Mutagenetix > Incidental Mutation

Incidental Mutation 'R9773:Kbtbd12'

733527

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd12

Ensembl Gene

ENSMUSG00000033182

Gene Name

kelch repeat and BTB (POZ) domain containing 12

Synonyms

4933428M03Rik, 4833415F11Rik, Klhdc6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9773 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88521931-88604636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88524744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 613 (D613V)

Ref Sequence

ENSEMBL: ENSMUSP00000112581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120933] [ENSMUST00000184878]

AlphaFold

Q9D618

Predicted Effect

probably damaging
Transcript: ENSMUST00000120933
AA Change: D613V

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

SMART Domains

Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: D613V

Domain	Start	End	E-Value	Type
BTB	29	126	1.39e-23	SMART
BACK	131	233	6.69e-30	SMART
Kelch	384	434	9.15e-3	SMART
Kelch	435	490	4.3e-8	SMART
Kelch	491	550	1.01e-1	SMART
Kelch	551	601	1.92e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000184878
AA Change: D190V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139333
Gene: ENSMUSG00000033182
AA Change: D190V

Domain	Start	End	E-Value	Type
Kelch	30	67	9.94e-1	SMART
Kelch	68	127	1.01e-1	SMART
Kelch	128	178	1.92e0	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,668,057 (GRCm39)	Y483H	possibly damaging	Het
Abca17	A	G	17: 24,508,565 (GRCm39)	L990P	probably damaging	Het
Ankrd65	A	C	4: 155,877,424 (GRCm39)	T312P	probably damaging	Het
Atp23	G	A	10: 126,734,763 (GRCm39)	T103M	possibly damaging	Het
Bmpr2	T	A	1: 59,907,497 (GRCm39)	S863R	probably damaging	Het
Cacna1c	T	A	6: 118,647,371 (GRCm39)	N992I		Het
Cacnb2	A	G	2: 14,976,452 (GRCm39)	E291G	probably damaging	Het
Calcrl	T	C	2: 84,200,462 (GRCm39)	Q106R	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cngb1	G	A	8: 95,975,042 (GRCm39)	H1144Y	probably damaging	Het
Cnot4	A	T	6: 35,056,920 (GRCm39)	N50K	probably damaging	Het
Coasy	T	C	11: 100,975,163 (GRCm39)	L240P	probably damaging	Het
D7Ertd443e	G	A	7: 133,959,803 (GRCm39)	T12M	probably benign	Het
Exoc3l2	A	G	7: 19,203,697 (GRCm39)	I96M		Het
Fbn2	A	G	18: 58,143,481 (GRCm39)	L2858P	probably benign	Het
Fbxw21	A	G	9: 108,977,128 (GRCm39)	S194P	possibly damaging	Het
Fry	T	C	5: 150,322,728 (GRCm39)	L1040P	probably damaging	Het
Gimap8	C	T	6: 48,633,568 (GRCm39)	P300S	unknown	Het
Gm10801	T	G	2: 98,494,345 (GRCm39)	F141V	probably benign	Het
Gm21903	G	A	17: 39,353,541 (GRCm39)	T25I	unknown	Het
Gucy2d	T	C	7: 98,099,048 (GRCm39)	V288A	possibly damaging	Het
Hs6st3	A	T	14: 120,106,948 (GRCm39)	D452V	probably benign	Het
Igkv5-43	T	A	6: 69,752,858 (GRCm39)	I75F	probably damaging	Het
Itgad	G	A	7: 127,789,222 (GRCm39)	R562H	probably damaging	Het
Kcnn2	A	G	18: 45,788,365 (GRCm39)	T363A	probably damaging	Het
Kyat3	A	G	3: 142,431,820 (GRCm39)	I213M	probably damaging	Het
Lrig2	A	T	3: 104,368,838 (GRCm39)	H948Q	probably benign	Het
Marchf7	C	T	2: 60,064,785 (GRCm39)	R354*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Myh4	C	T	11: 67,137,263 (GRCm39)	H495Y	probably damaging	Het
Or13a23-ps1	T	C	7: 140,118,649 (GRCm39)	V73A	probably benign	Het
Or4d10b	A	T	19: 12,036,939 (GRCm39)	M59K	possibly damaging	Het
Or6c69c	T	A	10: 129,910,360 (GRCm39)	I27N	possibly damaging	Het
Plcb2	T	C	2: 118,541,274 (GRCm39)	E1021G	probably damaging	Het
Plekhg2	G	A	7: 28,069,743 (GRCm39)	P97S	probably damaging	Het
Pon1	T	C	6: 5,177,339 (GRCm39)	Y190C	possibly damaging	Het
Pth1r	C	A	9: 110,556,233 (GRCm39)	R213S	possibly damaging	Het
Ptprg	A	G	14: 12,199,806 (GRCm38)	D848G	probably damaging	Het
Rnpepl1	C	A	1: 92,847,559 (GRCm39)	D715E	probably damaging	Het
Serpinb3b	C	A	1: 107,085,416 (GRCm39)	K108N	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Slc22a30	A	T	19: 8,321,754 (GRCm39)	Y437N	probably benign	Het
Slc2a7	C	T	4: 150,234,044 (GRCm39)	T53I	possibly damaging	Het
Spag1	A	G	15: 36,234,711 (GRCm39)	T824A	probably benign	Het
Spmip7	G	A	11: 11,438,572 (GRCm39)	V272M	unknown	Het
Synj2	T	A	17: 6,094,232 (GRCm39)	Y1153N	probably benign	Het
Ttll2	A	T	17: 7,618,676 (GRCm39)	I417K	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Uevld	A	G	7: 46,597,659 (GRCm39)		probably null	Het
Vmn2r38	A	G	7: 9,097,806 (GRCm39)	S96P	probably damaging	Het
Vmn2r92	A	G	17: 18,386,949 (GRCm39)	N96S	probably damaging	Het
Vmn2r97	T	A	17: 19,168,221 (GRCm39)	I825N	probably benign	Het
Vps13d	T	A	4: 144,818,619 (GRCm39)	M3083L		Het
Wdr35	A	G	12: 9,039,990 (GRCm39)	N365S	probably benign	Het

