Incidental Mutation 'R4630:Zbtb38'
ID 349123
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 041895-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.588) question?
Stock # R4630 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 96564820-96613728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 96570904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 60 (N60T)
Ref Sequence ENSEMBL: ENSMUSP00000114300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093798] [ENSMUST00000126066] [ENSMUST00000128269] [ENSMUST00000140121] [ENSMUST00000152594]
AlphaFold Q3LR78
Predicted Effect probably damaging
Transcript: ENSMUST00000093798
AA Change: N60T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091315
Gene: ENSMUSG00000040433
AA Change: N60T

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: N60T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114300
Gene: ENSMUSG00000040433
AA Change: N60T

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 damaging
Transcript: ENSMUST00000128269
AA Change: N60T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121871
Gene: ENSMUSG00000040433
AA Change: N60T

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: N60T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120040
Gene: ENSMUSG00000040433
AA Change: N60T

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: N60T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121753
Gene: ENSMUSG00000040433
AA Change: N60T

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 0.2136 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jag1 A T 2: 136,927,899 (GRCm39) D837E probably damaging Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pacs1 C T 19: 5,206,384 (GRCm39) probably null Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Rtkn A T 6: 83,129,163 (GRCm39) K540* probably null Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tlr4 A G 4: 66,757,477 (GRCm39) E90G probably benign Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp518a C T 19: 40,901,423 (GRCm39) Q451* probably null Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) probably null 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
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
R7304:Zbtb38 UTSW 9 96,569,480 (GRCm39) missense probably damaging 0.96
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'- TACGTAAGGACCTGGGGAATTTG -3'
(R):5'- ACAGTCATGTCCCTCTCCAG -3'

Sequencing Primer
(F):5'- GCGGTCACTAAGGTCTTCTAAGAATG -3'
(R):5'- AGGGACCTCAAGGACGACTTTC -3'
Posted On 2015-10-08