Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Kbtbd4'

49303

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd4

Ensembl Gene

ENSMUSG00000005505

Gene Name

kelch repeat and BTB (POZ) domain containing 4

Synonyms

2510026C23Rik

MMRRC Submission

038725-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90735113-90740905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90737948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 233 (K233E)

Ref Sequence

ENSEMBL: ENSMUSP00000107089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005647] [ENSMUST00000090682] [ENSMUST00000111464]

AlphaFold

Q8R179

Predicted Effect

probably benign
Transcript: ENSMUST00000005647

SMART Domains

Protein: ENSMUSP00000005647
Gene: ENSMUSG00000005510

Domain	Start	End	E-Value	Type
Pfam:Complex1_30kDa	85	207	1.9e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000077874

SMART Domains

Protein: ENSMUSP00000077036
Gene: ENSMUSG00000063235

Domain	Start	End	E-Value	Type
PTPc_DSPc	118	252	9.8e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090682
AA Change: K217E

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000088179
Gene: ENSMUSG00000005505
AA Change: K217E

Domain	Start	End	E-Value	Type
BTB	45	142	1.43e-25	SMART
BACK	147	239	6.08e-10	SMART
SCOP:d1k3ia3	279	467	8e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000111461

SMART Domains

Protein: ENSMUSP00000107087
Gene: ENSMUSG00000063235

Domain	Start	End	E-Value	Type
low complexity region	81	98	N/A	INTRINSIC
low complexity region	114	133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111464
AA Change: K233E

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107089
Gene: ENSMUSG00000005505
AA Change: K233E

Domain	Start	End	E-Value	Type
BTB	61	158	1.43e-25	SMART
BACK	163	255	6.08e-10	SMART
SCOP:d1k3ia3	295	483	9e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155372

