Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Kbtbd4'

318953

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd4

Ensembl Gene

ENSMUSG00000005505

Gene Name

kelch repeat and BTB (POZ) domain containing 4

Synonyms

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.415) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90904740-90911626 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90909755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 495 (F495L)

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 damaging
Transcript: ENSMUST00000090682
AA Change: F479L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088179
Gene: ENSMUSG00000005505
AA Change: F479L

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 damaging
Transcript: ENSMUST00000111464
AA Change: F495L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107089
Gene: ENSMUSG00000005505
AA Change: F495L

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: ENSMUST00000124284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155621

Meta Mutation Damage Score

0.1678

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	probably damaging	Het

Other mutations in Kbtbd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Kbtbd4	APN	2	90905908	missense	probably damaging	1.00
R0306:Kbtbd4	UTSW	2	90914186	unclassified	probably benign
R0533:Kbtbd4	UTSW	2	90907604	missense	probably benign	0.07
R0666:Kbtbd4	UTSW	2	90914115	unclassified	probably benign
R1935:Kbtbd4	UTSW	2	90907551	missense	probably damaging	0.99
R5658:Kbtbd4	UTSW	2	90906079	missense	probably benign	0.09
R5977:Kbtbd4	UTSW	2	90906143	missense	probably benign	0.39
R6546:Kbtbd4	UTSW	2	90909291	missense	probably damaging	1.00
R6653:Kbtbd4	UTSW	2	90909769	nonsense	probably null
R6714:Kbtbd4	UTSW	2	90905839	unclassified	probably benign
R7690:Kbtbd4	UTSW	2	90905896	missense	possibly damaging	0.69
R8090:Kbtbd4	UTSW	2	90905839	unclassified	probably benign
R9089:Kbtbd4	UTSW	2	90907565	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- ACTGACAAGTGCCACGTGAAG -3'
(R):5'- TTTGACTGGGGATACACCAC -3'

Sequencing Primer
(F):5'- ACGTGAAGCCCTACGTACTG -3'
(R):5'- TACACCACAAGGGGAGGGC -3'

Posted On

2015-06-10