Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Zbtb18'

452470

Institutional Source

Beutler Lab

Gene Symbol

Zbtb18

Ensembl Gene

ENSMUSG00000063659

Gene Name

zinc finger and BTB domain containing 18

Synonyms

RP58, Zfp238

MMRRC Submission

043344-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

177269917-177278330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 177276119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 484 (H484R)

Ref Sequence

ENSEMBL: ENSMUSP00000141724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077225] [ENSMUST00000094276] [ENSMUST00000192699] [ENSMUST00000192851] [ENSMUST00000193440] [ENSMUST00000193480] [ENSMUST00000195612] [ENSMUST00000194319] [ENSMUST00000195002] [ENSMUST00000195549] [ENSMUST00000195388]

AlphaFold

Q9WUK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000077225
AA Change: H484R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076463
Gene: ENSMUSG00000063659
AA Change: H484R

Domain	Start	End	E-Value	Type
BTB	24	121	2.55e-22	SMART
ZnF_C2H2	370	392	1.28e-3	SMART
ZnF_C2H2	410	432	1.01e-1	SMART
ZnF_C2H2	438	460	9.58e-3	SMART
ZnF_C2H2	466	489	1.18e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000094276
AA Change: H493R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091831
Gene: ENSMUSG00000063659
AA Change: H493R

Domain	Start	End	E-Value	Type
BTB	33	130	2.55e-22	SMART
ZnF_C2H2	379	401	1.28e-3	SMART
ZnF_C2H2	419	441	1.01e-1	SMART
ZnF_C2H2	447	469	9.58e-3	SMART
ZnF_C2H2	475	498	1.18e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192699

Predicted Effect

probably benign
Transcript: ENSMUST00000192851

SMART Domains

Protein: ENSMUSP00000142256
Gene: ENSMUSG00000063659

Domain	Start	End	E-Value	Type
BTB	24	121	1.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193440

SMART Domains

Protein: ENSMUSP00000141337
Gene: ENSMUSG00000063659

Domain	Start	End	E-Value	Type
BTB	24	121	1.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193480

SMART Domains

Protein: ENSMUSP00000141663
Gene: ENSMUSG00000063659

Domain	Start	End	E-Value	Type
BTB	33	130	1.6e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194269

Predicted Effect

probably damaging
Transcript: ENSMUST00000195612
AA Change: H484R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141724
Gene: ENSMUSG00000063659
AA Change: H484R

Domain	Start	End	E-Value	Type
BTB	24	121	2.55e-22	SMART
ZnF_C2H2	370	392	1.28e-3	SMART
ZnF_C2H2	410	432	1.01e-1	SMART
ZnF_C2H2	438	460	9.58e-3	SMART
ZnF_C2H2	466	489	1.18e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194319

Predicted Effect

probably benign
Transcript: ENSMUST00000195002

Predicted Effect

probably benign
Transcript: ENSMUST00000195549

SMART Domains

Protein: ENSMUSP00000142073
Gene: ENSMUSG00000063659

Domain	Start	End	E-Value	Type
BTB	24	121	1.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195388

