Mutagenetix > Incidental Mutation

Incidental Mutation 'R5427:Zbtb48'

426943

Institutional Source

Beutler Lab

Gene Symbol

Zbtb48

Ensembl Gene

ENSMUSG00000028952

Gene Name

zinc finger and BTB domain containing 48

Synonyms

0610011D15Rik, Hkr3

MMRRC Submission

042993-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5427 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152104231-152112128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152105108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 518 (F518S)

Ref Sequence

ENSEMBL: ENSMUSP00000067521 (fasta)

Gene Model

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

AlphaFold

Q1H9T6

PDB Structure

Solution structure of the tandem four zf-C2H2 domain repeats of murine GLI-Kruppel family member HKR3 [SOLUTION NMR]
Crystal structure of BTB domain from mouse HKR3 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066715
AA Change: F518S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952
AA Change: F518S

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 benign
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

Meta Mutation Damage Score

0.1234

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,248,385 (GRCm39)	V277A	possibly damaging	Het
Adcy7	G	A	8: 89,052,829 (GRCm39)		probably null	Het
Adgrg5	A	T	8: 95,661,730 (GRCm39)	D157V	probably benign	Het
Akap13	A	G	7: 75,378,617 (GRCm39)	N2090S	possibly damaging	Het
Alpi	T	C	1: 87,029,076 (GRCm39)	N33D	probably benign	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ankrd34a	G	A	3: 96,504,837 (GRCm39)	G14R	probably damaging	Het
Anp32a	A	G	9: 62,284,598 (GRCm39)		probably benign	Het
Atg4b	G	C	1: 93,702,928 (GRCm39)	K86N	probably damaging	Het
Bbx	T	C	16: 50,100,860 (GRCm39)	T12A	probably benign	Het
Catsperg2	T	C	7: 29,414,275 (GRCm39)	T377A	possibly damaging	Het
Ccdc158	T	C	5: 92,796,821 (GRCm39)	Q505R	probably damaging	Het
Cep135	T	A	5: 76,786,049 (GRCm39)	S1051T	probably benign	Het
Cryab	A	G	9: 50,667,593 (GRCm39)	D109G	probably damaging	Het
Crym	A	C	7: 119,798,445 (GRCm39)		probably benign	Het
Csf2rb2	T	A	15: 78,173,111 (GRCm39)	S250C	probably damaging	Het
Diaph1	A	T	18: 38,023,648 (GRCm39)	V730E	unknown	Het
Eci3	G	T	13: 35,143,931 (GRCm39)	L65M	possibly damaging	Het
Erg28	T	C	12: 85,866,341 (GRCm39)	N46D	probably damaging	Het
Fam89b	A	G	19: 5,778,819 (GRCm39)	S127P	probably benign	Het
Fign	A	G	2: 63,809,342 (GRCm39)	Y643H	probably damaging	Het
Galk2	T	C	2: 125,788,741 (GRCm39)	V265A	probably benign	Het
Gclm	T	C	3: 122,059,976 (GRCm39)	V252A	probably damaging	Het
Git2	A	G	5: 114,868,389 (GRCm39)	S584P	possibly damaging	Het
Iqcf3	T	C	9: 106,421,059 (GRCm39)		probably null	Het
Kcnk3	A	G	5: 30,779,639 (GRCm39)	T230A	possibly damaging	Het
Mettl25b	T	C	3: 87,831,639 (GRCm39)		probably benign	Het
Myh10	T	C	11: 68,693,757 (GRCm39)	L1486P	probably damaging	Het
Myom2	C	A	8: 15,163,764 (GRCm39)	A1006E	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nampt	A	T	12: 32,884,914 (GRCm39)	H111L	probably benign	Het
Nid1	A	G	13: 13,658,268 (GRCm39)	Y671C	probably damaging	Het
Npy5r	G	A	8: 67,133,672 (GRCm39)	R374C	probably damaging	Het
Or10ag54	A	T	2: 87,099,858 (GRCm39)	K244N	probably benign	Het
Or5b123	A	T	19: 13,596,714 (GRCm39)	S20C	probably benign	Het
Palld	C	T	8: 62,003,106 (GRCm39)	C720Y	probably benign	Het
Pcsk6	C	T	7: 65,683,647 (GRCm39)	T606M	probably benign	Het
Pfas	T	C	11: 68,891,979 (GRCm39)	I176M	possibly damaging	Het
Pi4kb	A	G	3: 94,901,518 (GRCm39)	D395G	probably benign	Het
Plod3	A	T	5: 137,020,642 (GRCm39)	Y547F	probably damaging	Het
Plscr1l1	G	A	9: 92,234,649 (GRCm39)	C128Y	probably benign	Het
Pnpo	T	C	11: 96,834,633 (GRCm39)	Y21C	probably benign	Het
Rgs1	A	T	1: 144,122,018 (GRCm39)	C118*	probably null	Het
Slc22a27	A	G	19: 7,856,753 (GRCm39)		probably null	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sppl2c	G	A	11: 104,078,693 (GRCm39)	V498I	probably benign	Het
Stim2	A	T	5: 54,268,281 (GRCm39)	I448F	possibly damaging	Het
Sulf1	A	T	1: 12,867,136 (GRCm39)	T107S	possibly damaging	Het
Tenm3	A	G	8: 48,689,599 (GRCm39)	V1996A	probably damaging	Het
Timm23	G	A	14: 31,911,103 (GRCm39)	T171I	possibly damaging	Het
Tssk2	A	G	16: 17,716,729 (GRCm39)	D44G	probably damaging	Het
Vmn2r28	A	T	7: 5,489,376 (GRCm39)	Y488N	probably damaging	Het
Zbed6	A	G	1: 133,585,333 (GRCm39)	V668A	possibly damaging	Het
Zfp709	A	G	8: 72,642,976 (GRCm39)	E135G	probably benign	Het
Zfp788	G	A	7: 41,299,076 (GRCm39)	V571I	possibly damaging	Het
Zfp963	A	G	8: 70,196,106 (GRCm39)	S116P	probably benign	Het

