Incidental Mutation 'R2203:Zbtb47'
ID 238841
Institutional Source Beutler Lab
Gene Symbol Zbtb47
Ensembl Gene ENSMUSG00000013419
Gene Name zinc finger and BTB domain containing 47
Synonyms 4732420M22Rik, Zfp651
MMRRC Submission 040205-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R2203 (G1)
Quality Score 163
Status Not validated
Chromosome 9
Chromosomal Location 121588396-121600808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121591703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 8 (T8A)
Ref Sequence ENSEMBL: ENSMUSP00000091286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093772]
AlphaFold E9PZ11
Predicted Effect possibly damaging
Transcript: ENSMUST00000093772
AA Change: T8A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091286
Gene: ENSMUSG00000013419
AA Change: T8A

DomainStartEndE-ValueType
BTB 45 141 3.69e-19 SMART
low complexity region 159 164 N/A INTRINSIC
low complexity region 197 210 N/A INTRINSIC
low complexity region 217 231 N/A INTRINSIC
low complexity region 302 339 N/A INTRINSIC
low complexity region 355 372 N/A INTRINSIC
ZnF_C2H2 447 470 1.28e-3 SMART
ZnF_C2H2 474 494 8.4e1 SMART
ZnF_C2H2 501 524 1.76e-1 SMART
ZnF_C2H2 531 553 3.34e-2 SMART
ZnF_C2H2 559 581 6.78e-3 SMART
ZnF_C2H2 587 609 3.63e-3 SMART
ZnF_C2H2 615 637 1.95e-3 SMART
ZnF_C2H2 643 665 6.62e-6 SMART
ZnF_C2H2 671 698 4.16e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213743
Predicted Effect probably benign
Transcript: ENSMUST00000214732
AA Change: T43A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216791
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Abcc5 C G 16: 20,224,632 (GRCm39) L44F possibly damaging Het
Abi3bp T G 16: 56,433,566 (GRCm39) L550R probably benign Het
Brca2 T A 5: 150,462,967 (GRCm39) D910E possibly damaging Het
Cacna1h C T 17: 25,599,234 (GRCm39) A1742T probably damaging Het
Cartpt A T 13: 100,037,133 (GRCm39) S4T probably benign Het
Ccdc66 T A 14: 27,208,790 (GRCm39) D488V probably benign Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Cfap45 T C 1: 172,359,728 (GRCm39) V76A probably benign Het
Clptm1 G T 7: 19,367,817 (GRCm39) F598L possibly damaging Het
Cntrl G A 2: 35,033,749 (GRCm39) V257I possibly damaging Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Crebbp A C 16: 3,956,641 (GRCm39) M394R possibly damaging Het
Ctnnd1 A G 2: 84,447,024 (GRCm39) L407P probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fam184a T A 10: 53,528,530 (GRCm39) Q29L probably damaging Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Gapdh A T 6: 125,139,569 (GRCm39) S165T probably benign Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Grik4 T A 9: 42,458,951 (GRCm39) S596C probably damaging Het
Gtf2e1 T A 16: 37,331,904 (GRCm39) E390D possibly damaging Het
Hmgcr A G 13: 96,793,141 (GRCm39) L497P probably damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Htr5b T C 1: 121,455,693 (GRCm39) T76A probably damaging Het
Iars1 A G 13: 49,876,151 (GRCm39) E812G probably benign Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Jmjd1c A G 10: 67,075,242 (GRCm39) probably null Het
Kcnj5 T C 9: 32,234,196 (GRCm39) T40A probably benign Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Map2k2 T C 10: 80,955,213 (GRCm39) S14P probably damaging Het
Med26 T C 8: 73,249,746 (GRCm39) E451G probably damaging Het
Nbeal1 T A 1: 60,323,165 (GRCm39) M2081K probably benign Het
