Mutagenetix > Incidental Mutation

Incidental Mutation 'R3720:Kbtbd11'

258857

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

040711-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3720 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15011025-15033333 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 15029118 bp (GRCm38)

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: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

93% (40/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl1	G	A	14: 26,927,844	T575M	probably damaging	Het
Atp2c1	A	T	9: 105,422,976	M708K	probably damaging	Het
C9	A	G	15: 6,483,119	T241A	possibly damaging	Het
Ccrl2	T	C	9: 111,056,364	D22G	probably benign	Het
Cd47	A	G	16: 49,867,842	I42V	probably benign	Het
Cntnap5c	T	C	17: 58,330,202	S1025P	probably benign	Het
Col8a1	T	C	16: 57,626,916	M744V	unknown	Het
Cstf3	A	G	2: 104,653,086		probably benign	Het
Dnah8	G	A	17: 30,854,898	R4514H	probably damaging	Het
Dnaic1	G	A	4: 41,602,615	R113H	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Glt6d1	ACCC	ACCCC	2: 25,795,167		probably null	Het
Gm10717	A	G	9: 3,025,532	Y39C	probably benign	Het
Hivep1	C	T	13: 42,158,601	T1439I	probably benign	Het
Iqgap2	T	C	13: 95,668,528		probably null	Het
Kif1c	T	C	11: 70,703,771	F86L	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Ldb1	C	T	19: 46,044,892		probably benign	Het
Lrmda	T	A	14: 22,027,331		probably benign	Het
Med23	T	C	10: 24,891,120	L369S	probably damaging	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Myo1b	G	T	1: 51,776,346	H614N	possibly damaging	Het
Neurl1b	C	T	17: 26,414,975	T4M	probably damaging	Het
Olfr1095	T	C	2: 86,851,591	T36A	probably benign	Het
Olfr129	T	C	17: 38,055,368	Y66C	probably damaging	Het
Polg	G	A	7: 79,456,791	Q163*	probably null	Het
Pramef8	A	G	4: 143,419,379	T473A	probably benign	Het
Sdk2	G	A	11: 113,800,244	P1835L	probably damaging	Het
Slc35a5	A	T	16: 45,147,322	I138N	probably damaging	Het
Snx31	T	C	15: 36,523,558		probably null	Het
Speg	A	T	1: 75,426,782	H2590L	probably damaging	Het
Spink4	T	A	4: 40,929,136	C54S	probably damaging	Het
Swap70	A	G	7: 110,270,047	E349G	probably damaging	Het
Sybu	A	G	15: 44,672,632	V766A	possibly damaging	Het
Tns3	G	A	11: 8,492,999	R455W	probably damaging	Het
Tnxb	T	A	17: 34,712,964	V2157E	possibly damaging	Het
Trak2	A	T	1: 58,946,245		probably null	Het
Trav18	C	T	14: 53,831,617	R39C	possibly damaging	Het
Uroc1	G	A	6: 90,346,355	V352M	probably damaging	Het
Zfp106	A	C	2: 120,534,599	I442M	probably benign	Het
Zfp935	G	A	13: 62,455,032	Q98*	probably null	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
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
R5312:Kbtbd11	UTSW	8	15028589	missense	possibly damaging	0.92
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'- TCTACCGCCTGCTCAAGTAC -3'
(R):5'- CTCAAATGCTGGACAGTGGAG -3'

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

Posted On

2015-01-23