Mutagenetix > Incidental Mutation

Incidental Mutation 'R7556:Kbtbd13'

584782

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd13

Ensembl Gene

ENSMUSG00000054978

Gene Name

kelch repeat and BTB (POZ) domain containing 13

Synonyms

5430433E21Rik

MMRRC Submission

045624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R7556 (G1)

Quality Score

81.0075

Status

Not validated

Chromosome

Chromosomal Location

65295966-65298934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65298757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 60 (T60A)

Ref Sequence

ENSEMBL: ENSMUSP00000136872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068307]

AlphaFold

Q8C828

Predicted Effect

probably benign
Transcript: ENSMUST00000068307
AA Change: T60A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136872
Gene: ENSMUSG00000054978
AA Change: T60A

Domain	Start	End	E-Value	Type
Blast:BTB	7	105	9e-57	BLAST
Kelch	210	258	4.33e-4	SMART
Kelch	259	305	2.39e-6	SMART
Blast:Kelch	307	351	5e-6	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,221,611 (GRCm39)	W11*	probably null	Het
A2ml1	A	G	6: 128,546,927 (GRCm39)	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,195,358 (GRCm39)	Y592N	probably benign	Het
Adh6b	C	T	3: 138,058,546 (GRCm39)	T76I	probably damaging	Het
Aebp2	C	A	6: 140,623,137 (GRCm39)	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,028,839 (GRCm39)	D134G		Het
Atf7ip	T	C	6: 136,538,239 (GRCm39)	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,680,991 (GRCm39)	D832G	probably benign	Het
Atrnl1	G	A	19: 57,643,278 (GRCm39)	V389I	probably benign	Het
Bahcc1	T	C	11: 120,178,589 (GRCm39)	S2383P	probably damaging	Het
Brd9	A	G	13: 74,092,886 (GRCm39)	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,348,419 (GRCm39)	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,018,491 (GRCm39)		probably benign	Het
Cdc42ep4	C	G	11: 113,619,366 (GRCm39)	E342Q	probably damaging	Het
Celf3	C	T	3: 94,387,590 (GRCm39)	T54M	probably damaging	Het
Cenpn	T	C	8: 117,664,008 (GRCm39)	Y267H	probably damaging	Het
Chrnb4	T	C	9: 54,942,339 (GRCm39)	T312A	probably benign	Het
Clcn3	T	A	8: 61,382,521 (GRCm39)	T383S	probably damaging	Het
Cln3	T	C	7: 126,174,242 (GRCm39)	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,851,761 (GRCm39)	L50P	probably damaging	Het
Cnot6	T	C	11: 49,566,144 (GRCm39)	N512S	probably benign	Het
Col7a1	T	A	9: 108,811,533 (GRCm39)		probably null	Het
Cryba4	C	T	5: 112,398,969 (GRCm39)	R25Q	probably damaging	Het
Dnah5	A	G	15: 28,290,389 (GRCm39)	I1260V	probably null	Het
Dock2	G	T	11: 34,611,778 (GRCm39)	T195K	probably benign	Het
Dpp9	A	T	17: 56,497,012 (GRCm39)	I740N	possibly damaging	Het
Fbxl21	A	T	13: 56,674,741 (GRCm39)	N31Y	probably benign	Het
Frat1	G	A	19: 41,818,959 (GRCm39)	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,367,208 (GRCm39)	F228S		Het
Golgb1	A	T	16: 36,736,155 (GRCm39)	M1842L	probably benign	Het
Got1	A	T	19: 43,491,469 (GRCm39)	M327K	probably damaging	Het
H4c9	A	G	13: 22,225,414 (GRCm39)	I27T	probably damaging	Het
Hexa	T	A	9: 59,470,582 (GRCm39)	L468Q	probably damaging	Het
Ift57	G	A	16: 49,526,491 (GRCm39)	V178I	probably benign	Het
Klk1b5	A	G	7: 43,496,649 (GRCm39)	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,759,666 (GRCm39)	G16C	unknown	Het
