Incidental Mutation 'R7304:Zbtb38'
ID 567171
Institutional Source Beutler Lab
Gene Symbol Zbtb38
Ensembl Gene ENSMUSG00000040433
Gene Name zinc finger and BTB domain containing 38
Synonyms A930014K01Rik, Zenon homolog, CIBZ
MMRRC Submission 045365-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.588) question?
Stock # R7304 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 96564820-96613728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96569480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 535 (S535P)
Ref Sequence ENSEMBL: ENSMUSP00000120040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093798] [ENSMUST00000126066] [ENSMUST00000128269] [ENSMUST00000140121] [ENSMUST00000152594]
AlphaFold Q3LR78
Predicted Effect probably damaging
Transcript: ENSMUST00000093798
AA Change: S535P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091315
Gene: ENSMUSG00000040433
AA Change: S535P

DomainStartEndE-ValueType
BTB 33 131 5.68e-20 SMART
low complexity region 140 151 N/A INTRINSIC
ZnF_C2H2 340 362 7.67e-2 SMART
ZnF_C2H2 369 396 7.29e0 SMART
low complexity region 435 446 N/A INTRINSIC
ZnF_C2H2 458 480 2.2e-2 SMART
ZnF_C2H2 486 508 1.05e1 SMART
ZnF_C2H2 514 537 8.09e-1 SMART
low complexity region 911 935 N/A INTRINSIC
low complexity region 994 1002 N/A INTRINSIC
ZnF_C2H2 1013 1035 3.63e-3 SMART
ZnF_C2H2 1041 1063 9.73e-4 SMART
ZnF_C2H2 1069 1091 1.45e-2 SMART
ZnF_C2H2 1097 1119 1.02e1 SMART
ZnF_C2H2 1128 1150 1.67e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126066
AA Change: S535P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114300
Gene: ENSMUSG00000040433
AA Change: S535P

DomainStartEndE-ValueType
BTB 33 131 5.68e-20 SMART
low complexity region 140 151 N/A INTRINSIC
ZnF_C2H2 340 362 7.67e-2 SMART
ZnF_C2H2 369 396 7.29e0 SMART
low complexity region 435 446 N/A INTRINSIC
ZnF_C2H2 458 480 2.2e-2 SMART
ZnF_C2H2 486 508 1.05e1 SMART
ZnF_C2H2 514 537 8.09e-1 SMART
low complexity region 911 926 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128269
SMART Domains Protein: ENSMUSP00000121871
Gene: ENSMUSG00000040433

DomainStartEndE-ValueType
BTB 33 131 5.68e-20 SMART
low complexity region 140 151 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140121
AA Change: S535P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120040
Gene: ENSMUSG00000040433
AA Change: S535P

DomainStartEndE-ValueType
BTB 33 131 5.68e-20 SMART
low complexity region 140 151 N/A INTRINSIC
ZnF_C2H2 340 362 7.67e-2 SMART
ZnF_C2H2 369 396 7.29e0 SMART
low complexity region 435 446 N/A INTRINSIC
ZnF_C2H2 458 480 2.2e-2 SMART
ZnF_C2H2 486 508 1.05e1 SMART
ZnF_C2H2 514 537 8.09e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152594
AA Change: S535P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121753
Gene: ENSMUSG00000040433
AA Change: S535P

DomainStartEndE-ValueType
BTB 33 131 5.68e-20 SMART
