Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01531:Abtb3'

89779

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abtb3

Ensembl Gene

ENSMUSG00000020042

Gene Name

ankyrin repeat and BTB domain containing 3

Synonyms

Btbd11, 6330404E16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL01531

Quality Score

Status

Chromosome

Chromosomal Location

85222678-85496156 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 85465069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020231] [ENSMUST00000105306] [ENSMUST00000105307]

AlphaFold

Q6GQW0

Predicted Effect

probably benign
Transcript: ENSMUST00000020231

SMART Domains

Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042

Domain	Start	End	E-Value	Type
low complexity region	101	109	N/A	INTRINSIC
Blast:H2B	122	173	3e-9	BLAST
low complexity region	174	194	N/A	INTRINSIC
Blast:H2A	195	261	6e-37	BLAST
low complexity region	262	285	N/A	INTRINSIC
low complexity region	292	344	N/A	INTRINSIC
Blast:H2A	350	384	9e-16	BLAST
ANK	608	637	2.74e-7	SMART
ANK	654	683	7.3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105306

SMART Domains

Protein: ENSMUSP00000100943
Gene: ENSMUSG00000020042

Domain	Start	End	E-Value	Type
ANK	139	168	2.74e-7	SMART
ANK	185	214	7.3e-3	SMART
ANK	223	252	1.05e-3	SMART
ANK	266	296	2.21e3	SMART
BTB	459	558	5.38e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105307

SMART Domains

Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042

Domain	Start	End	E-Value	Type
low complexity region	101	109	N/A	INTRINSIC
low complexity region	174	194	N/A	INTRINSIC
Blast:H2A	195	261	5e-37	BLAST
low complexity region	262	285	N/A	INTRINSIC
low complexity region	292	344	N/A	INTRINSIC
Blast:H2A	350	384	1e-15	BLAST
ANK	608	637	2.74e-7	SMART
ANK	654	683	7.3e-3	SMART
ANK	692	721	1.05e-3	SMART
ANK	735	765	2.21e3	SMART
BTB	928	1027	5.38e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145323

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,603,494 (GRCm39)		probably null	Het
Adcy1	T	C	11: 7,119,414 (GRCm39)	V1019A	possibly damaging	Het
Blm	A	G	7: 80,123,819 (GRCm39)	Y1004H	probably damaging	Het
Cachd1	A	C	4: 100,810,231 (GRCm39)	I278L	probably benign	Het
Ddx18	T	A	1: 121,492,315 (GRCm39)	T131S	probably benign	Het
Dgkd	T	C	1: 87,808,133 (GRCm39)	F67S	probably damaging	Het
Dlgap1	A	G	17: 70,823,374 (GRCm39)	T120A	probably damaging	Het
Dnaja3	T	G	16: 4,512,268 (GRCm39)	V224G	probably damaging	Het
Dntt	A	T	19: 41,041,677 (GRCm39)	R454*	probably null	Het
Dync2h1	T	A	9: 7,071,111 (GRCm39)	T3083S	probably benign	Het
Eea1	C	A	10: 95,867,539 (GRCm39)	T1045K	probably damaging	Het
Gpnmb	T	A	6: 49,024,392 (GRCm39)		probably benign	Het
Hirip3	A	G	7: 126,462,548 (GRCm39)	E108G	possibly damaging	Het
Il33	C	A	19: 29,929,381 (GRCm39)	Q35K	possibly damaging	Het
Il6ra	G	A	3: 89,793,350 (GRCm39)	L267F	probably damaging	Het
Impact	C	T	18: 13,109,076 (GRCm39)	S69F	probably benign	Het
Klk1b9	G	A	7: 43,441,675 (GRCm39)	G39D	probably damaging	Het
Ldah	A	G	12: 8,277,337 (GRCm39)	D91G	probably benign	Het
Lrp4	T	C	2: 91,341,898 (GRCm39)	L1837P	probably damaging	Het
Mov10l1	T	A	15: 88,938,555 (GRCm39)	H1204Q	probably damaging	Het
Nlrp4c	A	G	7: 6,063,655 (GRCm39)	E21G	probably damaging	Het
Or12k8	T	C	2: 36,975,407 (GRCm39)	M118V	possibly damaging	Het
Or52ae9	T	A	7: 103,390,321 (GRCm39)	N42I	probably damaging	Het
Osbpl1a	T	G	18: 13,066,638 (GRCm39)	K40N	probably damaging	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Rp1	A	G	1: 4,419,168 (GRCm39)	V648A	probably benign	Het
Scn9a	T	C	2: 66,367,722 (GRCm39)	K654E	probably benign	Het
Sema3d	A	G	5: 12,591,047 (GRCm39)	I309V	probably benign	Het
Slc6a2	T	C	8: 93,722,310 (GRCm39)	L519P	probably damaging	Het
Stard9	A	G	2: 120,504,085 (GRCm39)	I211V	possibly damaging	Het
Stau2	T	C	1: 16,415,922 (GRCm39)	*480W	probably null	Het
Svopl	T	C	6: 38,003,876 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,528,753 (GRCm39)	E1330G	probably damaging	Het
Zan	G	A	5: 137,422,874 (GRCm39)	T2713I	unknown	Het

