Mutagenetix > Incidental Mutation

Incidental Mutation 'R5312:Kbtbd11'

478274

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

042895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5312 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15011025-15033333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15028589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 396 (D396G)

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: D396G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068321
Gene: ENSMUSG00000055675
AA Change: D396G

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: D396G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139292
Gene: ENSMUSG00000055675
AA Change: D396G

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

0.1074

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,813,576	I629T	probably damaging	Het
Abca15	T	C	7: 120,345,369	V409A	probably damaging	Het
Abtb1	A	G	6: 88,838,258	F297L	probably damaging	Het
Adam22	C	A	5: 8,090,182	G202W	probably damaging	Het
Adgrg3	G	A	8: 95,039,864	V388I	probably benign	Het
Adnp	T	C	2: 168,184,188	T396A	probably benign	Het
Ank2	T	C	3: 126,959,768	Q288R	probably damaging	Het
Bdp1	T	C	13: 100,097,601		probably null	Het
Ccdc173	T	C	2: 69,787,258	T60A	possibly damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cntnap5c	A	T	17: 58,359,254	E1093V	probably benign	Het
Dmrta1	A	C	4: 89,692,047	N415H	probably damaging	Het
Dnaaf5	T	A	5: 139,152,862	V266E	probably damaging	Het
Dot1l	A	G	10: 80,784,637	Q511R	possibly damaging	Het
Ehmt1	A	G	2: 24,884,195	V201A	probably damaging	Het
Fancg	A	G	4: 43,003,019	F613L	probably benign	Het
Fbxo10	A	T	4: 45,042,036	I731N	possibly damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gm5155	T	G	7: 17,909,142	H492Q	probably damaging	Het
Gm6614	A	T	6: 141,972,332	F606Y	probably benign	Het
Ighv1-74	A	G	12: 115,802,881	S39P	probably damaging	Het
Klc1	A	G	12: 111,795,621	K575R	possibly damaging	Het
Lman1l	A	T	9: 57,611,077	L343Q	probably damaging	Het
Mki67	A	T	7: 135,700,830	V825E	probably damaging	Het
Mus81	T	C	19: 5,483,494	K489R	possibly damaging	Het
Myog	A	G	1: 134,290,326	K91E	probably damaging	Het
Nfil3	A	T	13: 52,967,620	V416E	probably damaging	Het
Nup160	G	T	2: 90,732,832	E1314*	probably null	Het
Nwd2	C	T	5: 63,806,072	Q1000*	probably null	Het
Olfr1277	T	G	2: 111,270,310	D19A	probably benign	Het
Olfr1284	T	C	2: 111,379,834	V278A	possibly damaging	Het
Olfr790	T	A	10: 129,501,514	V210E	probably damaging	Het
Olfr792	A	C	10: 129,541,265	M243L	probably benign	Het
Ppp4r4	T	A	12: 103,606,888		probably null	Het
Pramef25	A	T	4: 143,949,095	I387N	possibly damaging	Het
Psg27	C	A	7: 18,557,033	R415L	probably benign	Het
Ptprr	T	A	10: 116,188,419	S212T	probably benign	Het
Ramp3	T	C	11: 6,674,888	F61L	probably damaging	Het
Rap1gds1	A	G	3: 138,958,628	L322P	probably damaging	Het
Rnf5	A	G	17: 34,601,588	F175S	probably benign	Het
Sema4a	G	A	3: 88,437,036	S636F	probably damaging	Het
Sfrp2	A	G	3: 83,769,401	D193G	probably damaging	Het
Slc26a5	T	C	5: 21,847,260	S24G	probably damaging	Het
Spg21	A	G	9: 65,468,802	I31V	probably benign	Het
Tmem45a2	T	C	16: 57,039,007	D287G	possibly damaging	Het
Utrn	A	T	10: 12,727,769	D627E	probably damaging	Het
Vmn2r103	A	T	17: 19,793,034	N139I	probably benign	Het
Washc5	A	T	15: 59,345,528		probably null	Het
Zfp667	T	C	7: 6,305,467	I378T	probably benign	Het
Zfp949	A	C	9: 88,567,183	T14P	possibly damaging	Het

Other mutations in Kbtbd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Kbtbd11	APN	8	15029176	missense	probably damaging	1.00
IGL02160:Kbtbd11	APN	8	15028801	missense	probably damaging	1.00
IGL02538:Kbtbd11	APN	8	15028841	missense	probably damaging	1.00
IGL03039:Kbtbd11	APN	8	15027467	missense	probably benign	0.00
R0152:Kbtbd11	UTSW	8	15027428	missense	probably damaging	0.96
R0242:Kbtbd11	UTSW	8	15027508	missense	probably benign
R0242:Kbtbd11	UTSW	8	15027508	missense	probably benign
R0453:Kbtbd11	UTSW	8	15027499	missense	probably benign	0.01
R0498:Kbtbd11	UTSW	8	15027605	missense	probably benign
R0629:Kbtbd11	UTSW	8	15027572	missense	probably benign
R2031:Kbtbd11	UTSW	8	15028021	missense	possibly damaging	0.87
R2214:Kbtbd11	UTSW	8	15029178	missense	possibly damaging	0.85
R3720:Kbtbd11	UTSW	8	15029118	nonsense	probably null
R3722:Kbtbd11	UTSW	8	15029118	nonsense	probably null
R4355:Kbtbd11	UTSW	8	15028578	missense	probably damaging	1.00
R4658:Kbtbd11	UTSW	8	15028917	missense	possibly damaging	0.59
R5037:Kbtbd11	UTSW	8	15027886	missense	probably benign	0.25
R5936:Kbtbd11	UTSW	8	15027534	missense	probably benign	0.00
R6056:Kbtbd11	UTSW	8	15027577	missense	probably benign
R6272:Kbtbd11	UTSW	8	15029118	nonsense	probably null
R6547:Kbtbd11	UTSW	8	15027641	missense	possibly damaging	0.83
R7126:Kbtbd11	UTSW	8	15028759	missense	probably damaging	1.00
R7359:Kbtbd11	UTSW	8	15028858	missense	probably damaging	1.00
R8350:Kbtbd11	UTSW	8	15028603	missense	probably damaging	1.00
R8450:Kbtbd11	UTSW	8	15028603	missense	probably damaging	1.00
Z1088:Kbtbd11	UTSW	8	15027839	missense	probably damaging	1.00
Z1177:Kbtbd11	UTSW	8	15027694	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CGTTTATTGCTACCAGGCGGAG -3'
(R):5'- AATCTCTCCGTTACAGGTGGC -3'

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

Posted On

2017-06-09