low complexity region 140 151 N/A INTRINSIC
ZnF_C2H2 340 362 7.67e-2 SMART
ZnF_C2H2 369 396 7.29e0 SMART
low complexity region 435 446 N/A INTRINSIC
ZnF_C2H2 458 480 2.2e-2 SMART
ZnF_C2H2 486 508 1.05e1 SMART
ZnF_C2H2 514 537 8.09e-1 SMART
low complexity region 911 935 N/A INTRINSIC
low complexity region 994 1002 N/A INTRINSIC
ZnF_C2H2 1013 1035 3.63e-3 SMART
ZnF_C2H2 1041 1063 9.73e-4 SMART
ZnF_C2H2 1069 1091 1.45e-2 SMART
ZnF_C2H2 1097 1119 1.02e1 SMART
ZnF_C2H2 1128 1150 1.67e-2 SMART
Meta Mutation Damage Score 0.1668 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,247,203 (GRCm39) S2317G probably benign Het
Acap2 A C 16: 30,926,934 (GRCm39) L502R probably benign Het
Amotl2 A G 9: 102,605,549 (GRCm39) E467G probably damaging Het
Apbb1ip A T 2: 22,743,147 (GRCm39) probably null Het
Armc9 C G 1: 86,090,437 (GRCm39) D77E probably benign Het
Art1 T A 7: 101,755,531 (GRCm39) S8T possibly damaging Het
Asic5 G A 3: 81,916,872 (GRCm39) A321T possibly damaging Het
Astn2 A G 4: 66,103,612 (GRCm39) I267T unknown Het
Bmp8a T C 4: 123,236,182 (GRCm39) N107S probably benign Het
Card14 T A 11: 119,228,573 (GRCm39) L633Q probably damaging Het
Chpf C T 1: 75,455,698 (GRCm39) V18M possibly damaging Het
Cog7 T C 7: 121,536,362 (GRCm39) I493V probably benign Het
Col3a1 A T 1: 45,386,971 (GRCm39) N1394I unknown Het
Crybg1 C T 10: 43,873,254 (GRCm39) D1285N probably benign Het
Depdc7 A G 2: 104,553,463 (GRCm39) V395A possibly damaging Het
Dido1 G A 2: 180,329,286 (GRCm39) L379F probably damaging Het
Dnajc13 G T 9: 104,115,713 (GRCm39) T32N probably benign Het
Dok2 T A 14: 71,013,468 (GRCm39) S133R probably benign Het
Ehbp1l1 C T 19: 5,766,410 (GRCm39) R1311H probably damaging Het
Gm3099 A T 14: 15,346,488 (GRCm39) N118I probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Heg1 G A 16: 33,581,160 (GRCm39) A13T possibly damaging Het
Ifi209 A T 1: 173,470,156 (GRCm39) Y248F possibly damaging Het
Irag1 T C 7: 110,498,931 (GRCm39) T367A possibly damaging Het
Itgb3bp C G 4: 99,657,758 (GRCm39) E169Q probably damaging Het
Kcna2 A G 3: 107,012,066 (GRCm39) T216A probably benign Het
Kcnj6 A T 16: 94,742,042 (GRCm39) M10K probably benign Het
Krt17 T G 11: 100,148,163 (GRCm39) Q397P probably benign Het
Lrtm1 T A 14: 28,744,075 (GRCm39) M181K probably damaging Het
Map3k5 A G 10: 19,975,301 (GRCm39) H741R probably damaging Het
Mier1 T A 4: 102,996,599 (GRCm39) Y120* probably null Het
Myh14 T A 7: 44,279,415 (GRCm39) T922S probably benign Het
Nfkbie A T 17: 45,871,067 (GRCm39) I240F possibly damaging Het
Npas3 C A 12: 54,115,824 (GRCm39) H915Q probably damaging Het
Nrg2 A T 18: 36,178,994 (GRCm39) V314E probably benign Het
Or2z9 T A 8: 72,854,190 (GRCm39) Y195* probably null Het
Pds5a T C 5: 65,777,077 (GRCm39) N28S probably damaging Het
Pira1 T C 7: 3,740,493 (GRCm39) T243A probably damaging Het
Pkhd1l1 A T 15: 44,361,878 (GRCm39) N517I possibly damaging Het
