Mutagenetix > Incidental Mutation

Incidental Mutation 'R2214:Kbtbd11'

241022

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

040216-MU

Accession Numbers

Essential gene?

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

Stock #

R2214 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15061025-15083333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15079178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 592 (D592E)

Ref Sequence

ENSEMBL: ENSMUSP00000139292 (fasta)

Gene Model

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

AlphaFold

Q8BNW9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069399
AA Change: D592E

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068321
Gene: ENSMUSG00000055675
AA Change: D592E

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

possibly damaging
Transcript: ENSMUST00000183471
AA Change: D592E

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139292
Gene: ENSMUSG00000055675
AA Change: D592E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,926,946 (GRCm39)	Y516C	probably benign	Het
Adam22	C	T	5: 8,186,805 (GRCm39)		probably null	Het
Akap8l	T	C	17: 32,557,799 (GRCm39)		probably null	Het
Casr	T	C	16: 36,336,120 (GRCm39)	Y63C	probably damaging	Het
Ccdc178	T	C	18: 22,048,047 (GRCm39)	D781G	possibly damaging	Het
Col9a1	C	A	1: 24,247,283 (GRCm39)	P168Q	probably damaging	Het
Dnm2	T	C	9: 21,397,019 (GRCm39)		probably null	Het
Dst	C	T	1: 34,310,482 (GRCm39)	T6325M	probably damaging	Het
Ercc4	C	A	16: 12,927,888 (GRCm39)	D19E	probably damaging	Het
Gm1110	C	A	9: 26,813,786 (GRCm39)	V198L	probably benign	Het
Gm8674	T	A	13: 50,055,396 (GRCm39)		noncoding transcript	Het
Grm7	A	T	6: 111,335,958 (GRCm39)	I790F	probably damaging	Het
Habp2	A	G	19: 56,306,249 (GRCm39)	D445G	possibly damaging	Het
Kat7	G	A	11: 95,166,631 (GRCm39)	T517I	probably damaging	Het
Lgals8	T	A	13: 12,469,713 (GRCm39)	Q82L	probably benign	Het
Lmtk3	A	G	7: 45,444,277 (GRCm39)		probably benign	Het
Map2	A	T	1: 66,459,345 (GRCm39)	D1530V	probably damaging	Het
Map2k6	G	A	11: 110,387,167 (GRCm39)	V180I	probably damaging	Het
Map3k5	T	A	10: 19,902,035 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,623,327 (GRCm39)	E2059G	probably benign	Het
Myh10	A	G	11: 68,673,953 (GRCm39)	D660G	probably damaging	Het
Myo16	T	A	8: 10,488,803 (GRCm39)	V658E	probably damaging	Het
Nckap5	A	T	1: 125,953,487 (GRCm39)	S1090T	possibly damaging	Het
Nhlrc3	T	C	3: 53,363,875 (GRCm39)	H217R	probably damaging	Het
Ntrk3	T	A	7: 78,166,520 (GRCm39)	I118F	probably damaging	Het
Or14a259	T	A	7: 86,013,414 (GRCm39)	I44F	probably benign	Het
Or1e29	A	T	11: 73,667,655 (GRCm39)	L166*	probably null	Het
Or4p20	C	T	2: 88,253,461 (GRCm39)	V303M	probably benign	Het
Paxip1	T	C	5: 27,947,499 (GRCm39)	Y1053C	probably damaging	Het
Pfkfb4	T	A	9: 108,834,677 (GRCm39)	F117I	probably benign	Het
Pp2d1	T	C	17: 53,822,424 (GRCm39)	Y214C	probably benign	Het
Prr7	C	A	13: 55,620,613 (GRCm39)	S207*	probably null	Het
Ptprh	T	A	7: 4,555,921 (GRCm39)	Q715L	possibly damaging	Het
Rasgrp1	A	T	2: 117,115,646 (GRCm39)	D647E	probably damaging	Het
Rnf20	T	A	4: 49,648,344 (GRCm39)	M384K	possibly damaging	Het
Rps6kb1	A	T	11: 86,424,896 (GRCm39)	C37S	possibly damaging	Het
Serpinb9f	C	A	13: 33,518,592 (GRCm39)	T364K	probably benign	Het
Sorbs1	C	T	19: 40,285,075 (GRCm39)	A641T	probably damaging	Het
Srrm2	T	C	17: 24,035,719 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,299,528 (GRCm39)	S849L	possibly damaging	Het
Syt15	A	T	14: 33,944,989 (GRCm39)	S179C	probably damaging	Het
Tapbp	T	C	17: 34,139,300 (GRCm39)	F90L	possibly damaging	Het
Timm23	A	T	14: 31,920,944 (GRCm39)	D49E	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem174	A	C	13: 98,773,757 (GRCm39)	S24R	possibly damaging	Het
Tmem63a	A	G	1: 180,788,679 (GRCm39)	S339G	probably benign	Het
Tsc22d2	A	G	3: 58,323,627 (GRCm39)	Y173C	probably damaging	Het
Ubap2	A	G	4: 41,199,714 (GRCm39)		probably null	Het
Upp1	T	A	11: 9,086,033 (GRCm39)	V290E	probably benign	Het
Uqcc4	T	C	17: 25,403,699 (GRCm39)	V13A	probably benign	Het
Usp17lb	A	T	7: 104,490,639 (GRCm39)	M96K	probably benign	Het
Wdr20rt	A	G	12: 65,274,187 (GRCm39)	E449G	probably damaging	Het
Zkscan8	A	T	13: 21,705,082 (GRCm39)	S286T	probably benign	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
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
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'- ATTGCCTGGCCAAGCAATG -3'
(R):5'- CATGATGCACTATGGCCAGC -3'

Sequencing Primer
(F):5'- CAATGGAGCCAATGTGCTGTAC -3'
(R):5'- AGCAGCCTGGCCTTTCTG -3'

Posted On

2014-10-15