Mutagenetix > Incidental Mutation

Incidental Mutation 'R7157:Kbtbd12'

557369

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

045258-MU

Accession Numbers

Essential gene?

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

Stock #

R7157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88521931-88604636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88595650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 60 (C60Y)

Ref Sequence

ENSEMBL: ENSMUSP00000139069 (fasta)

Gene Model

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

AlphaFold

Q9D618

Predicted Effect

probably damaging
Transcript: ENSMUST00000120933
AA Change: C60Y

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

SMART Domains

Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: C60Y

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: ENSMUST00000184664
AA Change: C60Y

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

SMART Domains

Protein: ENSMUSP00000139069
Gene: ENSMUSG00000033182
AA Change: C60Y

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,276,400 (GRCm39)	G701D	probably damaging	Het
6030468B19Rik	T	A	11: 117,693,780 (GRCm39)	N82K	probably damaging	Het
Abca17	A	T	17: 24,554,564 (GRCm39)	V130E	possibly damaging	Het
Alpk2	T	A	18: 65,399,348 (GRCm39)	K2077*	probably null	Het
Aox1	T	C	1: 58,322,651 (GRCm39)	F73S	probably benign	Het
Ap3b1	T	A	13: 94,668,542 (GRCm39)	C965*	probably null	Het
Arhgef10	T	A	8: 14,980,030 (GRCm39)	V90E	probably damaging	Het
Atr	T	A	9: 95,751,953 (GRCm39)	H523Q	probably benign	Het
Bicdl1	G	T	5: 115,789,916 (GRCm39)	Q511K	possibly damaging	Het
Capn15	A	T	17: 26,184,228 (GRCm39)	N150K	probably damaging	Het
Card6	A	T	15: 5,129,591 (GRCm39)	W602R	probably benign	Het
Clnk	A	T	5: 38,927,234 (GRCm39)	S82T	possibly damaging	Het
Cmah	T	C	13: 24,620,612 (GRCm39)	I282T	probably damaging	Het
Cog8	A	G	8: 107,779,131 (GRCm39)	I382T	probably benign	Het
Dhrs7c	G	T	11: 67,700,722 (GRCm39)		probably null	Het
Dhrs9	T	A	2: 69,223,502 (GRCm39)	D83E	probably damaging	Het
Dmac2l	A	T	12: 69,788,562 (GRCm39)	N154Y	probably benign	Het
Dmgdh	G	A	13: 93,852,043 (GRCm39)	G624E	probably damaging	Het
Dnajc30	C	A	5: 135,093,569 (GRCm39)	F155L	probably damaging	Het
Drc7	A	C	8: 95,800,778 (GRCm39)	K600T	probably damaging	Het
Efhb	A	C	17: 53,707,928 (GRCm39)	I745S	probably damaging	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Fasn	T	A	11: 120,701,291 (GRCm39)	K1988*	probably null	Het
Gad2	T	C	2: 22,525,035 (GRCm39)	L273P	probably damaging	Het
Gm45861	A	T	8: 28,032,536 (GRCm39)	K887*	probably null	Het
Gm45861	A	T	8: 28,032,537 (GRCm39)	K887I	unknown	Het
Gm9195	A	G	14: 72,718,221 (GRCm39)	Y152H	probably damaging	Het
Grip1	G	A	10: 119,781,061 (GRCm39)	D237N	probably damaging	Het
Hamp	A	C	7: 30,641,961 (GRCm39)	C65G	possibly damaging	Het
Hes3	A	G	4: 152,372,581 (GRCm39)		probably benign	Het
Hgh1	T	C	15: 76,254,650 (GRCm39)	I342T	probably damaging	Het
Hlcs	T	A	16: 94,069,023 (GRCm39)	K66*	probably null	Het
Ift80	A	T	3: 68,898,277 (GRCm39)	C19*	probably null	Het
Kdm4c	T	A	4: 74,263,804 (GRCm39)	V696E	probably benign	Het
Lect2	A	G	13: 56,690,803 (GRCm39)	I117T	unknown	Het
Lipn	T	A	19: 34,054,390 (GRCm39)	Y209*	probably null	Het
Lpin3	G	A	2: 160,740,627 (GRCm39)	V391I	probably benign	Het
Mocs2	A	T	13: 114,961,143 (GRCm39)	I47L	probably benign	Het
Mogs	T	A	6: 83,095,488 (GRCm39)	H768Q	probably benign	Het
Nbeal1	T	A	1: 60,276,317 (GRCm39)	I686N	probably damaging	Het
Nbeal1	T	A	1: 60,299,793 (GRCm39)	C1376*	probably null	Het
Ninl	A	G	2: 150,791,263 (GRCm39)	Y1087H	possibly damaging	Het
Or10a3	A	G	7: 108,480,475 (GRCm39)	F113L	probably benign	Het
Or10ak14	A	G	4: 118,611,615 (GRCm39)	V42A	possibly damaging	Het
Or4k5	A	G	14: 50,385,689 (GRCm39)	L214S	probably damaging	Het
Or51b6b	A	C	7: 103,309,788 (GRCm39)	L223R	probably damaging	Het
Or6s1	A	G	14: 51,308,616 (GRCm39)	V78A	possibly damaging	Het
Or8k30	T	A	2: 86,339,369 (GRCm39)	C189S	probably damaging	Het
Pkn1	A	G	8: 84,398,363 (GRCm39)	F768S	probably damaging	Het
Plekha2	A	G	8: 25,553,957 (GRCm39)	F82L	probably damaging	Het
Ppie	T	C	4: 123,028,900 (GRCm39)	E111G	probably benign	Het
Rps6ka5	T	C	12: 100,547,679 (GRCm39)	Y277C	probably damaging	Het
Scgb2b12	A	G	7: 32,026,102 (GRCm39)	V30A	probably benign	Het
Serac1	A	T	17: 6,124,476 (GRCm39)	S16T	probably benign	Het
Sf3a3	T	C	4: 124,616,693 (GRCm39)	Y192H	probably damaging	Het
Slc14a1	A	G	18: 78,145,626 (GRCm39)	V436A	probably benign	Het
Smc3	T	A	19: 53,630,329 (GRCm39)	M1112K	probably damaging	Het
Tnk2	G	A	16: 32,499,986 (GRCm39)	G1017E	probably damaging	Het
Tnn	T	A	1: 159,953,947 (GRCm39)	K603*	probably null	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Ttn	A	T	2: 76,614,724 (GRCm39)	V16964E	possibly damaging	Het
Usp17le	G	A	7: 104,417,696 (GRCm39)	T482I	probably benign	Het
Vmn1r219	T	A	13: 23,347,525 (GRCm39)	M238K	probably damaging	Het
Wfs1	C	T	5: 37,124,516 (GRCm39)	G792S	probably benign	Het
Xpa	A	T	4: 46,185,612 (GRCm39)	L122Q	probably damaging	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
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
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'- ATTCCTATGCAGTTGGAGGC -3'
(R):5'- TACCATGGAGTGCAAGACTAAG -3'

Sequencing Primer
(F):5'- GGCATCCATGTGGTCCATCATATAG -3'
(R):5'- GGGGAAACACCAGCATAGCTTG -3'

Posted On

2019-06-26