Mutagenetix > Incidental Mutation

Incidental Mutation 'R9438:Kbtbd12'

713364

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 #

R9438 (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 88591040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 391 (Q391*)

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: Q391*

SMART Domains

Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: Q391*

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	G	A	2: 91,033,339 (GRCm39)	M20I	probably benign	Het
Adgra1	C	T	7: 139,432,525 (GRCm39)	P121L	probably benign	Het
Arhgap39	C	A	15: 76,636,118 (GRCm39)	R39L	probably damaging	Het
Atp1b3	A	T	9: 96,215,631 (GRCm39)	N261K	possibly damaging	Het
Atp8b3	C	T	10: 80,361,409 (GRCm39)	A838T	probably damaging	Het
Cacng8	G	A	7: 3,463,919 (GRCm39)	S357N	unknown	Het
Calhm5	T	C	10: 33,972,049 (GRCm39)	M129V	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cdk19	T	A	10: 40,352,176 (GRCm39)	D319E	probably damaging	Het
Chd6	A	G	2: 160,799,078 (GRCm39)	S2336P	probably benign	Het
Cntn1	G	A	15: 92,144,024 (GRCm39)		probably null	Het
Cts6	G	A	13: 61,350,069 (GRCm39)	T4I	probably benign	Het
Ddt	A	T	10: 75,607,332 (GRCm39)	I98N	probably damaging	Het
Diaph1	A	C	18: 38,026,443 (GRCm39)	V465G	unknown	Het
Dnah2	G	T	11: 69,364,220 (GRCm39)	D2064E	probably damaging	Het
Dnmt1	T	C	9: 20,827,190 (GRCm39)	N969D	probably benign	Het
Dot1l	T	A	10: 80,627,120 (GRCm39)	V1447E	probably benign	Het
Efs	T	A	14: 55,156,868 (GRCm39)	D389V		Het
Gbp11	T	A	5: 105,474,471 (GRCm39)	K402*	probably null	Het
Grm7	A	T	6: 111,231,077 (GRCm39)	D500V	possibly damaging	Het
Hecw1	T	C	13: 14,481,414 (GRCm39)	M439V	probably benign	Het
Ice1	A	G	13: 70,754,434 (GRCm39)	S551P	probably benign	Het
Igsf9b	T	C	9: 27,243,839 (GRCm39)	S779P	probably benign	Het
Itpr2	T	C	6: 146,068,166 (GRCm39)	N2437S	probably benign	Het
Kcnma1	T	C	14: 23,417,653 (GRCm39)	I859V	probably benign	Het
Klri1	A	C	6: 129,675,879 (GRCm39)	D130E	probably benign	Het
Krt9	A	G	11: 100,079,824 (GRCm39)	Y523H	unknown	Het
Ldhc	G	T	7: 46,515,857 (GRCm39)	V51F	possibly damaging	Het
Macf1	G	T	4: 123,279,366 (GRCm39)	D5890E	probably benign	Het
Map4k4	A	G	1: 40,045,952 (GRCm39)	S613G	probably damaging	Het
Mrpl55	A	G	11: 59,096,581 (GRCm39)	D118G	probably damaging	Het
Muc16	T	C	9: 18,559,028 (GRCm39)	T2422A	unknown	Het
Nfkbib	T	A	7: 28,459,654 (GRCm39)	D219V	probably damaging	Het
Nsd2	A	G	5: 34,000,632 (GRCm39)	K50E	probably damaging	Het
Nudcd1	C	T	15: 44,269,321 (GRCm39)	R113H	probably benign	Het
Or5p55	A	T	7: 107,567,000 (GRCm39)	Y132F	probably damaging	Het
Or7e170	C	T	9: 19,795,083 (GRCm39)	E173K	probably benign	Het
Or7g19	T	A	9: 18,856,326 (GRCm39)	C127*	probably null	Het
Papln	A	T	12: 83,818,606 (GRCm39)	T63S	probably benign	Het
Pax4	T	C	6: 28,446,185 (GRCm39)	I103V	possibly damaging	Het
Pitpnm2	G	A	5: 124,269,342 (GRCm39)	H427Y	probably damaging	Het
Plk5	T	A	10: 80,193,867 (GRCm39)	V52E	probably damaging	Het
Prr23a4	G	A	9: 98,785,833 (GRCm39)	S166N	probably benign	Het
Rab44	A	G	17: 29,364,226 (GRCm39)	H600R	unknown	Het
Rbbp6	G	A	7: 122,599,456 (GRCm39)	V1256I		Het
Rexo1	T	A	10: 80,378,848 (GRCm39)	T1063S	possibly damaging	Het
Rp1l1	A	G	14: 64,265,574 (GRCm39)	R387G	possibly damaging	Het
Rufy3	T	C	5: 88,796,124 (GRCm39)	S603P	probably benign	Het
Setd1b	A	G	5: 123,285,944 (GRCm39)	H330R	unknown	Het
Strc	A	T	2: 121,198,647 (GRCm39)	W1415R	probably damaging	Het
Tcstv5	A	G	13: 120,411,363 (GRCm39)	L81P	probably benign	Het
Terf2	C	A	8: 107,803,504 (GRCm39)	A359S	probably benign	Het
Tmod1	A	G	4: 46,093,958 (GRCm39)	N223S	probably damaging	Het
Tram2	T	A	1: 21,075,834 (GRCm39)	I195F	possibly damaging	Het
Trap1	T	C	16: 3,883,131 (GRCm39)	Q148R	probably benign	Het
Tsks	C	T	7: 44,607,095 (GRCm39)	R143*	probably null	Het
Ttc14	T	A	3: 33,858,861 (GRCm39)	H373Q	probably damaging	Het
Ttn	T	C	2: 76,747,748 (GRCm39)	K4434E	probably benign	Het
Usp7	T	C	16: 8,522,833 (GRCm39)	D347G	probably benign	Het
Vps13d	T	C	4: 144,858,314 (GRCm39)	E2170G		Het
Xrn1	T	C	9: 95,893,287 (GRCm39)	I1001T	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
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'- GCAAGGAATTTCTTAACCTGAGGG -3'
(R):5'- TAGAAGAGCTGGGTCACATTG -3'

Sequencing Primer
(F):5'- GGTCCAGCCTCCGATGACATAC -3'
(R):5'- AGAAGAGCTGGGTCACATTGTTTTC -3'

Posted On

2022-05-16