Mutagenetix > Incidental Mutation

Incidental Mutation 'R7224:Kbtbd12'

562019

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

045296-MU

Accession Numbers

Essential gene?

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

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88521931-88604636 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 88590965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 416 (R416*)

Ref Sequence

ENSEMBL: ENSMUSP00000112581 (fasta)

Gene Model

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

AlphaFold

Q9D618

Predicted Effect

probably null
Transcript: ENSMUST00000120933
AA Change: R416*

SMART Domains

Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: R416*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,943,275 (GRCm39)	T60M	probably benign	Het
Actn4	C	T	7: 28,661,509 (GRCm39)	A34T	probably benign	Het
Acvrl1	A	G	15: 101,041,245 (GRCm39)	M466V	probably benign	Het
Adamts7	T	C	9: 90,067,868 (GRCm39)	Y453H	probably damaging	Het
Amfr	G	A	8: 94,711,484 (GRCm39)	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,516,688 (GRCm39)	T492M	probably benign	Het
Anxa6	A	G	11: 54,876,993 (GRCm39)	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,318,384 (GRCm39)	Y394D	unknown	Het
Atic	G	A	1: 71,610,014 (GRCm39)	V342I	probably benign	Het
Atl1	C	A	12: 70,002,127 (GRCm39)	T362N	probably benign	Het
Atp10a	A	T	7: 58,447,219 (GRCm39)	M654L	probably benign	Het
B3gnt5	A	T	16: 19,588,503 (GRCm39)	M241L	probably benign	Het
Bbs7	A	G	3: 36,659,877 (GRCm39)	V186A	possibly damaging	Het
Brme1	A	G	8: 84,898,842 (GRCm39)	T577A	probably benign	Het
C8b	T	C	4: 104,637,795 (GRCm39)	L89P	probably damaging	Het
Capn7	G	T	14: 31,092,678 (GRCm39)	E742*	probably null	Het
Ccdc162	G	A	10: 41,437,187 (GRCm39)	R1741C	probably damaging	Het
Cdhr17	T	C	5: 17,041,592 (GRCm39)	V615A	possibly damaging	Het
Chsy3	T	A	18: 59,542,047 (GRCm39)	L395H	probably damaging	Het
Cnot9	A	G	1: 74,556,388 (GRCm39)	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp2d12	T	A	15: 82,441,849 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,436,420 (GRCm39)	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,584,196 (GRCm39)	G533D	possibly damaging	Het
Eddm13	T	G	7: 6,271,801 (GRCm39)	M77R	probably benign	Het
Elfn1	A	G	5: 139,958,228 (GRCm39)	S411G	probably benign	Het
Enpp3	T	C	10: 24,652,782 (GRCm39)	D725G	possibly damaging	Het
Fmnl1	T	C	11: 103,073,595 (GRCm39)		probably null	Het
Fndc8	T	C	11: 82,783,151 (GRCm39)	M44T	probably benign	Het
Gcgr	A	T	11: 120,425,538 (GRCm39)		probably benign	Het
Ggt1	T	A	10: 75,410,110 (GRCm39)	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,331,447 (GRCm39)	I198M	unknown	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm6034	T	A	17: 36,367,331 (GRCm39)	S59T	unknown	Het
Gm6408	G	A	5: 146,421,180 (GRCm39)	V270I	probably benign	Het
Gpr20	A	T	15: 73,567,981 (GRCm39)	I136N	probably damaging	Het
Ide	T	C	19: 37,268,160 (GRCm39)	E565G		Het
Igsf9	T	C	1: 172,322,349 (GRCm39)	S515P	probably damaging	Het
Kcnd3	A	T	3: 105,576,400 (GRCm39)	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,756,805 (GRCm39)	M265L	probably benign	Het
Klhdc1	G	A	12: 69,309,923 (GRCm39)	S275N	probably damaging	Het
Ldc1	C	G	4: 130,112,992 (GRCm39)	A135P	probably damaging	Het
Lrba	A	C	3: 86,302,553 (GRCm39)	N1871T	probably damaging	Het
Lrrk1	A	G	7: 65,982,134 (GRCm39)	V169A	probably damaging	Het
Magi1	A	G	6: 93,660,070 (GRCm39)	I1175T	probably benign	Het
Man1a2	T	C	3: 100,489,369 (GRCm39)	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,459,209 (GRCm39)	N129S	probably damaging	Het
Mup5	G	A	4: 61,750,622 (GRCm39)	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,488,877 (GRCm39)	R216C	probably damaging	Het
Neb	T	C	2: 52,224,671 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or52m2	A	T	7: 102,263,974 (GRCm39)	M74K	probably damaging	Het
Or5a1	T	C	19: 12,097,912 (GRCm39)	T55A	probably benign	Het
Or8b12b	G	A	9: 37,684,711 (GRCm39)	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,110,872 (GRCm39)	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,706,511 (GRCm39)	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,895,241 (GRCm39)	L623P		Het
Plxdc1	T	C	11: 97,823,153 (GRCm39)	T363A	possibly damaging	Het
Pole3	T	C	4: 62,442,287 (GRCm39)	D111G	unknown	Het
R3hdm2	T	A	10: 127,294,022 (GRCm39)	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,599,322 (GRCm39)	V90A		Het
Rcbtb1	C	G	14: 59,465,828 (GRCm39)	I390M	probably damaging	Het
Romo1	G	A	2: 155,986,295 (GRCm39)		probably benign	Het
Sars1	A	G	3: 108,335,519 (GRCm39)	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,224,724 (GRCm39)	T327A	probably benign	Het
Slc30a5	A	G	13: 100,945,762 (GRCm39)	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,473,044 (GRCm39)	E43K	probably benign	Het
Slc38a2	A	C	15: 96,589,240 (GRCm39)	L418W	probably damaging	Het
Snx14	T	C	9: 88,276,614 (GRCm39)	E557G	possibly damaging	Het
Spata33	T	A	8: 123,948,737 (GRCm39)	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,714,839 (GRCm39)	H170L	probably damaging	Het
Trpm1	A	G	7: 63,868,854 (GRCm39)		probably null	Het
Tsr3	A	T	17: 25,461,569 (GRCm39)	E302D	probably benign	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Usp2	C	T	9: 43,987,266 (GRCm39)	T188M	possibly damaging	Het
Usp44	A	G	10: 93,681,855 (GRCm39)	I102V	probably benign	Het
Wasf1	A	G	10: 40,802,546 (GRCm39)	N67S	probably benign	Het
Zfp445	T	C	9: 122,681,208 (GRCm39)	N911S	probably benign	Het
Zfp467	A	G	6: 48,421,903 (GRCm39)		probably null	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
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
R9773:Kbtbd12	UTSW	6	88,524,744 (GRCm39)	missense	probably damaging	1.00
Z1177:Kbtbd12	UTSW	6	88,595,650 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAAAATGTCAGCCATCATC -3'
(R):5'- TTGCCATGGTAACTCTAATCCTG -3'

Sequencing Primer
(F):5'- GTCAAAATGTCAGCCATCATCTTTAC -3'
(R):5'- CTCTCCTTGCAGGTATCATGATAGAG -3'

Posted On

2019-06-26