Mutagenetix > Incidental Mutation

Incidental Mutation 'R5096:Kbtbd2'

388040

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd2

Ensembl Gene

ENSMUSG00000059486

Gene Name

kelch repeat and BTB (POZ) domain containing 2

Synonyms

Bklhd1

MMRRC Submission

042685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5096 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56754510-56774798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56756260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 492 (V492A)

Ref Sequence

ENSEMBL: ENSMUSP00000109962 (fasta)

Gene Model

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

AlphaFold

G3X9X1

Predicted Effect

probably benign
Transcript: ENSMUST00000114321
AA Change: V492A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: V492A

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 benign
Transcript: ENSMUST00000114323
AA Change: V492A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: V492A

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

0.0639

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.6%

Validation Efficiency

95% (61/64)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,916,679 (GRCm39)		probably benign	Het
Adar	T	A	3: 89,654,598 (GRCm39)	*728C	probably null	Het
Ap3b1	A	G	13: 94,616,357 (GRCm39)	R753G	unknown	Het
Atp9b	C	T	18: 80,805,399 (GRCm39)	V720I	probably benign	Het
AY358078	A	C	14: 52,063,575 (GRCm39)	D407A	probably benign	Het
Ccdc185	A	G	1: 182,576,354 (GRCm39)	S112P	possibly damaging	Het
Cir1	A	G	2: 73,134,105 (GRCm39)	S155P	probably damaging	Het
Colq	C	T	14: 31,274,911 (GRCm39)	E76K	possibly damaging	Het
Cthrc1	T	A	15: 38,947,815 (GRCm39)	I104N	probably damaging	Het
D930020B18Rik	A	T	10: 121,503,709 (GRCm39)	I92L	probably benign	Het
Eif3i	C	T	4: 129,494,237 (GRCm39)	E21K	probably damaging	Het
Fam114a1	T	A	5: 65,137,234 (GRCm39)	M59K	probably benign	Het
Fam163b	A	G	2: 27,002,761 (GRCm39)	S79P	probably benign	Het
Fam181b	T	G	7: 92,730,452 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,821,460 (GRCm39)	S5731N	probably benign	Het
Fzd9	C	T	5: 135,278,713 (GRCm39)	V391I	probably damaging	Het
Gbp5	A	G	3: 142,207,122 (GRCm39)	D97G	probably damaging	Het
Gm10715	T	C	9: 3,038,157 (GRCm39)		probably benign	Het
Grhl1	A	T	12: 24,653,049 (GRCm39)	K418M	probably damaging	Het
H2-Q4	T	A	17: 35,598,689 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,486,420 (GRCm39)	A4329S	probably damaging	Het
Hspa8	T	C	9: 40,714,197 (GRCm39)		probably benign	Het
Ica1l	T	C	1: 60,067,313 (GRCm39)	T26A	possibly damaging	Het
Ifi209	T	A	1: 173,472,300 (GRCm39)	N380K	probably benign	Het
Inpp5e	G	T	2: 26,289,537 (GRCm39)	N482K	probably damaging	Het
Iqsec3	C	T	6: 121,363,657 (GRCm39)	V866M	probably damaging	Het
Kcnb2	A	G	1: 15,781,068 (GRCm39)	R647G	probably benign	Het
Lcmt1	T	G	7: 123,000,691 (GRCm39)	V75G	probably damaging	Het
Lrp4	A	G	2: 91,316,137 (GRCm39)	I752V	possibly damaging	Het
Mmp17	C	A	5: 129,682,627 (GRCm39)	P422Q	probably damaging	Het
Myo3a	A	T	2: 22,464,254 (GRCm39)	H165L	probably benign	Het
Nos3	C	T	5: 24,576,955 (GRCm39)	T494I	probably damaging	Het
Or1ak2	T	C	2: 36,827,815 (GRCm39)	V228A	possibly damaging	Het
Or4p22	C	T	2: 88,317,646 (GRCm39)	T190I	possibly damaging	Het
Or51q1c	T	C	7: 103,652,667 (GRCm39)	Y68H	probably benign	Het
Or8u8	A	G	2: 86,012,276 (GRCm39)	Y60H	probably damaging	Het
Pkn2	A	C	3: 142,545,092 (GRCm39)	V27G	probably damaging	Het
Scube2	T	C	7: 109,398,451 (GRCm39)		probably benign	Het
Skint7	A	G	4: 111,839,152 (GRCm39)	I149V	probably damaging	Het
Smc4	T	A	3: 68,928,612 (GRCm39)	I412K	probably damaging	Het
Snx19	T	A	9: 30,340,082 (GRCm39)	C407S	probably benign	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Sytl2	T	A	7: 90,025,290 (GRCm39)	I426N	possibly damaging	Het
Tbce	A	T	13: 14,203,990 (GRCm39)		probably benign	Het
Tdpoz2	T	C	3: 93,559,819 (GRCm39)	E51G	possibly damaging	Het
Tmem221	A	G	8: 72,011,353 (GRCm39)	L34P	probably damaging	Het
Tmem92	T	C	11: 94,669,862 (GRCm39)	T90A	probably benign	Het
Tpr	A	G	1: 150,321,953 (GRCm39)	D42G	probably damaging	Het
Wt1	A	G	2: 104,973,470 (GRCm39)	T237A	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
R0491:Kbtbd2	UTSW	6	56,757,374 (GRCm39)	nonsense	probably null
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
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'- AGTTCCAAATCATACTGGTAGGTG -3'
(R):5'- GCAGCAGTTGTAGTTCACGAC -3'

Sequencing Primer
(F):5'- ACTGGTAGGTGACATACTTAGCTC -3'
(R):5'- AGTTCACGACTGCATCTATGTG -3'

Posted On

2016-06-06