Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Zbtb48'

168213

Institutional Source

Beutler Lab

Gene Symbol

Zbtb48

Ensembl Gene

ENSMUSG00000028952

Gene Name

zinc finger and BTB domain containing 48

Synonyms

0610011D15Rik, Hkr3

MMRRC Submission

039562-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1515 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

152019774-152027671 bp(-) (GRCm38)

Type of Mutation

splice site (2521 bp from exon)

DNA Base Change (assembly)

A to G at 152020201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066715] [ENSMUST00000097773] [ENSMUST00000155389] [ENSMUST00000156748]

AlphaFold

Q1H9T6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066715
AA Change: F580L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952
AA Change: F580L

Domain	Start	End	E-Value	Type
BTB	26	119	1.35e-21	SMART
ZnF_C2H2	284	306	1.64e-1	SMART
ZnF_C2H2	312	332	2.06e1	SMART
ZnF_C2H2	343	365	5.99e-4	SMART
ZnF_C2H2	371	394	9.58e-3	SMART
ZnF_C2H2	400	423	2.49e-1	SMART
ZnF_C2H2	429	452	2.57e-3	SMART
ZnF_C2H2	458	480	9.73e-4	SMART
ZnF_C2H2	486	508	3.21e-4	SMART
ZnF_C2H2	514	537	1.67e-2	SMART
ZnF_C2H2	543	565	1.95e-3	SMART
ZnF_C2H2	571	593	5.67e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000097773

SMART Domains

Protein: ENSMUSP00000095380
Gene: ENSMUSG00000073700

Domain	Start	End	E-Value	Type
BTB	35	133	2.4e-27	SMART
BACK	138	239	3.93e-27	SMART
Kelch	287	334	1.08e0	SMART
Kelch	336	382	1.3e-7	SMART
Kelch	383	422	5.88e-1	SMART
Kelch	464	512	2.97e-1	SMART
Kelch	513	560	6.57e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147895

Predicted Effect

probably benign
Transcript: ENSMUST00000155389

SMART Domains

Protein: ENSMUSP00000114726
Gene: ENSMUSG00000028952

Domain	Start	End	E-Value	Type
BTB	26	119	1.35e-21	SMART
ZnF_C2H2	284	306	1.64e-1	SMART
ZnF_C2H2	312	332	2.06e1	SMART
ZnF_C2H2	343	365	5.99e-4	SMART
ZnF_C2H2	371	394	9.58e-3	SMART
low complexity region	403	418	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155441

Predicted Effect

probably benign
Transcript: ENSMUST00000156748

SMART Domains

Protein: ENSMUSP00000117079
Gene: ENSMUSG00000028952

Domain	Start	End	E-Value	Type
ZnF_C2H2	80	102	1.64e-1	SMART
ZnF_C2H2	108	128	2.06e1	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,637,158	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC024139	A	G	15: 76,124,326	V350A	possibly damaging	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Crocc	T	C	4: 141,019,737	T1587A	probably benign	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Flii	T	C	11: 60,721,606		probably null	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Hells	A	G	19: 38,967,765	K802E	probably damaging	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,402,681	S652P	probably benign	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232	T323A	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr512	T	C	7: 108,713,941	V184A	possibly damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Txndc11	A	G	16: 11,075,062	S935P	probably damaging	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		probably benign	Het

Other mutations in Zbtb48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Zbtb48	APN	4	152021394	missense	probably damaging	0.99
IGL02709:Zbtb48	APN	4	152021394	missense	probably damaging	0.99
Etna	UTSW	4	152021607	missense	probably damaging	0.98
I0000:Zbtb48	UTSW	4	152019858	missense	probably benign	0.34
R1844:Zbtb48	UTSW	4	152026498	missense	probably benign
R2383:Zbtb48	UTSW	4	152026950	missense	probably damaging	0.96
R3618:Zbtb48	UTSW	4	152026027	splice site	probably null
R3619:Zbtb48	UTSW	4	152026027	splice site	probably null
R5427:Zbtb48	UTSW	4	152020651	missense	probably damaging	1.00
R5696:Zbtb48	UTSW	4	152020610	missense	probably damaging	0.99
R6155:Zbtb48	UTSW	4	152022038	splice site	probably null
R6157:Zbtb48	UTSW	4	152021607	missense	probably damaging	0.98
R6551:Zbtb48	UTSW	4	152022221	missense	probably benign	0.00
R8161:Zbtb48	UTSW	4	152022110	missense	probably damaging	0.99
R8252:Zbtb48	UTSW	4	152020887	missense	probably damaging	0.99
R8370:Zbtb48	UTSW	4	152021287	critical splice donor site	probably null
R8842:Zbtb48	UTSW	4	152020039	missense	probably benign	0.18
R9299:Zbtb48	UTSW	4	152020690	missense	possibly damaging	0.84
R9326:Zbtb48	UTSW	4	152027052	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGGACTCCACAATGACCTCAG -3'
(R):5'- CATGCTCCTCAGAACCTTCAGCAG -3'

Sequencing Primer
(F):5'- TGACCTCAGCAGAGCCC -3'
(R):5'- AGCTTCTGTGACAGCGTG -3'

Posted On

2014-04-13