Mutagenetix > Incidental Mutation

Incidental Mutation 'R9299:Zbtb48'

704779

Institutional Source

Beutler Lab

Gene Symbol

Zbtb48

Ensembl Gene

ENSMUSG00000028952

Gene Name

zinc finger and BTB domain containing 48

Synonyms

0610011D15Rik, Hkr3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9299 (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 152105147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 505 (N505S)

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

possibly damaging
Transcript: ENSMUST00000066715
AA Change: N505S

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952
AA Change: N505S

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

silent
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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	T	9: 57,163,792 (GRCm39)	R861S	possibly damaging	Het
Abca12	T	A	1: 71,359,042 (GRCm39)	N588I	possibly damaging	Het
Adamts9	A	G	6: 92,773,976 (GRCm39)	Y1727H	probably benign	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Alad	C	T	4: 62,429,760 (GRCm39)		probably null	Het
Anapc15-ps	C	A	10: 95,509,077 (GRCm39)	D68Y	probably damaging	Het
Arhgap45	T	C	10: 79,862,565 (GRCm39)	S645P	possibly damaging	Het
Atp9a	A	T	2: 168,554,666 (GRCm39)	M1K	probably null	Het
B020004C17Rik	A	T	14: 57,254,230 (GRCm39)	I118F	probably damaging	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Cdc42bpa	C	A	1: 179,972,073 (GRCm39)	L1292I	probably damaging	Het
Clec2e	A	C	6: 129,072,092 (GRCm39)	F96V	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Cyp4a10	A	G	4: 115,376,947 (GRCm39)	M104V	probably benign	Het
Cyth1	C	T	11: 118,059,837 (GRCm39)		probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Dpcd	C	A	19: 45,566,009 (GRCm39)	Q203K	probably damaging	Het
Dph1	T	A	11: 75,070,622 (GRCm39)	Q339L	possibly damaging	Het
Dpy19l3	G	T	7: 35,424,752 (GRCm39)	S187*	probably null	Het
Eva1a	G	T	6: 82,069,047 (GRCm39)	A125S	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Frem2	T	C	3: 53,563,980 (GRCm39)	T176A	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm12888	G	A	4: 121,182,044 (GRCm39)	S16F	unknown	Het
Hsf5	T	A	11: 87,526,770 (GRCm39)	C481S	probably benign	Het
Ifi211	T	A	1: 173,735,288 (GRCm39)	Q47L	probably damaging	Het
Il17re	A	T	6: 113,440,971 (GRCm39)	M202L	probably benign	Het
Krtap5-3	T	A	7: 141,756,267 (GRCm39)	H175Q	unknown	Het
Ksr2	G	A	5: 117,885,399 (GRCm39)		probably null	Het
Lrtm1	C	T	14: 28,743,714 (GRCm39)	P61S	probably damaging	Het
Ltk	A	T	2: 119,584,721 (GRCm39)	S487R	possibly damaging	Het
Mis18bp1	A	T	12: 65,185,538 (GRCm39)	D876E	possibly damaging	Het
Nalf1	T	C	8: 9,820,156 (GRCm39)	Y288C	probably damaging	Het
Or8b39	A	G	9: 37,996,785 (GRCm39)	T218A	probably benign	Het
Paqr7	A	G	4: 134,234,311 (GRCm39)	N56S	probably benign	Het
Pcdhb22	G	T	18: 37,651,885 (GRCm39)	E118*	probably null	Het
Pcdhb4	G	A	18: 37,442,264 (GRCm39)	A525T	probably benign	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Pla2g4e	T	A	2: 120,002,204 (GRCm39)	D617V	probably damaging	Het
Plekha1	T	A	7: 130,511,348 (GRCm39)	C311S	possibly damaging	Het
Poteg	A	G	8: 27,940,287 (GRCm39)	Y156C	probably benign	Het
Rev3l	T	C	10: 39,723,999 (GRCm39)	S2644P	probably damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Slc6a21	T	C	7: 44,937,130 (GRCm39)	V252A		Het
Slx9	C	A	10: 77,351,535 (GRCm39)	A14S	possibly damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
St6galnac6	G	T	2: 32,502,345 (GRCm39)	R78L	probably benign	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Tep1	T	C	14: 51,081,988 (GRCm39)		probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Thsd7a	A	G	6: 12,504,131 (GRCm39)	F341S		Het
Tmem82	A	T	4: 141,343,861 (GRCm39)	C136*	probably null	Het
Tmprss11a	A	T	5: 86,570,361 (GRCm39)	C199*	probably null	Het
Zfp385b	A	T	2: 77,246,115 (GRCm39)	V304E	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
R8842:Zbtb48	UTSW	4	152,104,496 (GRCm39)	missense	probably benign	0.18
R9326:Zbtb48	UTSW	4	152,111,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCAGGCCCACTATTCTC -3'
(R):5'- TATGTCTGTGAGTTCTGCAGCC -3'

Sequencing Primer
(F):5'- AGGCCCACTATTCTCCTACAG -3'
(R):5'- GCCATGCCTTCACCCAG -3'

Posted On

2022-03-25