Mutagenetix > Incidental Mutation

Incidental Mutation 'R5753:Kbtbd3'

444902

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

043358-MU

Accession Numbers

Essential gene?

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

Stock #

R5753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4331404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 593 (I593F)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

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

AlphaFold

Q8BHI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049648
AA Change: I593F

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: I593F

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

possibly damaging
Transcript: ENSMUST00000212221
AA Change: I593F

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1055

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	C	T	5: 88,120,374 (GRCm39)	T377I	probably damaging	Het
Abcb1a	A	G	5: 8,773,160 (GRCm39)	D796G	probably damaging	Het
Actn3	T	C	19: 4,914,595 (GRCm39)		probably null	Het
Ada	A	T	2: 163,577,318 (GRCm39)	S57T	probably benign	Het
Adamts6	A	G	13: 104,483,858 (GRCm39)	Y359C	probably damaging	Het
Adcy1	A	T	11: 7,080,300 (GRCm39)	I348F	probably damaging	Het
Ankrd11	T	C	8: 123,622,043 (GRCm39)	E603G	possibly damaging	Het
Bcas3	A	G	11: 85,712,910 (GRCm39)		probably benign	Het
Cldn1	C	A	16: 26,181,871 (GRCm39)	V113L	probably benign	Het
Dock9	T	C	14: 121,872,037 (GRCm39)	T540A	probably benign	Het
Erp27	A	G	6: 136,896,875 (GRCm39)	F109S	probably damaging	Het
F13a1	G	A	13: 37,082,082 (GRCm39)	Q541*	probably null	Het
Fam124a	T	C	14: 62,843,988 (GRCm39)	S499P	probably benign	Het
Fgd3	T	A	13: 49,428,416 (GRCm39)	E486V	possibly damaging	Het
Flnc	T	C	6: 29,433,488 (GRCm39)	S11P	probably benign	Het
Gm12508	C	A	4: 55,254,787 (GRCm39)		noncoding transcript	Het
Grk2	C	T	19: 4,340,496 (GRCm39)	R295H	probably damaging	Het
Gtf2ird1	A	G	5: 134,439,837 (GRCm39)	M131T	probably damaging	Het
H4c4	G	A	13: 23,765,587 (GRCm39)	M1I	probably null	Het
Itpripl2	A	G	7: 118,090,232 (GRCm39)	V109A	probably damaging	Het
Jakmip2	T	C	18: 43,692,181 (GRCm39)	E585G	probably damaging	Het
Lgr4	C	T	2: 109,832,857 (GRCm39)	Q316*	probably null	Het
Mcf2l	T	C	8: 13,049,993 (GRCm39)	F305S	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4c3	T	C	2: 89,851,847 (GRCm39)	T188A	possibly damaging	Het
Or4k51	T	A	2: 111,585,146 (GRCm39)	I184K	possibly damaging	Het
Or4q3	T	A	14: 50,583,045 (GRCm39)	T285S	probably damaging	Het
Or51b17	A	G	7: 103,542,408 (GRCm39)	L178P	probably damaging	Het
Or5d18	G	A	2: 87,864,920 (GRCm39)	L188F	probably damaging	Het
Or5w18	A	T	2: 87,633,596 (GRCm39)	M288L	probably benign	Het
Or7a40	A	T	16: 16,491,484 (GRCm39)	Y120*	probably null	Het
Pcdh9	T	A	14: 94,125,597 (GRCm39)	D191V	probably damaging	Het
Pde4d	T	A	13: 109,909,256 (GRCm39)		probably benign	Het
Phkb	C	T	8: 86,604,859 (GRCm39)	A88V	probably damaging	Het
Plec	A	G	15: 76,057,620 (GRCm39)	S4128P	probably damaging	Het
Plekha5	A	T	6: 140,482,730 (GRCm39)		probably null	Het
Rgs13	A	C	1: 144,016,478 (GRCm39)	N88K	probably benign	Het
Rho	T	A	6: 115,912,448 (GRCm39)	I104N	probably damaging	Het
Rnps1	T	C	17: 24,637,138 (GRCm39)		probably benign	Het
Saxo5	A	T	8: 3,534,112 (GRCm39)	I350L	probably benign	Het
Slc10a7	G	T	8: 79,251,928 (GRCm39)		probably null	Het
Slc39a7	C	T	17: 34,249,150 (GRCm39)	R246K	probably damaging	Het
Sort1	G	C	3: 108,253,090 (GRCm39)	G510A	probably damaging	Het
Spag6l	A	G	16: 16,584,831 (GRCm39)		probably null	Het
Sync	T	A	4: 129,187,179 (GRCm39)	Y70*	probably null	Het
Timm8a2	T	C	14: 122,272,289 (GRCm39)	V64A	probably benign	Het
Tnfrsf11b	C	A	15: 54,117,455 (GRCm39)	V267L	possibly damaging	Het
Trim30b	A	G	7: 104,006,544 (GRCm39)	V104A	possibly damaging	Het
Tusc3	T	C	8: 39,564,100 (GRCm39)	S244P	probably damaging	Het
Usp16	T	A	16: 87,279,787 (GRCm39)	Y746N	probably damaging	Het
Vax1	G	T	19: 59,154,814 (GRCm39)	H274Q	probably benign	Het
Vmn2r108	A	G	17: 20,683,179 (GRCm39)	V675A	probably damaging	Het
Vmn2r12	A	T	5: 109,239,670 (GRCm39)	W298R	probably damaging	Het
Zfp948	A	G	17: 21,807,156 (GRCm39)	N116S	probably damaging	Het
Zkscan2	A	G	7: 123,079,923 (GRCm39)	V678A	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
R0380:Kbtbd3	UTSW	9	4,330,545 (GRCm39)	nonsense	probably null
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
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'- GCAGGTTTTAATGCAGGTGC -3'
(R):5'- CCAGAGTGTTCAATGTGAATTTCTC -3'

Sequencing Primer
(F):5'- GCAGGTGCAATTGGAATTGAG -3'
(R):5'- TCTTCATGTCACACAATATGCAG -3'

Posted On

2016-11-21