Mutagenetix > Incidental Mutation

Incidental Mutation 'R0380:Kbtbd3'

30935

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd3

Ensembl Gene

ENSMUSG00000025893

Gene Name

kelch repeat and BTB (POZ) domain containing 3

Synonyms

Bklhd3, 2200003A07Rik

MMRRC Submission

038586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R0380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4330545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 306 (Y306*)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049648] [ENSMUST00000212221]

AlphaFold

Q8BHI4

Predicted Effect

probably null
Transcript: ENSMUST00000049648
AA Change: Y306*

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: Y306*

Domain	Start	End	E-Value	Type
BTB	48	145	1.83e-23	SMART
BACK	150	252	1.19e-26	SMART
Blast:Kelch	292	338	7e-15	BLAST
Kelch	339	399	2.56e0	SMART
Kelch	400	450	8.67e-4	SMART
Kelch	548	597	3.3e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000212221
AA Change: Y306*

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,538,500 (GRCm39)		probably null	Het
Abca14	A	T	7: 119,877,703 (GRCm39)	I1073L	probably benign	Het
Adamts17	C	T	7: 66,799,792 (GRCm39)	P1116L	probably benign	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Ano4	A	G	10: 88,814,675 (GRCm39)	I671T	possibly damaging	Het
Aoc1l1	A	G	6: 48,952,773 (GRCm39)	I233V	probably benign	Het
Ap1g1	A	G	8: 110,529,796 (GRCm39)		probably benign	Het
Arhgap19	A	G	19: 41,761,576 (GRCm39)		probably benign	Het
Arhgap32	C	T	9: 32,157,773 (GRCm39)	R129W	probably damaging	Het
Atp10b	G	T	11: 43,116,424 (GRCm39)	A924S	probably damaging	Het
Ccdc180	T	A	4: 45,930,197 (GRCm39)		probably null	Het
Cckbr	A	G	7: 105,084,198 (GRCm39)	T311A	probably benign	Het
Cr2	C	T	1: 194,839,715 (GRCm39)	G947R	probably damaging	Het
Cyp2g1	T	A	7: 26,513,720 (GRCm39)		probably benign	Het
Dennd1c	G	A	17: 57,380,822 (GRCm39)	A210V	probably damaging	Het
Dscam	A	G	16: 96,857,810 (GRCm39)	Y67H	probably damaging	Het
Dsg2	T	A	18: 20,715,996 (GRCm39)	Y282*	probably null	Het
Epg5	T	C	18: 78,004,056 (GRCm39)	L688P	probably damaging	Het
Esr2	T	G	12: 76,170,065 (GRCm39)	E458A	possibly damaging	Het
Fat1	T	C	8: 45,463,160 (GRCm39)	S1326P	probably damaging	Het
Flt1	A	G	5: 147,525,382 (GRCm39)	S919P	probably damaging	Het
Gpr12	T	A	5: 146,520,146 (GRCm39)	T259S	probably damaging	Het
Grm5	T	A	7: 87,723,584 (GRCm39)	C625S	possibly damaging	Het
H2-Q1	C	T	17: 35,542,054 (GRCm39)	H209Y	probably damaging	Het
Hcfc2	C	A	10: 82,564,272 (GRCm39)		probably benign	Het
Itgal	C	A	7: 126,909,923 (GRCm39)	Y495*	probably null	Het
Kcns2	T	C	15: 34,839,318 (GRCm39)	F227S	possibly damaging	Het
Kif1a	T	A	1: 92,983,753 (GRCm39)		probably null	Het
Maml2	C	T	9: 13,532,396 (GRCm39)	R537*	probably null	Het
Muc4	G	A	16: 32,574,333 (GRCm39)	A928T	probably benign	Het
Nav3	A	G	10: 109,594,740 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,122,214 (GRCm39)	M605K	probably damaging	Het
Or2c1	A	T	16: 3,656,849 (GRCm39)	D4V	probably benign	Het
Pcdhb3	T	G	18: 37,435,210 (GRCm39)	I392S	possibly damaging	Het
Prune2	A	G	19: 17,101,371 (GRCm39)	T2292A	probably damaging	Het
Rbbp8nl	A	T	2: 179,923,512 (GRCm39)	M108K	probably damaging	Het
Rbm25	A	G	12: 83,707,130 (GRCm39)	T259A	probably benign	Het
Recql	C	A	6: 142,315,156 (GRCm39)	R243L	probably damaging	Het
Rsf1	TGGCG	TGGCGACGGCGGCG	7: 97,229,112 (GRCm39)		probably benign	Het
Serpinb12	T	C	1: 106,878,551 (GRCm39)		probably null	Het
Slc16a14	T	A	1: 84,907,251 (GRCm39)	I8F	possibly damaging	Het
Spef1	G	T	2: 131,014,332 (GRCm39)		probably benign	Het
Tas2r103	A	G	6: 133,013,166 (GRCm39)	L300P	probably damaging	Het
Tas2r117	A	T	6: 132,780,551 (GRCm39)	R230*	probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Thnsl2	A	T	6: 71,118,314 (GRCm39)	L38Q	probably damaging	Het
Tmem171	G	T	13: 98,828,535 (GRCm39)	T205K	possibly damaging	Het
Tmem232	A	T	17: 65,563,443 (GRCm39)	L650Q	probably benign	Het
Tpr	T	A	1: 150,288,698 (GRCm39)	D518E	probably benign	Het
Tsen54	T	C	11: 115,713,423 (GRCm39)	V442A	probably damaging	Het
Tshz3	A	T	7: 36,470,725 (GRCm39)	I905F	probably damaging	Het
Vmn1r66	C	T	7: 10,008,670 (GRCm39)	C121Y	probably benign	Het
Wdfy3	T	C	5: 102,096,832 (GRCm39)	Q322R	probably damaging	Het
Wdr64	T	C	1: 175,597,208 (GRCm39)		probably benign	Het

