Mutagenetix > Incidental Mutation

Incidental Mutation 'R7862:Abtb2'

607562

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 #

R7862 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103566310-103718423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103702281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 475 (R475W)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

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

AlphaFold

Q7TQI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076212
AA Change: R475W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: R475W

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: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	C	3: 145,943,869	*181S	probably null	Het
Abcc10	G	T	17: 46,315,532	S661*	probably null	Het
Cep97	T	C	16: 55,905,721	D673G	probably benign	Het
Chaf1b	T	C	16: 93,888,095	M144T	possibly damaging	Het
Chd8	T	C	14: 52,214,277	D1372G	probably damaging	Het
Chmp6	G	A	11: 119,917,010		probably null	Het
Cst12	T	C	2: 148,789,575	V72A	probably damaging	Het
D1Pas1	G	A	1: 186,968,152	G93R	probably damaging	Het
Dhx34	C	A	7: 16,210,523	V589F	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmrta1	C	A	4: 89,688,324	H6N	probably benign	Het
Dopey2	T	C	16: 93,749,963	L285P	probably damaging	Het
Dpy19l1	T	C	9: 24,475,434	Y188C	probably damaging	Het
Ehbp1l1	C	T	19: 5,720,823	R230Q	probably benign	Het
Ep300	T	G	15: 81,650,753	V2337G	probably damaging	Het
Fh1	A	T	1: 175,614,834	V150E	probably damaging	Het
Fkbp11	G	A	15: 98,726,508	R122*	probably null	Het
Fkbp5	C	T	17: 28,412,039	E251K	probably damaging	Het
Fmnl1	A	G	11: 103,180,930	K88E	probably damaging	Het
Frrs1	T	C	3: 116,891,880	V300A	possibly damaging	Het
Glud1	T	G	14: 34,325,522	L198V	possibly damaging	Het
Gsdmc	A	T	15: 63,777,996	W349R	possibly damaging	Het
Hacd1	T	C	2: 14,045,202	H64R	probably damaging	Het
Haus2	T	A	2: 120,613,089	D75E	probably benign	Het
Hmcn1	A	T	1: 150,806,421	F459L	probably damaging	Het
Ighe	A	T	12: 113,271,808	V272E		Het
Iqgap1	C	T	7: 80,743,888	R647H	probably benign	Het
Jmy	T	C	13: 93,499,195	I38V	possibly damaging	Het
Kcnh1	G	T	1: 192,190,859		probably benign	Het
Kctd20	C	T	17: 28,962,875	A167V	probably damaging	Het
Klhl38	A	T	15: 58,314,999	V525E	probably damaging	Het
Krit1	A	G	5: 3,812,788	D259G	probably damaging	Het
Med1	A	T	11: 98,161,210	C443S	probably benign	Het
Mllt6	T	C	11: 97,665,805	V107A	probably benign	Het
Myl7	A	G	11: 5,897,157	M132T	probably benign	Het
Myo10	T	C	15: 25,666,436	V11A	probably damaging	Het
Nipbl	T	C	15: 8,325,752	I1642V	probably benign	Het
Olfr1256	T	C	2: 89,835,124	T274A	probably benign	Het
Olfr807	T	C	10: 129,755,355	T32A	probably benign	Het
Olfr843	C	A	9: 19,249,440		probably benign	Het
Olfr918	C	T	9: 38,673,328	V39M	probably benign	Het
Pcdhb2	C	T	18: 37,296,060	A362V	probably benign	Het
Pnp2	A	T	14: 50,963,559	D167V	possibly damaging	Het
Rasa1	G	A	13: 85,255,411	T282I	probably damaging	Het
Rp1l1	A	G	14: 64,028,027	D354G	probably damaging	Het
Rpap1	C	T	2: 119,775,412		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Shank3	A	G	15: 89,505,445	D415G	possibly damaging	Het
Slc12a1	A	G	2: 125,161,094	I182V	probably damaging	Het
Slc6a13	A	G	6: 121,335,630	Y441C	probably damaging	Het
Sltm	G	T	9: 70,572,164	E193*	probably null	Het
Spag9	T	C	11: 94,112,066	I1134T	possibly damaging	Het
Spta1	G	A	1: 174,197,785		probably null	Het
Stk3	A	G	15: 35,115,586	V29A	possibly damaging	Het
Tgfbr1	A	T	4: 47,403,489	I365F	probably damaging	Het
Thpo	C	T	16: 20,728,790	V24I	probably benign	Het
Tle1	A	C	4: 72,199,315	L36R	probably damaging	Het
Togaram2	T	C	17: 71,689,173	V57A	probably benign	Het
Ttll9	C	T	2: 153,006,975	A459V	probably benign	Het
Ush1c	T	C	7: 46,221,424	I330V	probably damaging	Het
Usp34	T	C	11: 23,464,718	M2906T		Het
Vmn2r28	A	T	7: 5,490,614	M111K	probably benign	Het
Vmn2r97	T	C	17: 18,947,154	C557R	probably damaging	Het
Zfp873	T	A	10: 82,060,275	I280K	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
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
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'- CTATGGCAGAGGTTCTCCAC -3'
(R):5'- TATGCCTGGCCTAGAAGAGTC -3'

Sequencing Primer
(F):5'- AGTCTGTAAAGGGCCGCATC -3'
(R):5'- AGTCCGCAGAAGGTACCTG -3'

Posted On

2019-12-20