Incidental Mutation 'R0393:Zbtb40'
ID 31783
Institutional Source Beutler Lab
Gene Symbol Zbtb40
Ensembl Gene ENSMUSG00000060862
Gene Name zinc finger and BTB domain containing 40
Synonyms
MMRRC Submission 038599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R0393 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 136707043-136776112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 136745842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 64 (S64A)
Ref Sequence ENSEMBL: ENSMUSP00000061899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049583]
AlphaFold Q6PCS8
Predicted Effect probably benign
Transcript: ENSMUST00000049583
AA Change: S64A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: S64A

DomainStartEndE-ValueType
low complexity region 8 14 N/A INTRINSIC
BTB 24 117 3.39e-18 SMART
low complexity region 150 170 N/A INTRINSIC
low complexity region 525 533 N/A INTRINSIC
low complexity region 725 741 N/A INTRINSIC
ZnF_C2H2 754 774 4.86e1 SMART
low complexity region 786 801 N/A INTRINSIC
ZnF_C2H2 825 848 1.16e-1 SMART
ZnF_C2H2 854 876 1.1e-2 SMART
ZnF_C2H2 882 905 1.16e-1 SMART
ZnF_C2H2 911 933 1.2e-3 SMART
ZnF_C2H2 939 962 8.81e-2 SMART
ZnF_C2H2 969 992 7.05e-1 SMART
ZnF_C2H2 997 1019 1.47e-3 SMART
ZnF_C2H2 1025 1047 2.86e-1 SMART
ZnF_C2H2 1065 1088 6.67e-2 SMART
ZnF_C2H2 1094 1117 6.23e-2 SMART
ZnF_C2H2 1123 1146 1.53e-1 SMART
ZnF_C2H2 1154 1177 1.56e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145505
Meta Mutation Damage Score 0.4523 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,591,604 (GRCm39) probably benign Het
Akr1b7 T G 6: 34,392,335 (GRCm39) Y49* probably null Het
Ankrd10 G T 8: 11,685,482 (GRCm39) R46S possibly damaging Het
Atp13a5 A G 16: 29,085,681 (GRCm39) probably benign Het
Baz1a A G 12: 54,965,221 (GRCm39) probably null Het
Bicd2 C T 13: 49,533,346 (GRCm39) T644M probably damaging Het
Ccr9 A T 9: 123,609,035 (GRCm39) H239L probably benign Het
Cd180 A T 13: 102,842,408 (GRCm39) N485Y probably damaging Het
Ces1d T A 8: 93,919,400 (GRCm39) S131C probably damaging Het
Cnpy2 T A 10: 128,162,076 (GRCm39) S116R probably benign Het
Crym T C 7: 119,788,972 (GRCm39) K285R probably benign Het
Cyp2a4 A T 7: 26,012,293 (GRCm39) I359F possibly damaging Het
Cyp2b10 T A 7: 25,614,359 (GRCm39) probably benign Het
Dcpp3 A T 17: 24,136,925 (GRCm39) probably benign Het
Dnah8 T A 17: 30,927,364 (GRCm39) I1340K probably benign Het
Fbln1 T C 15: 85,111,277 (GRCm39) C144R probably damaging Het
Gm1553 T C 10: 82,328,010 (GRCm39) R66G unknown Het
Il10rb G A 16: 91,208,898 (GRCm39) V103I probably benign Het
Irak1bp1 T A 9: 82,728,614 (GRCm39) W182R probably benign Het
Kcna3 T C 3: 106,944,315 (GRCm39) S193P probably damaging Het
Kif14 C T 1: 136,410,156 (GRCm39) H628Y probably damaging Het