Lamb3	T	C	1: 193,014,757 (GRCm39)	S639P	probably benign	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mcf2l	A	G	8: 13,023,071 (GRCm39)	T86A	probably damaging	Het
Mecom	G	T	3: 30,041,220 (GRCm39)	H125N	probably benign	Het
Med18	T	C	4: 132,187,247 (GRCm39)	H84R	probably benign	Het
Muc2	A	G	7: 141,307,439 (GRCm39)	Y798C		Het
Mycbp	T	C	4: 123,799,060 (GRCm39)	Y17H	probably damaging	Het
Nacad	C	T	11: 6,551,272 (GRCm39)	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,320,794 (GRCm39)	V1092I	probably damaging	Het
Nomo1	A	G	7: 45,715,642 (GRCm39)	E696G	probably damaging	Het
Notch4	G	A	17: 34,794,444 (GRCm39)	C741Y	probably damaging	Het
Or10g7	A	G	9: 39,905,978 (GRCm39)	N291D	probably damaging	Het
Or6d12	C	T	6: 116,493,697 (GRCm39)	Q320*	probably null	Het
Osbpl10	C	A	9: 115,036,692 (GRCm39)	H229Q	probably damaging	Het
Pif1	A	T	9: 65,496,993 (GRCm39)		probably null	Het
Plk2	T	G	13: 110,533,122 (GRCm39)		probably null	Het
Ppp1r42	T	C	1: 10,065,408 (GRCm39)	H172R	probably benign	Het
Ring1	A	G	17: 34,240,688 (GRCm39)	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,117,863 (GRCm39)	Y475D	probably damaging	Het
Sbf2	T	A	7: 109,913,260 (GRCm39)	K1671N	probably benign	Het
Sema6d	A	G	2: 124,496,109 (GRCm39)	N51S	probably damaging	Het
Setx	C	A	2: 29,036,505 (GRCm39)	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,425,162 (GRCm39)	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,843,119 (GRCm39)	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,140,514 (GRCm39)	K173*	probably null	Het
Smc2	T	C	4: 52,457,379 (GRCm39)	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,849,798 (GRCm39)	M777V	probably benign	Het
Stkld1	A	T	2: 26,837,307 (GRCm39)	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,799,857 (GRCm39)	V93A		Het
Tbx20	T	C	9: 24,661,573 (GRCm39)		probably null	Het
Trbv20	G	A	6: 41,165,715 (GRCm39)	V47I	probably benign	Het
Trip4	A	T	9: 65,782,155 (GRCm39)	C192*	probably null	Het
Tsbp1	A	T	17: 34,656,691 (GRCm39)	I103F	unknown	Het
Tulp2	A	G	7: 45,168,005 (GRCm39)		probably null	Het
Ush2a	C	A	1: 188,689,690 (GRCm39)	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927 (GRCm39)	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,898,093 (GRCm39)	N369K	probably benign	Het
Vmn2r59	A	T	7: 41,695,233 (GRCm39)	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Xpot	A	G	10: 121,449,411 (GRCm39)	S30P	probably benign	Het
Zfp947	T	C	17: 22,364,597 (GRCm39)	Y359C	probably benign	Het

Other mutations in Kbtbd13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1594:Kbtbd13	UTSW	9	65,298,901 (GRCm39)	missense	probably benign	0.00
R4774:Kbtbd13	UTSW	9	65,298,025 (GRCm39)	missense	probably benign	0.18
R6392:Kbtbd13	UTSW	9	65,297,619 (GRCm39)	missense	possibly damaging	0.94
R7638:Kbtbd13	UTSW	9	65,298,605 (GRCm39)	nonsense	probably null
R7874:Kbtbd13	UTSW	9	65,297,584 (GRCm39)	missense	probably benign	0.04
R9260:Kbtbd13	UTSW	9	65,298,852 (GRCm39)	missense	possibly damaging	0.58
X0061:Kbtbd13	UTSW	9	65,297,970 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- ATGTAGAGCTTGTTGCCCAGG -3'
(R):5'- AGCCAGGAAGGTATTTATAACCCC -3'

Sequencing Primer
(F):5'- CTCGTCCAGGAAGCACATG -3'
(R):5'- TAGCCCCAGAGTCAGTGG -3'

Posted On

2019-10-17