Mutagenetix > Incidental Mutation

Incidental Mutation 'R4702:Kbtbd2'

356121

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd2

Ensembl Gene

ENSMUSG00000059486

Gene Name

kelch repeat and BTB (POZ) domain containing 2

Synonyms

Bklhd1

MMRRC Submission

041950-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56754510-56774798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56756288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 483 (S483P)

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: S483P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: S483P

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: S483P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: S483P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,509 (GRCm39)	T390A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Adra1a	T	C	14: 66,875,008 (GRCm39)		probably benign	Het
Aff1	T	C	5: 103,958,935 (GRCm39)	Y343H	probably damaging	Het
Antxr2	C	T	5: 98,097,028 (GRCm39)		probably null	Het
Ap1m2	A	G	9: 21,209,591 (GRCm39)	F362L	probably benign	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Armc3	A	G	2: 19,314,792 (GRCm39)	N822S	probably damaging	Het
Atr	A	C	9: 95,802,408 (GRCm39)	T1767P	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
Bloc1s1	T	A	10: 128,759,267 (GRCm39)	Q13L	probably damaging	Het
Blvra	A	C	2: 126,933,982 (GRCm39)	I125L	probably benign	Het
Caps2	T	C	10: 112,044,252 (GRCm39)	F484L	probably damaging	Het
Cep76	A	T	18: 67,767,968 (GRCm39)	I188K	possibly damaging	Het
Cidea	T	A	18: 67,500,498 (GRCm39)	F187I	probably benign	Het
Cntn3	T	A	6: 102,142,292 (GRCm39)	N1025I	probably benign	Het
Cntnap3	A	T	13: 64,926,676 (GRCm39)	C565S	probably benign	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Cyp2d26	C	T	15: 82,676,648 (GRCm39)		probably benign	Het
Cyp2j12	A	T	4: 96,021,230 (GRCm39)		probably null	Het
Dnajb13	T	C	7: 100,153,748 (GRCm39)	N229S	probably benign	Het
Dpys	A	G	15: 39,656,798 (GRCm39)	V423A	possibly damaging	Het
Eif4e1b	A	T	13: 54,935,138 (GRCm39)	I222F	probably damaging	Het
Eif5b	A	T	1: 38,057,958 (GRCm39)	N87Y	unknown	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epha7	T	A	4: 28,961,425 (GRCm39)	L890Q	probably damaging	Het
Fancm	T	A	12: 65,168,826 (GRCm39)	S1730T	possibly damaging	Het
Flrt3	A	G	2: 140,503,575 (GRCm39)	F18L	probably benign	Het
Git2	A	G	5: 114,883,543 (GRCm39)	S396P	probably damaging	Het
H2-M10.4	A	G	17: 36,772,874 (GRCm39)	I36T	probably benign	Het
Igfn1	G	A	1: 135,894,947 (GRCm39)	S1873L	possibly damaging	Het
Ints12	A	T	3: 132,802,546 (GRCm39)	D10V	probably damaging	Het
Kcnv2	G	C	19: 27,300,967 (GRCm39)	A273P	probably damaging	Het
Klc3	T	G	7: 19,129,756 (GRCm39)	D371A	probably damaging	Het
Lama3	T	A	18: 12,711,086 (GRCm39)	L1567*	probably null	Het
Ldhal6b	G	T	17: 5,468,582 (GRCm39)	H117Q	probably damaging	Het
Lrriq1	G	T	10: 103,051,610 (GRCm39)	Q381K	possibly damaging	Het
Mrps31	T	A	8: 22,909,754 (GRCm39)	L140Q	probably damaging	Het
Myo15b	A	G	11: 115,774,834 (GRCm39)	T2119A	probably benign	Het
Nkx6-2	T	C	7: 139,161,456 (GRCm39)	D243G	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or8b3b	A	T	9: 38,584,776 (GRCm39)	M1K	probably null	Het
Papln	C	T	12: 83,828,757 (GRCm39)	T821I	probably benign	Het
Pitpnb	T	G	5: 111,519,218 (GRCm39)	V166G	probably benign	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Plcxd3	C	A	15: 4,405,269 (GRCm39)	S25R	probably benign	Het
Ppargc1a	T	C	5: 51,653,038 (GRCm39)	I175V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,799,715 (GRCm39)	Q687H	probably benign	Het
Prpf3	A	G	3: 95,741,404 (GRCm39)	V584A	probably damaging	Het
Psen2	A	G	1: 180,055,289 (GRCm39)	L399S	probably damaging	Het
Ptchd3	G	A	11: 121,727,235 (GRCm39)	V370I	probably damaging	Het
Rasa3	G	T	8: 13,620,394 (GRCm39)	D758E	probably benign	Het
Reck	T	C	4: 43,898,060 (GRCm39)	C113R	probably damaging	Het
Resf1	A	G	6: 149,230,901 (GRCm39)	T1316A	probably benign	Het
Ric1	T	A	19: 29,575,417 (GRCm39)	F1009I	possibly damaging	Het
Rrp12	T	C	19: 41,859,975 (GRCm39)	N1035S	probably damaging	Het
Rtel1	T	A	2: 180,993,962 (GRCm39)	S849T	probably benign	Het
Scn10a	A	T	9: 119,462,857 (GRCm39)	Y1060N	possibly damaging	Het
Selenov	A	G	7: 27,987,436 (GRCm39)	L314P	probably damaging	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc7a14	T	A	3: 31,284,547 (GRCm39)	Y263F	probably damaging	Het
Slco3a1	A	G	7: 73,970,315 (GRCm39)	S431P	probably damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Spopl	A	T	2: 23,405,309 (GRCm39)		probably null	Het
Stk10	A	T	11: 32,505,172 (GRCm39)	T69S	probably benign	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tec	G	A	5: 72,941,074 (GRCm39)	P161L	possibly damaging	Het
Tnip1	A	G	11: 54,815,228 (GRCm39)	S339P	probably benign	Het
Tsen34	T	A	7: 3,703,632 (GRCm39)	V290D	probably damaging	Het
Tuba1a	T	A	15: 98,849,563 (GRCm39)	I5F	possibly damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn1r63	T	C	7: 5,806,516 (GRCm39)	R39G	possibly damaging	Het
Xylt2	A	G	11: 94,560,355 (GRCm39)	Y307H	possibly damaging	Het
Zfp65	A	G	13: 67,872,341 (GRCm39)	M1T	probably null	Het
Zmym4	T	C	4: 126,816,958 (GRCm39)	I247V	probably benign	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
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'- CACCGGTCAAGTTCCAAATC -3'
(R):5'- AGTTCACGACTGCATCTATGTG -3'

Sequencing Primer
(F):5'- CGGTCAAGTTCCAAATCATACTGG -3'
(R):5'- GTGATGACATTAAACCTCATGTACTG -3'

Posted On

2015-10-21