Incidental Mutation 'R3770:Btbd7'
ID 273234
Institutional Source Beutler Lab
Gene Symbol Btbd7
Ensembl Gene ENSMUSG00000041702
Gene Name BTB domain containing 7
Synonyms 5730507E09Rik, FUP1, E130118E17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R3770 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 102747056-102844730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102761451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 578 (P578L)
Ref Sequence ENSEMBL: ENSMUSP00000152426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045652] [ENSMUST00000223554]
AlphaFold Q8CFE5
Predicted Effect probably damaging
Transcript: ENSMUST00000045652
AA Change: P578L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: P578L

DomainStartEndE-ValueType
BTB 142 244 1.57e-13 SMART
BTB 247 397 2.23e-4 SMART
BACK 402 538 1.49e-4 SMART
low complexity region 626 640 N/A INTRINSIC
low complexity region 756 771 N/A INTRINSIC
low complexity region 783 792 N/A INTRINSIC
low complexity region 808 822 N/A INTRINSIC
low complexity region 839 850 N/A INTRINSIC
low complexity region 1076 1088 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000223554
AA Change: P578L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T C 11: 116,065,213 (GRCm39) D578G probably damaging Het
Adgrb1 T A 15: 74,460,157 (GRCm39) I543N probably damaging Het
Agbl1 T C 7: 76,075,677 (GRCm39) probably null Het
Ano1 A G 7: 144,149,306 (GRCm39) Y852H probably damaging Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Atp1a1 T C 3: 101,488,510 (GRCm39) D842G probably benign Het
Brd7 A T 8: 89,066,035 (GRCm39) probably null Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cfap54 C T 10: 92,714,398 (GRCm39) M2660I unknown Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Exoc3l4 A G 12: 111,391,989 (GRCm39) D410G probably benign Het
Foxk2 CGGGGGG CGGGGGGGGG 11: 121,151,317 (GRCm39) probably benign Het
Herc2 A G 7: 55,814,755 (GRCm39) I2703V probably benign Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Iqcg G A 16: 32,870,378 (GRCm39) silent Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lipo5 G T 19: 33,445,200 (GRCm39) T123N unknown Het
Macf1 A G 4: 123,268,560 (GRCm39) S4689P probably damaging Het
Map3k5 T A 10: 19,900,765 (GRCm39) V313D probably damaging Het
Mypn C A 10: 62,961,486 (GRCm39) L1035F possibly damaging Het
Neurl1a T C 19: 47,228,328 (GRCm39) L58P probably damaging Het
Or5aq1 C T 2: 86,966,158 (GRCm39) C169Y probably damaging Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rasal3 A T 17: 32,611,125 (GRCm39) L912Q probably damaging Het
Reln C T 5: 22,153,564 (GRCm39) V2247M probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rreb1 C T 13: 38,113,579 (GRCm39) R313W possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn11a T A 9: 119,613,115 (GRCm39) D825V probably damaging Het
Slc12a3 A G 8: 95,079,668 (GRCm39) H832R probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Sos1 A G 17: 80,705,737 (GRCm39) V1278A probably damaging Het
Sstr3 C A 15: 78,424,577 (GRCm39) V57L probably damaging Het
Tex2 T A 11: 106,435,078 (GRCm39) R783W unknown Het
Tjp2 A T 19: 24,078,190 (GRCm39) I901N probably benign Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
Trim41 T C 11: 48,699,911 (GRCm39) E98G possibly damaging Het
Vmn2r65 A T 7: 84,589,623 (GRCm39) N764K probably damaging Het
Vmn2r81 A T 10: 79,106,434 (GRCm39) I471F probably damaging Het
