Mutagenetix > Incidental Mutation

Incidental Mutation 'R7073:Kbtbd8'

549029

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd8

Ensembl Gene

ENSMUSG00000030031

Gene Name

kelch repeat and BTB (POZ) domain containing 8

Synonyms

SSEC-51, SSEC51, Takrp, SSEC 51

MMRRC Submission

045169-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R7073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95094861-95106774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95098814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 108 (A108T)

Ref Sequence

ENSEMBL: ENSMUSP00000032107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032107] [ENSMUST00000119582] [ENSMUST00000122938]

AlphaFold

Q3UQV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032107
AA Change: A108T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: A108T

Domain	Start	End	E-Value	Type
BTB	49	147	7.37e-28	SMART
BACK	152	254	1.37e-26	SMART
Kelch	334	388	2.63e-3	SMART
Kelch	389	439	6.13e-4	SMART
Kelch	480	530	5.06e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119582
AA Change: A31T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: A31T

Domain	Start	End	E-Value	Type
Pfam:BTB	1	70	5.1e-14	PFAM
BACK	75	177	1.37e-26	SMART
Kelch	257	311	2.63e-3	SMART
Kelch	312	362	6.13e-4	SMART
Blast:Kelch	364	402	4e-18	BLAST
Kelch	403	453	5.06e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122938
AA Change: A124T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145009
Gene: ENSMUSG00000030031
AA Change: A124T