Meta Mutation Damage Score

0.2536

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,984,797 (GRCm39)		probably benign	Het
Abcb1b	A	T	5: 8,914,113 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,391,592 (GRCm39)	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,413,408 (GRCm39)	W531R	probably damaging	Het
Ago4	A	G	4: 126,410,653 (GRCm39)	V246A	probably benign	Het
Arid5b	A	T	10: 68,021,863 (GRCm39)	D242E	probably damaging	Het
Arpp21	A	G	9: 111,955,573 (GRCm39)	V522A	probably benign	Het
Atg4b	T	A	1: 93,712,632 (GRCm39)		probably benign	Het
Capn12	T	C	7: 28,587,108 (GRCm39)	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,920,541 (GRCm39)	I360N	probably damaging	Het
Clic3	A	G	2: 25,348,150 (GRCm39)	Y99C	probably damaging	Het
Cux1	T	C	5: 136,336,713 (GRCm39)	E925G	probably damaging	Het
Dnah10	G	A	5: 124,852,314 (GRCm39)		probably null	Het
Dnah17	A	G	11: 118,001,363 (GRCm39)	V860A	possibly damaging	Het
Etv5	C	T	16: 22,254,825 (GRCm39)		probably benign	Het
Fam83a	T	A	15: 57,873,207 (GRCm39)	N345K	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gpm6a	A	G	8: 55,508,409 (GRCm39)		probably null	Het
Grid1	T	A	14: 35,031,342 (GRCm39)	Y312N	possibly damaging	Het
Gstm4	T	C	3: 107,950,841 (GRCm39)	N51S	probably benign	Het
Hid1	A	T	11: 115,239,635 (GRCm39)	I765N	probably damaging	Het
Hmmr	A	G	11: 40,600,816 (GRCm39)	V518A	unknown	Het
Itgb6	A	G	2: 60,499,541 (GRCm39)	V84A	probably benign	Het
Kif15	A	T	9: 122,838,498 (GRCm39)		probably benign	Het
Klre1	T	C	6: 129,560,156 (GRCm39)	S143P	probably damaging	Het
Krt81	T	C	15: 101,359,270 (GRCm39)	D216G	probably benign	Het
Mctp2	G	T	7: 71,730,570 (GRCm39)	H868Q	probably benign	Het
Morc2b	G	C	17: 33,354,906 (GRCm39)	Y955*	probably null	Het
Myog	A	C	1: 134,218,211 (GRCm39)	N140H	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Neil3	A	T	8: 54,091,810 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,321,273 (GRCm39)		probably null	Het
Or1o4	A	T	17: 37,591,182 (GRCm39)	L43*	probably null	Het
Or56a3b	G	A	7: 104,771,557 (GRCm39)	V298I	probably benign	Het
Or56b35	A	T	7: 104,963,579 (GRCm39)	M123L	probably benign	Het
Pramel16	A	T	4: 143,677,290 (GRCm39)	D96E	possibly damaging	Het
Pramel23	G	T	4: 143,424,590 (GRCm39)	C284*	probably null	Het
Ptger2	T	A	14: 45,226,439 (GRCm39)	N6K	possibly damaging	Het
Ryr1	T	A	7: 28,778,205 (GRCm39)	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,786,868 (GRCm39)	F397Y	probably damaging	Het
Skint5	A	G	4: 113,685,064 (GRCm39)	V551A	unknown	Het
Slc39a12	A	G	2: 14,405,142 (GRCm39)	T245A	probably benign	Het
Syne1	C	T	10: 5,308,438 (GRCm39)	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,411,855 (GRCm39)	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,760,854 (GRCm39)	T187I	probably benign	Het
Ttll6	G	A	11: 96,045,582 (GRCm39)	A600T	probably benign	Het
Ust	T	C	10: 8,123,844 (GRCm39)		probably benign	Het
Vmn2r71	GT	GTT	7: 85,268,426 (GRCm39)		probably null	Het
Vstm2a	C	T	11: 16,213,041 (GRCm39)	A142V	probably damaging	Het
Wfs1	T	A	5: 37,131,066 (GRCm39)		probably benign	Het
Wrap73	G	A	4: 154,236,106 (GRCm39)	G145D	probably damaging	Het
Wrap73	G	A	4: 154,240,611 (GRCm39)	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,524,352 (GRCm39)		probably null	Het
Zfhx2	C	T	14: 55,301,547 (GRCm39)	V2146I	probably benign	Het
Zfp335	A	T	2: 164,749,842 (GRCm39)	L185*	probably null	Het

Other mutations in Kbtbd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Kbtbd4	APN	2	90,736,252 (GRCm39)	missense	probably damaging	1.00
R0306:Kbtbd4	UTSW	2	90,744,530 (GRCm39)	unclassified	probably benign
R0666:Kbtbd4	UTSW	2	90,744,459 (GRCm39)	unclassified	probably benign
R1935:Kbtbd4	UTSW	2	90,737,895 (GRCm39)	missense	probably damaging	0.99
R4207:Kbtbd4	UTSW	2	90,740,099 (GRCm39)	missense	probably damaging	0.99
R5658:Kbtbd4	UTSW	2	90,736,423 (GRCm39)	missense	probably benign	0.09
R5977:Kbtbd4	UTSW	2	90,736,487 (GRCm39)	missense	probably benign	0.39
R6546:Kbtbd4	UTSW	2	90,739,635 (GRCm39)	missense	probably damaging	1.00
R6653:Kbtbd4	UTSW	2	90,740,113 (GRCm39)	nonsense	probably null
R6714:Kbtbd4	UTSW	2	90,736,183 (GRCm39)	unclassified	probably benign
R7690:Kbtbd4	UTSW	2	90,736,240 (GRCm39)	missense	possibly damaging	0.69
R8090:Kbtbd4	UTSW	2	90,736,183 (GRCm39)	unclassified	probably benign
R9089:Kbtbd4	UTSW	2	90,737,909 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GCATCTGATGATGGATACCAAGCATACA -3'
(R):5'- CCGACTCCCCAGTTCTTAGTAACTTCAA -3'

Sequencing Primer
(F):5'- catgtggtatacagatatatgcagac -3'
(R):5'- acacacacacacacacgg -3'

Posted On

2013-06-12