Mutagenetix > Incidental Mutation

Incidental Mutation 'R5038:Abtb2'

393090

Institutional Source

Beutler Lab

Gene Symbol

Abtb2

Ensembl Gene

ENSMUSG00000032724

Gene Name

ankyrin repeat and BTB domain containing 2

Synonyms

BPOZ-2

MMRRC Submission

042628-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5038 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

103396655-103548768 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103397408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 113 (G113C)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

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

AlphaFold

Q7TQI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076212
AA Change: G113C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: G113C

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

0.1307

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

94% (64/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	T	11: 11,539,375 (GRCm39)		probably null	Het
Acsm5	A	G	7: 119,134,034 (GRCm39)	T272A	probably damaging	Het
Adprs	C	T	4: 126,211,102 (GRCm39)	E272K	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Atp7b	A	C	8: 22,518,472 (GRCm39)	I122S	possibly damaging	Het
B230219D22Rik	T	C	13: 55,847,288 (GRCm39)	Y134H	probably damaging	Het
Bnc1	A	G	7: 81,618,462 (GRCm39)	S868P	probably damaging	Het
Camta1	T	C	4: 151,229,926 (GRCm39)	E302G	probably damaging	Het
Car1	A	G	3: 14,835,933 (GRCm39)	Y129H	probably damaging	Het
Cdh22	T	C	2: 164,984,197 (GRCm39)	T352A	probably benign	Het
Ckmt2	T	C	13: 92,009,282 (GRCm39)	E215G	probably benign	Het
Cyb5r4	T	G	9: 86,941,130 (GRCm39)		probably null	Het
Dhrs13	A	G	11: 77,923,256 (GRCm39)		probably benign	Het
Dsg1c	G	A	18: 20,397,901 (GRCm39)	A34T	probably benign	Het
Epb41l1	T	C	2: 156,363,330 (GRCm39)	V613A	probably benign	Het
Fam114a1	A	G	5: 65,166,388 (GRCm39)	M240V	probably damaging	Het
Gm15455	T	C	1: 33,877,257 (GRCm39)		noncoding transcript	Het
Herc1	T	G	9: 66,383,742 (GRCm39)		probably benign	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Ifna15	T	C	4: 88,476,266 (GRCm39)	N73D	probably benign	Het
Imp4	A	T	1: 34,482,016 (GRCm39)	L45F	probably damaging	Het
Jak3	G	A	8: 72,138,702 (GRCm39)	A967T	probably damaging	Het
Krtap19-2	A	T	16: 88,670,916 (GRCm39)	Y76*	probably null	Het
Map4k5	A	T	12: 69,871,388 (GRCm39)	N492K	probably damaging	Het
Mycbp2	C	T	14: 103,534,375 (GRCm39)	R372H	probably damaging	Het
Nos2	G	A	11: 78,813,140 (GRCm39)	S16N	probably benign	Het
Nr2c2	A	G	6: 92,116,803 (GRCm39)	T2A	probably damaging	Het
Nup188	T	C	2: 30,199,232 (GRCm39)	Y267H	probably damaging	Het
Nxph2	G	A	2: 23,211,556 (GRCm39)		probably null	Het
Or5b107	T	A	19: 13,142,955 (GRCm39)	D192E	probably benign	Het
Or5b96	T	A	19: 12,867,770 (GRCm39)	H57L	probably damaging	Het
Or9i1b	T	A	19: 13,896,822 (GRCm39)	V146E	possibly damaging	Het
Otof	C	T	5: 30,541,783 (GRCm39)	E761K	possibly damaging	Het
Pik3r1	C	T	13: 101,825,952 (GRCm39)	R37Q	probably damaging	Het
Pkn3	T	C	2: 29,975,293 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Ptpn14	T	C	1: 189,519,083 (GRCm39)	S38P	probably damaging	Het
Raf1	G	A	6: 115,597,196 (GRCm39)	Q35*	probably null	Het
Rps3a1	C	A	3: 86,045,338 (GRCm39)	E251D	probably benign	Het
Scd1	C	T	19: 44,390,148 (GRCm39)	V207M	probably damaging	Het
Shq1	A	G	6: 100,607,954 (GRCm39)	V319A	probably benign	Het
Slc4a8	T	C	15: 100,693,702 (GRCm39)	Y416H	probably damaging	Het
Slco1a5	T	C	6: 142,208,363 (GRCm39)	T143A	probably benign	Het
Slco1a5	C	T	6: 142,212,090 (GRCm39)	G90D	probably damaging	Het
Snx9	T	C	17: 5,937,348 (GRCm39)	V30A	probably benign	Het
Spdya	T	C	17: 71,895,561 (GRCm39)		probably benign	Het
Stat1	A	T	1: 52,162,368 (GRCm39)	N75I	probably damaging	Het
Sv2b	A	T	7: 74,807,173 (GRCm39)	M159K	probably damaging	Het
Tdh	A	T	14: 63,733,575 (GRCm39)	Y89*	probably null	Het
Tmc7	A	G	7: 118,142,588 (GRCm39)	F600S	probably damaging	Het
Trpa1	T	A	1: 14,981,090 (GRCm39)	H104L	probably damaging	Het
Ttn	G	A	2: 76,678,984 (GRCm39)		probably benign	Het
Vmn1r113	A	G	7: 20,521,419 (GRCm39)	I70M	possibly damaging	Het
Vmn1r171	A	G	7: 23,332,188 (GRCm39)	M138V	probably benign	Het
Zfc3h1	G	A	10: 115,240,116 (GRCm39)	V550I	probably benign	Het
Zfp335	G	T	2: 164,752,564 (GRCm39)	S60*	probably null	Het
Zfp7	T	C	15: 76,776,010 (GRCm39)	M684T	probably benign	Het
Zfp984	T	A	4: 147,839,903 (GRCm39)	H316L	probably damaging	Het
Zmym2	T	A	14: 57,193,637 (GRCm39)	Y1151N	possibly damaging	Het