Krt31 A G 11: 99,941,079 (GRCm39) L77P probably damaging Het
Krt36 C T 11: 99,994,940 (GRCm39) A211T possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lmo7 A G 14: 102,137,892 (GRCm39) T743A probably benign Het
Lyst C T 13: 13,821,664 (GRCm39) T1346M probably benign Het
Mapkbp1 T A 2: 119,843,384 (GRCm39) probably null Het
Mif T C 10: 75,695,638 (GRCm39) D55G probably benign Het
Mlh3 G T 12: 85,314,361 (GRCm39) C608* probably null Het
Mlip A T 9: 77,146,859 (GRCm39) C85S probably benign Het
Mug1 T C 6: 121,826,809 (GRCm39) S211P possibly damaging Het
Mybl2 T A 2: 162,903,528 (GRCm39) probably benign Het
Myh8 C T 11: 67,196,843 (GRCm39) probably benign Het
Nanos1 A G 19: 60,745,368 (GRCm39) Y222C probably damaging Het
Or10ag52 A T 2: 87,044,037 (GRCm39) Y267F probably benign Het
Or2n1e G T 17: 38,585,774 (GRCm39) M37I probably benign Het
Or5d16 T C 2: 87,773,909 (GRCm39) D21G possibly damaging Het
Papolb A G 5: 142,515,211 (GRCm39) V144A probably damaging Het
Pctp A G 11: 89,876,945 (GRCm39) S185P probably benign Het
Plod1 A T 4: 148,003,298 (GRCm39) L509Q probably null Het
Ppp1r13b C A 12: 111,802,122 (GRCm39) M290I probably benign Het
Ralb G C 1: 119,405,856 (GRCm39) probably null Het
Rxylt1 T C 10: 121,931,841 (GRCm39) probably benign Het
Slc4a8 T A 15: 100,672,519 (GRCm39) D18E probably damaging Het
Speg A C 1: 75,400,568 (GRCm39) H2576P possibly damaging Het
Spock1 T C 13: 57,588,349 (GRCm39) D241G probably damaging Het
Tcam1 T A 11: 106,175,040 (GRCm39) V165E probably benign Het
Thbs1 T A 2: 117,943,472 (GRCm39) V30E possibly damaging Het
Tll2 A G 19: 41,077,265 (GRCm39) Y834H possibly damaging Het
Trpm6 G A 19: 18,756,008 (GRCm39) D84N probably damaging Het
Ubr1 T A 2: 120,737,427 (GRCm39) Q1039L probably damaging Het
Ubr4 A G 4: 139,138,171 (GRCm39) probably benign Het
Vmn1r74 T C 7: 11,581,242 (GRCm39) Y181H possibly damaging Het
Vmn2r13 T C 5: 109,304,395 (GRCm39) T679A probably benign Het
Vmn2r91 A T 17: 18,325,712 (GRCm39) Y110F probably damaging Het
Zfp184 T A 13: 22,131,252 (GRCm39) probably benign Het
Other mutations in Zbtb40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Zbtb40 APN 4 136,714,651 (GRCm39) missense probably damaging 0.99
IGL00573:Zbtb40 APN 4 136,745,389 (GRCm39) missense probably benign 0.00
IGL00774:Zbtb40 APN 4 136,721,835 (GRCm39) missense probably damaging 1.00
R0046:Zbtb40 UTSW 4 136,714,589 (GRCm39) missense probably damaging 1.00
R0046:Zbtb40 UTSW 4 136,714,589 (GRCm39) missense probably damaging 1.00
R0334:Zbtb40 UTSW 4 136,713,867 (GRCm39) missense probably damaging 1.00
R0482:Zbtb40 UTSW 4 136,710,539 (GRCm39) missense probably damaging 1.00
R1457:Zbtb40 UTSW 4 136,712,148 (GRCm39) missense possibly damaging 0.81
R1846:Zbtb40 UTSW 4 136,735,150 (GRCm39) missense probably benign 0.00
