Mutagenetix > Incidental Mutation

Incidental Mutation 'R0664:Abtb3'

61949

Institutional Source

Beutler Lab

Gene Symbol

Abtb3

Ensembl Gene

ENSMUSG00000020042

Gene Name

ankyrin repeat and BTB domain containing 3

Synonyms

Btbd11, 6330404E16Rik

MMRRC Submission

038849-MU

Accession Numbers

Essential gene?

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

Stock #

R0664 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

85222678-85496156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85224234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 348 (A348T)

Ref Sequence

ENSEMBL: ENSMUSP00000020231 (fasta)

Gene Model

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

AlphaFold

Q6GQW0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020231
AA Change: A348T

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042
AA Change: A348T

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: ENSMUST00000105307
AA Change: A348T

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: A348T

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

Meta Mutation Damage Score

0.1324

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
A530064D06Rik	T	C	17: 48,473,759 (GRCm39)	I53V	probably benign	Het
Agmo	A	T	12: 37,302,571 (GRCm39)	H136L	probably damaging	Het
B020004C17Rik	G	A	14: 57,254,225 (GRCm39)	R116H	possibly damaging	Het
Cacna1b	A	G	2: 24,544,458 (GRCm39)	S1243P	probably damaging	Het
Champ1	G	A	8: 13,929,485 (GRCm39)	V548M	probably damaging	Het
Dnah7b	A	T	1: 46,364,002 (GRCm39)	M3541L	probably damaging	Het
Emc9	A	G	14: 55,819,365 (GRCm39)	L138P	possibly damaging	Het
Epcam	T	A	17: 87,947,398 (GRCm39)	Y51N	possibly damaging	Het
Gpr55	A	T	1: 85,868,739 (GRCm39)	S281T	probably benign	Het
Grid2ip	T	A	5: 143,349,732 (GRCm39)		probably null	Het
Hgfac	G	T	5: 35,205,522 (GRCm39)	V601F	probably benign	Het
Hlcs	A	G	16: 94,032,170 (GRCm39)	W545R	probably damaging	Het
Hsd17b2	T	C	8: 118,485,440 (GRCm39)	V301A	possibly damaging	Het
Ipo8	A	T	6: 148,701,711 (GRCm39)	L466I	probably benign	Het
Jcad	A	G	18: 4,676,063 (GRCm39)	D1275G	probably damaging	Het
Mdn1	G	T	4: 32,768,011 (GRCm39)	E5315*	probably null	Het
Nfam1	T	C	15: 82,899,139 (GRCm39)	T176A	probably damaging	Het
Nsd3	T	C	8: 26,204,267 (GRCm39)	F432S	probably damaging	Het
Or4c31	C	T	2: 88,292,515 (GRCm39)	P296L	probably damaging	Het
Prmt5	G	T	14: 54,745,313 (GRCm39)	T618K	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Serpinb7	A	G	1: 107,356,037 (GRCm39)	D20G	probably damaging	Het
Slco1a4	T	C	6: 141,758,467 (GRCm39)	I515V	probably benign	Het
Stk26	T	A	X: 49,976,803 (GRCm39)	Y283*	probably null	Het
Tanc1	A	T	2: 59,674,228 (GRCm39)	K1778*	probably null	Het
Thada	A	G	17: 84,644,257 (GRCm39)	L1288P	probably damaging	Het
Ttbk2	C	A	2: 120,579,302 (GRCm39)	V607F	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ATCTACCTGACCGCCTGTATGGAG -3'
(R):5'- ACGAGAGGCAAACTTGAACCCG -3'

Sequencing Primer
(F):5'- ggctccagctccggttc -3'
(R):5'- GGAGTTGACAGAGCCACTTACC -3'

Posted On

2013-07-30