Domain	Start	End	E-Value	Type
BTB	65	142	1.4e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	G	13: 81,709,593 (GRCm39)	E1133D	probably damaging	Het
Ankrd13b	A	T	11: 77,363,335 (GRCm39)	D505E	probably benign	Het
Ano1	C	T	7: 144,192,289 (GRCm39)	E361K	probably damaging	Het
Arap3	T	A	18: 38,107,495 (GRCm39)	K1341*	probably null	Het
Arhgef17	A	C	7: 100,579,198 (GRCm39)	Y583*	probably null	Het
Ash1l	G	A	3: 88,892,647 (GRCm39)	E1509K	probably damaging	Het
B430305J03Rik	T	G	3: 61,271,681 (GRCm39)	R21S	unknown	Het
Bbof1	A	G	12: 84,473,609 (GRCm39)	E313G	probably damaging	Het
Catsperb	C	T	12: 101,475,497 (GRCm39)	T347I	probably benign	Het
Ccdc24	G	T	4: 117,729,201 (GRCm39)	A92D	probably damaging	Het
Ccdc63	T	C	5: 122,249,073 (GRCm39)	T419A	probably benign	Het
Ccdc7a	C	T	8: 129,618,866 (GRCm39)	V893I	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,330 (GRCm39)	D537E	probably benign	Het
Cd276	T	C	9: 58,444,615 (GRCm39)	S119G	probably damaging	Het
Cdkn3	T	C	14: 47,004,647 (GRCm39)	Y70H	possibly damaging	Het
Cdo1	G	A	18: 46,861,266 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,581,247 (GRCm39)	F10Y	probably damaging	Het
Cep290	A	T	10: 100,374,865 (GRCm39)	K1370N	possibly damaging	Het
Crb1	T	A	1: 139,176,049 (GRCm39)	I645F	probably damaging	Het
Cul7	T	C	17: 46,969,657 (GRCm39)	W975R	probably damaging	Het
Ddx39b	A	C	17: 35,471,826 (GRCm39)	E324A	probably benign	Het
Diaph1	T	G	18: 38,022,867 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,321,318 (GRCm39)	R3917*	probably null	Het
Dnph1	T	A	17: 46,807,815 (GRCm39)	L27Q	probably damaging	Het
Duox2	A	G	2: 122,119,788 (GRCm39)	F880S	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Enpep	A	T	3: 129,106,319 (GRCm39)	Y302*	probably null	Het
Ergic2	G	T	6: 148,096,707 (GRCm39)	H186Q	probably damaging	Het
Fam83b	T	C	9: 76,453,031 (GRCm39)	D12G	probably benign	Het
Fbxw16	A	T	9: 109,270,123 (GRCm39)	V206D	probably damaging	Het
Fhod1	A	T	8: 106,063,771 (GRCm39)	V278D	unknown	Het
Gba2	G	C	4: 43,573,753 (GRCm39)	Q180E	probably damaging	Het
Grhl3	G	A	4: 135,300,723 (GRCm39)	L5F	probably benign	Het
H2-T15	A	T	17: 36,369,235 (GRCm39)	C7S	unknown	Het
Ifit1bl1	C	T	19: 34,576,667 (GRCm39)		probably null	Het
Ift57	A	G	16: 49,584,230 (GRCm39)	T413A	probably benign	Het
Itga2	A	G	13: 114,996,149 (GRCm39)	F714S	probably damaging	Het
Jmy	A	G	13: 93,577,841 (GRCm39)	S776P	probably benign	Het
Kpna6	G	A	4: 129,548,139 (GRCm39)	A230V	probably damaging	Het
Lrfn1	C	T	7: 28,159,397 (GRCm39)	L439F	possibly damaging	Het
Lrrc1	T	A	9: 77,375,847 (GRCm39)	I147F	probably benign	Het
Lrrc7	C	T	3: 157,832,884 (GRCm39)	G1425R	probably damaging	Het
Madd	T	A	2: 90,992,854 (GRCm39)	I1022F	probably damaging	Het
Map2k2	A	T	10: 80,942,017 (GRCm39)	T13S	probably benign	Het
Mdc1	G	A	17: 36,164,960 (GRCm39)	V1459I	probably benign	Het
Mdh1b	G	A	1: 63,760,719 (GRCm39)	T114M	probably damaging	Het
Mfsd2a	T	C	4: 122,845,088 (GRCm39)	I208V	possibly damaging	Het
Mmrn1	T	A	6: 60,965,411 (GRCm39)	D1147E	probably damaging	Het
Nbeal2	T	A	9: 110,455,177 (GRCm39)	I2574F	probably damaging	Het
Nr1d1	T	G	11: 98,662,892 (GRCm39)	S34R	probably damaging	Het
Nr3c1	A	T	18: 39,619,449 (GRCm39)	D279E	probably benign	Het
Nrde2	T	C	12: 100,098,747 (GRCm39)	D640G	probably benign	Het
Odf4	A	G	11: 68,817,514 (GRCm39)	L58P	probably damaging	Het
Or4k41	A	T	2: 111,279,631 (GRCm39)	I49F	probably benign	Het
Or4p22	A	T	2: 88,317,651 (GRCm39)	I192F	probably benign	Het
Otud6b	A	C	4: 14,811,743 (GRCm39)	M300R	probably damaging	Het
Pamr1	T	A	2: 102,471,280 (GRCm39)	D534E	probably benign	Het
Pcdh7	T	A	5: 57,878,299 (GRCm39)	V618E	probably benign	Het
Pcgf6	A	C	19: 47,031,226 (GRCm39)	N266K	possibly damaging	Het
Plcz1	A	T	6: 139,968,849 (GRCm39)	Y196*	probably null	Het
Plxna1	A	T	6: 89,334,311 (GRCm39)	L106Q	probably damaging	Het
Qrich2	G	A	11: 116,337,701 (GRCm39)	A184V	probably damaging	Het
Rimkla	A	G	4: 119,325,275 (GRCm39)	L378S	probably benign	Het
Rufy1	G	T	11: 50,295,290 (GRCm39)	H472Q	probably benign	Het
Samd7	T	A	3: 30,810,631 (GRCm39)	M216K	probably benign	Het
Samd9l	A	T	6: 3,375,856 (GRCm39)	Y468*	probably null	Het
Scn2a	T	G	2: 65,558,787 (GRCm39)	L1194R	probably benign	Het
Sgo2a	T	A	1: 58,056,944 (GRCm39)	S1043T	possibly damaging	Het
Slc6a17	G	T	3: 107,378,755 (GRCm39)	H642Q	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
St6galnac3	T	A	3: 153,117,274 (GRCm39)	T150S	possibly damaging	Het
Strip2	T	A	6: 29,941,911 (GRCm39)	I627N	possibly damaging	Het
Sv2c	A	T	13: 96,224,758 (GRCm39)	C184S	probably damaging	Het
Tm7sf2	A	T	19: 6,116,527 (GRCm39)		probably null	Het
Ttc28	T	C	5: 111,371,282 (GRCm39)	I608T	possibly damaging	Het
Vmn1r183	T	G	7: 23,754,926 (GRCm39)	L243R	probably damaging	Het
Vmn1r68	T	C	7: 10,261,778 (GRCm39)	T107A	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Zfp516	T	A	18: 83,006,325 (GRCm39)		probably null	Het
Zpbp2	A	G	11: 98,443,335 (GRCm39)	D56G	probably damaging	Het

