Incidental Mutation 'R9347:Zbtb38'
ID 707863
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.588) question?
Stock # R9347 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 96564820-96613728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96567649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1145 (M1145K)
Ref Sequence ENSEMBL: ENSMUSP00000091315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093798] [ENSMUST00000126066] [ENSMUST00000128269] [ENSMUST00000140121] [ENSMUST00000152594]
AlphaFold Q3LR78
Predicted Effect probably damaging
Transcript: ENSMUST00000093798
AA Change: M1145K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091315
Gene: ENSMUSG00000040433
AA Change: M1145K

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 benign
Transcript: ENSMUST00000126066
SMART Domains Protein: ENSMUSP00000114300
Gene: ENSMUSG00000040433

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 benign
Transcript: ENSMUST00000140121
SMART Domains Protein: ENSMUSP00000120040
Gene: ENSMUSG00000040433

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: M1145K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121753
Gene: ENSMUSG00000040433
AA Change: M1145K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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
Abca17 A T 17: 24,483,479 (GRCm39) M1659K probably benign Het
Ace C A 11: 105,864,958 (GRCm39) Q544K probably damaging Het
Agpat4 A G 17: 12,429,168 (GRCm39) E140G possibly damaging Het
Akap12 A G 10: 4,303,640 (GRCm39) D150G probably benign Het
Akap6 A G 12: 53,115,894 (GRCm39) Y999C probably damaging Het
Ank1 A G 8: 23,607,076 (GRCm39) I1326V possibly damaging Het
Apold1 T A 6: 134,960,999 (GRCm39) L151Q probably damaging Het
Bmal1 A G 7: 112,898,487 (GRCm39) D305G possibly damaging Het
Brsk2 A G 7: 141,552,133 (GRCm39) S564G probably damaging Het
Ceacam18 T C 7: 43,294,915 (GRCm39) V325A possibly damaging Het
Clstn2 T C 9: 97,464,654 (GRCm39) Y167C probably damaging Het
Cyp11a1 G T 9: 57,928,141 (GRCm39) V324L possibly damaging Het
Ddx27 A G 2: 166,861,950 (GRCm39) T151A possibly damaging Het
Dhrs4 A G 14: 55,727,306 (GRCm39) I252M possibly damaging Het
Dlg2 A G 7: 91,360,900 (GRCm39) D6G probably benign Het
Dnah8 G A 17: 30,927,333 (GRCm39) E1330K probably benign Het
Ehd3 A G 17: 74,137,391 (GRCm39) E520G probably benign Het
Epha5 A G 5: 84,479,731 (GRCm39) V91A possibly damaging Het
Fam20c C A 5: 138,743,676 (GRCm39) H237Q probably benign Het
Fam217a C T 13: 35,094,662 (GRCm39) G366S probably damaging Het
Fancf T C 7: 51,511,359 (GRCm39) E215G probably benign Het
Fermt3 A T 19: 6,980,664 (GRCm39) I301N probably damaging Het
Fyco1 A T 9: 123,660,350 (GRCm39) probably null Het
Gen1 T C 12: 11,311,068 (GRCm39) N55D probably damaging Het
Gm20604 A T 12: 102,709,636 (GRCm39) C75S unknown Het
Gm3045 T A 13: 56,578,160 (GRCm39) V199D unknown Het
Gm49368 A G 7: 127,712,178 (GRCm39) T805A possibly damaging Het
Hgf T C 5: 16,809,921 (GRCm39) probably null Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Ift140 A G 17: 25,313,753 (GRCm39) M1395V probably benign Het
Il17rc T G 6: 113,457,780 (GRCm39) probably null Het
Kansl1l T A 1: 66,840,347 (GRCm39) T318S probably benign Het
Kcnc1 A T 7: 46,077,034 (GRCm39) N279Y probably damaging Het
Khdrbs2 T A 1: 32,511,828 (GRCm39) H264Q probably benign Het
Klf12 A G 14: 100,260,144 (GRCm39) V195A possibly damaging Het
Lhfpl2 A G 13: 94,328,539 (GRCm39) E200G probably damaging Het
Lmna T C 3: 88,393,548 (GRCm39) D300G probably damaging Het
Lrif1 A G 3: 106,641,674 (GRCm39) T17A possibly damaging Het
Mdm1 A G 10: 117,982,523 (GRCm39) I53V probably damaging Het
Mga T A 2: 119,733,518 (GRCm39) I122N probably damaging Het
Mos A G 4: 3,871,763 (GRCm39) S18P probably benign Het
Mterf3 C T 13: 67,062,852 (GRCm39) V295I possibly damaging Het
Muc16 G A 9: 18,571,511 (GRCm39) T336I unknown Het
Myo15a T C 11: 60,374,555 (GRCm39) S136P Het
Nav3 T A 10: 109,738,955 (GRCm39) I128F probably damaging Het
Nphs1 A G 7: 30,170,594 (GRCm39) D928G probably damaging Het
Or52z15 A G 7: 103,332,464 (GRCm39) I180V probably damaging Het
Or5b114-ps1 A T 19: 13,352,553 (GRCm39) T76S possibly damaging Het
Or5m13b T A 2: 85,753,819 (GRCm39) V69E probably damaging Het
Or5p70 A G 7: 107,995,259 (GRCm39) K311E probably benign Het
Or8u10 T C 2: 85,915,911 (GRCm39) D70G possibly damaging Het
Parvb T C 15: 84,155,523 (GRCm39) probably null Het
Patj A C 4: 98,576,484 (GRCm39) E574A probably benign Het
Ppp2r1a A G 17: 21,181,877 (GRCm39) N465S probably benign Het
Pramel34 T A 5: 93,786,697 (GRCm39) E24V probably damaging Het
Senp6 A G 9: 80,046,379 (GRCm39) K950E possibly damaging Het
Septin12 T C 16: 4,805,481 (GRCm39) H304R probably damaging Het
Septin3 T C 15: 82,167,914 (GRCm39) V110A probably damaging Het
Slc25a35 G T 11: 68,862,076 (GRCm39) V170L probably benign Het
Slco3a1 A T 7: 73,934,153 (GRCm39) L673Q possibly damaging Het
Smim35 A G 9: 45,154,271 (GRCm39) N44S possibly damaging Het
Tcp1 A G 17: 13,136,687 (GRCm39) M23V probably benign Het
Thg1l T C 11: 45,845,288 (GRCm39) probably benign Het
Tiam2 G A 17: 3,471,923 (GRCm39) E522K probably benign Het
Tie1 G A 4: 118,341,867 (GRCm39) T194I possibly damaging Het
Vmn2r49 T A 7: 9,718,674 (GRCm39) E463D probably benign Het
Wdr1 C A 5: 38,697,355 (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
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
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
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'- CTGTTGTTGTCACTCAAAGGACG -3'
(R):5'- TCATCTGTCAGTATTGTAACAAGGC -3'

Sequencing Primer
(F):5'- GTCACTCAAAGGACGTTTTCAGC -3'
(R):5'- TTGTAACAAGGCATTCACACTC -3'
Posted On 2022-04-18