Mutagenetix > Incidental Mutation

Incidental Mutation 'R7731:Kbtbd8'

595825

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

045787-MU

Accession Numbers

Essential gene?

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

Stock #

R7731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95094861-95106774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95095559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 24 (N24K)

Ref Sequence

ENSEMBL: ENSMUSP00000032107 (fasta)

Gene Model

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

AlphaFold

Q3UQV5

Predicted Effect

probably benign
Transcript: ENSMUST00000032107
AA Change: N24K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: N24K

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 benign
Transcript: ENSMUST00000119582

SMART Domains

Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031

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
AA Change: N40K

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145009
Gene: ENSMUSG00000030031
AA Change: N40K

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: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,470 (GRCm39)	E210G	possibly damaging	Het
Accsl	T	C	2: 93,691,363 (GRCm39)	T372A	probably benign	Het
Adgrf5	T	A	17: 43,761,451 (GRCm39)	S1049T	probably damaging	Het
Agmo	G	A	12: 37,464,939 (GRCm39)	R405K	probably benign	Het
Akap3	A	G	6: 126,842,031 (GRCm39)	T217A	probably benign	Het
Ankfy1	T	A	11: 72,603,107 (GRCm39)	N45K	probably benign	Het
Ankrd11	G	A	8: 123,622,172 (GRCm39)	T560I	probably benign	Het
Aqp1	T	C	6: 55,322,804 (GRCm39)	Y186H	possibly damaging	Het
Arhgef18	G	A	8: 3,434,936 (GRCm39)	V194M	probably damaging	Het
Arnt	T	C	3: 95,391,086 (GRCm39)	V320A	probably benign	Het
B230217C12Rik	T	C	11: 97,732,226 (GRCm39)	L2P	unknown	Het
Bco1	C	A	8: 117,857,807 (GRCm39)	S477R	possibly damaging	Het
Brd4	A	G	17: 32,430,198 (GRCm39)	S703P	possibly damaging	Het
Ceacam3	T	A	7: 16,892,275 (GRCm39)	N339K		Het
Cebpb	A	G	2: 167,531,126 (GRCm39)	D62G	probably damaging	Het
Clca4a	T	C	3: 144,658,546 (GRCm39)	I890V	probably benign	Het
Cyp2d9	A	G	15: 82,339,633 (GRCm39)		probably null	Het
Cyth1	T	C	11: 118,059,879 (GRCm39)	T374A	possibly damaging	Het
Dennd3	A	T	15: 73,434,216 (GRCm39)	H962L	probably damaging	Het
Dhtkd1	T	G	2: 5,928,923 (GRCm39)	L249F	probably benign	Het
Dnah7b	T	A	1: 46,178,905 (GRCm39)	H859Q	probably benign	Het
E2f4	A	G	8: 106,025,265 (GRCm39)	D115G	probably damaging	Het
Eif4a3l1	A	G	6: 136,305,871 (GRCm39)	I111V	probably benign	Het
Exoc3l4	G	C	12: 111,397,182 (GRCm39)	D688H	possibly damaging	Het
Fan1	C	T	7: 64,022,444 (GRCm39)	V270I	probably benign	Het
Fat2	A	T	11: 55,201,532 (GRCm39)	I514N	probably damaging	Het
Fndc1	G	A	17: 7,992,271 (GRCm39)	T475I	unknown	Het
Fstl5	T	A	3: 76,569,069 (GRCm39)	I574N	probably damaging	Het
Fzd4	T	C	7: 89,057,258 (GRCm39)	V435A	possibly damaging	Het
Fzd6	T	C	15: 38,897,327 (GRCm39)	F492S	probably damaging	Het
Gm4924	T	A	10: 82,213,361 (GRCm39)	N386K	unknown	Het
