Mutagenetix > Incidental Mutation

Incidental Mutation 'R4625:Abtb1'

346483

Institutional Source

Beutler Lab

Gene Symbol

Abtb1

Ensembl Gene

ENSMUSG00000030083

Gene Name

ankyrin repeat and BTB (POZ) domain containing 1

Synonyms

BPOZ, EF1ABP

MMRRC Submission

041890-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R4625 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

88835914-88841984 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88836287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 466 (A466T)

Ref Sequence

ENSEMBL: ENSMUSP00000032169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032169] [ENSMUST00000203137] [ENSMUST00000203272] [ENSMUST00000203864] [ENSMUST00000204327] [ENSMUST00000204458] [ENSMUST00000204932] [ENSMUST00000205082]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032169
AA Change: A466T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: A466T

Domain	Start	End	E-Value	Type
ANK	1	31	5.03e2	SMART
ANK	35	64	2.81e-4	SMART
BTB	115	212	7.8e-18	SMART
BTB	272	376	4.24e-19	SMART
low complexity region	412	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203120

Predicted Effect

probably benign
Transcript: ENSMUST00000203137

Predicted Effect

probably benign
Transcript: ENSMUST00000203272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203514

Predicted Effect

probably benign
Transcript: ENSMUST00000203864

Predicted Effect

probably benign
Transcript: ENSMUST00000204327

Predicted Effect

probably benign
Transcript: ENSMUST00000204458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204560

Predicted Effect

probably benign
Transcript: ENSMUST00000204932

Predicted Effect

probably benign
Transcript: ENSMUST00000205082

Meta Mutation Damage Score

0.1222

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	C	5: 145,044,883	E176A	possibly damaging	Het
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
4933417A18Rik	G	A	13: 34,932,465	G66S	probably damaging	Het
5830473C10Rik	G	T	5: 90,571,752	V236L	probably damaging	Het
Abcc2	A	G	19: 43,803,739	I320V	probably benign	Het
Ak6	C	A	13: 100,655,673	T208K	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Anapc15	T	A	7: 101,901,032		probably benign	Het
Aspn	A	G	13: 49,557,425	D182G	probably benign	Het
Astn1	A	T	1: 158,580,294	D607V	probably damaging	Het
Btnl1	A	G	17: 34,379,751	I114V	probably null	Het
Ccdc159	A	G	9: 21,929,466	S110G	probably benign	Het
Ccdc94	T	A	17: 55,964,598	L173Q	probably damaging	Het
Cdh18	A	C	15: 22,714,042		probably benign	Het
Cdh22	A	G	2: 165,112,606	I665T	probably damaging	Het
Cenpk	T	A	13: 104,249,393	H265Q	possibly damaging	Het
Chd6	A	G	2: 160,969,492	L1397P	probably damaging	Het
Chia1	A	C	3: 106,128,940	N279H	probably benign	Het
Cyp8b1	T	C	9: 121,915,585	E227G	probably damaging	Het
Dmxl2	A	T	9: 54,404,120	N1772K	possibly damaging	Het
Dnah2	A	G	11: 69,463,661	S2244P	probably damaging	Het
Fshr	T	C	17: 88,985,720	Y510C	probably damaging	Het
Gm21188	G	T	13: 120,035,229	R35S	possibly damaging	Het
Gm5087	T	C	14: 13,158,798		noncoding transcript	Het
Gm7135	A	C	1: 97,459,626		noncoding transcript	Het
Hnrnpll	A	T	17: 80,050,862	Y153*	probably null	Het
Htt	T	A	5: 34,829,785	V1116E	probably damaging	Het
Ikzf5	A	T	7: 131,393,753		probably null	Het
Kcnb1	A	G	2: 167,188,233	S131P	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kctd21	A	G	7: 97,347,575	D85G	probably damaging	Het
Kera	A	G	10: 97,609,631	N284S	probably benign	Het
Kif1a	A	T	1: 93,042,659	D952E	probably benign	Het
Klf4	A	G	4: 55,530,370	V247A	probably benign	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lamc1	A	G	1: 153,242,696	S910P	probably benign	Het
Lin9	T	A	1: 180,689,280	N512K	probably damaging	Het
Mettl7a1	A	T	15: 100,313,058	Q170L	probably damaging	Het
Mroh2a	A	T	1: 88,254,965	N1205I	possibly damaging	Het
Mrps30	A	G	13: 118,386,714	V174A	probably benign	Het
Myo1g	T	C	11: 6,512,240	E574G	probably damaging	Het
Nphp3	G	A	9: 104,036,159	G997R	possibly damaging	Het
Obscn	A	G	11: 59,067,258	C3748R	probably damaging	Het
Olfr346	A	G	2: 36,688,071	D23G	probably benign	Het
Olfr466	T	A	13: 65,152,860	V212D	possibly damaging	Het
Olfr494	T	C	7: 108,367,688	L66P	probably damaging	Het
Olfr945	A	T	9: 39,258,318	M118K	probably damaging	Het
Orc5	G	T	5: 22,548,005	F10L	probably benign	Het
Ptch1	T	C	13: 63,523,164	T851A	probably benign	Het
Ranbp6	A	T	19: 29,810,863	Y696*	probably null	Het
Rbp3	A	G	14: 33,956,099	Q668R	probably benign	Het
Rfwd3	T	C	8: 111,276,358	T611A	probably benign	Het
Rhcg	T	A	7: 79,601,604	D219V	probably damaging	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Slc25a26	G	T	6: 94,507,652	V58F	probably damaging	Het
Smarca5	T	A	8: 80,710,563	K721N	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Speer2	A	T	16: 69,858,754	Y61*	probably null	Het
Spef2	T	C	15: 9,647,438	Y961C	probably damaging	Het
Sptb	C	A	12: 76,587,326		probably null	Het
Svep1	T	G	4: 58,072,698	N2204H	probably damaging	Het
Tmem86a	C	A	7: 47,052,865	P13T	probably damaging	Het
Tmtc2	A	T	10: 105,303,650	S672T	probably benign	Het
Tox2	G	A	2: 163,314,416	S211N	possibly damaging	Het
Trpc6	A	T	9: 8,677,962	E762D	probably benign	Het
Tshb	C	T	3: 102,778,145		probably null	Het
Ttc3	T	A	16: 94,388,272	L163*	probably null	Het
Twsg1	G	T	17: 65,929,551	D161E	probably benign	Het
Uchl4	A	C	9: 64,235,798	D187A	probably damaging	Het
Vmn2r104	A	T	17: 20,048,181	W9R	probably benign	Het
Zfp14	G	A	7: 30,038,595	Q322*	probably null	Het
Znhit3	G	A	11: 84,911,490	P145S	probably damaging	Het