Other mutations in Zbtb48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Zbtb48	APN	4	152,105,851 (GRCm39)	missense	probably damaging	0.99
IGL02709:Zbtb48	APN	4	152,105,851 (GRCm39)	missense	probably damaging	0.99
Etna	UTSW	4	152,106,064 (GRCm39)	missense	probably damaging	0.98
I0000:Zbtb48	UTSW	4	152,104,315 (GRCm39)	missense	probably benign	0.34
R1515:Zbtb48	UTSW	4	152,104,658 (GRCm39)	splice site	probably null
R1844:Zbtb48	UTSW	4	152,110,955 (GRCm39)	missense	probably benign
R2383:Zbtb48	UTSW	4	152,111,407 (GRCm39)	missense	probably damaging	0.96
R3618:Zbtb48	UTSW	4	152,110,484 (GRCm39)	splice site	probably null
R3619:Zbtb48	UTSW	4	152,110,484 (GRCm39)	splice site	probably null
R5696:Zbtb48	UTSW	4	152,105,067 (GRCm39)	missense	probably damaging	0.99
R6155:Zbtb48	UTSW	4	152,106,495 (GRCm39)	splice site	probably null
R6157:Zbtb48	UTSW	4	152,106,064 (GRCm39)	missense	probably damaging	0.98
R6551:Zbtb48	UTSW	4	152,106,678 (GRCm39)	missense	probably benign	0.00
R8161:Zbtb48	UTSW	4	152,106,567 (GRCm39)	missense	probably damaging	0.99
R8252:Zbtb48	UTSW	4	152,105,344 (GRCm39)	missense	probably damaging	0.99
R8370:Zbtb48	UTSW	4	152,105,744 (GRCm39)	critical splice donor site	probably null
R8842:Zbtb48	UTSW	4	152,104,496 (GRCm39)	missense	probably benign	0.18
R9299:Zbtb48	UTSW	4	152,105,147 (GRCm39)	missense	possibly damaging	0.84
R9326:Zbtb48	UTSW	4	152,111,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGGTTCTGAGGAGCATGC -3'
(R):5'- AGAAGCCTTTCCAGTGCCAC -3'

Sequencing Primer
(F):5'- AAGCTACCGGTGCCCTTGATC -3'
(R):5'- ACCTCTGTGGGAAGACCTTC -3'

Posted On

2016-09-01