Mutagenetix > Incidental Mutation

Incidental Mutation 'R8895:Zbtb18'

677930

Institutional Source

Beutler Lab

Gene Symbol

Zbtb18

Ensembl Gene

ENSMUSG00000063659

Gene Name

zinc finger and BTB domain containing 18

Synonyms

RP58, Zfp238

MMRRC Submission

068754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8895 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

177269917-177278330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 177276044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 459 (V459E)

Ref Sequence

ENSEMBL: ENSMUSP00000141724 (fasta)

Gene Model

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

AlphaFold

Q9WUK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000077225
AA Change: V459E

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

SMART Domains

Protein: ENSMUSP00000076463
Gene: ENSMUSG00000063659
AA Change: V459E

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: V468E

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

SMART Domains

Protein: ENSMUSP00000091831
Gene: ENSMUSG00000063659
AA Change: V468E

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

probably benign
Transcript: ENSMUST00000194319

Predicted Effect

probably damaging
Transcript: ENSMUST00000195612
AA Change: V459E

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

SMART Domains

Protein: ENSMUSP00000141724
Gene: ENSMUSG00000063659
AA Change: V459E

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: ENSMUST00000195002

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	A	X: 69,437,994 (GRCm39)	R100W	possibly damaging	Het
Adamts10	G	A	17: 33,768,270 (GRCm39)	R814H	probably damaging	Het
Akr1a1	A	G	4: 116,498,260 (GRCm39)	L95P	probably damaging	Het
Amigo2	G	T	15: 97,143,389 (GRCm39)	N344K	probably damaging	Het
Ankrd11	T	C	8: 123,621,014 (GRCm39)	D946G	possibly damaging	Het
Arb2a	T	A	13: 78,147,773 (GRCm39)	N280K	probably damaging	Het
Btnl6	T	G	17: 34,734,391 (GRCm39)	I124L	probably benign	Het
Bzw2	A	T	12: 36,173,982 (GRCm39)	C97*	probably null	Het
Celsr2	G	A	3: 108,320,880 (GRCm39)	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,224,911 (GRCm39)	L226Q	possibly damaging	Het
Ces1g	T	C	8: 94,046,512 (GRCm39)	K338E	possibly damaging	Het
Cldn10	G	A	14: 119,092,507 (GRCm39)	D36N	probably damaging	Het
Cntnap4	T	A	8: 113,479,598 (GRCm39)	I261N	probably benign	Het
Csnk1g1	T	C	9: 65,915,109 (GRCm39)		probably null	Het
Cyp2c69	T	C	19: 39,869,910 (GRCm39)	D104G	possibly damaging	Het
Cyp3a11	T	C	5: 145,797,330 (GRCm39)	T350A	probably benign	Het
Daw1	T	A	1: 83,187,011 (GRCm39)	C274S	probably damaging	Het
Dmtn	T	C	14: 70,850,144 (GRCm39)	T267A	probably benign	Het
Dock5	A	G	14: 68,055,112 (GRCm39)	Y585H	possibly damaging	Het
Dsg2	T	G	18: 20,723,126 (GRCm39)	V384G	probably damaging	Het
Elmo1	C	T	13: 20,748,630 (GRCm39)	L492F	probably damaging	Het
Fmo1	T	C	1: 162,657,827 (GRCm39)	D438G	probably benign	Het
Folr2	C	T	7: 101,489,408 (GRCm39)	V244M	unknown	Het
Galnt18	T	C	7: 111,378,709 (GRCm39)	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,966,207 (GRCm39)	Y119*	probably null	Het
Gria4	A	G	9: 4,664,951 (GRCm39)	S102P	probably damaging	Het
Hc	A	T	2: 34,890,861 (GRCm39)	N1318K	probably benign	Het
Ifitm1	T	C	7: 140,549,499 (GRCm39)	L94P	probably damaging	Het
