Mutagenetix > Incidental Mutation

Incidental Mutation 'R8842:Zbtb48'

674468

Institutional Source

Beutler Lab

Gene Symbol

Zbtb48

Ensembl Gene

ENSMUSG00000028952

Gene Name

zinc finger and BTB domain containing 48

Synonyms

0610011D15Rik, Hkr3

MMRRC Submission

068669-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8842 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152104231-152112128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152104496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 611 (I611V)

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 benign
Transcript: ENSMUST00000066715
AA Change: I611V

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952
AA Change: I611V

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

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

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.1%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap17	G	A	7: 122,893,750 (GRCm39)	P557S	probably benign	Het
Atad5	G	T	11: 80,000,910 (GRCm39)	D1014Y	possibly damaging	Het
Bmp6	T	A	13: 38,530,359 (GRCm39)	S151T	probably benign	Het
Bmp6	C	T	13: 38,682,795 (GRCm39)	Q459*	probably null	Het
Ccdc39	A	G	3: 33,880,612 (GRCm39)	Y452H	probably damaging	Het
Cenpj	A	G	14: 56,780,329 (GRCm39)	Y961H	probably damaging	Het
Col6a6	A	T	9: 105,655,166 (GRCm39)	Y852N	probably damaging	Het
Cpne8	A	G	15: 90,456,218 (GRCm39)	I156T	probably benign	Het
Cul1	T	A	6: 47,492,010 (GRCm39)	L430Q	probably damaging	Het
Dhx30	A	G	9: 109,914,296 (GRCm39)	S1031P	probably benign	Het
Dhx9	A	T	1: 153,338,335 (GRCm39)	F774I	possibly damaging	Het
Fezf2	A	C	14: 12,345,079 (GRCm38)	M36R	probably damaging	Het
Gbp2b	A	T	3: 142,312,576 (GRCm39)	I320L	probably benign	Het
Gemin6	T	A	17: 80,533,115 (GRCm39)	V16D	possibly damaging	Het
Gpr158	T	A	2: 21,581,751 (GRCm39)	V410D	possibly damaging	Het
H2-DMb2	C	T	17: 34,366,904 (GRCm39)	T112M	probably damaging	Het
Hecw2	T	C	1: 53,990,033 (GRCm39)	T114A		Het
Herc2	G	T	7: 55,738,059 (GRCm39)	R234L	probably damaging	Het
Igsf11	A	G	16: 38,829,243 (GRCm39)	I46V	probably benign	Het
Izumo1r	C	T	9: 14,813,705 (GRCm39)	G38S	possibly damaging	Het
Katna1	A	G	10: 7,614,600 (GRCm39)	D36G	probably benign	Het
Kdm1b	G	T	13: 47,231,832 (GRCm39)	R697L	probably damaging	Het
Kif1b	T	A	4: 149,338,196 (GRCm39)	I483F	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrp1b	G	A	2: 41,158,417 (GRCm39)	T1714I		Het
Man2a2	A	G	7: 80,003,067 (GRCm39)	L1014P	probably damaging	Het
Marf1	T	C	16: 13,935,169 (GRCm39)	E1533G	probably damaging	Het
Mfsd2a	A	T	4: 122,845,623 (GRCm39)	I176N	probably damaging	Het
Mterf1b	T	A	5: 4,246,961 (GRCm39)	F201I	possibly damaging	Het
Neurod2	T	C	11: 98,218,507 (GRCm39)	E219G	probably damaging	Het
Nln	T	C	13: 104,209,486 (GRCm39)	E29G	probably benign	Het
Obscn	G	A	11: 58,892,861 (GRCm39)	T6795M	possibly damaging	Het
Or1e1c	G	T	11: 73,266,186 (GRCm39)	V207F	probably benign	Het
Or1i2	A	G	10: 78,447,635 (GRCm39)	V280A	possibly damaging	Het
Or1n1	C	A	2: 36,749,539 (GRCm39)	A274S	probably benign	Het
Or4c118	C	T	2: 88,975,074 (GRCm39)	V98I	probably benign	Het
Otog	A	T	7: 45,895,948 (GRCm39)	I138F	probably damaging	Het
Pdcd2l	G	A	7: 33,884,192 (GRCm39)	Q337*	probably null	Het
Ptprk	A	T	10: 28,442,497 (GRCm39)	N859I	probably damaging	Het
Pygl	G	T	12: 70,274,368 (GRCm39)		probably benign	Het
Sema4d	C	T	13: 51,863,018 (GRCm39)	A447T	probably benign	Het
Slc27a6	A	T	18: 58,712,888 (GRCm39)	S237C	probably benign	Het
Smarcc1	G	A	9: 110,051,199 (GRCm39)	M1006I	possibly damaging	Het
Sult2a2	G	T	7: 13,472,192 (GRCm39)	G130C	probably damaging	Het
Trpm7	T	A	2: 126,663,131 (GRCm39)	H1039L	probably benign	Het
Wdr64	T	G	1: 175,599,893 (GRCm39)	N573K	probably benign	Het
Zer1	T	C	2: 30,001,062 (GRCm39)	S120G	possibly damaging	Het
Zswim4	C	T	8: 84,940,699 (GRCm39)	R800Q	probably damaging	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
R5427:Zbtb48	UTSW	4	152,105,108 (GRCm39)	missense	probably damaging	1.00
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
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'- TCTACGTGTCACAGTCCTCG -3'
(R):5'- GAGAAAGTTCGAGTGCACCG -3'

Sequencing Primer
(F):5'- TGTCACAGTCCTCGGGAACAG -3'
(R):5'- ACCGAGTGTGGCTACAAGTTCAC -3'

Posted On

2021-07-15