Incidental Mutation 'R9494:Zbtb18'
ID 717087
Institutional Source Beutler Lab
Gene Symbol Zbtb18
Ensembl Gene ENSMUSG00000063659
Gene Name zinc finger and BTB domain containing 18
Synonyms RP58, Zfp238
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 177269917-177278330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 177275648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 327 (D327V)
Ref Sequence ENSEMBL: ENSMUSP00000141724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077225] [ENSMUST00000094276] [ENSMUST00000192699] [ENSMUST00000192851] [ENSMUST00000193440] [ENSMUST00000193480] [ENSMUST00000195612] [ENSMUST00000194319] [ENSMUST00000195002] [ENSMUST00000195388] [ENSMUST00000195549]
AlphaFold Q9WUK6
Predicted Effect probably benign
Transcript: ENSMUST00000077225
AA Change: D327V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000076463
Gene: ENSMUSG00000063659
AA Change: D327V

DomainStartEndE-ValueType
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: ENSMUST00000094276
AA Change: D336V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000091831
Gene: ENSMUSG00000063659
AA Change: D336V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
BTB 24 121 1.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193440
SMART Domains Protein: ENSMUSP00000141337
Gene: ENSMUSG00000063659

DomainStartEndE-ValueType
BTB 24 121 1.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193480
SMART Domains Protein: ENSMUSP00000141663
Gene: ENSMUSG00000063659

DomainStartEndE-ValueType
BTB 33 130 1.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195612
AA Change: D327V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000141724
Gene: ENSMUSG00000063659
AA Change: D327V

DomainStartEndE-ValueType
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: ENSMUST00000195388
SMART Domains Protein: ENSMUSP00000141694
Gene: ENSMUSG00000063659

DomainStartEndE-ValueType
BTB 24 121 1.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195549
SMART Domains Protein: ENSMUSP00000142073
Gene: ENSMUSG00000063659

DomainStartEndE-ValueType
BTB 24 121 1.6e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 T C 1: 59,206,664 (GRCm39) D1593G probably damaging Het
Atad2b C A 12: 5,081,852 (GRCm39) P1254T probably benign Het
Brsk2 C T 7: 141,555,955 (GRCm39) R716C possibly damaging Het
Bzw2 T A 12: 36,184,947 (GRCm39) M1L probably benign Het
Cd300ld2 T A 11: 114,901,249 (GRCm39) H277L possibly damaging Het
Col6a5 A T 9: 105,822,732 (GRCm39) D208E unknown Het
Cul3 T A 1: 80,255,169 (GRCm39) S544C probably damaging Het
Enpp1 C A 10: 24,527,234 (GRCm39) R651L probably benign Het
Epha10 C T 4: 124,808,649 (GRCm39) A766V Het
Epor A G 9: 21,870,522 (GRCm39) Y453H probably damaging Het
Fam13a T C 6: 58,930,508 (GRCm39) K468R probably benign Het
Ffar4 C T 19: 38,086,083 (GRCm39) A170V probably benign Het
Fhip1a A T 3: 85,583,565 (GRCm39) Y410* probably null Het
Gm10203 A G 6: 149,031,740 (GRCm39) Y15C unknown Het
Kansl1 T C 11: 104,247,566 (GRCm39) T595A probably benign Het
Lmtk2 A T 5: 144,037,338 (GRCm39) probably benign Het
Mybl2 G A 2: 162,917,843 (GRCm39) V69I possibly damaging Het
Myo1d T C 11: 80,375,093 (GRCm39) K994E probably benign Het
Or5p75-ps1 C A 7: 108,107,800 (GRCm39) T179K unknown Het
Pcdhga10 A T 18: 37,882,421 (GRCm39) R727S probably benign Het
Pgp T A 17: 24,689,809 (GRCm39) L109Q probably damaging Het
Piwil2 C T 14: 70,660,421 (GRCm39) G68D probably benign Het
Pms2 T A 5: 143,853,214 (GRCm39) I193N probably damaging Het
Pnpla7 T A 2: 24,942,390 (GRCm39) L1236* probably null Het
Pole2 A G 12: 69,249,731 (GRCm39) V489A possibly damaging Het
Rapgef2 G A 3: 79,019,495 (GRCm39) L59F probably damaging Het
Rnf32 T C 5: 29,429,145 (GRCm39) S241P probably damaging Het
Samd9l T A 6: 3,375,830 (GRCm39) K477I possibly damaging Het
Stn1 C T 19: 47,513,125 (GRCm39) probably null Het
Svep1 A G 4: 58,070,577 (GRCm39) V2403A possibly damaging Het
Synrg T C 11: 83,881,747 (GRCm39) M361T probably benign Het
Tbc1d2b A T 9: 90,152,563 (GRCm39) Y68N probably damaging Het
Tbc1d4 A T 14: 101,845,895 (GRCm39) M1K probably null Het
Thsd1 C T 8: 22,733,268 (GRCm39) P105L probably benign Het
Tnxb T C 17: 34,904,796 (GRCm39) L1187P probably damaging Het
Trio T C 15: 27,846,843 (GRCm39) T1057A probably benign Het
Tubg1 T C 11: 101,011,724 (GRCm39) I77T probably damaging Het
Txndc11 A G 16: 10,952,156 (GRCm39) L73P probably damaging Het
Uck1 G A 2: 32,148,179 (GRCm39) R182* probably null Het
Vangl1 T C 3: 102,070,665 (GRCm39) S424G probably damaging Het
Vmn2r69 A G 7: 85,056,084 (GRCm39) W685R probably benign Het
Vmn2r69 G A 7: 85,060,768 (GRCm39) S272L probably damaging Het
Zfp607b T C 7: 27,403,092 (GRCm39) F516S probably damaging Het
Zzz3 A G 3: 152,133,468 (GRCm39) I175M possibly damaging Het
Other mutations in Zbtb18
AlleleSourceChrCoordTypePredicted EffectPPH 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
R8895:Zbtb18 UTSW 1 177,276,044 (GRCm39) missense probably damaging 1.00
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'- AGCTCTTATTTCTCTTCACAGGACG -3'
(R):5'- TCAGGTGGATCTGCAGGATG -3'

Sequencing Primer
(F):5'- TCTCTTCACAGGACGTGCTGAG -3'
(R):5'- ATCTGCAGGATGTGGGGGC -3'
Posted On 2022-07-18