Incidental Mutation 'R5044:Zbtb8a'
ID394243
Institutional Source Beutler Lab
Gene Symbol Zbtb8a
Ensembl Gene ENSMUSG00000028807
Gene Namezinc finger and BTB domain containing 8a
Synonyms
MMRRC Submission 042634-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.314) question?
Stock #R5044 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location129353628-129378116 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 129360500 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 67 (T67M)
Ref Sequence ENSEMBL: ENSMUSP00000030610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030610]
Predicted Effect probably damaging
Transcript: ENSMUST00000030610
AA Change: T67M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030610
Gene: ENSMUSG00000028807
AA Change: T67M

DomainStartEndE-ValueType
BTB 24 122 2.49e-25 SMART
ZnF_C2H2 275 297 2.2e-2 SMART
ZnF_C2H2 303 326 4.17e-3 SMART
low complexity region 422 428 N/A INTRINSIC
Meta Mutation Damage Score 0.076 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 96% (73/76)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,373,323 F3387I possibly damaging Het
Acacb T A 5: 114,166,027 S170R probably benign Het
Adamtsl4 A G 3: 95,681,650 probably null Het
Adgrv1 A G 13: 81,488,931 C3464R probably benign Het
Apbb1 A T 7: 105,565,682 probably benign Het
Cad A G 5: 31,055,021 T23A probably benign Het
Cdca7 A G 2: 72,483,415 R183G probably benign Het
Cdpf1 T C 15: 85,809,312 T5A probably benign Het
Cep85 T C 4: 134,156,179 D133G probably damaging Het
Chrna9 T C 5: 65,971,016 L189P probably damaging Het
Clca1 A C 3: 145,007,928 probably null Het
Cntn1 G T 15: 92,242,995 V201F probably damaging Het
Col4a3 A G 1: 82,666,546 E352G unknown Het
Ddhd2 T C 8: 25,752,137 Y237C probably damaging Het
Dnah6 A C 6: 73,037,622 F3609V probably benign Het
Epha3 T C 16: 63,602,287 K580R possibly damaging Het
Fam135b T C 15: 71,462,711 N878S probably benign Het
Fam71e2 T C 7: 4,758,661 N351D probably benign Het
Fbn1 T G 2: 125,329,102 T1938P probably damaging Het
Foxg1 T C 12: 49,385,186 V234A probably damaging Het
Glt1d1 A T 5: 127,644,414 N55I probably benign Het
Gm17641 C A 3: 68,869,474 probably benign Het
Gm7665 A G 18: 16,274,731 noncoding transcript Het
Hgf A C 5: 16,614,894 N541T probably benign Het
Hipk2 G A 6: 38,818,879 P152S probably benign Het
Jarid2 C T 13: 44,906,565 L720F probably damaging Het
Kifc5b A G 17: 26,924,787 E511G probably damaging Het
Ldlr G A 9: 21,735,242 A235T probably benign Het
Lmln A G 16: 33,074,180 D231G possibly damaging Het
Lrp1 A G 10: 127,567,495 C2070R probably damaging Het
Mbl1 A G 14: 41,158,724 T190A possibly damaging Het
Mpdz A T 4: 81,381,697 S355T probably benign Het
Muc19 C T 15: 91,888,138 noncoding transcript Het
Mycbp2 A C 14: 103,139,235 probably null Het
Naa20 T C 2: 145,915,842 S164P probably damaging Het
Nme4 A T 17: 26,093,833 probably benign Het
Npas2 A T 1: 39,347,506 R619* probably null Het
Nudt19 G A 7: 35,555,746 T20I possibly damaging Het
Olfr1224-ps1 T A 2: 89,156,939 K79* probably null Het
Olfr1447 A G 19: 12,901,001 Y260H probably damaging Het
Pitpnc1 A G 11: 107,296,228 Y90H possibly damaging Het
Rcor2 A G 19: 7,269,785 T6A probably benign Het
Rif1 T A 2: 52,109,928 S1131R probably damaging Het
Rtkn T A 6: 83,150,991 D377E probably benign Het
Rtn4rl2 T A 2: 84,872,502 N242I probably damaging Het
Sbno2 G A 10: 80,062,188 L719F probably benign Het
Scn11a G T 9: 119,819,831 D55E probably damaging Het
Setd1b T A 5: 123,151,866 I632N unknown Het
Spaca6 A G 17: 17,831,196 T45A probably benign Het
Srpk2 A T 5: 23,524,392 D416E possibly damaging Het
Sspo A T 6: 48,466,955 probably null Het
Sycp1 A T 3: 102,845,054 I804N probably benign Het
Tdp2 G A 13: 24,831,826 R32Q probably benign Het
Tgfbr3 A G 5: 107,136,929 V618A possibly damaging Het
Tmc3 C T 7: 83,609,118 P439S probably benign Het
Tnxb A T 17: 34,717,483 D2740V probably damaging Het
Tspyl4 A G 10: 34,297,937 T142A probably benign Het
Ttn T C 2: 76,880,441 probably benign Het
Tubgcp4 T C 2: 121,173,580 L34P probably damaging Het
Tubgcp6 G T 15: 89,099,545 probably benign Het
Unc79 T A 12: 103,112,703 V1690E probably benign Het
Vps4b T C 1: 106,796,418 probably null Het
Wtap A G 17: 12,967,638 S341P possibly damaging Het
Wwc1 T C 11: 35,883,345 T363A probably benign Het
Zfp865 T C 7: 5,034,669 probably benign Het
Other mutations in Zbtb8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:Zbtb8a APN 4 129357847 missense probably damaging 1.00
PIT4514001:Zbtb8a UTSW 4 129357730 missense probably benign 0.01
R1033:Zbtb8a UTSW 4 129354221 missense possibly damaging 0.82
R1183:Zbtb8a UTSW 4 129357727 missense possibly damaging 0.94
R1755:Zbtb8a UTSW 4 129354317 missense possibly damaging 0.71
R2426:Zbtb8a UTSW 4 129360219 missense probably benign 0.00
R2520:Zbtb8a UTSW 4 129359896 critical splice donor site probably null
R6357:Zbtb8a UTSW 4 129354299 missense probably benign
R7129:Zbtb8a UTSW 4 129360395 missense probably damaging 1.00
T0722:Zbtb8a UTSW 4 129360019 small insertion probably benign
T0722:Zbtb8a UTSW 4 129360212 missense probably benign
T0975:Zbtb8a UTSW 4 129360019 small insertion probably benign
T0975:Zbtb8a UTSW 4 129360212 missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAGCCAGTGTCCTTATCCGAG -3'
(R):5'- CCTCCTGCAGCAACTGAATG -3'

Sequencing Primer
(F):5'- CTTTCTCGCTAATGTCCAAGGAAGAC -3'
(R):5'- CCTGCAGCAACTGAATGAGCAG -3'
Posted On2016-06-15