Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:Kbtbd12'

640999

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88545114-88637950 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88618150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 233 (R233G)

Ref Sequence

ENSEMBL: ENSMUSP00000112581 (fasta)

Gene Model

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

AlphaFold

Q9D618

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120933
AA Change: R233G

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: R233G

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: 98.9%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,971,395	E243K	possibly damaging	Het
Accsl	A	T	2: 93,866,078	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744	F90L	probably benign	Het
Adam5	G	A	8: 24,810,703	A270V	possibly damaging	Het
Angptl3	A	G	4: 99,031,311	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,647,166	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,241,155	M1K	probably null	Het
Arih1	T	A	9: 59,396,487	Q445L	probably benign	Het
Asb14	A	T	14: 26,912,097	I420L	probably benign	Het
Bbs2	A	C	8: 94,074,325	V626G	probably damaging	Het
BC089597	T	A	10: 127,876,995	D287E	probably damaging	Het
Cep290	C	A	10: 100,544,934	A1678D	probably benign	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,759,166		probably benign	Het
Clca3b	T	A	3: 144,825,937	N702I	probably damaging	Het
Col24a1	T	C	3: 145,474,182	V1143A	probably benign	Het
Cux1	T	C	5: 136,360,009	T223A	probably benign	Het
Defa30	A	T	8: 21,135,459	T80S	probably benign	Het
Dennd1a	G	A	2: 37,858,081	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,623,787	T675I	probably damaging	Het
Emc9	A	G	14: 55,585,099	V4A	probably damaging	Het
Enpp3	C	G	10: 24,824,929		probably null	Het
Fam117b	A	G	1: 59,913,623	T154A	probably benign	Het
Filip1	G	T	9: 79,820,475	Y287*	probably null	Het
Flt3	T	C	5: 147,348,054	D751G	probably damaging	Het
Frem1	T	A	4: 82,999,989	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441		probably benign	Het
Gm7356	T	A	17: 14,001,437	Y110F	probably benign	Het
Igf2r	T	C	17: 12,733,860	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,840,222	E103D	probably benign	Het
Igsf11	C	A	16: 39,007,224	T48N	probably damaging	Het
Itpkc	A	T	7: 27,214,519	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,709,478	M357R	possibly damaging	Het
Kcnd2	T	A	6: 21,726,198	C563*	probably null	Het
Kcnu1	T	C	8: 25,891,990	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825	V45A	probably damaging	Het
Macf1	A	T	4: 123,395,621		probably benign	Het
Map3k19	T	A	1: 127,817,270	E1177D		Het
Mdn1	G	T	4: 32,725,107	L2575F	probably benign	Het
Mga	T	A	2: 119,946,319	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,450,779	Y161H	probably damaging	Het
Olfr119	T	A	17: 37,701,498	M276K	probably benign	Het
Olfr134	C	A	17: 38,175,573	T163K	probably damaging	Het
Olfr301	G	T	7: 86,412,779	C139F	probably damaging	Het
Pcdhb14	T	A	18: 37,450,022	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,910,409	V167G	probably damaging	Het
Plin5	T	C	17: 56,115,221	D146G	probably benign	Het
Plxna4	C	T	6: 32,211,065	G879R	possibly damaging	Het
Prss58	C	T	6: 40,895,660	A171T	probably benign	Het
Pum1	A	G	4: 130,771,920	I1016V	probably benign	Het
Rbm43	A	G	2: 51,926,700	V85A	probably damaging	Het
RP23-56A14.9	A	G	7: 142,135,623	C138R	unknown	Het
Rptor	T	A	11: 119,811,986	L393Q	probably damaging	Het
Sbf2	T	G	7: 110,371,618	H857P	possibly damaging	Het
Scn8a	A	C	15: 101,040,506	T1919P	probably benign	Het
Sema6b	C	T	17: 56,127,084	G377E	probably damaging	Het
Senp7	T	A	16: 56,155,240	D436E	probably damaging	Het
Slc6a17	T	A	3: 107,473,585	I535F	probably benign	Het
Sptbn2	T	A	19: 4,729,130	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,254,931	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,226,436	V201A	possibly damaging	Het
Timm10b	T	C	7: 105,640,669		probably benign	Het
Ttc23	A	C	7: 67,662,387	D14A	probably damaging	Het
Usp32	A	T	11: 85,032,185	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,890,652	H79Q	probably damaging	Het
Vps13d	A	G	4: 145,092,288	I3047T		Het
Zan	T	C	5: 137,450,551	E1680G	unknown	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
R7650:Kbtbd12	UTSW	6	88618548	missense	probably damaging	1.00
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
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'- ATAGGTCTTGTGTGACACAGGG -3'
(R):5'- CAGCTTCTGGCACTTATTAAGTCTG -3'

Sequencing Primer
(F):5'- GGGTCATAACAAAAACTGGCATC -3'
(R):5'- CTGGCACTTATTAAGTCTGATGATC -3'

Posted On

2020-07-28