Other mutations in Abtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01487:Abtb1	APN	6	88839449	missense	probably damaging	0.98
IGL02264:Abtb1	APN	6	88836535	missense	probably benign	0.00
IGL02376:Abtb1	APN	6	88838484	splice site	probably benign
IGL02702:Abtb1	APN	6	88838138	missense	probably benign
IGL03132:Abtb1	APN	6	88838959	missense	probably benign	0.01
IGL03266:Abtb1	APN	6	88838934	missense	probably damaging	0.97
PIT4243001:Abtb1	UTSW	6	88838726	missense	probably benign	0.16
PIT4418001:Abtb1	UTSW	6	88839648	missense	possibly damaging	0.78
R0331:Abtb1	UTSW	6	88840702	unclassified	probably benign
R0763:Abtb1	UTSW	6	88838279	missense	probably damaging	0.96
R1565:Abtb1	UTSW	6	88836554	missense	probably benign	0.03
R1796:Abtb1	UTSW	6	88836619	missense	possibly damaging	0.68
R1822:Abtb1	UTSW	6	88836554	missense	probably benign	0.03
R1824:Abtb1	UTSW	6	88836554	missense	probably benign	0.03
R2225:Abtb1	UTSW	6	88836367	missense	probably damaging	1.00
R2227:Abtb1	UTSW	6	88836367	missense	probably damaging	1.00
R2399:Abtb1	UTSW	6	88838738	missense	possibly damaging	0.89
R4394:Abtb1	UTSW	6	88836584	missense	probably damaging	0.96
R5312:Abtb1	UTSW	6	88838258	missense	probably damaging	1.00
R5552:Abtb1	UTSW	6	88836548	missense	probably benign	0.04
R6035:Abtb1	UTSW	6	88841806	missense	probably damaging	1.00
R6035:Abtb1	UTSW	6	88841806	missense	probably damaging	1.00
R6092:Abtb1	UTSW	6	88838451	missense	probably benign
R6195:Abtb1	UTSW	6	88840736	missense	probably benign	0.04
R7257:Abtb1	UTSW	6	88839452	missense	probably benign	0.01
R9547:Abtb1	UTSW	6	88838935	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGGACTAAGTTCAAAGCCTACC -3'
(R):5'- TGCTTCTCTGCAGCTGGTAG -3'

Sequencing Primer
(F):5'- GGTGCCTGCCCCAAATCTTG -3'
(R):5'- CTGGTAGAGCGGGAGGATTTC -3'

Posted On

2015-09-25