Iqca1l	T	C	5: 24,755,628 (GRCm39)	D298G	probably benign	Het
Itga9	G	A	9: 118,510,835 (GRCm39)	V455M	probably damaging	Het
Kank4	C	T	4: 98,653,747 (GRCm39)	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,785,100 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,352,953 (GRCm39)	T885A	possibly damaging	Het
Lamp5	A	G	2: 135,902,874 (GRCm39)	T198A	probably benign	Het
Ldc1	T	C	4: 130,105,223 (GRCm39)	K316E	probably benign	Het
Lipi	A	T	16: 75,352,710 (GRCm39)	L376I	probably benign	Het
Lrrc37	T	A	11: 103,509,656 (GRCm39)	T771S	unknown	Het
Luc7l	T	C	17: 26,472,978 (GRCm39)	I31T	possibly damaging	Het
Malrd1	A	T	2: 15,850,038 (GRCm39)	N1219I	unknown	Het
Mcf2l	C	T	8: 13,034,330 (GRCm39)		probably benign	Het
Mrc1	A	C	2: 14,312,760 (GRCm39)	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,793,271 (GRCm39)	A127T	possibly damaging	Het
Myom2	T	A	8: 15,152,589 (GRCm39)	Y645*	probably null	Het
Naip2	T	C	13: 100,325,644 (GRCm39)	H88R	probably benign	Het
Noc3l	T	A	19: 38,798,751 (GRCm39)	K282N	probably damaging	Het
Nwd2	T	C	5: 63,963,241 (GRCm39)	Y942H	probably damaging	Het
Or10ag2	T	C	2: 87,248,659 (GRCm39)	V87A	probably benign	Het
Or52d1	T	A	7: 103,756,302 (GRCm39)	I272N	probably damaging	Het
Osbpl9	C	A	4: 108,930,333 (GRCm39)	A221S	probably benign	Het
Paip1	T	C	13: 119,566,801 (GRCm39)	L45S	probably benign	Het
Peak1	T	C	9: 56,113,938 (GRCm39)	T1668A	probably benign	Het
Pgap3	A	G	11: 98,281,602 (GRCm39)	F199L	possibly damaging	Het
Ppip5k2	T	C	1: 97,639,544 (GRCm39)	M1061V	probably benign	Het
Ppp6r3	A	T	19: 3,544,017 (GRCm39)	W333R	probably damaging	Het
Ptk2b	T	A	14: 66,412,242 (GRCm39)	N383I	probably benign	Het
Rab21	G	C	10: 115,151,080 (GRCm39)	R58G	probably benign	Het
Rabif	C	T	1: 134,433,935 (GRCm39)	T83I	probably damaging	Het
Rdh7	A	T	10: 127,724,430 (GRCm39)	F18Y	probably benign	Het
Scart2	C	T	7: 139,841,532 (GRCm39)	P279S	possibly damaging	Het
Septin5	A	G	16: 18,441,861 (GRCm39)	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,715,306 (GRCm39)	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,607,293 (GRCm39)	M495L	probably benign	Het
Sntg1	T	A	1: 8,748,074 (GRCm39)		probably null	Het
Spred2	T	A	11: 19,951,019 (GRCm39)	I72N	probably benign	Het
St3gal1	A	T	15: 66,980,086 (GRCm39)	I271N	possibly damaging	Het
Stox1	A	T	10: 62,495,386 (GRCm39)	H962Q	probably benign	Het
Supt6	A	T	11: 78,103,664 (GRCm39)	M1347K	probably damaging	Het
Susd2	G	T	10: 75,475,452 (GRCm39)	A484D	possibly damaging	Het
Tmem260	A	G	14: 48,737,845 (GRCm39)		probably benign	Het
Tpbg	C	A	9: 85,726,520 (GRCm39)	A163E	possibly damaging	Het
Tpx2	T	C	2: 152,724,255 (GRCm39)	Y344H	probably damaging	Het
Ttf2	A	T	3: 100,870,028 (GRCm39)	F348L	probably benign	Het
Ttn	A	T	2: 76,663,650 (GRCm39)	V11675E	unknown	Het
Txnl4b	T	A	8: 110,299,467 (GRCm39)	Y142*	probably null	Het
Vmn2r18	G	A	5: 151,485,140 (GRCm39)	R785C	possibly damaging	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
R5726:Zbtb18	UTSW	1	177,276,119 (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
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'- ACATCCTGCAGATCCACCTGAG -3'
(R):5'- GCTATCTTCTAAGGTCCAGTCTCTG -3'

Sequencing Primer
(F):5'- ATGGCATCCGTAGCAAGC -3'
(R):5'- CTAAGGTCCAGTCTCTGACAGTG -3'

Posted On

2021-08-02