Mutagenetix > Incidental Mutation

Incidental Mutation 'R1244:Abtb3'

152096

Institutional Source

Beutler Lab

Gene Symbol

Abtb3

Ensembl Gene

ENSMUSG00000020042

Gene Name

ankyrin repeat and BTB domain containing 3

Synonyms

Btbd11, 6330404E16Rik

MMRRC Submission

039311-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R1244 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85222678-85496156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85223227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 12 (T12K)

Ref Sequence

ENSEMBL: ENSMUSP00000100944 (fasta)

Gene Model

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

AlphaFold

Q6GQW0

Predicted Effect

unknown
Transcript: ENSMUST00000020231
AA Change: T12K

SMART Domains

Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042
AA Change: T12K

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

unknown
Transcript: ENSMUST00000105307
AA Change: T12K

SMART Domains

Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: T12K

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,262,918 (GRCm39)	T1417I	probably benign	Het
Abca14	G	A	7: 119,815,561 (GRCm39)	A270T	probably benign	Het
Ash2l	T	C	8: 26,307,449 (GRCm39)	S529G	probably damaging	Het
Atp13a3	T	C	16: 30,180,654 (GRCm39)	Y125C	probably benign	Het
Calca	A	G	7: 114,232,962 (GRCm39)	Y96H	probably damaging	Het
Cct4	A	G	11: 22,946,417 (GRCm39)	E131G	probably benign	Het
Cd84	A	G	1: 171,679,397 (GRCm39)	D25G	probably damaging	Het
Chd9	A	G	8: 91,749,557 (GRCm39)	D1728G	probably damaging	Het
Cyp39a1	A	T	17: 44,060,836 (GRCm39)	K461N	probably benign	Het
Ddx50	T	A	10: 62,478,703 (GRCm39)	Q161L	probably damaging	Het
Golga5	A	G	12: 102,438,554 (GRCm39)	T90A	probably benign	Het
Heatr3	A	G	8: 88,868,367 (GRCm39)	E39G	possibly damaging	Het
Hipk3	G	A	2: 104,263,601 (GRCm39)	R905W	probably damaging	Het
Hsd11b1	T	G	1: 192,906,068 (GRCm39)	M175L	probably benign	Het
Htra1	G	A	7: 130,586,799 (GRCm39)	V461I	possibly damaging	Het
Il10	A	G	1: 130,951,953 (GRCm39)	D162G	probably damaging	Het
Mapre2	A	G	18: 23,986,774 (GRCm39)	K62R	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ogfod1	A	G	8: 94,763,999 (GRCm39)	D28G	probably benign	Het
Or5an10	A	T	19: 12,275,860 (GRCm39)	I212N	probably damaging	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Ppp4c	A	G	7: 126,385,452 (GRCm39)	V119A	probably damaging	Het
Scn2a	T	C	2: 65,593,999 (GRCm39)	I1616T	probably damaging	Het
Sipa1l1	A	G	12: 82,472,190 (GRCm39)	N1390S	probably benign	Het
Sub1	A	T	15: 11,991,130 (GRCm39)	V37E	possibly damaging	Het
Tbc1d17	A	T	7: 44,493,822 (GRCm39)	V267E	probably damaging	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vmn1r77	A	T	7: 11,775,847 (GRCm39)	T140S	possibly damaging	Het
Vmn2r15	A	T	5: 109,441,092 (GRCm39)	Y255*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGAAGATGACTTCAGGTTCCGC -3'
(R):5'- GCAGTGTTGACGGTGTCAAAGC -3'

Sequencing Primer
(F):5'- CGAAAGTAGTGACACTTGCTGG -3'
(R):5'- GTCAAAGCTGTTGTGCCG -3'

Posted On

2014-01-29