Other mutations in Kbtbd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Kbtbd8	APN	6	95,103,494 (GRCm39)	missense	probably damaging	1.00
IGL01382:Kbtbd8	APN	6	95,099,211 (GRCm39)	missense	probably damaging	1.00
IGL01459:Kbtbd8	APN	6	95,099,789 (GRCm39)	missense	probably benign	0.10
IGL01656:Kbtbd8	APN	6	95,095,657 (GRCm39)	missense	probably benign	0.02
IGL02100:Kbtbd8	APN	6	95,099,663 (GRCm39)	missense	probably damaging	1.00
IGL02133:Kbtbd8	APN	6	95,098,713 (GRCm39)	splice site	probably benign
IGL02532:Kbtbd8	APN	6	95,103,517 (GRCm39)	missense	probably benign	0.17
IGL02982:Kbtbd8	APN	6	95,103,547 (GRCm39)	missense	probably benign	0.01
IGL03074:Kbtbd8	APN	6	95,099,333 (GRCm39)	missense	probably damaging	0.99
R0782:Kbtbd8	UTSW	6	95,099,213 (GRCm39)	missense	probably damaging	1.00
R2075:Kbtbd8	UTSW	6	95,103,664 (GRCm39)	missense	possibly damaging	0.47
R2329:Kbtbd8	UTSW	6	95,103,761 (GRCm39)	missense	probably benign	0.00
R2698:Kbtbd8	UTSW	6	95,103,570 (GRCm39)	nonsense	probably null
R3906:Kbtbd8	UTSW	6	95,103,565 (GRCm39)	missense	probably damaging	1.00
R4276:Kbtbd8	UTSW	6	95,103,914 (GRCm39)	missense	probably damaging	0.99
R4915:Kbtbd8	UTSW	6	95,103,515 (GRCm39)	missense	possibly damaging	0.95
R5141:Kbtbd8	UTSW	6	95,098,820 (GRCm39)	missense	probably damaging	1.00
R5294:Kbtbd8	UTSW	6	95,098,813 (GRCm39)	nonsense	probably null
R5779:Kbtbd8	UTSW	6	95,095,515 (GRCm39)	missense	probably benign
R6645:Kbtbd8	UTSW	6	95,103,730 (GRCm39)	nonsense	probably null
R7161:Kbtbd8	UTSW	6	95,103,677 (GRCm39)	missense	probably benign	0.30
R7600:Kbtbd8	UTSW	6	95,099,573 (GRCm39)	missense	probably damaging	1.00
R7731:Kbtbd8	UTSW	6	95,095,559 (GRCm39)	missense	probably benign	0.00
R9156:Kbtbd8	UTSW	6	95,099,825 (GRCm39)	nonsense	probably null
R9617:Kbtbd8	UTSW	6	95,103,874 (GRCm39)	missense	possibly damaging	0.88
R9747:Kbtbd8	UTSW	6	95,098,838 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TCAGAAGGGCTTGTATGTGC -3'
(R):5'- GTTCTTTGGTGACACACAGAAAC -3'

Sequencing Primer
(F):5'- AAGGGCTTGTATGTGCGATGAC -3'
(R):5'- GGTGACACACAGAAACTTTTTACGG -3'

Posted On

2019-05-15