Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Kbtbd2'

233827

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd2

Ensembl Gene

ENSMUSG00000059486

Gene Name

kelch repeat and BTB (POZ) domain containing 2

Synonyms

Bklhd1

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56777524-56797813 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56779090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 554 (Y554H)

Ref Sequence

ENSEMBL: ENSMUSP00000109962 (fasta)

Gene Model

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

AlphaFold

G3X9X1

Predicted Effect

probably damaging
Transcript: ENSMUST00000114321
AA Change: Y554H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: Y554H

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 damaging
Transcript: ENSMUST00000114323
AA Change: Y554H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: Y554H

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

0.9178

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,844		probably null	Het
4933406M09Rik	T	A	1: 134,390,513	M341K	probably damaging	Het
9530002B09Rik	T	A	4: 122,689,405	C13*	probably null	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Adamts18	G	C	8: 113,845,003	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226	N143K	possibly damaging	Het
BC005561	T	C	5: 104,518,991	F460L	probably benign	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Ccdc185	G	T	1: 182,747,520	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,885,225		probably benign	Het
Cd163	A	G	6: 124,309,208	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Chsy3	G	A	18: 59,176,472	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,822	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cstf1	T	C	2: 172,375,763	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358	T317I	probably damaging	Het
Dennd3	C	T	15: 73,523,496	T146M	probably damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dnah2	T	C	11: 69,515,761	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610	L458R	probably benign	Het
Elmsan1	G	T	12: 84,173,035	P382T	probably damaging	Het
Fat3	A	T	9: 15,990,512	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378		probably benign	Het
Ints9	G	A	14: 64,986,343	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613	W441R	probably damaging	Het
Itga10	T	C	3: 96,651,492	L382P	possibly damaging	Het
Itga10	G	T	3: 96,653,723	G635W	probably damaging	Het
Kif1b	T	C	4: 149,184,309	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802	V144E	probably benign	Het
Mcam	T	C	9: 44,136,635	V59A	probably damaging	Het
Mdga2	C	T	12: 66,868,741	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627	E38V	probably damaging	Het
Mfrp	T	C	9: 44,103,718	L314P	probably benign	Het
Mospd2	A	G	X: 164,956,477		probably null	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1104	T	A	2: 87,021,665	N293I	probably damaging	Het
Olfr1465	T	C	19: 13,314,121	T55A	probably benign	Het
Olfr156	A	G	4: 43,821,178	F61S	probably damaging	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752	M490V	probably benign	Het
Pet2	T	C	X: 89,406,277	D82G	possibly damaging	Het
Pkd2	A	C	5: 104,455,590		probably benign	Het
Reps1	T	A	10: 18,093,313	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629	D432G	probably damaging	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,036	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707		probably benign	Het
Ttn	T	C	2: 76,897,188		probably benign	Het
Usp16	T	C	16: 87,473,187		probably null	Het
Usp36	A	G	11: 118,268,665	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816	I72V	probably benign	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	Het

Other mutations in Kbtbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Kbtbd2	APN	6	56779048	missense	possibly damaging	0.94
infinitesimal	UTSW	6	56779090	missense	probably damaging	1.00
teeny	UTSW	6	56780389	nonsense	probably null
tiny	UTSW	6	56779206	missense	probably damaging	0.99
R0491:Kbtbd2	UTSW	6	56780389	nonsense	probably null
R1452:Kbtbd2	UTSW	6	56781924	missense	probably damaging	0.98
R1696:Kbtbd2	UTSW	6	56779341	missense	probably benign	0.00
R4563:Kbtbd2	UTSW	6	56789279	missense	probably benign
R4579:Kbtbd2	UTSW	6	56778908	missense	probably damaging	0.99
R4702:Kbtbd2	UTSW	6	56779303	missense	probably benign	0.00
R4855:Kbtbd2	UTSW	6	56779702	missense	probably benign	0.01
R4959:Kbtbd2	UTSW	6	56781958	missense	probably benign	0.11
R4973:Kbtbd2	UTSW	6	56781958	missense	probably benign	0.11
R5096:Kbtbd2	UTSW	6	56779275	missense	probably benign	0.06
R6360:Kbtbd2	UTSW	6	56779206	missense	probably damaging	0.99
R6754:Kbtbd2	UTSW	6	56779254	missense	probably damaging	0.99
R6864:Kbtbd2	UTSW	6	56780026	nonsense	probably null
R6900:Kbtbd2	UTSW	6	56780023	missense	probably damaging	1.00
R7738:Kbtbd2	UTSW	6	56779737	missense	possibly damaging	0.92
R8409:Kbtbd2	UTSW	6	56780356	missense	probably damaging	0.97
R9203:Kbtbd2	UTSW	6	56779002	missense	probably damaging	0.98
R9213:Kbtbd2	UTSW	6	56779932	missense	probably damaging	1.00
R9278:Kbtbd2	UTSW	6	56780346	missense	probably damaging	0.99
R9280:Kbtbd2	UTSW	6	56779012	missense	probably damaging	1.00
R9427:Kbtbd2	UTSW	6	56779147	missense	probably damaging	0.99
R9715:Kbtbd2	UTSW	6	56779581	missense	probably benign	0.00
Z1176:Kbtbd2	UTSW	6	56780309	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCGGAAGTGCAACCATTTC -3'
(R):5'- CTGGCACTGTAGATGGGTCTTC -3'

Sequencing Primer
(F):5'- GGAAGTGCAACCATTTCCCCATC -3'
(R):5'- CTGTAGATGGGTCTTCAGTAACTG -3'

Posted On

2014-10-01