Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Kbtbd2'

42461

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd2

Ensembl Gene

ENSMUSG00000059486

Gene Name

kelch repeat and BTB (POZ) domain containing 2

Synonyms

Bklhd1

MMRRC Submission

038689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0491 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

56754510-56774798 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 56757374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 121 (R121*)

Ref Sequence

ENSEMBL: ENSMUSP00000109962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114321] [ENSMUST00000114323]

AlphaFold

G3X9X1

Predicted Effect

probably null
Transcript: ENSMUST00000114321
AA Change: R121*

SMART Domains

Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: R121*

Domain	Start	End	E-Value	Type
BTB	31	128	1.5e-28	SMART
BACK	133	235	7.34e-27	SMART
Kelch	317	380	7.31e0	SMART
Kelch	381	429	4.33e-4	SMART
Kelch	430	469	2.7e0	SMART
Kelch	470	532	7.7e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114323
AA Change: R121*

SMART Domains

Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: R121*

Domain	Start	End	E-Value	Type
BTB	31	128	1.5e-28	SMART
BACK	133	235	7.34e-27	SMART
Kelch	317	380	7.31e0	SMART
Kelch	381	429	4.33e-4	SMART
Kelch	430	469	2.7e0	SMART
Kelch	470	532	7.7e0	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele or mutation exhibit diabetes, lipodystrophy, and hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,248,235 (GRCm39)	F2661L	probably benign	Het
Acadsb	A	G	7: 131,031,836 (GRCm39)	D224G	probably benign	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,667,457 (GRCm39)	D465G	probably damaging	Het
Akap9	A	T	5: 4,022,851 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,679,582 (GRCm39)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,555,075 (GRCm39)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,250,212 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,614,913 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,016,746 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,287,515 (GRCm39)	F740L	probably benign	Het
Clec12a	T	A	6: 129,341,016 (GRCm39)	D265E	probably benign	Het
Clic3	T	A	2: 25,347,797 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,909,859 (GRCm39)	T749P	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Cplane1	T	A	15: 8,211,727 (GRCm39)	S356T	probably damaging	Het
Crxos	T	A	7: 15,632,460 (GRCm39)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,231,468 (GRCm39)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,410,486 (GRCm39)	N262K	possibly damaging	Het
Dennd2b	T	A	7: 109,156,411 (GRCm39)	Q113L	probably benign	Het
Dpy19l2	T	C	9: 24,607,324 (GRCm39)	R46G	probably benign	Het
Dpysl2	A	T	14: 67,045,411 (GRCm39)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Eppin	T	A	2: 164,431,332 (GRCm39)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,152,835 (GRCm39)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,412,705 (GRCm39)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,409,525 (GRCm39)	H586R	unknown	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Haus6	A	C	4: 86,521,083 (GRCm39)	V185G	possibly damaging	Het
Herc2	T	A	7: 55,772,114 (GRCm39)	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,057,136 (GRCm39)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,326,896 (GRCm39)		probably benign	Het
Lgr4	C	T	2: 109,837,626 (GRCm39)		probably benign	Het
Lrrc55	T	C	2: 85,022,264 (GRCm39)	E309G	probably damaging	Het
Mertk	T	C	2: 128,635,027 (GRCm39)		probably null	Het
Micu3	A	G	8: 40,819,294 (GRCm39)		probably benign	Het
Mmp11	G	A	10: 75,762,592 (GRCm39)	A287V	probably benign	Het
Mpzl2	A	G	9: 44,954,039 (GRCm39)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,415,752 (GRCm39)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,794,857 (GRCm39)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Ncapd3	T	G	9: 26,969,179 (GRCm39)	V611G	probably damaging	Het
Ntpcr	C	T	8: 126,464,093 (GRCm39)	R73*	probably null	Het
Or4c120	A	T	2: 89,000,704 (GRCm39)	V284E	probably benign	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,664,709 (GRCm39)	F88S	probably damaging	Het
Pkn3	A	T	2: 29,979,889 (GRCm39)	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,285,602 (GRCm39)	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,486,065 (GRCm39)	T408A	probably benign	Het
Prss41	T	C	17: 24,061,477 (GRCm39)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,817,378 (GRCm39)		probably benign	Het
Ptprq	A	T	10: 107,444,036 (GRCm39)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,828,086 (GRCm39)	D470G	probably damaging	Het
Scarb1	A	G	5: 125,375,795 (GRCm39)		probably benign	Het
Slc25a54	G	A	3: 109,010,112 (GRCm39)	A204T	probably damaging	Het
Spink10	T	C	18: 62,793,036 (GRCm39)	C67R	probably damaging	Het
Tmtc1	A	T	6: 148,314,138 (GRCm39)		probably null	Het
Tprkb	A	G	6: 85,901,446 (GRCm39)	D28G	probably benign	Het
Ttll13	A	G	7: 79,910,098 (GRCm39)	H747R	probably benign	Het
Usp24	A	G	4: 106,259,302 (GRCm39)	S1608G	probably benign	Het
Utp20	A	T	10: 88,596,774 (GRCm39)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,579,361 (GRCm39)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,046,254 (GRCm39)	M103K	probably damaging	Het
Zfp595	C	T	13: 67,465,369 (GRCm39)	G298E	probably damaging	Het
Zfp738	T	G	13: 67,818,140 (GRCm39)	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,442,163 (GRCm39)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,546,071 (GRCm39)	D80Y	probably damaging	Het