Other mutations in Abtb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Abtb2	APN	2	103,535,463 (GRCm39)	missense	probably benign	0.00
IGL02605:Abtb2	APN	2	103,547,602 (GRCm39)	missense	probably benign
IGL03161:Abtb2	APN	2	103,397,799 (GRCm39)	missense	probably benign	0.02
PIT4504001:Abtb2	UTSW	2	103,547,537 (GRCm39)	nonsense	probably null
R0147:Abtb2	UTSW	2	103,397,480 (GRCm39)	missense	probably benign	0.04
R1052:Abtb2	UTSW	2	103,535,417 (GRCm39)	missense	possibly damaging	0.46
R1419:Abtb2	UTSW	2	103,539,765 (GRCm39)	missense	probably benign	0.00
R1518:Abtb2	UTSW	2	103,539,629 (GRCm39)	missense	probably benign	0.03
R1650:Abtb2	UTSW	2	103,532,747 (GRCm39)	missense	probably damaging	1.00
R1795:Abtb2	UTSW	2	103,397,369 (GRCm39)	missense	probably benign	0.00
R2054:Abtb2	UTSW	2	103,535,462 (GRCm39)	missense	probably benign	0.41
R2101:Abtb2	UTSW	2	103,397,207 (GRCm39)	missense	probably benign	0.05
R2363:Abtb2	UTSW	2	103,397,528 (GRCm39)	missense	probably damaging	1.00
R3440:Abtb2	UTSW	2	103,397,577 (GRCm39)	missense	probably benign	0.43
R3927:Abtb2	UTSW	2	103,538,563 (GRCm39)	splice site	probably null
R4351:Abtb2	UTSW	2	103,513,738 (GRCm39)	missense	possibly damaging	0.46
R4352:Abtb2	UTSW	2	103,513,738 (GRCm39)	missense	possibly damaging	0.46
R4782:Abtb2	UTSW	2	103,547,644 (GRCm39)	missense	probably benign	0.35
R4814:Abtb2	UTSW	2	103,547,632 (GRCm39)	missense	probably benign	0.08
R4831:Abtb2	UTSW	2	103,513,820 (GRCm39)	missense	probably benign	0.06
R4900:Abtb2	UTSW	2	103,397,349 (GRCm39)	missense	possibly damaging	0.62
R5513:Abtb2	UTSW	2	103,539,623 (GRCm39)	critical splice acceptor site	probably null
R6119:Abtb2	UTSW	2	103,532,655 (GRCm39)	missense	probably benign	0.00
R6298:Abtb2	UTSW	2	103,539,833 (GRCm39)	missense	probably benign	0.10
R6383:Abtb2	UTSW	2	103,397,721 (GRCm39)	missense	probably damaging	0.98
R6860:Abtb2	UTSW	2	103,539,770 (GRCm39)	nonsense	probably null
R7000:Abtb2	UTSW	2	103,542,787 (GRCm39)	missense	possibly damaging	0.85
R7109:Abtb2	UTSW	2	103,545,860 (GRCm39)	missense	probably benign	0.20
R7176:Abtb2	UTSW	2	103,539,720 (GRCm39)	missense	probably benign	0.00
R7189:Abtb2	UTSW	2	103,397,861 (GRCm39)	missense	probably benign	0.00
R7199:Abtb2	UTSW	2	103,397,565 (GRCm39)	missense	possibly damaging	0.74
R7299:Abtb2	UTSW	2	103,532,769 (GRCm39)	splice site	probably null
R7347:Abtb2	UTSW	2	103,397,757 (GRCm39)	missense	probably damaging	1.00
R7469:Abtb2	UTSW	2	103,397,292 (GRCm39)	missense	probably benign	0.00
R7629:Abtb2	UTSW	2	103,513,838 (GRCm39)	critical splice donor site	probably null
R7862:Abtb2	UTSW	2	103,532,626 (GRCm39)	missense	probably damaging	1.00
R8200:Abtb2	UTSW	2	103,531,162 (GRCm39)	missense	probably benign	0.02
R8682:Abtb2	UTSW	2	103,397,720 (GRCm39)	missense	probably benign	0.36
R8700:Abtb2	UTSW	2	103,397,289 (GRCm39)	missense	probably damaging	0.99
R9164:Abtb2	UTSW	2	103,541,829 (GRCm39)	missense	possibly damaging	0.50
R9196:Abtb2	UTSW	2	103,513,647 (GRCm39)	missense	possibly damaging	0.71
R9254:Abtb2	UTSW	2	103,541,580 (GRCm39)	missense	probably benign	0.00
R9258:Abtb2	UTSW	2	103,546,410 (GRCm39)	missense	probably null	0.99
R9343:Abtb2	UTSW	2	103,547,505 (GRCm39)	missense	probably benign
R9427:Abtb2	UTSW	2	103,531,244 (GRCm39)	missense	probably damaging	1.00
R9675:Abtb2	UTSW	2	103,538,532 (GRCm39)	missense	probably benign
Z1176:Abtb2	UTSW	2	103,538,517 (GRCm39)	nonsense	probably null
Z1177:Abtb2	UTSW	2	103,541,541 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCCAAGTCCAACTCGCAG -3'
(R):5'- TAGAGGGACAACGCCTTGAC -3'

Sequencing Primer
(F):5'- TCAACTCTTCGGCGCAG -3'
(R):5'- ACAACGCCTTGACCGCTG -3'

Posted On

2016-06-15