Incidental Mutation 'R1722:Btbd7'
ID 191572
Institutional Source Beutler Lab
Gene Symbol Btbd7
Ensembl Gene ENSMUSG00000041702
Gene Name BTB domain containing 7
Synonyms 5730507E09Rik, FUP1, E130118E17Rik
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R1722 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 102747056-102844730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102778913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 451 (I451N)
Ref Sequence ENSEMBL: ENSMUSP00000152426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045652] [ENSMUST00000223554]
AlphaFold Q8CFE5
Predicted Effect possibly damaging
Transcript: ENSMUST00000045652
AA Change: I451N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: I451N

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 noncoding transcript
Transcript: ENSMUST00000220596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221925
Predicted Effect possibly damaging
Transcript: ENSMUST00000223554
AA Change: I451N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging 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
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
R3770: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'- AACTGTGTTCCTGACCTGGCTTG -3'
(R):5'- GGCTGTGAGGACATCATTGCTGAG -3'

Sequencing Primer
(F):5'- AAGTCCTGGGCTTGTTCAC -3'
(R):5'- GACATCATTGCTGAGAGCATC -3'
Posted On 2014-05-14