Wdr25 G A 12: 108,864,346 (GRCm39) V164M probably damaging Het
Zdhhc13 T A 7: 48,452,692 (GRCm39) L5M probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign Het
Other mutations in Btbd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02047:Btbd7 APN 12 102,760,038 (GRCm39) missense probably benign 0.10
IGL02899:Btbd7 APN 12 102,803,921 (GRCm39) missense probably damaging 1.00
IGL03204:Btbd7 APN 12 102,774,239 (GRCm39) nonsense probably null
H8562:Btbd7 UTSW 12 102,754,561 (GRCm39) missense probably benign 0.26
IGL03050:Btbd7 UTSW 12 102,779,065 (GRCm39) missense probably benign 0.03
R1262:Btbd7 UTSW 12 102,754,210 (GRCm39) missense probably benign
R1423:Btbd7 UTSW 12 102,751,734 (GRCm39) missense possibly damaging 0.49
R1437:Btbd7 UTSW 12 102,754,349 (GRCm39) missense possibly damaging 0.59
R1636:Btbd7 UTSW 12 102,760,110 (GRCm39) missense probably damaging 1.00
R1641:Btbd7 UTSW 12 102,757,034 (GRCm39) missense probably damaging 1.00
R1722:Btbd7 UTSW 12 102,778,913 (GRCm39) missense possibly damaging 0.96
R1921:Btbd7 UTSW 12 102,760,055 (GRCm39) missense probably benign 0.01
R2021:Btbd7 UTSW 12 102,756,968 (GRCm39) missense probably damaging 1.00
R2180:Btbd7 UTSW 12 102,752,156 (GRCm39) missense probably damaging 1.00
R3768:Btbd7 UTSW 12 102,761,451 (GRCm39) missense probably damaging 1.00
R3786:Btbd7 UTSW 12 102,804,411 (GRCm39) missense probably benign 0.22
R4396:Btbd7 UTSW 12 102,751,552 (GRCm39) missense probably benign 0.00
R4809:Btbd7 UTSW 12 102,760,003 (GRCm39) critical splice donor site probably null
R4910:Btbd7 UTSW 12 102,774,307 (GRCm39) missense probably damaging 0.98
R4915:Btbd7 UTSW 12 102,804,046 (GRCm39) nonsense probably null
R5054:Btbd7 UTSW 12 102,804,471 (GRCm39) missense probably benign 0.02
R5276:Btbd7 UTSW 12 102,804,651 (GRCm39) missense probably benign 0.00
R5387:Btbd7 UTSW 12 102,804,044 (GRCm39) missense probably damaging 0.99
R5665:Btbd7 UTSW 12 102,751,456 (GRCm39) missense probably benign
R7083:Btbd7 UTSW 12 102,754,594 (GRCm39) missense probably damaging 0.99
R7354:Btbd7 UTSW 12 102,804,464 (GRCm39) missense probably benign 0.05
R7429:Btbd7 UTSW 12 102,804,039 (GRCm39) missense probably damaging 1.00
R7462:Btbd7 UTSW 12 102,803,981 (GRCm39) missense possibly damaging 0.88
R7469:Btbd7 UTSW 12 102,779,027 (GRCm39) missense probably damaging 0.99
R7998:Btbd7 UTSW 12 102,761,499 (GRCm39) missense probably damaging 1.00
R8499:Btbd7 UTSW 12 102,754,631 (GRCm39) missense probably damaging 1.00
R8773:Btbd7 UTSW 12 102,804,241 (GRCm39) missense probably benign 0.02
R8783:Btbd7 UTSW 12 102,754,501 (GRCm39) missense probably benign 0.45
R8968:Btbd7 UTSW 12 102,779,025 (GRCm39) missense probably damaging 1.00
R9016:Btbd7 UTSW 12 102,751,417 (GRCm39) missense probably damaging 1.00
R9027:Btbd7 UTSW 12 102,804,838 (GRCm39) missense probably damaging 1.00
R9216:Btbd7 UTSW 12 102,761,563 (GRCm39) missense probably damaging 1.00
R9221:Btbd7 UTSW 12 102,777,430 (GRCm39) missense probably damaging 1.00
R9471:Btbd7 UTSW 12 102,760,145 (GRCm39) missense probably damaging 1.00
X0024:Btbd7 UTSW 12 102,778,945 (GRCm39) nonsense probably null
X0025:Btbd7 UTSW 12 102,777,423 (GRCm39) missense probably benign 0.06
Z1177:Btbd7 UTSW 12 102,777,379 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTAACAATCTGCAAGGCCAG -3'
(R):5'- GTATCGTAGTGCTGCATATATCTTG -3'

Sequencing Primer
(F):5'- CCAGGAGGTAAAATGCATCTTAAG -3'
(R):5'- GACATGCTTCCTACAGCA -3'
Posted On 2015-03-25