Mutagenetix > Incidental Mutation

Incidental Mutation 'R6272:Kbtbd11'

507399

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd11

Ensembl Gene

ENSMUSG00000055675

Gene Name

kelch repeat and BTB (POZ) domain containing 11

Synonyms

4930465M17Rik, 2900016B01Rik

MMRRC Submission

044442-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15061025-15083333 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 15079118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 572 (C572*)

Ref Sequence

ENSEMBL: ENSMUSP00000139292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069399] [ENSMUST00000183471]

AlphaFold

Q8BNW9

Predicted Effect

probably null
Transcript: ENSMUST00000069399
AA Change: C572*

SMART Domains

Protein: ENSMUSP00000068321
Gene: ENSMUSG00000055675
AA Change: C572*

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	88	114	N/A	INTRINSIC
BTB	146	237	1.74e-15	SMART
low complexity region	289	311	N/A	INTRINSIC
Blast:BTB	318	358	2e-16	BLAST
Kelch	366	418	5.26e-3	SMART
Kelch	419	463	4.65e-4	SMART
Kelch	464	506	1.71e-1	SMART
low complexity region	524	532	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000183471
AA Change: C572*

SMART Domains

Protein: ENSMUSP00000139292
Gene: ENSMUSG00000055675
AA Change: C572*

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	88	114	N/A	INTRINSIC
BTB	146	237	1.74e-15	SMART
low complexity region	289	311	N/A	INTRINSIC
Blast:BTB	318	358	2e-16	BLAST
Kelch	366	418	5.26e-3	SMART
Kelch	419	463	4.65e-4	SMART
Kelch	464	506	1.71e-1	SMART
low complexity region	524	532	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192473

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Adgrg3	A	G	8: 95,762,889 (GRCm39)	I189V	noncoding transcript	Het
Ampd1	A	G	3: 102,992,699 (GRCm39)	K147R	possibly damaging	Het
Apbb2	T	C	5: 66,468,415 (GRCm39)	T561A	probably damaging	Het
Arfgef3	A	T	10: 18,522,711 (GRCm39)	D438E	probably benign	Het
Atxn1	T	A	13: 45,721,238 (GRCm39)	Q219L	possibly damaging	Het
AW551984	A	T	9: 39,509,333 (GRCm39)	D269E	probably benign	Het
Cryab	A	G	9: 50,665,825 (GRCm39)	K72R	possibly damaging	Het
Dbn1	G	A	13: 55,622,917 (GRCm39)	A522V	probably benign	Het
Dip2a	A	T	10: 76,122,241 (GRCm39)	*158R	probably null	Het
Edrf1	C	T	7: 133,239,537 (GRCm39)		probably benign	Het
Ern2	A	T	7: 121,775,869 (GRCm39)	D408E	probably benign	Het
F830016B08Rik	T	C	18: 60,433,150 (GRCm39)	S78P	probably damaging	Het
Fah	C	A	7: 84,244,753 (GRCm39)	G137C	probably damaging	Het
Foxd3	A	G	4: 99,544,977 (GRCm39)	D39G	probably damaging	Het
Gprin3	G	A	6: 59,330,316 (GRCm39)	Q664*	probably null	Het
H2-Ob	T	C	17: 34,461,618 (GRCm39)	I119T	probably benign	Het
H3c6	A	T	13: 23,746,400 (GRCm39)	V47E	probably damaging	Het
Hmgcll1	G	A	9: 76,037,627 (GRCm39)	G174R	probably damaging	Het
Kynu	A	T	2: 43,525,001 (GRCm39)	N315Y	probably benign	Het
Map1lc3b	G	A	8: 122,323,429 (GRCm39)	E100K	probably benign	Het
Matn2	T	A	15: 34,355,753 (GRCm39)	Q33L	possibly damaging	Het
Mettl8	T	C	2: 70,806,419 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,512,940 (GRCm39)	N312Y	probably damaging	Het
Nhsl1	A	G	10: 18,400,253 (GRCm39)	D493G	probably benign	Het
Nup210l	A	G	3: 90,077,331 (GRCm39)	E889G	possibly damaging	Het
Or13l2	A	G	3: 97,318,207 (GRCm39)	F97L	probably benign	Het
Or14c42-ps1	A	G	7: 86,211,081 (GRCm39)	Y47C	unknown	Het
Or2y13	C	A	11: 49,414,953 (GRCm39)	S134R	possibly damaging	Het
Or5ac25	A	C	16: 59,181,948 (GRCm39)	M211R	possibly damaging	Het
Or5w20	G	A	2: 87,727,001 (GRCm39)	V153I	probably benign	Het
Or6k2	C	T	1: 173,986,741 (GRCm39)	T134I	probably benign	Het
Or8g4	A	T	9: 39,661,816 (GRCm39)	M45L	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phc2	A	G	4: 128,603,440 (GRCm39)	Y190C	probably damaging	Het
Platr25	T	C	13: 62,820,811 (GRCm39)	T347A	possibly damaging	Het
Plec	T	C	15: 76,059,053 (GRCm39)	E3655G	probably damaging	Het
Plekhg3	A	T	12: 76,623,619 (GRCm39)	Q954L	probably benign	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Prdm4	G	A	10: 85,743,694 (GRCm39)	T187I	possibly damaging	Het
Prg4	T	C	1: 150,330,517 (GRCm39)		probably benign	Het
Prpf18	G	A	2: 4,638,258 (GRCm39)	R312W	probably damaging	Het
Rnf213	T	A	11: 119,305,374 (GRCm39)	V535D	probably damaging	Het
Rtcb	A	T	10: 85,791,638 (GRCm39)	N39K	probably damaging	Het
Slc4a3	G	A	1: 75,531,341 (GRCm39)		probably null	Het
Szt2	A	C	4: 118,231,487 (GRCm39)		probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tfap2e	A	T	4: 126,615,657 (GRCm39)	V259D	probably damaging	Het
Trav19	A	G	14: 54,083,255 (GRCm39)	D110G	probably damaging	Het
Ttc17	A	C	2: 94,189,100 (GRCm39)	C749W	probably damaging	Het
Ttc8	A	G	12: 98,948,753 (GRCm39)	K490E	possibly damaging	Het
Ube4b	A	G	4: 149,471,590 (GRCm39)	S99P	probably damaging	Het
Ubqln3	C	T	7: 103,791,385 (GRCm39)	R235H	probably damaging	Het
Vmn2r61	A	T	7: 41,949,242 (GRCm39)	D554V	probably damaging	Het
Vmn2r70	A	T	7: 85,208,194 (GRCm39)	V761E	probably damaging	Het
Vmn2r97	T	C	17: 19,167,861 (GRCm39)	I705T	possibly damaging	Het
Wwox	G	A	8: 115,215,692 (GRCm39)	C155Y	probably damaging	Het
Zfp451	T	C	1: 33,842,325 (GRCm39)		probably benign	Het
Zfp582	C	T	7: 6,356,844 (GRCm39)	P219L	probably damaging	Het

