnk3	T	A	5: 30,622,053	M149K	possibly damaging	Het
Kcp	C	T	6: 29,505,720	G51D	probably benign	Het
Kif26a	C	A	12: 112,146,829	A53D	probably damaging	Het
Lifr	T	A	15: 7,172,937	I353K	probably benign	Het
Llph	A	T	10: 120,231,284	N102I	probably damaging	Het
Lmo3	C	A	6: 138,416,568	R18L	possibly damaging	Het
Lrrc46	T	C	11: 97,035,545	E175G	probably benign	Het
Ltk	A	T	2: 119,754,594	C128*	probably null	Het
Map1b	T	C	13: 99,434,767	E482G	probably damaging	Het
Mapk8ip2	T	C	15: 89,460,452	V740A	probably damaging	Het
Miga2	T	C	2: 30,371,163	W157R	probably benign	Het
Mlip	A	G	9: 77,102,393	*837Q	probably null	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Myl1	T	C	1: 66,945,058		probably benign	Het
Olfr365	T	C	2: 37,202,177	L312P	possibly damaging	Het
Olfr448	T	C	6: 42,896,816	Y122H	probably benign	Het
Olfr613	A	G	7: 103,551,868	I28V	probably benign	Het
P3h3	A	T	6: 124,857,368	V107D	probably benign	Het
Papolb	A	T	5: 142,528,896	S331T	possibly damaging	Het
Pars2	T	G	4: 106,654,503	V494G	probably benign	Het
Pcdhb3	C	A	18: 37,301,710	T243K	probably benign	Het
Pde9a	T	A	17: 31,470,724	M415K	probably damaging	Het
Ppp1r9b	G	A	11: 94,992,148	A201T	probably benign	Het
Prl	A	G	13: 27,064,959	N197S	possibly damaging	Het
Prl2c1	T	A	13: 27,851,741	M32K	probably benign	Het
Prrt4	T	C	6: 29,170,738	S572G	possibly damaging	Het
Psd	T	A	19: 46,322,419	D397V	probably damaging	Het
Psme2b	A	T	11: 48,945,480	Y213*	probably null	Het
Ptcd3	T	A	6: 71,897,110		probably null	Het
Ptprk	T	G	10: 28,334,484	F167L	probably damaging	Het
Rfx7	T	C	9: 72,616,944	V472A	probably damaging	Het
Scnn1g	T	C	7: 121,740,353	L125S	probably damaging	Het
Sec16a	T	C	2: 26,430,112	Y1438C	probably damaging	Het
Serinc3	C	T	2: 163,634,446	S155N	probably benign	Het
Slc3a2	A	T	19: 8,713,632	V78E	probably damaging	Het
Slc44a4	T	A	17: 34,921,068	L23Q	probably damaging	Het
Slco5a1	C	T	1: 12,881,196		probably benign	Het
Slit1	A	G	19: 41,616,715	M899T	probably benign	Het
Sorl1	A	G	9: 42,022,392	I1094T	probably benign	Het
Spag9	T	A	11: 94,081,370	L258Q	probably benign	Het
Strip1	T	C	3: 107,618,936	E488G	possibly damaging	Het
Stx18	G	A	5: 38,104,891	D30N	possibly damaging	Het
Sync	T	C	4: 129,287,790		probably null	Het
Syncrip	A	G	9: 88,476,796	V220A	probably damaging	Het
Tagln2	T	C	1: 172,505,909	I110T	probably benign	Het
Taok1	T	C	11: 77,541,801	T729A	probably benign	Het
Tgfbrap1	C	T	1: 43,067,599	V75I	possibly damaging	Het
Tnfrsf21	A	G	17: 43,017,066	T24A	probably benign	Het
Tnxb	T	A	17: 34,713,157	D2221E	probably damaging	Het
Triml1	A	G	8: 43,130,566	S333P	probably damaging	Het
Trp53bp1	C	A	2: 121,199,113	R1862L	probably damaging	Het
Tsc22d1	T	G	14: 76,418,292	I737S	possibly damaging	Het
U2af2	A	T	7: 5,079,274	K462N	possibly damaging	Het
Ubap2	A	C	4: 41,233,631	N86K	probably damaging	Het
Uso1	A	G	5: 92,195,348	K764E	probably benign	Het
Vmn1r192	T	A	13: 22,187,952	M33L	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
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
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'- GGGCTCTATAATATAGCTCAGTTGGG -3'
(R):5'- ATGACTGTTCCCATGTGCCC -3'

Sequencing Primer
(F):5'- GGATTCCAGGGCTCATTTTGCTATC -3'
(R):5'- TGCCCATGCACTGTGTG -3'

Posted On

2018-09-12