Other mutations in Abtb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Abtb3	APN	10	85,465,080 (GRCm39)	missense	possibly damaging	0.87
IGL01143:Abtb3	APN	10	85,490,335 (GRCm39)	splice site	probably benign
IGL01365:Abtb3	APN	10	85,469,680 (GRCm39)	missense	possibly damaging	0.75
IGL01409:Abtb3	APN	10	85,494,029 (GRCm39)	missense	possibly damaging	0.88
IGL01593:Abtb3	APN	10	85,490,339 (GRCm39)	splice site	probably benign
IGL01751:Abtb3	APN	10	85,490,366 (GRCm39)	missense	probably damaging	1.00
IGL01752:Abtb3	APN	10	85,490,366 (GRCm39)	missense	probably damaging	1.00
IGL02041:Abtb3	APN	10	85,223,418 (GRCm39)	missense	unknown
IGL02486:Abtb3	APN	10	85,476,419 (GRCm39)	missense	probably damaging	1.00
IGL02597:Abtb3	APN	10	85,469,665 (GRCm39)	missense	probably damaging	1.00
IGL02957:Abtb3	APN	10	85,467,150 (GRCm39)	splice site	probably benign
IGL02957:Abtb3	APN	10	85,469,701 (GRCm39)	missense	probably damaging	1.00
IGL02967:Abtb3	APN	10	85,469,646 (GRCm39)	missense	probably benign	0.11
IGL02975:Abtb3	APN	10	85,467,207 (GRCm39)	missense	probably benign	0.16
IGL03078:Abtb3	APN	10	85,468,027 (GRCm39)	missense	probably damaging	1.00
IGL03130:Abtb3	APN	10	85,224,347 (GRCm39)	splice site	probably null
IGL03335:Abtb3	APN	10	85,494,222 (GRCm39)	utr 3 prime	probably benign
R0024:Abtb3	UTSW	10	85,223,311 (GRCm39)	missense	unknown
R0599:Abtb3	UTSW	10	85,494,200 (GRCm39)	missense	probably damaging	1.00
R0655:Abtb3	UTSW	10	85,481,390 (GRCm39)	missense	probably damaging	1.00
R0660:Abtb3	UTSW	10	85,224,234 (GRCm39)	missense	possibly damaging	0.65
R0664:Abtb3	UTSW	10	85,224,234 (GRCm39)	missense	possibly damaging	0.65
R1155:Abtb3	UTSW	10	85,465,155 (GRCm39)	missense	probably damaging	1.00
R1244:Abtb3	UTSW	10	85,223,227 (GRCm39)	missense	unknown
R1389:Abtb3	UTSW	10	85,476,460 (GRCm39)	missense	possibly damaging	0.76
R1418:Abtb3	UTSW	10	85,481,442 (GRCm39)	missense	probably damaging	1.00
R1703:Abtb3	UTSW	10	85,223,248 (GRCm39)	missense	unknown
R1957:Abtb3	UTSW	10	85,469,563 (GRCm39)	missense	probably damaging	1.00
R2519:Abtb3	UTSW	10	85,487,475 (GRCm39)	missense	probably damaging	1.00
R3716:Abtb3	UTSW	10	85,397,392 (GRCm39)	missense	probably damaging	1.00
R3915:Abtb3	UTSW	10	85,468,134 (GRCm39)	missense	probably damaging	1.00
R4738:Abtb3	UTSW	10	85,463,112 (GRCm39)	nonsense	probably null
R4782:Abtb3	UTSW	10	85,490,414 (GRCm39)	missense	probably damaging	1.00
R4846:Abtb3	UTSW	10	85,465,130 (GRCm39)	missense	probably damaging	1.00
R4887:Abtb3	UTSW	10	85,223,242 (GRCm39)	missense	unknown
R4960:Abtb3	UTSW	10	85,487,526 (GRCm39)	missense	probably benign	0.34
R5224:Abtb3	UTSW	10	85,481,386 (GRCm39)	small deletion	probably benign
R5341:Abtb3	UTSW	10	85,223,236 (GRCm39)	missense	unknown
R5713:Abtb3	UTSW	10	85,487,516 (GRCm39)	missense	probably damaging	1.00
R6046:Abtb3	UTSW	10	85,223,947 (GRCm39)	missense	unknown
R6461:Abtb3	UTSW	10	85,476,428 (GRCm39)	missense	probably damaging	1.00
R6809:Abtb3	UTSW	10	85,467,240 (GRCm39)	missense	probably benign	0.01
R7069:Abtb3	UTSW	10	85,223,520 (GRCm39)	missense	unknown
R7130:Abtb3	UTSW	10	85,223,419 (GRCm39)	missense	unknown
R7202:Abtb3	UTSW	10	85,223,629 (GRCm39)	missense	unknown
R7275:Abtb3	UTSW	10	85,490,346 (GRCm39)	missense	probably damaging	1.00
R7489:Abtb3	UTSW	10	85,463,079 (GRCm39)	missense	probably damaging	1.00
R7743:Abtb3	UTSW	10	85,460,813 (GRCm39)	missense	possibly damaging	0.95
R7873:Abtb3	UTSW	10	85,466,989 (GRCm39)	missense	possibly damaging	0.74
R8155:Abtb3	UTSW	10	85,476,473 (GRCm39)	critical splice donor site	probably null
R8306:Abtb3	UTSW	10	85,434,409 (GRCm39)	nonsense	probably null
R8812:Abtb3	UTSW	10	85,463,113 (GRCm39)	missense	probably damaging	0.99
R8891:Abtb3	UTSW	10	85,223,958 (GRCm39)	missense	unknown
R9068:Abtb3	UTSW	10	85,223,762 (GRCm39)	missense	unknown
R9800:Abtb3	UTSW	10	85,224,079 (GRCm39)	missense	unknown
X0020:Abtb3	UTSW	10	85,467,216 (GRCm39)	missense	possibly damaging	0.86
Z1088:Abtb3	UTSW	10	85,223,721 (GRCm39)	missense	probably benign	0.23

Posted On

2013-12-03