Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01123:Kbtbd7'

52706

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kbtbd7

Ensembl Gene

ENSMUSG00000043881

Gene Name

kelch repeat and BTB (POZ) domain containing 7

Synonyms

1110008P08Rik, LOC211255

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL01123

Quality Score

Status

Chromosome

Chromosomal Location

79663951-79668476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79666052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 628 (V628A)

Ref Sequence

ENSEMBL: ENSMUSP00000060768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061222]

AlphaFold

G5E8C2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061222
AA Change: V628A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060768
Gene: ENSMUSG00000043881
AA Change: V628A

Domain	Start	End	E-Value	Type
Blast:BTB	11	44	2e-11	BLAST
BTB	63	168	1.05e-23	SMART
BACK	173	279	1.41e-19	SMART
low complexity region	317	340	N/A	INTRINSIC
Pfam:Kelch_1	434	481	1.7e-9	PFAM
low complexity region	657	676	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	T	10: 28,849,934 (GRCm39)	D167E	probably damaging	Het
Aadat	A	T	8: 60,979,648 (GRCm39)	E170V	probably benign	Het
Acsf2	T	C	11: 94,461,276 (GRCm39)	E300G	probably benign	Het
Agbl3	C	T	6: 34,823,911 (GRCm39)	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,665,118 (GRCm39)		probably benign	Het
Arhgef40	C	A	14: 52,231,803 (GRCm39)	Q730K	probably damaging	Het
Armc3	C	T	2: 19,206,616 (GRCm39)	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,786,490 (GRCm39)	T233S	probably benign	Het
Bnc1	G	A	7: 81,623,455 (GRCm39)	Q591*	probably null	Het
Bsn	A	T	9: 107,993,185 (GRCm39)	F856I	probably damaging	Het
CK137956	T	A	4: 127,829,643 (GRCm39)	T558S	probably benign	Het
Coq8b	G	A	7: 26,939,509 (GRCm39)	V180I	probably damaging	Het
Csmd1	A	T	8: 17,584,944 (GRCm39)	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,496,152 (GRCm39)	S769P	possibly damaging	Het
Diras1	T	A	10: 80,858,249 (GRCm39)	M1L	probably damaging	Het
Fam161b	A	G	12: 84,404,438 (GRCm39)	W81R	probably benign	Het
Fat4	A	T	3: 39,011,418 (GRCm39)	I2173L	probably benign	Het
Fbn2	T	C	18: 58,237,153 (GRCm39)	T617A	possibly damaging	Het
Gabrq	G	A	X: 71,880,439 (GRCm39)	D311N	probably benign	Het
Isl2	G	T	9: 55,452,746 (GRCm39)	G335C	probably damaging	Het
Kmt2d	T	C	15: 98,735,029 (GRCm39)	M5378V	unknown	Het
Lrrc23	G	T	6: 124,755,782 (GRCm39)	D75E	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Matn1	T	C	4: 130,677,322 (GRCm39)	I177T	possibly damaging	Het
Mtor	T	C	4: 148,537,494 (GRCm39)	S60P	probably benign	Het
Naip6	T	C	13: 100,440,946 (GRCm39)	E278G	probably benign	Het
Nsun6	T	C	2: 15,053,789 (GRCm39)	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,887,076 (GRCm39)	S492T	probably benign	Het
Pakap	C	T	4: 57,757,627 (GRCm39)	Q188*	probably null	Het
Pom121	A	T	5: 135,420,560 (GRCm39)	V287D	unknown	Het
Ptprq	A	T	10: 107,522,079 (GRCm39)	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,024,222 (GRCm39)	T178A	probably benign	Het
Pygm	A	G	19: 6,441,424 (GRCm39)	N473S	probably benign	Het
Ros1	A	T	10: 51,996,905 (GRCm39)	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,832,154 (GRCm39)	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,660,265 (GRCm39)	S6P	possibly damaging	Het
Sgca	T	A	11: 94,863,113 (GRCm39)	Q80L	probably damaging	Het
Skint6	A	G	4: 112,661,879 (GRCm39)	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 131,898,736 (GRCm39)	N600K	probably benign	Het
Spata20	T	C	11: 94,374,221 (GRCm39)	T350A	probably benign	Het
Syne1	G	T	10: 5,294,921 (GRCm39)	Y1227*	probably null	Het
Unc13c	T	C	9: 73,840,479 (GRCm39)	Y124C	probably benign	Het
Usp40	G	A	1: 87,913,845 (GRCm39)	T416I	probably benign	Het
Vmn1r200	T	C	13: 22,579,571 (GRCm39)	W116R	probably benign	Het
Vps4a	T	C	8: 107,765,851 (GRCm39)		probably benign	Het
Zfyve16	A	G	13: 92,629,030 (GRCm39)	V1469A	probably damaging	Het

Other mutations in Kbtbd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Kbtbd7	APN	14	79,665,486 (GRCm39)	missense	possibly damaging	0.82
R0973:Kbtbd7	UTSW	14	79,664,870 (GRCm39)	missense	possibly damaging	0.48
R0973:Kbtbd7	UTSW	14	79,664,870 (GRCm39)	missense	possibly damaging	0.48
R0974:Kbtbd7	UTSW	14	79,664,870 (GRCm39)	missense	possibly damaging	0.48
R1236:Kbtbd7	UTSW	14	79,665,272 (GRCm39)	missense	probably benign	0.05
R2909:Kbtbd7	UTSW	14	79,665,922 (GRCm39)	missense	probably benign	0.16
R4731:Kbtbd7	UTSW	14	79,666,240 (GRCm39)	makesense	probably null
R4732:Kbtbd7	UTSW	14	79,666,240 (GRCm39)	makesense	probably null
R4733:Kbtbd7	UTSW	14	79,666,240 (GRCm39)	makesense	probably null
R4984:Kbtbd7	UTSW	14	79,664,602 (GRCm39)	missense	probably damaging	1.00
R5712:Kbtbd7	UTSW	14	79,666,205 (GRCm39)	missense	possibly damaging	0.86
R6699:Kbtbd7	UTSW	14	79,665,632 (GRCm39)	missense	probably benign	0.31
R7122:Kbtbd7	UTSW	14	79,665,757 (GRCm39)	missense	probably damaging	0.98
R7176:Kbtbd7	UTSW	14	79,665,194 (GRCm39)	missense	possibly damaging	0.77
R7457:Kbtbd7	UTSW	14	79,665,364 (GRCm39)	frame shift	probably null
R7875:Kbtbd7	UTSW	14	79,664,806 (GRCm39)	missense	probably benign	0.04
R8041:Kbtbd7	UTSW	14	79,666,144 (GRCm39)	missense	probably benign	0.43
R9435:Kbtbd7	UTSW	14	79,664,944 (GRCm39)	missense	probably benign	0.45

Posted On

2013-06-21