Mutagenetix > Incidental Mutation

Incidental Mutation 'R9156:Kbtbd8'

695366

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

068974-MU

Accession Numbers

Essential gene?

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

Stock #

R9156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95094861-95106774 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 95099825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 445 (Q445*)

Ref Sequence

ENSEMBL: ENSMUSP00000032107 (fasta)

Gene Model

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

AlphaFold

Q3UQV5

Predicted Effect

probably null
Transcript: ENSMUST00000032107
AA Change: Q445*

SMART Domains

Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: Q445*

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 null
Transcript: ENSMUST00000119582
AA Change: Q368*

SMART Domains

Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: Q368*

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 benign
Transcript: ENSMUST00000122938

SMART Domains

Protein: ENSMUSP00000145009
Gene: ENSMUSG00000030031

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: 98.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,647,957 (GRCm39)	L1150V	probably damaging	Het
AB124611	A	G	9: 21,455,989 (GRCm39)	D194G	possibly damaging	Het
Adgrv1	A	G	13: 81,669,302 (GRCm39)	L2418P	probably benign	Het
Ap3m1	A	G	14: 21,090,152 (GRCm39)	S213P	probably damaging	Het
Apobec2	A	T	17: 48,739,531 (GRCm39)	L36H		Het
Arrb1	A	G	7: 99,237,280 (GRCm39)	D78G		Het
Astn1	A	G	1: 158,338,555 (GRCm39)	Q434R	probably damaging	Het
Cadps	C	G	14: 12,705,676 (GRCm38)	D240H	probably damaging	Het
Cfhr4	A	G	1: 139,660,085 (GRCm39)	I680T	probably damaging	Het
Cmya5	A	C	13: 93,233,878 (GRCm39)	D403E	unknown	Het
Crxos	A	C	7: 15,631,436 (GRCm39)	I45L	probably benign	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah2	A	G	11: 69,313,687 (GRCm39)	I4204T		Het
Ei24	A	G	9: 36,697,327 (GRCm39)	S134P	probably damaging	Het
Eif2ak3	G	T	6: 70,860,614 (GRCm39)	V397F	probably damaging	Het
Eif4g2	T	C	7: 110,672,969 (GRCm39)	I134V		Het
Fam186a	A	G	15: 99,841,159 (GRCm39)	I1695T	possibly damaging	Het
Gcnt3	T	C	9: 69,941,939 (GRCm39)	M210V	probably damaging	Het
Gpatch8	A	G	11: 102,370,299 (GRCm39)	S1080P	probably benign	Het
Gtf3c1	A	G	7: 125,244,949 (GRCm39)	L1695P	possibly damaging	Het
Haus3	A	G	5: 34,324,994 (GRCm39)	F222L	probably damaging	Het
Kcnc3	A	G	7: 44,240,592 (GRCm39)	N95D	probably damaging	Het
Krt40	C	T	11: 99,430,693 (GRCm39)		probably null	Het
Lgi1	A	G	19: 38,289,746 (GRCm39)	T271A	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Map3k21	A	G	8: 126,665,463 (GRCm39)	T551A	possibly damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Mug1	C	A	6: 121,851,390 (GRCm39)	D762E	probably damaging	Het
Myo1e	A	T	9: 70,266,605 (GRCm39)	N615I	probably damaging	Het
Or4k36	T	C	2: 111,145,827 (GRCm39)	M1T	probably null	Het
Or51f23	T	C	7: 102,453,339 (GRCm39)	L218P	probably damaging	Het
Pld5	T	C	1: 175,803,104 (GRCm39)	E387G	possibly damaging	Het
Pld5	A	G	1: 175,902,003 (GRCm39)	V195A	probably benign	Het
Rad54l	T	C	4: 115,980,349 (GRCm39)		probably benign	Het
Rnf123	A	T	9: 107,940,227 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,331,574 (GRCm39)	E2262G		Het
Rp1	C	A	1: 4,234,161 (GRCm39)	V910L	unknown	Het
Rpp21	A	T	17: 36,568,407 (GRCm39)	C23S	probably benign	Het
Scn11a	T	C	9: 119,588,989 (GRCm39)	M1306V	possibly damaging	Het
Scn2b	C	T	9: 45,036,734 (GRCm39)	L81F	possibly damaging	Het
Sco2	T	C	15: 89,256,363 (GRCm39)	D97G	probably damaging	Het
Slc25a54	T	C	3: 109,001,548 (GRCm39)	V112A	probably benign	Het
Slc5a11	A	T	7: 122,864,492 (GRCm39)	K363*	probably null	Het
Smg1	G	T	7: 117,753,884 (GRCm39)	T2563K	unknown	Het
Snap47	A	T	11: 59,319,290 (GRCm39)	S283T	probably damaging	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Stat1	G	T	1: 52,178,388 (GRCm39)	R274L	probably damaging	Het
Stoml1	A	G	9: 58,164,409 (GRCm39)	T166A		Het
Svs5	G	T	2: 164,079,509 (GRCm39)	Q133K	probably benign	Het
Tas2r107	T	A	6: 131,636,422 (GRCm39)	H209L	probably benign	Het
Tmco3	T	A	8: 13,360,228 (GRCm39)	V477D	possibly damaging	Het
Tmem131	A	T	1: 36,880,767 (GRCm39)	S168T	possibly damaging	Het
Tmem41a	T	C	16: 21,755,859 (GRCm39)	N149S	probably damaging	Het
Ttll4	T	C	1: 74,719,225 (GRCm39)	F359L	probably benign	Het
Ttn	T	A	2: 76,785,162 (GRCm39)	M784L	unknown	Het
Ubr1	A	G	2: 120,703,603 (GRCm39)		probably null	Het
Ubxn2b	C	T	4: 6,214,646 (GRCm39)	P227S	probably damaging	Het
Upb1	C	T	10: 75,265,961 (GRCm39)	L263F	probably benign	Het
Usp15	T	A	10: 122,949,553 (GRCm39)	T935S	probably benign	Het
Zscan4-ps3	G	A	7: 11,347,164 (GRCm39)	C400Y	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
R7073:Kbtbd8	UTSW	6	95,098,814 (GRCm39)	missense	probably damaging	1.00
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
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'- AATAGGCTGCAAGCTAGTATACTGC -3'
(R):5'- AGAGAACTGACTATTTCGGGAAC -3'

Sequencing Primer
(F):5'- CTGCAAGCTAGTATACTGCTGTGG -3'
(R):5'- GAACTGACTATTTCGGGAACTTAGG -3'

Posted On

2022-01-20