Mutagenetix > Incidental Mutation

Incidental Mutation 'R4900:Abtb2'

376065

Institutional Source

Beutler Lab

Gene Symbol

Abtb2

Ensembl Gene

ENSMUSG00000032724

Gene Name

ankyrin repeat and BTB (POZ) domain containing 2

Synonyms

MMRRC Submission

042504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103566310-103718423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103567004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 93 (E93G)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

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

AlphaFold

Q7TQI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076212
AA Change: E93G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: E93G

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

0.3286

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,918,110	V262A	probably benign	Het
Adam5	A	C	8: 24,742,156		probably null	Het
Adam5	G	A	8: 24,781,603	T596I	probably damaging	Het
Adgrb2	T	A	4: 130,013,875	Y1001N	probably damaging	Het
Aox2	T	G	1: 58,305,385	S546A	probably benign	Het
Asic2	T	C	11: 81,573,454		probably benign	Het
Bcl11b	T	A	12: 107,989,698	N64I	probably damaging	Het
Cacna1g	A	G	11: 94,459,351	F556S	possibly damaging	Het
Cbl	A	G	9: 44,152,869	V790A	probably benign	Het
Cd300c2	A	T	11: 115,000,981	C22*	probably null	Het
Cdh11	C	T	8: 102,647,458		probably null	Het
Ces2g	C	T	8: 104,967,357	Q442*	probably null	Het
Cps1	A	T	1: 67,160,904	T404S	probably damaging	Het
Csf2rb2	A	T	15: 78,285,974		probably null	Het
Csmd2	A	G	4: 128,452,525	Y1526C	probably benign	Het
Cyp2a12	C	T	7: 27,031,215	Q202*	probably null	Het
Cyp2c39	G	A	19: 39,513,576	M136I	probably benign	Het
Cyp2j13	G	A	4: 96,059,043	T257I	probably damaging	Het
Dnah8	T	A	17: 30,746,975	L2427Q	probably damaging	Het
Dopey2	G	T	16: 93,763,430		probably null	Het
Epcam	T	C	17: 87,643,621	V212A	possibly damaging	Het
Fam189a2	A	G	19: 23,975,426	S507P	possibly damaging	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Flvcr2	T	A	12: 85,782,982	V255D	probably damaging	Het
Galc	G	T	12: 98,231,472	T326K	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gen1	A	T	12: 11,241,560	Y808N	probably benign	Het
Glis1	C	T	4: 107,619,564	A306V	probably damaging	Het
Gm10638	A	G	8: 86,746,400		probably benign	Het
Gm12789	G	A	4: 101,988,985		probably benign	Het
Gm1966	T	G	7: 106,598,586		noncoding transcript	Het
Gm27048	C	T	8: 80,934,599		noncoding transcript	Het
Gm4204	T	C	1: 135,232,818		noncoding transcript	Het
Gm904	A	T	13: 50,645,289	I95F	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Ints11	G	A	4: 155,888,430	D526N	probably benign	Het
Itfg2	A	G	6: 128,416,316		probably benign	Het
Jund	T	C	8: 70,699,605	V183A	probably damaging	Het
Kcnj8	A	G	6: 142,566,495	S129P	probably damaging	Het
Kcnq3	A	G	15: 65,995,410	S795P	probably damaging	Het
Lhx8	G	T	3: 154,330,288	A22E	probably benign	Het
Lrp8	A	G	4: 107,806,809		probably benign	Het
Lvrn	G	T	18: 46,893,701	A789S	probably damaging	Het
Lvrn	T	C	18: 46,881,412	S526P	probably damaging	Het
Mga	T	A	2: 119,964,054	C2622S	possibly damaging	Het
Mroh8	T	C	2: 157,228,727	E568G	probably benign	Het
Ms4a4b	C	A	19: 11,463,139		probably benign	Het
Muc2	T	C	7: 141,749,543	F99S	probably benign	Het
Myo5c	T	A	9: 75,273,543	I738N	probably damaging	Het
Naip6	A	C	13: 100,296,969	V1120G	probably damaging	Het
Ncl	T	C	1: 86,356,179	T307A	probably benign	Het
Npr1	A	T	3: 90,455,965	D869E	possibly damaging	Het
Nup93	A	G	8: 94,286,603	T36A	probably benign	Het
Olfml2b	C	A	1: 170,662,378	T189N	probably damaging	Het
Olfr1255	A	G	2: 89,816,968	N208S	possibly damaging	Het
Olfr877	T	C	9: 37,855,312	F165L	probably benign	Het
P4htm	A	C	9: 108,579,228	W458G	probably damaging	Het
Pdzrn4	G	T	15: 92,770,757	R930L	probably damaging	Het
Pgam5	G	A	5: 110,260,435	A240V	probably damaging	Het
Prex2	T	C	1: 11,149,905		probably benign	Het
Ptpru	T	G	4: 131,788,382	E897A	probably damaging	Het
Rapgef2	A	T	3: 79,074,363	N1256K	probably benign	Het
Rhbdl3	A	G	11: 80,319,613	E64G	probably benign	Het
Sel1l3	A	T	5: 53,131,842	L879Q	probably damaging	Het
Siah1a	G	T	8: 86,725,075	D260E	probably benign	Het
Skint6	T	C	4: 113,067,470	I522V	probably benign	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Smok3c	T	C	5: 138,064,551	I100T	probably damaging	Het
Snx24	C	A	18: 53,385,223	Y141*	probably null	Het
Tigit	A	G	16: 43,649,231	S166P	probably damaging	Het
Tmem183a	C	T	1: 134,348,166	R324Q	probably benign	Het
Tmie	T	C	9: 110,866,933	D130G	possibly damaging	Het
Uggt1	G	A	1: 36,202,855	R333*	probably null	Het
Vmn2r111	T	C	17: 22,548,656	N620S	possibly damaging	Het
Vmn2r12	T	A	5: 109,092,986	N87I	probably damaging	Het
Vmn2r92	A	G	17: 18,184,343	D583G	probably benign	Het
Zdhhc17	T	C	10: 110,985,958	D60G	possibly 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
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
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'- TTCCAAGTCCAACTCGCAG -3'
(R):5'- TAGAGGGACAACGCCTTGAC -3'

Sequencing Primer
(F):5'- AGGCGCTCAACTCTTCGG -3'
(R):5'- TCGAAGCGGGTGCACTTAG -3'

Posted On

2016-03-17