Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02894:Kbtbd3'

363350

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kbtbd3

Ensembl Gene

ENSMUSG00000025893

Gene Name

kelch repeat and BTB (POZ) domain containing 3

Synonyms

Bklhd3, 2200003A07Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02894

Quality Score

Status

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4331444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 606 (H606L)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

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

AlphaFold

Q8BHI4

Predicted Effect

probably benign
Transcript: ENSMUST00000049648
AA Change: H606L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: H606L

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 benign
Transcript: ENSMUST00000212221
AA Change: H606L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	T	A	14: 33,776,817 (GRCm39)		probably benign	Het
Aurka	T	A	2: 172,208,868 (GRCm39)		probably null	Het
Cacna2d3	C	T	14: 28,786,276 (GRCm39)		probably null	Het
Cdh12	A	G	15: 21,586,380 (GRCm39)	Y733C	probably damaging	Het
Cdon	A	T	9: 35,366,722 (GRCm39)	E199D	probably benign	Het
Celsr2	A	T	3: 108,302,526 (GRCm39)	L558Q	probably damaging	Het
Clcnkb	C	A	4: 141,135,130 (GRCm39)	R536L	probably benign	Het
Cyp3a11	G	A	5: 145,805,836 (GRCm39)	Q151*	probably null	Het
Dnah7a	A	T	1: 53,616,487 (GRCm39)	V1158E	probably benign	Het
Dnah8	G	T	17: 30,940,084 (GRCm39)	E1677*	probably null	Het
Dock3	T	C	9: 106,807,298 (GRCm39)	N1343S	probably benign	Het
Dock6	T	A	9: 21,723,111 (GRCm39)	E1603D	probably damaging	Het
Fam91a1	C	T	15: 58,315,080 (GRCm39)	T589M	probably benign	Het
Fat2	T	A	11: 55,147,479 (GRCm39)	N3921I	probably damaging	Het
Gm10188	A	G	1: 132,157,037 (GRCm39)		probably benign	Het
Grid2ip	A	G	5: 143,376,863 (GRCm39)	E976G	probably benign	Het
Hapln3	G	T	7: 78,771,521 (GRCm39)	Q123K	probably benign	Het
Hnrnpul1	G	A	7: 25,450,329 (GRCm39)	P128S	possibly damaging	Het
Hsd3b1	T	A	3: 98,760,245 (GRCm39)	I249F	possibly damaging	Het
Krt82	T	C	15: 101,451,155 (GRCm39)	Y418C	probably damaging	Het
Mcm3ap	C	A	10: 76,313,601 (GRCm39)	A565E	probably benign	Het
Minar1	T	G	9: 89,485,155 (GRCm39)	I81L	probably damaging	Het
Naip2	A	G	13: 100,297,505 (GRCm39)	S844P	probably damaging	Het
Naip2	C	T	13: 100,320,297 (GRCm39)	V240I	probably benign	Het
Notch2	T	A	3: 98,009,748 (GRCm39)	C558*	probably null	Het
Npdc1	T	A	2: 25,298,007 (GRCm39)	H185Q	probably benign	Het
Or2a25	A	T	6: 42,888,451 (GRCm39)		probably benign	Het
Or4c31	T	G	2: 88,292,070 (GRCm39)	Y148D	probably damaging	Het
Or5d37	T	C	2: 87,924,107 (GRCm39)	I58V	possibly damaging	Het
Osbpl3	A	T	6: 50,323,312 (GRCm39)	I257N	possibly damaging	Het
Pkd1l2	T	A	8: 117,740,630 (GRCm39)	T2156S	probably damaging	Het
Ppp1r13b	A	G	12: 111,797,888 (GRCm39)		probably benign	Het
Ppp3ca	C	A	3: 136,503,573 (GRCm39)	H49N	probably damaging	Het
Prrc2c	A	T	1: 162,505,626 (GRCm39)	L1100I	probably damaging	Het
Ptpn21	A	C	12: 98,655,891 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Ptprq	T	A	10: 107,503,285 (GRCm39)	Q791L	probably benign	Het
Ptprz1	G	A	6: 23,035,148 (GRCm39)	R1966H	probably damaging	Het
Ralgapa1	T	A	12: 55,763,854 (GRCm39)	Q1404L	possibly damaging	Het
Reln	C	A	5: 22,090,546 (GRCm39)	M3437I	possibly damaging	Het
S100a7l2	A	T	3: 90,995,700 (GRCm39)	F67L	probably benign	Het
Slc13a1	T	C	6: 24,137,041 (GRCm39)		probably benign	Het
Slc4a11	T	C	2: 130,529,075 (GRCm39)		probably null	Het
Slc9a2	A	G	1: 40,802,762 (GRCm39)	E604G	probably benign	Het
Sod3	T	G	5: 52,525,348 (GRCm39)	S16A	possibly damaging	Het
Taok3	A	G	5: 117,401,678 (GRCm39)	I650V	probably benign	Het
Uggt2	T	C	14: 119,319,211 (GRCm39)	I270M	probably damaging	Het
Ugt3a1	T	A	15: 9,367,487 (GRCm39)	I410N	probably damaging	Het
Ush2a	G	A	1: 188,184,043 (GRCm39)	S1449N	probably damaging	Het
Usp29	A	T	7: 6,964,633 (GRCm39)	M159L	probably benign	Het
Vmn1r122	A	T	7: 20,867,649 (GRCm39)	F135L	probably benign	Het
Wdr11	T	C	7: 129,232,890 (GRCm39)		probably benign	Het
Zc3h14	T	A	12: 98,725,202 (GRCm39)		probably null	Het
Zfp955a	A	T	17: 33,461,426 (GRCm39)	C235*	probably null	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
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
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

Posted On

2015-12-18