Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01751:Abtb3'

278827

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: 0.129) question?

Stock #

IGL01751

Quality Score

Status

Chromosome

Chromosomal Location

85222678-85496156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85490366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1011 (Q1011K)

Ref Sequence

ENSEMBL: ENSMUSP00000100944 (fasta)

Gene Model

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

AlphaFold

Q6GQW0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105306
AA Change: Q542K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100943
Gene: ENSMUSG00000020042
AA Change: Q542K

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 damaging
Transcript: ENSMUST00000105307
AA Change: Q1011K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: Q1011K

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: ENSMUST00000128338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156123

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,979,981 (GRCm39)		probably null	Het
Aoc1l2	A	T	6: 48,907,522 (GRCm39)	H174L	possibly damaging	Het
Auts2	G	T	5: 131,501,198 (GRCm39)	Q72K	probably damaging	Het
Ccdc7b	A	T	8: 129,863,049 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,342,372 (GRCm39)	E1555G	probably benign	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Gm5828	A	G	1: 16,840,208 (GRCm39)		noncoding transcript	Het
Gm6605	T	C	7: 38,147,630 (GRCm39)		noncoding transcript	Het
Gvin3	T	A	7: 106,201,516 (GRCm39)	N576I	possibly damaging	Het
Hps3	T	C	3: 20,065,130 (GRCm39)	D638G	probably damaging	Het
Igdcc4	A	T	9: 65,039,014 (GRCm39)	N887I	probably damaging	Het
Itpkc	G	A	7: 26,912,491 (GRCm39)		probably benign	Het
Mfge8	A	G	7: 78,786,403 (GRCm39)		probably null	Het
Mrc2	G	T	11: 105,216,560 (GRCm39)	L116F	probably benign	Het
Necab1	T	C	4: 14,978,171 (GRCm39)	D226G	probably damaging	Het
Neurod2	T	C	11: 98,218,201 (GRCm39)	E321G	possibly damaging	Het
Obp2b	G	T	2: 25,627,760 (GRCm39)	V59L	possibly damaging	Het
Olr1	T	C	6: 129,465,811 (GRCm39)	N65S	possibly damaging	Het
Or14c39	A	T	7: 86,343,997 (GRCm39)	Q111L	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or5d43	A	T	2: 88,104,977 (GRCm39)	C139S	possibly damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Rock1	A	G	18: 10,079,113 (GRCm39)		probably null	Het
Scn3a	T	A	2: 65,291,596 (GRCm39)	M1717L	possibly damaging	Het
Smg7	T	C	1: 152,719,812 (GRCm39)	D903G	possibly damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Ttll9	A	T	2: 152,825,025 (GRCm39)	N68I	probably damaging	Het
Ttn	A	G	2: 76,567,943 (GRCm39)	V25904A	possibly damaging	Het
Uaca	G	A	9: 60,777,139 (GRCm39)	V507M	probably damaging	Het
Vmn1r195	G	T	13: 22,463,421 (GRCm39)	C297F	probably benign	Het
Zdhhc2	G	A	8: 40,926,042 (GRCm39)	A346T	probably benign	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
IGL01531:Abtb3	APN	10	85,465,069 (GRCm39)	splice site	probably benign
IGL01593:Abtb3	APN	10	85,490,339 (GRCm39)	splice site	probably benign
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

2015-04-16