Mutagenetix > Incidental Mutation

Incidental Mutation 'R7650:Kbtbd12'

590747

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd12

Ensembl Gene

ENSMUSG00000033182

Gene Name

kelch repeat and BTB (POZ) domain containing 12

Synonyms

Klhdc6, 4933428M03Rik, 4833415F11Rik

MMRRC Submission

045727-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88545114-88637950 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88618548 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 100 (Q100L)

Ref Sequence

ENSEMBL: ENSMUSP00000112581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120933] [ENSMUST00000184664] [ENSMUST00000184878]

AlphaFold

Q9D618

Predicted Effect

probably damaging
Transcript: ENSMUST00000120933
AA Change: Q100L

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

SMART Domains

Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: Q100L

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 benign
Transcript: ENSMUST00000184664

SMART Domains

Protein: ENSMUSP00000139069
Gene: ENSMUSG00000033182

Domain	Start	End	E-Value	Type
Pfam:BTB	19	77	6.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184878

SMART Domains

Protein: ENSMUSP00000139333
Gene: ENSMUSG00000033182

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

Meta Mutation Damage Score

0.2986

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	G	A	7: 30,699,789	V3I	probably benign	Het
Adam33	T	C	2: 131,061,147	E59G	probably damaging	Het
Akap13	T	A	7: 75,643,454	V45E	probably benign	Het
Ap1s1	A	G	5: 137,045,533	S28P	probably benign	Het
Btnl2	T	C	17: 34,358,129	L86P	probably damaging	Het
Carm1	G	A	9: 21,580,372	V246I	probably benign	Het
Cdk5rap1	C	T	2: 154,354,116	D283N	probably benign	Het
Cfap58	C	A	19: 47,986,528	N709K	possibly damaging	Het
Col24a1	A	G	3: 145,314,453	D195G	probably benign	Het
Dcaf1	A	G	9: 106,838,344	D220G	probably benign	Het
Ddias	C	T	7: 92,858,935	G591R	probably benign	Het
Defb22	A	T	2: 152,486,103	I54K	probably benign	Het
Dennd4b	G	A	3: 90,268,749	W202*	probably null	Het
F2	T	C	2: 91,628,396	N523S	possibly damaging	Het
Fam186a	A	G	15: 99,939,907	Y2819H	unknown	Het
Fanca	A	T	8: 123,268,564		probably null	Het
Fezf2	T	C	14: 12,342,653	H404R	probably damaging	Het
Fry	A	G	5: 150,413,418	N1418S	probably damaging	Het
Gak	A	G	5: 108,584,295	S776P	probably benign	Het
Gbf1	A	G	19: 46,272,539	H1181R	probably damaging	Het
Gdf9	G	A	11: 53,437,098	E294K	probably benign	Het
Gje1	G	A	10: 14,716,424	R205*	probably null	Het
Gm12569	G	A	11: 51,234,786	E179K	possibly damaging	Het
Gm8206	T	C	14: 6,055,211		probably null	Het
Gpr162	T	A	6: 124,861,843		probably benign	Het
Gxylt1	C	T	15: 93,245,658	R363H	probably benign	Het
Hnrnph1	A	T	11: 50,383,899	M396L	probably benign	Het
Ice1	A	G	13: 70,589,797	V2177A	possibly damaging	Het
Ice1	T	A	13: 70,605,483	Q828L	probably damaging	Het
Il10	A	T	1: 131,021,455	T118S	probably benign	Het
Itpr2	C	T	6: 146,233,994	R1813Q	probably benign	Het
Kin	A	G	2: 10,092,168	D276G	possibly damaging	Het
Klhl1	T	C	14: 96,346,943	T284A	probably damaging	Het
Kmt2d	C	T	15: 98,850,870	A2858T	unknown	Het
Krt8	G	A	15: 102,004,163	T26M	probably benign	Het
Lama3	T	A	18: 12,537,838	M827K	probably benign	Het
Lingo3	T	C	10: 80,835,763	N111S	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Metap1	A	G	3: 138,466,367	V263A	probably damaging	Het
Muc5ac	A	G	7: 141,809,422	T2157A	unknown	Het
Myo1d	G	T	11: 80,601,684	H748Q	probably benign	Het
Nfkbiz	A	T	16: 55,817,839	N419K	probably benign	Het
Nol10	T	C	12: 17,362,682		probably null	Het
Nrcam	T	C	12: 44,547,322	L284P	probably damaging	Het
Nrp1	T	A	8: 128,498,014	W753R	possibly damaging	Het
Obscn	A	G	11: 59,060,994	S3978P	probably benign	Het
Olfr181	T	A	16: 58,926,053	R173*	probably null	Het
Olfr968	A	T	9: 39,771,873	F309Y	probably benign	Het
Opa3	C	A	7: 19,244,971	N120K	probably benign	Het
Pabpc1l	T	C	2: 164,049,590	L576S	probably benign	Het
Panx3	A	G	9: 37,661,405	L283S	probably damaging	Het
Pcdhb4	T	A	18: 37,309,614	V659E	probably damaging	Het
Pde4dip	A	T	3: 97,699,107		probably null	Het
Pkd1l3	T	C	8: 109,672,585	V2200A	probably benign	Het
Pkp3	G	A	7: 141,082,370	M112I	probably benign	Het
Prex2	T	C	1: 11,149,854	I683T	possibly damaging	Het
Psg22	C	A	7: 18,726,759	Q438K	possibly damaging	Het
Ptgir	T	C	7: 16,906,951	V56A	possibly damaging	Het
Pus7	G	T	5: 23,760,246	T304K	probably damaging	Het
Rab38	T	C	7: 88,430,429	Y10H	possibly damaging	Het
Ros1	C	T	10: 52,046,209	G2277D	probably benign	Het
Rpain	A	T	11: 70,970,445		probably benign	Het
Shh	C	A	5: 28,458,306	S288I	probably benign	Het
Slc26a5	C	T	5: 21,834,330	V259M	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348	E773K	probably benign	Het
Slit1	T	A	19: 41,629,924	N771I	probably damaging	Het
Stim1	T	A	7: 102,428,827	S179T		Het
Syk	A	G	13: 52,611,095	D86G	probably benign	Het
Tmem132b	T	G	5: 125,787,010	S727A	probably benign	Het
Trim42	T	A	9: 97,363,148	Y533F	probably benign	Het
Trpm6	A	T	19: 18,876,013	D1799V	possibly damaging	Het
Ttc26	T	A	6: 38,395,040	N188K	probably benign	Het
Ube4a	A	T	9: 44,933,436	I839N	probably damaging	Het
Ugt2b36	A	G	5: 87,080,972	I404T	probably damaging	Het
Ushbp1	T	A	8: 71,390,924	Q290L	possibly damaging	Het
Vcl	T	A	14: 20,995,046	I273K	probably damaging	Het
Vmn2r73	T	A	7: 85,871,939	I274L	probably benign	Het
Zc3h7b	A	G	15: 81,793,650	D945G	possibly damaging	Het
Zfp454	A	G	11: 50,883,753	L31P	probably damaging	Het
Zfp536	C	A	7: 37,569,692	V100L	probably damaging	Het
Zfp942	A	T	17: 21,928,837	S270R	probably benign	Het

