Incidental Mutation 'R4282:Zbtb18'
ID 322926
Institutional Source Beutler Lab
Gene Symbol Zbtb18
Ensembl Gene ENSMUSG00000063659
Gene Name zinc finger and BTB domain containing 18
Synonyms RP58, Zfp238
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4282 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 177269917-177278330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 177275045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 126 (D126G)
Ref Sequence ENSEMBL: ENSMUSP00000141337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077225] [ENSMUST00000094276] [ENSMUST00000192699] [ENSMUST00000192851] [ENSMUST00000193440] [ENSMUST00000195612] [ENSMUST00000193480] [ENSMUST00000195388] [ENSMUST00000195549] [ENSMUST00000195002] [ENSMUST00000194319]
AlphaFold Q9WUK6
Predicted Effect probably benign
Transcript: ENSMUST00000077225
AA Change: D126G

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076463
Gene: ENSMUSG00000063659
AA Change: D126G

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: D135G

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000091831
Gene: ENSMUSG00000063659
AA Change: D135G

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 noncoding transcript
Transcript: ENSMUST00000180591
Predicted Effect probably benign
Transcript: ENSMUST00000192699
Predicted Effect probably benign
Transcript: ENSMUST00000192851
AA Change: D126G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142256
Gene: ENSMUSG00000063659
AA Change: D126G

DomainStartEndE-ValueType
BTB 24 121 1.6e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000193440
AA Change: D126G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141337
Gene: ENSMUSG00000063659
AA Change: D126G

DomainStartEndE-ValueType
BTB 24 121 1.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195612
AA Change: D126G

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141724
Gene: ENSMUSG00000063659
AA Change: D126G

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: ENSMUST00000193480
AA Change: D135G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141663
Gene: ENSMUSG00000063659
AA Change: D135G

DomainStartEndE-ValueType
BTB 33 130 1.6e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195388
AA Change: D126G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141694
Gene: ENSMUSG00000063659
AA Change: D126G

DomainStartEndE-ValueType
BTB 24 121 1.6e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195549
AA Change: D126G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142073
Gene: ENSMUSG00000063659
AA Change: D126G

DomainStartEndE-ValueType
BTB 24 121 1.6e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194269
Predicted Effect probably benign
Transcript: ENSMUST00000195002
Predicted Effect probably benign
Transcript: ENSMUST00000194319
Meta Mutation Damage Score 0.1336 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably 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
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
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'- TTTACAAGGACCAGCTGGAC -3'
(R):5'- ATCGCATCCACATGTTCCCAG -3'

Sequencing Primer
(F):5'- TCTGAACAGCGACATTGTGAC -3'
(R):5'- ACATGTTCCCAGGCTCAGCTG -3'
Posted On 2015-06-20