Mutagenetix > Incidental Mutation

Incidental Mutation 'R5712:Kbtbd7'

450973

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd7

Ensembl Gene

ENSMUSG00000043881

Gene Name

kelch repeat and BTB (POZ) domain containing 7

Synonyms

1110008P08Rik, LOC211255

MMRRC Submission

043334-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79663951-79668476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79666205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 679 (V679A)

Ref Sequence

ENSEMBL: ENSMUSP00000060768 (fasta)

Gene Model

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

AlphaFold

G5E8C2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061222
AA Change: V679A

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060768
Gene: ENSMUSG00000043881
AA Change: V679A

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,981,563 (GRCm39)	T133A	probably benign	Het
Adcy8	C	T	15: 64,626,715 (GRCm39)	E708K	probably damaging	Het
Alkbh1	A	G	12: 87,475,883 (GRCm39)	C300R	probably benign	Het
Arhgap11a	T	C	2: 113,675,646 (GRCm39)	N52D	probably benign	Het
Ash1l	T	A	3: 88,959,297 (GRCm39)	S2225T	probably damaging	Het
Aspn	A	T	13: 49,716,995 (GRCm39)	Y257F	probably damaging	Het
Atp2b4	A	C	1: 133,658,278 (GRCm39)	V544G	probably damaging	Het
Bclaf1	T	G	10: 20,209,277 (GRCm39)	Y498D	probably damaging	Het
Cacna1d	A	G	14: 29,796,954 (GRCm39)	I1520T	probably damaging	Het
Castor1	T	C	11: 4,168,378 (GRCm39)	L22P	probably damaging	Het
Cfap57	G	T	4: 118,471,992 (GRCm39)	P129Q	probably damaging	Het
Clcn3	A	G	8: 61,390,332 (GRCm39)		probably null	Het
Epx	A	T	11: 87,765,679 (GRCm39)	Y93*	probably null	Het
Erich6b	T	A	14: 75,896,340 (GRCm39)	D75E	possibly damaging	Het
Exoc3l4	T	A	12: 111,390,476 (GRCm39)	Y350*	probably null	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fga	C	T	3: 82,940,440 (GRCm39)	T698I	possibly damaging	Het
Fsip2	T	C	2: 82,839,192 (GRCm39)	S6987P	possibly damaging	Het
Gbp9	T	A	5: 105,242,421 (GRCm39)	N106I	possibly damaging	Het
Gls	T	A	1: 52,235,911 (GRCm39)	K401N	probably damaging	Het
Gpatch2l	A	G	12: 86,291,254 (GRCm39)	K146E	probably damaging	Het
Gpr3	A	G	4: 132,937,719 (GRCm39)	S318P	probably benign	Het
Kcnu1	T	A	8: 26,409,678 (GRCm39)	L127H	probably damaging	Het
Lck	G	T	4: 129,450,103 (GRCm39)	H214Q	probably benign	Het
Lrch4	A	C	5: 137,636,188 (GRCm39)	S380R	possibly damaging	Het
Lrrk2	A	T	15: 91,586,425 (GRCm39)	K414*	probably null	Het
Maco1	A	T	4: 134,555,369 (GRCm39)	M368K	probably benign	Het
Med11	A	G	11: 70,344,058 (GRCm39)	E126G	probably damaging	Het
Mknk1	A	G	4: 115,712,203 (GRCm39)		probably null	Het
Mst1	T	C	9: 107,960,107 (GRCm39)	C355R	probably damaging	Het
Mtcl2	T	A	2: 156,872,841 (GRCm39)	E890V	probably damaging	Het
Myl10	T	C	5: 136,723,092 (GRCm39)	F14L	probably damaging	Het
Nfrkb	C	T	9: 31,325,932 (GRCm39)	T1125M	probably benign	Het
Nin	T	C	12: 70,089,543 (GRCm39)	T1291A	probably damaging	Het
Pcnt	T	C	10: 76,265,105 (GRCm39)	Q335R	probably damaging	Het
Phc2	A	G	4: 128,638,888 (GRCm39)	T83A	probably damaging	Het
Rdh19	T	A	10: 127,692,756 (GRCm39)	M141K	probably benign	Het
Rnf17	G	A	14: 56,708,856 (GRCm39)	V759I	probably benign	Het
Sirt7	A	T	11: 120,511,677 (GRCm39)	Y18*	probably null	Het
Slc27a5	T	C	7: 12,732,010 (GRCm39)		probably benign	Het
Synpo2	T	A	3: 122,914,859 (GRCm39)	I56F	probably damaging	Het
Tdrd6	C	A	17: 43,937,299 (GRCm39)	G1250C	probably damaging	Het
Tmem190	G	A	7: 4,787,288 (GRCm39)	G164D	probably damaging	Het
Tmigd1	T	C	11: 76,797,858 (GRCm39)	Y67H	probably damaging	Het
Trim3	T	A	7: 105,268,743 (GRCm39)	E70D	probably damaging	Het
Uap1	A	G	1: 169,994,414 (GRCm39)	F21L	possibly damaging	Het
Vmn1r176	A	T	7: 23,534,925 (GRCm39)	V76D	probably benign	Het
Vps13d	A	C	4: 144,813,743 (GRCm39)	S3245A	probably benign	Het
Wnt7a	T	C	6: 91,343,186 (GRCm39)	Y232C	probably damaging	Het
Zan	A	G	5: 137,398,360 (GRCm39)	V4224A	unknown	Het

Other mutations in Kbtbd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Kbtbd7	APN	14	79,666,052 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CACCATGTTAGGCCTTTTGC -3'
(R):5'- AATCATGGACTTTTAGCACAGC -3'

Sequencing Primer
(F):5'- AGGCCTTTTGCAGTTTGACTC -3'
(R):5'- GGACTTTTAGCACAGCAAATTATTG -3'

Posted On

2017-01-03