Mutagenetix > Incidental Mutation

Incidental Mutation 'R8350:Kbtbd11'

645474

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

067868-MU

Accession Numbers

Essential gene?

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

Stock #

R8350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15061025-15083333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 15078603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 401 (V401M)

Ref Sequence

ENSEMBL: ENSMUSP00000068321 (fasta)

Gene Model

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

AlphaFold

Q8BNW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000069399
AA Change: V401M

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

SMART Domains

Protein: ENSMUSP00000068321
Gene: ENSMUSG00000055675
AA Change: V401M

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 damaging
Transcript: ENSMUST00000183471
AA Change: V401M

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

SMART Domains

Protein: ENSMUSP00000139292
Gene: ENSMUSG00000055675
AA Change: V401M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Akirin2	T	A	4: 34,551,082 (GRCm39)	F13Y	probably damaging	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Armc12	T	A	17: 28,751,031 (GRCm39)	D82E	probably damaging	Het
Atg2a	T	C	19: 6,296,841 (GRCm39)	S382P	probably benign	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Cep170	A	G	1: 176,564,445 (GRCm39)	L271S		Het
Cers3	T	C	7: 66,414,090 (GRCm39)	F92S	possibly damaging	Het
Chmp4c	A	T	3: 10,450,746 (GRCm39)	M109L	possibly damaging	Het
Cnmd	T	A	14: 79,882,821 (GRCm39)	K202*	probably null	Het
Cnp	T	C	11: 100,467,267 (GRCm39)	I70T	probably damaging	Het
Col27a1	C	A	4: 63,248,134 (GRCm39)	T1721K	unknown	Het
Crtac1	G	A	19: 42,297,625 (GRCm39)	R242W	probably damaging	Het
Cry2	T	C	2: 92,244,286 (GRCm39)	R296G	probably benign	Het
Cyp2t4	A	G	7: 26,856,806 (GRCm39)	D282G	possibly damaging	Het
Dip2a	G	T	10: 76,100,690 (GRCm39)	T1495N	probably damaging	Het
Dmbt1	T	C	7: 130,687,147 (GRCm39)		probably null	Het
Dmp1	A	T	5: 104,360,765 (GRCm39)	K480N	probably damaging	Het
Dnah17	A	G	11: 117,977,873 (GRCm39)	S1820P	probably damaging	Het
Dnah6	A	G	6: 73,172,798 (GRCm39)	V220A	probably benign	Het
Eif4a3l1	C	T	6: 136,306,241 (GRCm39)	T234I	possibly damaging	Het
Epha3	T	C	16: 63,472,853 (GRCm39)	D344G	possibly damaging	Het
Esyt2	C	A	12: 116,327,102 (GRCm39)	Q557K	probably damaging	Het
Fam72a	A	T	1: 131,461,663 (GRCm39)	D116V	probably damaging	Het
Fam81a	T	C	9: 70,032,300 (GRCm39)	N64S	probably damaging	Het
Fat3	T	A	9: 15,826,435 (GRCm39)	T358S		Het
Frat2	A	T	19: 41,836,223 (GRCm39)	I43N	probably damaging	Het
Fryl	A	T	5: 73,226,073 (GRCm39)	D1863E	probably benign	Het
Gm43302	A	T	5: 105,422,573 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,363,273 (GRCm39)	Y422C	probably damaging	Het
Hap1	T	G	11: 100,240,107 (GRCm39)	D563A	probably damaging	Het
Hbb-bs	T	C	7: 103,475,951 (GRCm39)	D122G	probably benign	Het
Hs3st3b1	G	C	11: 63,780,390 (GRCm39)	P246A	probably benign	Het
Hsd17b4	T	G	18: 50,297,734 (GRCm39)	L341R	probably benign	Het
Lss	T	A	10: 76,371,429 (GRCm39)	L120Q	probably damaging	Het
Mdc1	T	G	17: 36,159,191 (GRCm39)	S524A	probably benign	Het
Myoz3	T	C	18: 60,712,074 (GRCm39)	Y168C	probably damaging	Het
Nceh1	C	A	3: 27,293,813 (GRCm39)	D190E	probably damaging	Het
Neb	T	C	2: 52,096,194 (GRCm39)	R5039G	probably benign	Het
Nup50	T	A	15: 84,819,476 (GRCm39)	V250E	probably benign	Het
Pcnx3	T	A	19: 5,723,254 (GRCm39)	N1314Y	probably damaging	Het
Pdzk1	A	G	3: 96,759,024 (GRCm39)	N143S	probably benign	Het
Rnf223	T	G	4: 156,217,120 (GRCm39)	L165R	probably damaging	Het
Sbf1	A	T	15: 89,183,712 (GRCm39)	F1267Y	probably damaging	Het
Scrn3	T	G	2: 73,160,113 (GRCm39)	I252R	possibly damaging	Het
Sdr39u1	T	C	14: 56,135,363 (GRCm39)	I193M	probably damaging	Het
Sh2d7	A	G	9: 54,448,191 (GRCm39)	R71G	probably benign	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Syk	T	C	13: 52,774,935 (GRCm39)	L225P	probably damaging	Het
Tbx1	A	T	16: 18,400,795 (GRCm39)	V463E	unknown	Het
Tmem67	C	T	4: 12,087,891 (GRCm39)	R19H	probably benign	Het
Ttn	T	A	2: 76,609,108 (GRCm39)	I17666F	possibly damaging	Het
Vcpip1	A	G	1: 9,794,831 (GRCm39)	V1180A	probably benign	Het
Wdr27	T	C	17: 15,152,787 (GRCm39)	T107A	probably benign	Het
Zfp106	T	C	2: 120,366,099 (GRCm39)	R58G		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
R6272:Kbtbd11	UTSW	8	15,079,118 (GRCm39)	nonsense	probably null
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
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'- GTTTATTGCTACCAGGCGGAGG -3'
(R):5'- AAATCTCTCCGTTACAGGTGGC -3'

Sequencing Primer
(F):5'- GCGTGCTCTTCAACTACC -3'
(R):5'- TTACAGGTGGCAGCCTCGTG -3'

Posted On

2020-09-02