Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00848:Kbtbd3'

11544

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 #

IGL00848

Quality Score

Status

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4331184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 519 (S519R)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

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

AlphaFold

Q8BHI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049648
AA Change: S519R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: S519R

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 damaging
Transcript: ENSMUST00000212221
AA Change: S519R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,370,237 (GRCm39)	F508L	probably damaging	Het
Adgra3	C	T	5: 50,159,291 (GRCm39)	G320R	probably damaging	Het
Arhgef40	G	A	14: 52,224,884 (GRCm39)	V10M	probably damaging	Het
Birc6	C	T	17: 75,003,388 (GRCm39)	Q4739*	probably null	Het
Cdcp3	A	G	7: 130,848,453 (GRCm39)	E869G	probably damaging	Het
Cdh20	C	T	1: 104,861,981 (GRCm39)	H54Y	probably benign	Het
Cep112	A	G	11: 108,362,886 (GRCm39)	D202G	probably damaging	Het
Cfhr2	T	A	1: 139,758,970 (GRCm39)	T27S	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Copa	T	A	1: 171,938,255 (GRCm39)	C523S	possibly damaging	Het
Copz1	T	A	15: 103,207,176 (GRCm39)		probably benign	Het
Crybg1	A	C	10: 43,843,814 (GRCm39)		probably null	Het
Cyp3a11	A	T	5: 145,799,275 (GRCm39)	I304N	probably damaging	Het
Eif2d	C	T	1: 131,092,173 (GRCm39)	Q315*	probably null	Het
Fgfr4	A	G	13: 55,306,983 (GRCm39)	E224G	probably damaging	Het
Fndc3b	A	T	3: 27,505,658 (GRCm39)	L870Q	probably damaging	Het
Glt8d2	C	T	10: 82,497,999 (GRCm39)		probably null	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Hrnr	A	T	3: 93,230,204 (GRCm39)	K147N	unknown	Het
Kcnv1	A	G	15: 44,976,624 (GRCm39)	I221T	probably benign	Het
Khdrbs2	C	T	1: 32,511,833 (GRCm39)	A266V	probably benign	Het
Lmtk2	A	G	5: 144,113,216 (GRCm39)	E1312G	probably benign	Het
Mos	T	C	4: 3,871,459 (GRCm39)	N119S	probably damaging	Het
Mtpap	C	T	18: 4,380,717 (GRCm39)	H132Y	probably benign	Het
Myo18b	G	A	5: 113,019,351 (GRCm39)	T642I	probably damaging	Het
Myo5c	A	G	9: 75,196,463 (GRCm39)	E1303G	probably benign	Het
Napepld	A	T	5: 21,888,191 (GRCm39)	M86K	probably benign	Het
Nvl	T	A	1: 180,932,690 (GRCm39)	D709V	probably damaging	Het
Pak1ip1	A	T	13: 41,166,099 (GRCm39)	E341D	probably benign	Het
Pgghg	G	A	7: 140,522,317 (GRCm39)	G32D	probably damaging	Het
Phlpp1	G	A	1: 106,303,985 (GRCm39)	R1096H	probably damaging	Het
Phlpp1	C	T	1: 106,267,178 (GRCm39)	T697M	probably damaging	Het
Piwil4	T	G	9: 14,638,707 (GRCm39)	T273P	probably damaging	Het
Pkd2l1	A	T	19: 44,180,718 (GRCm39)		probably benign	Het
Polr3b	A	G	10: 84,516,241 (GRCm39)	D623G	probably damaging	Het
Pop1	A	G	15: 34,508,875 (GRCm39)	T317A	probably benign	Het
Prune2	A	T	19: 17,096,482 (GRCm39)	K662I	probably damaging	Het
Ptger4	T	C	15: 5,264,589 (GRCm39)	I356V	probably benign	Het
Rhbdd1	T	C	1: 82,318,165 (GRCm39)	L16P	possibly damaging	Het
Rps11	C	T	7: 44,772,925 (GRCm39)	R22Q	probably benign	Het
Sfxn2	A	T	19: 46,578,596 (GRCm39)	I204F	probably damaging	Het
Slc26a9	C	T	1: 131,685,266 (GRCm39)	S365F	probably damaging	Het
Slc47a2	C	T	11: 61,193,059 (GRCm39)	V565M	probably benign	Het
Spns1	T	C	7: 125,970,414 (GRCm39)		probably null	Het
Stk3	T	A	15: 35,114,768 (GRCm39)	E48V	possibly damaging	Het
Svs3b	T	C	2: 164,098,021 (GRCm39)	E100G	probably damaging	Het
Tjp1	T	C	7: 64,952,942 (GRCm39)	Q1464R	probably benign	Het
Tspan10	T	C	11: 120,335,096 (GRCm39)	S69P	probably benign	Het
Usp32	T	C	11: 84,942,007 (GRCm39)		probably benign	Het
Vps45	G	T	3: 95,964,285 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,343,208 (GRCm39)	N1790K	probably damaging	Het
Zfp704	A	T	3: 9,630,299 (GRCm39)	S21T	possibly damaging	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
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
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

2012-12-06