Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03039:Kbtbd11'

408839

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kbtbd11

Ensembl Gene

ENSMUSG00000055675

Gene Name

kelch repeat and BTB (POZ) domain containing 11

Synonyms

4930465M17Rik, 2900016B01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL03039

Quality Score

Status

Chromosome

Chromosomal Location

15011025-15033333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15027467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 22 (D22G)

Ref Sequence

ENSEMBL: ENSMUSP00000139292 (fasta)

Gene Model

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

AlphaFold

Q8BNW9

Predicted Effect

probably benign
Transcript: ENSMUST00000069399
AA Change: D22G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000068321
Gene: ENSMUSG00000055675
AA Change: D22G

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 benign
Transcript: ENSMUST00000183471
AA Change: D22G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139292
Gene: ENSMUSG00000055675
AA Change: D22G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,418,055	E241G	probably benign	Het
Adam6b	T	C	12: 113,490,882	C440R	probably damaging	Het
Agbl2	A	G	2: 90,801,222	D308G	possibly damaging	Het
Cfh	G	T	1: 140,136,261	Q408K	possibly damaging	Het
Chrna7	A	G	7: 63,148,592	L114P	probably damaging	Het
Defa35	G	A	8: 21,065,823	C66Y	probably damaging	Het
Dnah12	C	A	14: 26,724,512	Q743K	probably benign	Het
Esco2	T	C	14: 65,831,418	K148E	probably damaging	Het
Gm17079	T	A	14: 51,693,061	E109V	probably damaging	Het
Herc2	T	A	7: 56,169,021		probably benign	Het
Igkv1-88	T	C	6: 68,862,292	Y112C	possibly damaging	Het
Igkv4-50	T	C	6: 69,701,058	R21G	probably benign	Het
Kcnb2	A	G	1: 15,711,211	D769G	probably benign	Het
Kdm2b	C	A	5: 122,881,671	W817L	probably benign	Het
Myo18b	A	G	5: 112,840,771	V983A	probably damaging	Het
Nr1d2	A	T	14: 18,215,184	M276K	probably benign	Het
Olfr1129	T	A	2: 87,575,192	M36K	probably benign	Het
Olfr320	T	A	11: 58,684,011	V46D	probably damaging	Het
Phf20	T	C	2: 156,298,541	Y712H	probably damaging	Het
Phkg2	T	A	7: 127,579,694	Y27*	probably null	Het
Pomt2	C	A	12: 87,110,366	L726F	probably benign	Het
Setd3	T	C	12: 108,162,970		probably null	Het
Skint4	T	C	4: 112,124,650	V272A	probably benign	Het
Slc41a2	A	G	10: 83,283,858	Y347H	probably benign	Het
Slc45a2	T	C	15: 11,012,687	S259P	probably benign	Het
Tgfbr3	A	C	5: 107,177,799		probably benign	Het
Tgfbrap1	A	T	1: 43,075,928	I4N	possibly damaging	Het
Trh	C	A	6: 92,243,728	R51L	probably damaging	Het
Vars2	A	T	17: 35,664,121	V312E	probably damaging	Het
Wdfy2	T	C	14: 62,948,720	V268A	probably benign	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
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
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

Posted On

2016-08-02