Other mutations in Kbtbd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Kbtbd11	APN	8	15,079,176 (GRCm39)	missense	probably damaging	1.00
IGL02160:Kbtbd11	APN	8	15,078,801 (GRCm39)	missense	probably damaging	1.00
IGL02538:Kbtbd11	APN	8	15,078,841 (GRCm39)	missense	probably damaging	1.00
IGL03039:Kbtbd11	APN	8	15,077,467 (GRCm39)	missense	probably benign	0.00
R0152:Kbtbd11	UTSW	8	15,077,428 (GRCm39)	missense	probably damaging	0.96
R0242:Kbtbd11	UTSW	8	15,077,508 (GRCm39)	missense	probably benign
R0242:Kbtbd11	UTSW	8	15,077,508 (GRCm39)	missense	probably benign
R0453:Kbtbd11	UTSW	8	15,077,499 (GRCm39)	missense	probably benign	0.01
R0498:Kbtbd11	UTSW	8	15,077,605 (GRCm39)	missense	probably benign
R0629:Kbtbd11	UTSW	8	15,077,572 (GRCm39)	missense	probably benign
R2031:Kbtbd11	UTSW	8	15,078,021 (GRCm39)	missense	possibly damaging	0.87
R2214:Kbtbd11	UTSW	8	15,079,178 (GRCm39)	missense	possibly damaging	0.85
R3720:Kbtbd11	UTSW	8	15,079,118 (GRCm39)	nonsense	probably null
R3722:Kbtbd11	UTSW	8	15,079,118 (GRCm39)	nonsense	probably null
R4355:Kbtbd11	UTSW	8	15,078,578 (GRCm39)	missense	probably damaging	1.00
R4658:Kbtbd11	UTSW	8	15,078,917 (GRCm39)	missense	possibly damaging	0.59
R5037:Kbtbd11	UTSW	8	15,077,886 (GRCm39)	missense	probably benign	0.25
R5312:Kbtbd11	UTSW	8	15,078,589 (GRCm39)	missense	possibly damaging	0.92
R5936:Kbtbd11	UTSW	8	15,077,534 (GRCm39)	missense	probably benign	0.00
R6056:Kbtbd11	UTSW	8	15,077,577 (GRCm39)	missense	probably benign
R6547:Kbtbd11	UTSW	8	15,077,641 (GRCm39)	missense	possibly damaging	0.83
R7126:Kbtbd11	UTSW	8	15,078,759 (GRCm39)	missense	probably damaging	1.00
R7359:Kbtbd11	UTSW	8	15,078,858 (GRCm39)	missense	probably damaging	1.00
R8350:Kbtbd11	UTSW	8	15,078,603 (GRCm39)	missense	probably damaging	1.00
R8450:Kbtbd11	UTSW	8	15,078,603 (GRCm39)	missense	probably damaging	1.00
Z1088:Kbtbd11	UTSW	8	15,077,839 (GRCm39)	missense	probably damaging	1.00
Z1177:Kbtbd11	UTSW	8	15,077,694 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TCTACCGCCTGCTCAAGTAC -3'
(R):5'- GATCCTGTCCTAGACTGCAC -3'

Sequencing Primer
(F):5'- GCCTGCTCAAGTACGACCC -3'
(R):5'- GTCCTAGACTGCACCCTGC -3'

Posted On

2018-03-15