SMART Domains

Protein: ENSMUSP00000141694
Gene: ENSMUSG00000063659

Domain	Start	End	E-Value	Type
BTB	24	121	1.6e-24	SMART

Meta Mutation Damage Score

0.9590

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, cortical and hippocampal hypoplasia and laminar disorganization, and abnormal neuron apoptosis and cell cycling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,835,832 (GRCm39)	K254E	probably damaging	Het
Aak1	C	T	6: 86,902,106 (GRCm39)	Q92*	probably null	Het
Acss3	T	C	10: 106,959,183 (GRCm39)	T88A	possibly damaging	Het
Adcy4	A	T	14: 56,021,118 (GRCm39)	S6R	probably damaging	Het
Aldh1l2	T	C	10: 83,348,170 (GRCm39)	E311G	possibly damaging	Het
Arhgap25	C	T	6: 87,440,441 (GRCm39)	S402N	probably benign	Het
Btn1a1	T	A	13: 23,643,522 (GRCm39)	D309V	probably damaging	Het
Cdh23	C	T	10: 60,243,259 (GRCm39)	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,529,285 (GRCm39)		probably benign	Het
Cln3	T	C	7: 126,174,673 (GRCm39)	T276A	probably null	Het
CN725425	A	G	15: 91,144,706 (GRCm39)	E523G	possibly damaging	Het
Crppa	T	C	12: 36,597,829 (GRCm39)	V320A	probably damaging	Het
Cspg4	A	T	9: 56,793,188 (GRCm39)	T308S	probably damaging	Het
Dgkh	G	T	14: 78,862,342 (GRCm39)	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,273,613 (GRCm39)	D846G	probably damaging	Het
Fmo4	A	G	1: 162,635,828 (GRCm39)		probably null	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Fxr2	T	C	11: 69,524,172 (GRCm39)	V10A	probably benign	Het
Gm10271	T	C	10: 116,792,792 (GRCm39)		probably null	Het
Gsk3b	T	C	16: 38,028,498 (GRCm39)		probably benign	Het
Ift43	T	A	12: 86,208,957 (GRCm39)	D169E	probably damaging	Het
Ift57	T	A	16: 49,519,861 (GRCm39)	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,860,294 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,339,491 (GRCm39)	D1140G	probably damaging	Het
Map1a	G	A	2: 121,135,546 (GRCm39)	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,401,362 (GRCm39)	G611C	probably damaging	Het
Mical1	A	G	10: 41,359,692 (GRCm39)		probably benign	Het
Myh14	A	G	7: 44,292,886 (GRCm39)		probably null	Het
Myh8	T	A	11: 67,185,392 (GRCm39)	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,459,420 (GRCm39)	Q817K	probably benign	Het
Nin	A	C	12: 70,124,953 (GRCm39)	V123G	probably damaging	Het
Nup160	A	G	2: 90,548,195 (GRCm39)	D976G	probably damaging	Het
Nup210l	A	T	3: 90,036,514 (GRCm39)		probably null	Het
Or5an1c	A	G	19: 12,218,644 (GRCm39)	I127T	probably damaging	Het
Phf14	T	C	6: 11,933,537 (GRCm39)		probably benign	Het
Podxl2	T	C	6: 88,825,721 (GRCm39)	D400G	probably damaging	Het
Pygl	C	T	12: 70,237,916 (GRCm39)	W707*	probably null	Het
Rnf19b	T	C	4: 128,965,685 (GRCm39)	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,307,284 (GRCm39)	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,362,913 (GRCm39)	R569H	probably damaging	Het
Sdk2	A	G	11: 113,742,626 (GRCm39)	L761P	probably damaging	Het
Shroom3	C	T	5: 93,090,864 (GRCm39)	P1124S	probably benign	Het
Sirt4	A	G	5: 115,617,705 (GRCm39)	V317A	probably benign	Het
Skic3	T	C	13: 76,266,466 (GRCm39)	Y238H	probably damaging	Het
Slc12a2	G	T	18: 58,029,426 (GRCm39)	A271S	probably benign	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Snap23	T	A	2: 120,414,752 (GRCm39)		probably benign	Het
Sra1	C	T	18: 36,803,226 (GRCm39)		probably benign	Het
Srbd1	C	T	17: 86,428,157 (GRCm39)	D359N	possibly damaging	Het
Srp19	A	G	18: 34,464,826 (GRCm39)	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,238,003 (GRCm39)	S205P	probably damaging	Het
Sv2b	T	C	7: 74,773,962 (GRCm39)	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,103,479 (GRCm39)	V518M	probably damaging	Het
Tlr4	A	G	4: 66,758,652 (GRCm39)	K482E	probably benign	Het
Tpm1	G	A	9: 66,930,694 (GRCm39)	L310F	probably damaging	Het
Trpm6	A	G	19: 18,830,981 (GRCm39)	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,742,757 (GRCm39)	L65*	probably null	Het
Ttc39c	C	A	18: 12,830,992 (GRCm39)	A284D	probably damaging	Het
Txndc16	G	A	14: 45,403,221 (GRCm39)	H297Y	probably benign	Het
Utrn	A	T	10: 12,545,550 (GRCm39)	D1698E	probably benign	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,365,486 (GRCm39)	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,208,315 (GRCm39)	V721I	probably damaging	Het
Zc3h13	T	A	14: 75,568,269 (GRCm39)	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,468,381 (GRCm39)	D2846E	probably benign	Het