Plekhb1 T C 7: 100,294,874 (GRCm39) Y99C probably benign Het
Plpp6 T C 19: 28,941,617 (GRCm39) S73P probably benign Het
Polb T C 8: 23,129,975 (GRCm39) N199S probably benign Het
Ppp1r13b T C 12: 111,838,840 (GRCm39) N13D possibly damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Ptprn2 T A 12: 117,212,164 (GRCm39) V862D probably damaging Het
Rassf4 T C 6: 116,617,278 (GRCm39) I242M probably damaging Het
Rnf19a G A 15: 36,254,598 (GRCm39) T320I probably damaging Het
Sctr A T 1: 119,949,970 (GRCm39) E53V probably damaging Het
Srcin1 T C 11: 97,442,519 (GRCm39) D103G probably benign Het
St3gal3 T C 4: 117,814,633 (GRCm39) Q220R Het
Stk40 G A 4: 126,019,483 (GRCm39) E86K probably benign Het
Tas2r104 T A 6: 131,662,005 (GRCm39) I235F possibly damaging Het
Terf2ip T C 8: 112,738,280 (GRCm39) V56A possibly damaging Het
Thsd7b A G 1: 130,030,890 (GRCm39) N1075S probably benign Het
Trak1 A G 9: 121,245,278 (GRCm39) Y51C probably benign Het
Trav16n T A 14: 53,588,859 (GRCm39) V45E probably benign Het
Ttc6 T C 12: 57,622,837 (GRCm39) S79P probably damaging Het
Unc79 C T 12: 103,029,449 (GRCm39) T484M probably damaging Het
Usp49 T C 17: 47,983,796 (GRCm39) V267A possibly damaging Het
Vldlr T A 19: 27,216,004 (GRCm39) D305E possibly damaging Het
Vmn1r226 G T 17: 20,908,011 (GRCm39) C81F probably damaging Het
Vmn1r73 T C 7: 11,490,824 (GRCm39) V214A probably damaging Het
Vmn2r5 T C 3: 64,411,671 (GRCm39) N299S probably damaging Het
Vwa3b T C 1: 37,203,586 (GRCm39) L55S probably damaging Het
Wdr90 T C 17: 26,070,480 (GRCm39) D1105G probably benign Het
Zfp329 T C 7: 12,544,826 (GRCm39) I233V probably damaging Het
Zfp579 T A 7: 4,997,582 (GRCm39) T110S probably benign Het
Other mutations in Zbtb38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Zbtb38 APN 9 96,569,547 (GRCm39) missense probably damaging 1.00
IGL01895:Zbtb38 APN 9 96,570,461 (GRCm39) missense probably benign 0.00
IGL02513:Zbtb38 APN 9 96,569,126 (GRCm39) missense probably damaging 1.00
IGL02649:Zbtb38 APN 9 96,568,672 (GRCm39) missense probably damaging 0.96
IGL02938:Zbtb38 APN 9 96,569,227 (GRCm39) missense probably benign 0.11
PIT4131001:Zbtb38 UTSW 9 96,568,369 (GRCm39) missense probably damaging 1.00
R0048:Zbtb38 UTSW 9 96,569,729 (GRCm39) missense probably damaging 1.00
R0152:Zbtb38 UTSW 9 96,568,333 (GRCm39) missense probably damaging 1.00
R0158:Zbtb38 UTSW 9 96,568,993 (GRCm39) missense possibly damaging 0.46
R0519:Zbtb38 UTSW 9 96,567,826 (GRCm39) missense probably damaging 1.00
R0594:Zbtb38 UTSW 9 96,568,007 (GRCm39) missense probably damaging 1.00
R1556:Zbtb38 UTSW 9 96,569,044 (GRCm39) missense probably benign 0.26
R1698:Zbtb38 UTSW 9 96,567,515 (GRCm39) missense probably benign
R1772:Zbtb38 UTSW 9 96,570,094 (GRCm39) missense probably damaging 1.00
R1799:Zbtb38 UTSW 9 96,570,934 (GRCm39) missense probably damaging 1.00