Other mutations in Kbtbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Kbtbd2	APN	6	56,756,033 (GRCm39)	missense	possibly damaging	0.94
infinitesimal	UTSW	6	56,756,075 (GRCm39)	missense	probably damaging	1.00
teeny	UTSW	6	56,757,374 (GRCm39)	nonsense	probably null
tiny	UTSW	6	56,756,191 (GRCm39)	missense	probably damaging	0.99
R1452:Kbtbd2	UTSW	6	56,758,909 (GRCm39)	missense	probably damaging	0.98
R1696:Kbtbd2	UTSW	6	56,756,326 (GRCm39)	missense	probably benign	0.00
R2146:Kbtbd2	UTSW	6	56,756,075 (GRCm39)	missense	probably damaging	1.00
R4563:Kbtbd2	UTSW	6	56,766,264 (GRCm39)	missense	probably benign
R4579:Kbtbd2	UTSW	6	56,755,893 (GRCm39)	missense	probably damaging	0.99
R4702:Kbtbd2	UTSW	6	56,756,288 (GRCm39)	missense	probably benign	0.00
R4855:Kbtbd2	UTSW	6	56,756,687 (GRCm39)	missense	probably benign	0.01
R4959:Kbtbd2	UTSW	6	56,758,943 (GRCm39)	missense	probably benign	0.11
R4973:Kbtbd2	UTSW	6	56,758,943 (GRCm39)	missense	probably benign	0.11
R5096:Kbtbd2	UTSW	6	56,756,260 (GRCm39)	missense	probably benign	0.06
R6360:Kbtbd2	UTSW	6	56,756,191 (GRCm39)	missense	probably damaging	0.99
R6754:Kbtbd2	UTSW	6	56,756,239 (GRCm39)	missense	probably damaging	0.99
R6864:Kbtbd2	UTSW	6	56,757,011 (GRCm39)	nonsense	probably null
R6900:Kbtbd2	UTSW	6	56,757,008 (GRCm39)	missense	probably damaging	1.00
R7738:Kbtbd2	UTSW	6	56,756,722 (GRCm39)	missense	possibly damaging	0.92
R8409:Kbtbd2	UTSW	6	56,757,341 (GRCm39)	missense	probably damaging	0.97
R9203:Kbtbd2	UTSW	6	56,755,987 (GRCm39)	missense	probably damaging	0.98
R9213:Kbtbd2	UTSW	6	56,756,917 (GRCm39)	missense	probably damaging	1.00
R9278:Kbtbd2	UTSW	6	56,757,331 (GRCm39)	missense	probably damaging	0.99
R9280:Kbtbd2	UTSW	6	56,755,997 (GRCm39)	missense	probably damaging	1.00
R9427:Kbtbd2	UTSW	6	56,756,132 (GRCm39)	missense	probably damaging	0.99
R9715:Kbtbd2	UTSW	6	56,756,566 (GRCm39)	missense	probably benign	0.00
Z1176:Kbtbd2	UTSW	6	56,757,294 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTACTCTAGCCAGAGCATGGCAG -3'
(R):5'- GATTACCAGTGTGTGCCACTCATCC -3'

Sequencing Primer
(F):5'- CTACATTTAAGTTGTCGCTGCTGAG -3'
(R):5'- TAAAACTTGACAGTACAGGAGCATC -3'

Posted On

2013-05-23