Other mutations in Kbtbd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01600:Kbtbd12	APN	6	88618558	missense	probably benign	0.08
IGL01845:Kbtbd12	APN	6	88613940	missense	probably benign	0.16
IGL02447:Kbtbd12	APN	6	88618694	missense	probably damaging	1.00
IGL02623:Kbtbd12	APN	6	88618389	missense	probably damaging	1.00
IGL02851:Kbtbd12	APN	6	88618329	missense	probably benign	0.18
R0334:Kbtbd12	UTSW	6	88617906	missense	probably damaging	0.99
R1689:Kbtbd12	UTSW	6	88618585	missense	probably damaging	1.00
R1712:Kbtbd12	UTSW	6	88618694	missense	probably damaging	1.00
R1777:Kbtbd12	UTSW	6	88618060	missense	probably benign	0.00
R2037:Kbtbd12	UTSW	6	88617797	missense	probably benign	0.00
R3967:Kbtbd12	UTSW	6	88618506	missense	probably benign	0.01
R4660:Kbtbd12	UTSW	6	88617790	missense	probably benign	0.44
R4785:Kbtbd12	UTSW	6	88618021	missense	probably damaging	1.00
R5224:Kbtbd12	UTSW	6	88617699	intron	probably benign
R5568:Kbtbd12	UTSW	6	88618627	missense	probably damaging	1.00
R6051:Kbtbd12	UTSW	6	88617948	missense	possibly damaging	0.69
R6412:Kbtbd12	UTSW	6	88618656	missense	probably damaging	1.00
R6525:Kbtbd12	UTSW	6	88614080	missense	probably benign	0.29
R6776:Kbtbd12	UTSW	6	88618266	missense	probably damaging	0.97
R7046:Kbtbd12	UTSW	6	88618515	missense	possibly damaging	0.89
R7157:Kbtbd12	UTSW	6	88618668	missense	probably damaging	1.00
R7224:Kbtbd12	UTSW	6	88613983	nonsense	probably null
R7303:Kbtbd12	UTSW	6	88614112	missense	unknown
R7763:Kbtbd12	UTSW	6	88618197	missense	probably benign	0.31
R7982:Kbtbd12	UTSW	6	88618634	missense	possibly damaging	0.61
R8103:Kbtbd12	UTSW	6	88618681	missense	probably damaging	1.00
R8195:Kbtbd12	UTSW	6	88617931	missense	possibly damaging	0.64
R8305:Kbtbd12	UTSW	6	88618150	missense	possibly damaging	0.50
R9072:Kbtbd12	UTSW	6	88618440	missense	probably damaging	1.00
R9073:Kbtbd12	UTSW	6	88618440	missense	probably damaging	1.00
R9438:Kbtbd12	UTSW	6	88614058	nonsense	probably null
R9773:Kbtbd12	UTSW	6	88547762	missense	probably damaging	1.00
Z1177:Kbtbd12	UTSW	6	88618668	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTCGATGTCAAGTATTTCTCC -3'
(R):5'- AAATTCCCTTGCCACAGACTGG -3'

Sequencing Primer
(F):5'- GTCAAGTATTTCTCCATGAAGGC -3'
(R):5'- TTGCCACAGACTGGTGCTC -3'

Posted On

2019-10-24