R2153:Zbtb40 UTSW 4 136,718,946 (GRCm39) missense probably damaging 1.00
R2206:Zbtb40 UTSW 4 136,744,596 (GRCm39) nonsense probably null
R2291:Zbtb40 UTSW 4 136,712,328 (GRCm39) missense possibly damaging 0.78
R2406:Zbtb40 UTSW 4 136,725,879 (GRCm39) missense probably benign 0.34
R3707:Zbtb40 UTSW 4 136,726,879 (GRCm39) missense probably damaging 1.00
R4131:Zbtb40 UTSW 4 136,722,707 (GRCm39) missense probably benign 0.00
R4243:Zbtb40 UTSW 4 136,745,860 (GRCm39) missense probably benign 0.00
R4424:Zbtb40 UTSW 4 136,726,005 (GRCm39) missense probably damaging 0.96
R4725:Zbtb40 UTSW 4 136,746,072 (GRCm39) utr 5 prime probably benign
R4784:Zbtb40 UTSW 4 136,734,408 (GRCm39) missense probably damaging 1.00
R4795:Zbtb40 UTSW 4 136,725,953 (GRCm39) missense probably benign 0.00
R4796:Zbtb40 UTSW 4 136,725,953 (GRCm39) missense probably benign 0.00
R4838:Zbtb40 UTSW 4 136,728,527 (GRCm39) missense probably benign 0.15
R4859:Zbtb40 UTSW 4 136,716,070 (GRCm39) missense probably damaging 0.98
R4883:Zbtb40 UTSW 4 136,728,241 (GRCm39) missense probably benign 0.09
R5001:Zbtb40 UTSW 4 136,723,461 (GRCm39) missense probably damaging 1.00
R5030:Zbtb40 UTSW 4 136,725,263 (GRCm39) missense probably benign 0.00
R5060:Zbtb40 UTSW 4 136,728,604 (GRCm39) missense possibly damaging 0.71
R5529:Zbtb40 UTSW 4 136,710,474 (GRCm39) missense possibly damaging 0.90
R5536:Zbtb40 UTSW 4 136,714,642 (GRCm39) missense probably damaging 1.00
R5589:Zbtb40 UTSW 4 136,722,594 (GRCm39) missense probably damaging 1.00
R6114:Zbtb40 UTSW 4 136,716,002 (GRCm39) missense probably damaging 1.00
R6393:Zbtb40 UTSW 4 136,712,177 (GRCm39) missense probably null
R7208:Zbtb40 UTSW 4 136,726,937 (GRCm39) splice site probably null
R7406:Zbtb40 UTSW 4 136,728,205 (GRCm39) missense probably benign 0.29
R7722:Zbtb40 UTSW 4 136,718,829 (GRCm39) missense probably damaging 0.98
R7803:Zbtb40 UTSW 4 136,744,638 (GRCm39) missense probably benign
R8292:Zbtb40 UTSW 4 136,726,878 (GRCm39) missense probably damaging 1.00
R8735:Zbtb40 UTSW 4 136,725,957 (GRCm39) missense probably damaging 1.00
R8890:Zbtb40 UTSW 4 136,725,897 (GRCm39) missense probably damaging 1.00
R9003:Zbtb40 UTSW 4 136,745,904 (GRCm39) missense probably damaging 1.00
R9290:Zbtb40 UTSW 4 136,745,529 (GRCm39) missense probably benign 0.00
R9328:Zbtb40 UTSW 4 136,745,620 (GRCm39) missense probably benign 0.00
RF014:Zbtb40 UTSW 4 136,744,617 (GRCm39) missense probably benign 0.20
Z1176:Zbtb40 UTSW 4 136,722,774 (GRCm39) missense probably damaging 1.00
Z1177:Zbtb40 UTSW 4 136,745,335 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCAGTTTACCAGGTTGGTCAGAAGG -3'
(R):5'- AGCAACACTCATGGATGGATGGATG -3'

Sequencing Primer
(F):5'- GGTTTTTACAACTAACGGCCAC -3'
(R):5'- gatggatggatggatggatgg -3'
Posted On 2013-04-24