R1837:Zbtb38 UTSW 9 96,569,048 (GRCm39) missense probably benign
R2446:Zbtb38 UTSW 9 96,569,699 (GRCm39) missense probably damaging 1.00
R3153:Zbtb38 UTSW 9 96,570,302 (GRCm39) missense probably benign 0.34
R3950:Zbtb38 UTSW 9 96,569,599 (GRCm39) missense probably damaging 1.00
R4240:Zbtb38 UTSW 9 96,568,155 (GRCm39) small deletion probably benign
R4630:Zbtb38 UTSW 9 96,570,904 (GRCm39) missense probably damaging 1.00
R4666:Zbtb38 UTSW 9 96,570,436 (GRCm39) missense probably damaging 1.00
R4732:Zbtb38 UTSW 9 96,569,737 (GRCm39) missense probably damaging 1.00
R4733:Zbtb38 UTSW 9 96,569,737 (GRCm39) missense probably damaging 1.00
R4824:Zbtb38 UTSW 9 96,570,254 (GRCm39) missense probably benign 0.06
R5006:Zbtb38 UTSW 9 96,567,704 (GRCm39) missense probably damaging 1.00
R5109:Zbtb38 UTSW 9 96,569,062 (GRCm39) missense probably damaging 0.99
R5251:Zbtb38 UTSW 9 96,569,161 (GRCm39) missense probably benign 0.43
R5396:Zbtb38 UTSW 9 96,569,696 (GRCm39) missense probably damaging 1.00
R5659:Zbtb38 UTSW 9 96,569,473 (GRCm39) missense probably damaging 1.00
R6249:Zbtb38 UTSW 9 96,568,045 (GRCm39) missense probably damaging 0.99
R6294:Zbtb38 UTSW 9 96,569,282 (GRCm39) missense probably benign 0.05
R6615:Zbtb38 UTSW 9 96,568,707 (GRCm39) nonsense probably null
R6625:Zbtb38 UTSW 9 96,569,366 (GRCm39) missense probably damaging 1.00
R6885:Zbtb38 UTSW 9 96,568,517 (GRCm39) missense probably damaging 1.00
R7675:Zbtb38 UTSW 9 96,567,594 (GRCm39) missense probably benign 0.00
R7823:Zbtb38 UTSW 9 96,568,029 (GRCm39) nonsense probably null
R7900:Zbtb38 UTSW 9 96,570,989 (GRCm39) missense probably damaging 1.00
R8077:Zbtb38 UTSW 9 96,570,153 (GRCm39) missense probably benign
R8432:Zbtb38 UTSW 9 96,568,291 (GRCm39) missense possibly damaging 0.68
R8802:Zbtb38 UTSW 9 96,567,623 (GRCm39) missense probably benign 0.13
R8930:Zbtb38 UTSW 9 96,568,434 (GRCm39) missense probably benign 0.04
R8932:Zbtb38 UTSW 9 96,568,434 (GRCm39) missense probably benign 0.04
R9008:Zbtb38 UTSW 9 96,569,100 (GRCm39) missense probably benign
R9347:Zbtb38 UTSW 9 96,567,649 (GRCm39) missense probably damaging 0.99
R9520:Zbtb38 UTSW 9 96,568,104 (GRCm39) missense probably damaging 0.99
R9568:Zbtb38 UTSW 9 96,570,944 (GRCm39) missense probably damaging 1.00
R9680:Zbtb38 UTSW 9 96,570,397 (GRCm39) missense probably benign 0.03
R9777:Zbtb38 UTSW 9 96,570,356 (GRCm39) missense probably damaging 0.96
R9777:Zbtb38 UTSW 9 96,570,355 (GRCm39) missense possibly damaging 0.49
R9790:Zbtb38 UTSW 9 96,570,700 (GRCm39) missense probably damaging 1.00
R9791:Zbtb38 UTSW 9 96,570,700 (GRCm39) missense probably damaging 1.00
X0066:Zbtb38 UTSW 9 96,569,665 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGCTTTGCAGATTCGGAAC -3'
(R):5'- GCGGCATGCAAATGTTCACTC -3'

Sequencing Primer
(F):5'- ACGTATCAGGGGCAGATTCACC -3'
(R):5'- CATGCAAATGTTCACTCGTGGAG -3'
Posted On 2019-06-26