Other mutations in Zbtb18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Zbtb18	APN	1	177,275,549 (GRCm39)	missense	probably benign	0.01
IGL01967:Zbtb18	APN	1	177,275,348 (GRCm39)	missense	probably benign	0.25
PIT4434001:Zbtb18	UTSW	1	177,275,989 (GRCm39)	missense	possibly damaging	0.93
R0085:Zbtb18	UTSW	1	177,275,501 (GRCm39)	missense	probably benign	0.00
R0119:Zbtb18	UTSW	1	177,275,723 (GRCm39)	missense	probably benign	0.05
R0309:Zbtb18	UTSW	1	177,276,182 (GRCm39)	missense	probably damaging	0.99
R1614:Zbtb18	UTSW	1	177,274,736 (GRCm39)	missense	probably damaging	1.00
R1660:Zbtb18	UTSW	1	177,275,329 (GRCm39)	missense	probably benign	0.05
R1676:Zbtb18	UTSW	1	177,274,913 (GRCm39)	splice site	probably null
R1750:Zbtb18	UTSW	1	177,275,077 (GRCm39)	missense	possibly damaging	0.95
R2365:Zbtb18	UTSW	1	177,275,723 (GRCm39)	missense	probably benign	0.05
R4282:Zbtb18	UTSW	1	177,275,045 (GRCm39)	missense	probably damaging	1.00
R4497:Zbtb18	UTSW	1	177,274,687 (GRCm39)	missense	probably damaging	1.00
R4542:Zbtb18	UTSW	1	177,276,232 (GRCm39)	missense	probably damaging	0.99
R4678:Zbtb18	UTSW	1	177,275,285 (GRCm39)	missense	probably benign	0.04
R5450:Zbtb18	UTSW	1	177,274,771 (GRCm39)	missense	probably damaging	1.00
R5828:Zbtb18	UTSW	1	177,275,446 (GRCm39)	missense	probably damaging	0.98
R5879:Zbtb18	UTSW	1	177,275,936 (GRCm39)	missense	probably damaging	1.00
R6379:Zbtb18	UTSW	1	177,275,141 (GRCm39)	missense	probably damaging	0.99
R6641:Zbtb18	UTSW	1	177,275,609 (GRCm39)	missense	probably damaging	0.98
R7088:Zbtb18	UTSW	1	177,274,820 (GRCm39)	missense	probably damaging	1.00
R7779:Zbtb18	UTSW	1	177,274,505 (GRCm39)	intron	probably benign
R8255:Zbtb18	UTSW	1	177,275,003 (GRCm39)	missense	probably damaging	1.00
R8868:Zbtb18	UTSW	1	177,274,682 (GRCm39)	missense	probably benign	0.01
R8895:Zbtb18	UTSW	1	177,276,044 (GRCm39)	missense	probably damaging	1.00
R9494:Zbtb18	UTSW	1	177,275,648 (GRCm39)	missense	probably benign	0.01
R9606:Zbtb18	UTSW	1	177,274,989 (GRCm39)	nonsense	probably null
R9610:Zbtb18	UTSW	1	177,275,341 (GRCm39)	missense	probably null	0.99
Z1177:Zbtb18	UTSW	1	177,275,381 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCATGTACACCCTCAAGCG -3'
(R):5'- ACTGCTTTTAGACCGTACCACAAC -3'

Sequencing Primer
(F):5'- GCCACGAGAGGACTCACTC -3'
(R):5'- TTAGACCGTACCACAACTATATAGAG -3'

Posted On

2017-01-03