Other mutations in Kbtbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Kbtbd3	APN	9	4,330,169 (GRCm39)	missense	probably benign
IGL00674:Kbtbd3	APN	9	4,329,949 (GRCm39)	missense	probably benign	0.05
IGL00848:Kbtbd3	APN	9	4,331,184 (GRCm39)	missense	probably damaging	1.00
IGL01949:Kbtbd3	APN	9	4,331,066 (GRCm39)	missense	possibly damaging	0.95
IGL02619:Kbtbd3	APN	9	4,331,252 (GRCm39)	missense	probably damaging	1.00
IGL02830:Kbtbd3	APN	9	4,330,096 (GRCm39)	missense	possibly damaging	0.95
IGL02894:Kbtbd3	APN	9	4,331,444 (GRCm39)	missense	probably benign	0.05
R0239:Kbtbd3	UTSW	9	4,330,144 (GRCm39)	missense	possibly damaging	0.62
R0239:Kbtbd3	UTSW	9	4,330,144 (GRCm39)	missense	possibly damaging	0.62
R0348:Kbtbd3	UTSW	9	4,330,519 (GRCm39)	missense	possibly damaging	0.94
R0372:Kbtbd3	UTSW	9	4,316,950 (GRCm39)	missense	possibly damaging	0.75
R0644:Kbtbd3	UTSW	9	4,329,868 (GRCm39)	missense	probably damaging	1.00
R1496:Kbtbd3	UTSW	9	4,330,276 (GRCm39)	missense	probably benign
R1651:Kbtbd3	UTSW	9	4,330,589 (GRCm39)	missense	possibly damaging	0.62
R1707:Kbtbd3	UTSW	9	4,316,985 (GRCm39)	missense	probably benign	0.01
R1998:Kbtbd3	UTSW	9	4,330,760 (GRCm39)	missense	probably benign	0.01
R2012:Kbtbd3	UTSW	9	4,330,919 (GRCm39)	missense	probably benign
R2027:Kbtbd3	UTSW	9	4,317,075 (GRCm39)	splice site	probably benign
R3717:Kbtbd3	UTSW	9	4,330,598 (GRCm39)	missense	probably benign
R4463:Kbtbd3	UTSW	9	4,331,257 (GRCm39)	missense	probably damaging	0.99
R4482:Kbtbd3	UTSW	9	4,331,051 (GRCm39)	missense	probably damaging	1.00
R4795:Kbtbd3	UTSW	9	4,331,073 (GRCm39)	nonsense	probably null
R5195:Kbtbd3	UTSW	9	4,316,905 (GRCm39)	missense	possibly damaging	0.74
R5645:Kbtbd3	UTSW	9	4,331,426 (GRCm39)	missense	possibly damaging	0.92
R5753:Kbtbd3	UTSW	9	4,331,404 (GRCm39)	missense	possibly damaging	0.74
R5898:Kbtbd3	UTSW	9	4,330,476 (GRCm39)	missense	probably damaging	0.97
R6463:Kbtbd3	UTSW	9	4,316,921 (GRCm39)	missense	probably benign
R6681:Kbtbd3	UTSW	9	4,330,687 (GRCm39)	missense	probably benign	0.00
R7284:Kbtbd3	UTSW	9	4,330,690 (GRCm39)	nonsense	probably null
R7390:Kbtbd3	UTSW	9	4,330,424 (GRCm39)	missense	probably benign	0.27
R7735:Kbtbd3	UTSW	9	4,330,846 (GRCm39)	missense	possibly damaging	0.89
R7793:Kbtbd3	UTSW	9	4,331,221 (GRCm39)	missense	probably damaging	1.00
R7950:Kbtbd3	UTSW	9	4,316,878 (GRCm39)	nonsense	probably null
R8005:Kbtbd3	UTSW	9	4,330,655 (GRCm39)	missense	probably damaging	1.00
R8050:Kbtbd3	UTSW	9	4,330,408 (GRCm39)	missense	probably benign	0.43
R8213:Kbtbd3	UTSW	9	4,331,269 (GRCm39)	missense	probably damaging	0.99
R9163:Kbtbd3	UTSW	9	4,330,584 (GRCm39)	missense	probably benign	0.30
X0024:Kbtbd3	UTSW	9	4,331,437 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTCCTGTCCAAAGCTTGCAGTG -3'
(R):5'- CTTGGGGTTTTCATGGCTGAAACAC -3'

Sequencing Primer
(F):5'- AATGGTCCTAAAGGCTGTCC -3'
(R):5'- TGGACAGTAGCACCAGGTC -3'

Posted On

2013-04-24