Other mutations in Kbtbd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01600:Kbtbd12	APN	6	88,595,540 (GRCm39)	missense	probably benign	0.08
IGL01845:Kbtbd12	APN	6	88,590,922 (GRCm39)	missense	probably benign	0.16
IGL02447:Kbtbd12	APN	6	88,595,676 (GRCm39)	missense	probably damaging	1.00
IGL02623:Kbtbd12	APN	6	88,595,371 (GRCm39)	missense	probably damaging	1.00
IGL02851:Kbtbd12	APN	6	88,595,311 (GRCm39)	missense	probably benign	0.18
R0334:Kbtbd12	UTSW	6	88,594,888 (GRCm39)	missense	probably damaging	0.99
R1689:Kbtbd12	UTSW	6	88,595,567 (GRCm39)	missense	probably damaging	1.00
R1712:Kbtbd12	UTSW	6	88,595,676 (GRCm39)	missense	probably damaging	1.00
R1777:Kbtbd12	UTSW	6	88,595,042 (GRCm39)	missense	probably benign	0.00
R2037:Kbtbd12	UTSW	6	88,594,779 (GRCm39)	missense	probably benign	0.00
R3967:Kbtbd12	UTSW	6	88,595,488 (GRCm39)	missense	probably benign	0.01
R4660:Kbtbd12	UTSW	6	88,594,772 (GRCm39)	missense	probably benign	0.44
R4785:Kbtbd12	UTSW	6	88,595,003 (GRCm39)	missense	probably damaging	1.00
R5224:Kbtbd12	UTSW	6	88,594,681 (GRCm39)	intron	probably benign
R5568:Kbtbd12	UTSW	6	88,595,609 (GRCm39)	missense	probably damaging	1.00
R6051:Kbtbd12	UTSW	6	88,594,930 (GRCm39)	missense	possibly damaging	0.69
R6412:Kbtbd12	UTSW	6	88,595,638 (GRCm39)	missense	probably damaging	1.00
R6525:Kbtbd12	UTSW	6	88,591,062 (GRCm39)	missense	probably benign	0.29
R6776:Kbtbd12	UTSW	6	88,595,248 (GRCm39)	missense	probably damaging	0.97
R7046:Kbtbd12	UTSW	6	88,595,497 (GRCm39)	missense	possibly damaging	0.89
R7157:Kbtbd12	UTSW	6	88,595,650 (GRCm39)	missense	probably damaging	1.00
R7224:Kbtbd12	UTSW	6	88,590,965 (GRCm39)	nonsense	probably null
R7303:Kbtbd12	UTSW	6	88,591,094 (GRCm39)	missense	unknown
R7650:Kbtbd12	UTSW	6	88,595,530 (GRCm39)	missense	probably damaging	1.00
R7763:Kbtbd12	UTSW	6	88,595,179 (GRCm39)	missense	probably benign	0.31
R7982:Kbtbd12	UTSW	6	88,595,616 (GRCm39)	missense	possibly damaging	0.61
R8103:Kbtbd12	UTSW	6	88,595,663 (GRCm39)	missense	probably damaging	1.00
R8195:Kbtbd12	UTSW	6	88,594,913 (GRCm39)	missense	possibly damaging	0.64
R8305:Kbtbd12	UTSW	6	88,595,132 (GRCm39)	missense	possibly damaging	0.50
R9072:Kbtbd12	UTSW	6	88,595,422 (GRCm39)	missense	probably damaging	1.00
R9073:Kbtbd12	UTSW	6	88,595,422 (GRCm39)	missense	probably damaging	1.00
R9438:Kbtbd12	UTSW	6	88,591,040 (GRCm39)	nonsense	probably null
Z1177:Kbtbd12	UTSW	6	88,595,650 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCTATGCATGCGATAAGAATG -3'
(R):5'- TCTGAGCTTAACACTGCCATG -3'

Sequencing Primer
(F):5'- CTATGCATGCGATAAGAATGTCAGC -3'
(R):5'- AGCTTAACACTGCCATGGTTTTG -3'

Posted On

2022-11-14