Nectin4 G A 1: 171,213,797 (GRCm39) V433M possibly damaging Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Pbrm1 A G 14: 30,754,406 (GRCm39) D142G possibly damaging Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Pkd1 G T 17: 24,799,863 (GRCm39) A591S probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Rabep1 A C 11: 70,825,400 (GRCm39) E689A probably damaging Het
Ralgapa1 T C 12: 55,659,585 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Saxo1 A C 4: 86,363,998 (GRCm39) Y162D probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l2 A T 8: 126,218,366 (GRCm39) W324R probably damaging Het
Slc19a1 T C 10: 76,877,758 (GRCm39) C98R possibly damaging Het
Slc26a8 G T 17: 28,866,981 (GRCm39) L583I probably benign Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Ttc39a A G 4: 109,288,785 (GRCm39) N293S probably benign Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Vmn2r104 A T 17: 20,250,083 (GRCm39) N729K probably benign Het
Zfp712 T A 13: 67,190,048 (GRCm39) T160S probably benign Het
Other mutations in Zbtb47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01913:Zbtb47 APN 9 121,593,035 (GRCm39) missense probably damaging 1.00
R0193:Zbtb47 UTSW 9 121,596,732 (GRCm39) missense probably damaging 0.98
R0270:Zbtb47 UTSW 9 121,596,641 (GRCm39) missense probably benign 0.27
R0347:Zbtb47 UTSW 9 121,592,168 (GRCm39) missense probably damaging 1.00
R0654:Zbtb47 UTSW 9 121,592,327 (GRCm39) missense probably benign 0.01
R2202:Zbtb47 UTSW 9 121,591,703 (GRCm39) missense possibly damaging 0.53
R2204:Zbtb47 UTSW 9 121,591,703 (GRCm39) missense possibly damaging 0.53
R2205:Zbtb47 UTSW 9 121,591,703 (GRCm39) missense possibly damaging 0.53
R2364:Zbtb47 UTSW 9 121,596,660 (GRCm39) missense probably damaging 0.98
R3843:Zbtb47 UTSW 9 121,592,499 (GRCm39) missense possibly damaging 0.86
R4275:Zbtb47 UTSW 9 121,595,605 (GRCm39) missense probably damaging 1.00
R4934:Zbtb47 UTSW 9 121,593,045 (GRCm39) missense probably damaging 0.99
R5358:Zbtb47 UTSW 9 121,594,661 (GRCm39) missense probably damaging 1.00
R5462:Zbtb47 UTSW 9 121,596,729 (GRCm39) missense probably damaging 0.99
R5613:Zbtb47 UTSW 9 121,596,585 (GRCm39) missense probably damaging 1.00
R5843:Zbtb47 UTSW 9 121,596,405 (GRCm39) missense possibly damaging 0.47
R5863:Zbtb47 UTSW 9 121,596,596 (GRCm39) missense probably benign 0.22
R6009:Zbtb47 UTSW 9 121,591,937 (GRCm39) missense possibly damaging 0.86
R6063:Zbtb47 UTSW 9 121,592,598 (GRCm39) missense probably benign 0.01
R6114:Zbtb47 UTSW 9 121,594,661 (GRCm39) missense probably damaging 1.00
R6223:Zbtb47 UTSW 9 121,592,853 (GRCm39) missense possibly damaging 0.61
R6414:Zbtb47 UTSW 9 121,592,725 (GRCm39) missense probably benign
R6811:Zbtb47 UTSW 9 121,595,595 (GRCm39) missense probably damaging 1.00
R7394:Zbtb47 UTSW 9 121,596,411 (GRCm39) missense probably damaging 0.98
R7430:Zbtb47 UTSW 9 121,592,732 (GRCm39) missense probably benign 0.02
R8215:Zbtb47 UTSW 9 121,596,344 (GRCm39) missense probably benign 0.40
R8900:Zbtb47 UTSW 9 121,596,705 (GRCm39) missense probably damaging 0.99
R8982:Zbtb47 UTSW 9 121,592,334 (GRCm39) missense probably benign 0.26
R9623:Zbtb47 UTSW 9 121,591,990 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTAGTGTGTGCACAGAGGAAG -3'
(R):5'- TGGAAGAACTGGCTGTAGGC -3'

Sequencing Primer
(F):5'- ACAGGTCCCAGGACATCGTAG -3'
(R):5'- CGGCCAGCACACCCTTG -3'
Posted On 2014-10-02