Hbp1	A	T	12: 31,983,367 (GRCm39)	D362E	possibly damaging	Het
Hectd4	A	C	5: 121,445,077 (GRCm39)	M105L	probably benign	Het
Hivep2	C	T	10: 14,025,458 (GRCm39)	P2424L	probably benign	Het
Hspa4	A	T	11: 53,157,791 (GRCm39)		probably null	Het
Igf2bp3	A	G	6: 49,111,665 (GRCm39)	V122A	probably damaging	Het
Ikzf2	A	T	1: 69,578,302 (GRCm39)	N402K	possibly damaging	Het
Ip6k1	T	C	9: 107,921,927 (GRCm39)	F207S	probably damaging	Het
Krtap10-4	T	G	10: 77,662,654 (GRCm39)	T75P	unknown	Het
Macf1	C	A	4: 123,338,672 (GRCm39)	S4355I	probably benign	Het
Muc5b	A	T	7: 141,411,042 (GRCm39)		probably null	Het
Myo3a	G	A	2: 22,287,400 (GRCm39)	V179M	probably damaging	Het
Nup210	G	T	6: 91,048,870 (GRCm39)	T462K	possibly damaging	Het
Or11g27	T	A	14: 50,771,141 (GRCm39)	S91T	probably damaging	Het
Or1l4	A	G	2: 37,091,561 (GRCm39)	M103V	probably benign	Het
Or51f5	A	G	7: 102,424,141 (GRCm39)	I137V	probably benign	Het
Or5j1	T	C	2: 86,879,578 (GRCm39)	M1V	probably null	Het
Or8b53	A	G	9: 38,667,542 (GRCm39)	Q186R	possibly damaging	Het
Ostn	G	A	16: 27,165,668 (GRCm39)	R119Q	probably damaging	Het
Pcdhga11	A	T	18: 37,889,564 (GRCm39)	N191Y	probably benign	Het
Pcsk6	A	T	7: 65,683,641 (GRCm39)	Q752L	probably benign	Het
Pfas	T	C	11: 68,890,871 (GRCm39)	T347A	probably damaging	Het
Pkd1	A	T	17: 24,792,872 (GRCm39)	R1520W	probably damaging	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Prpf8	T	C	11: 75,399,732 (GRCm39)	S2264P	probably damaging	Het
Ptcd1	C	A	5: 145,088,174 (GRCm39)	R612S	probably benign	Het
Ptch2	T	A	4: 116,965,492 (GRCm39)	F359Y	probably benign	Het
Ptprr	A	C	10: 116,073,200 (GRCm39)	D474A	probably damaging	Het
Pum1	C	A	4: 130,490,274 (GRCm39)	Q846K	probably benign	Het
Slc22a14	C	T	9: 118,999,677 (GRCm39)	A505T	possibly damaging	Het
Smpdl3a	A	G	10: 57,678,650 (GRCm39)	Y151C	probably damaging	Het
Snrnp200	A	G	2: 127,071,022 (GRCm39)	N1101S	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Sptlc1	A	G	13: 53,487,993 (GRCm39)	V450A	probably benign	Het
Sqle	A	G	15: 59,187,821 (GRCm39)	Y43C	probably benign	Het
Srgap3	T	C	6: 112,743,858 (GRCm39)	H460R	probably benign	Het
Syt15	A	T	14: 33,945,024 (GRCm39)	E190D	possibly damaging	Het
Tbc1d10b	T	C	7: 126,797,993 (GRCm39)	K716R	probably benign	Het
Tbx20	T	C	9: 24,681,993 (GRCm39)	I120M	probably damaging	Het
Tgm1	T	G	14: 55,947,978 (GRCm39)	I274L	probably benign	Het
Tmem156	C	T	5: 65,232,905 (GRCm39)		probably null	Het
Tnk2	A	G	16: 32,488,952 (GRCm39)	D264G	possibly damaging	Het
Tsc22d4	A	G	5: 137,756,956 (GRCm39)	S306G	possibly damaging	Het
Tut1	T	A	19: 8,936,626 (GRCm39)	V150D	probably benign	Het
Uchl5	T	C	1: 143,670,275 (GRCm39)	F143L		Het
Vmn1r23	T	C	6: 57,903,319 (GRCm39)	K153R	probably benign	Het
Zfp236	A	T	18: 82,698,798 (GRCm39)	D94E	probably benign	Het
Zfp759	T	C	13: 67,287,690 (GRCm39)	Y414H	possibly 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
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'- GAACTTGTTCGCCCTTGTTGAG -3'
(R):5'- TTGAAAGGGAGTCTTGTACGGATAG -3'

Sequencing Primer
(F):5'- TCCTAGAGCCTGTGTCGG -3'
(R):5'- GCTGATTGCAGCAAGAAC -3'

Posted On

2019-11-12