Incidental Mutation 'R5667:Btbd10'
ID 444475
Institutional Source Beutler Lab
Gene Symbol Btbd10
Ensembl Gene ENSMUSG00000038187
Gene Name BTB domain containing 10
Synonyms Gmrp1, 1110056N09Rik
MMRRC Submission 043310-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R5667 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 112914833-112968599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112931931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 165 (K165R)
Ref Sequence ENSEMBL: ENSMUSP00000113496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047091] [ENSMUST00000117577] [ENSMUST00000119278] [ENSMUST00000135510]
AlphaFold Q80X66
Predicted Effect probably damaging
Transcript: ENSMUST00000047091
AA Change: K157R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
AA Change: K157R

DomainStartEndE-ValueType
low complexity region 60 75 N/A INTRINSIC
low complexity region 106 147 N/A INTRINSIC
BTB 167 272 1.58e-4 SMART
low complexity region 311 322 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117577
AA Change: K165R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187
AA Change: K165R

DomainStartEndE-ValueType
low complexity region 68 83 N/A INTRINSIC
low complexity region 114 155 N/A INTRINSIC
BTB 175 280 1.58e-4 SMART
low complexity region 319 330 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119278
AA Change: K109R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187
AA Change: K109R

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
low complexity region 58 99 N/A INTRINSIC
BTB 119 224 1.58e-4 SMART
low complexity region 263 274 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135510
AA Change: K157R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187
AA Change: K157R

DomainStartEndE-ValueType
low complexity region 60 75 N/A INTRINSIC
low complexity region 106 147 N/A INTRINSIC
SCOP:d1t1da_ 167 198 3e-6 SMART
Blast:BTB 167 200 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139650
Meta Mutation Damage Score 0.0920 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 96% (54/56)
Allele List at MGI

All alleles(12) : Targeted(2) Gene trapped(10)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Adamts16 A T 13: 70,984,494 (GRCm39) Y56* probably null Het
Ak2 T A 4: 128,902,040 (GRCm39) F238I probably damaging Het
Akap8l T C 17: 32,557,266 (GRCm39) Y115C probably damaging Het
Alms1 A G 6: 85,673,753 (GRCm39) D3116G probably damaging Het
Arhgap24 T G 5: 102,994,037 (GRCm39) probably null Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Atp8b1 C T 18: 64,714,994 (GRCm39) C86Y probably damaging Het
Atxn1 T C 13: 45,710,853 (GRCm39) K693R probably benign Het
Bltp1 A T 3: 36,971,826 (GRCm39) T520S probably benign Het
Capn11 C T 17: 45,950,600 (GRCm39) R293Q possibly damaging Het
Chordc1 T G 9: 18,206,628 (GRCm39) F33V probably damaging Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Cyfip1 C T 7: 55,523,478 (GRCm39) T90I probably benign Het
Cyp4v3 G T 8: 45,761,572 (GRCm39) T417K possibly damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Foxa1 A T 12: 57,589,081 (GRCm39) S380T probably benign Het
Foxi2 A T 7: 135,012,668 (GRCm39) probably null Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
H2-Eb1 C A 17: 34,533,229 (GRCm39) Y150* probably null Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Katnip T A 7: 125,442,627 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Lrrn3 A C 12: 41,502,297 (GRCm39) S673R possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Mycn A T 12: 12,990,045 (GRCm39) M117K possibly damaging Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Nod1 T C 6: 54,910,561 (GRCm39) T869A probably benign Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Plekhg2 A T 7: 28,067,064 (GRCm39) I356N probably damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Rpl36al G A 12: 69,229,897 (GRCm39) P5L possibly damaging Het
Ryr2 A G 13: 11,774,722 (GRCm39) W1145R probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Slc11a2 A G 15: 100,301,169 (GRCm39) Y295H probably damaging Het
Slc22a6 A G 19: 8,599,148 (GRCm39) probably null Het
Styxl1 A G 5: 135,785,977 (GRCm39) probably null Het
Tmc6 A G 11: 117,666,441 (GRCm39) S288P possibly damaging Het
Trpv4 A G 5: 114,772,617 (GRCm39) L371P probably damaging Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging Het
Other mutations in Btbd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Btbd10 APN 7 112,915,763 (GRCm39) missense probably damaging 1.00
IGL03223:Btbd10 APN 7 112,931,877 (GRCm39) missense probably damaging 1.00
beatitude UTSW 7 112,927,626 (GRCm39) missense possibly damaging 0.92
Decile UTSW 7 112,931,931 (GRCm39) missense probably damaging 1.00
pacifist UTSW 7 112,921,964 (GRCm39) missense probably damaging 1.00
I1329:Btbd10 UTSW 7 112,932,082 (GRCm39) missense probably benign 0.00
R0022:Btbd10 UTSW 7 112,924,988 (GRCm39) nonsense probably null
R0022:Btbd10 UTSW 7 112,924,988 (GRCm39) nonsense probably null
R0136:Btbd10 UTSW 7 112,929,085 (GRCm39) missense possibly damaging 0.54
R0299:Btbd10 UTSW 7 112,929,085 (GRCm39) missense possibly damaging 0.54
R0599:Btbd10 UTSW 7 112,934,516 (GRCm39) splice site probably benign
R0657:Btbd10 UTSW 7 112,929,085 (GRCm39) missense possibly damaging 0.54
R1401:Btbd10 UTSW 7 112,946,266 (GRCm39) missense probably benign 0.06
R2916:Btbd10 UTSW 7 112,932,031 (GRCm39) missense probably benign
R3429:Btbd10 UTSW 7 112,951,016 (GRCm39) nonsense probably null
R3430:Btbd10 UTSW 7 112,951,016 (GRCm39) nonsense probably null
R4578:Btbd10 UTSW 7 112,921,959 (GRCm39) missense possibly damaging 0.93
R4626:Btbd10 UTSW 7 112,927,605 (GRCm39) missense probably damaging 0.96
R5067:Btbd10 UTSW 7 112,925,043 (GRCm39) missense probably damaging 0.99
R5480:Btbd10 UTSW 7 112,915,914 (GRCm39) missense probably damaging 1.00
R6468:Btbd10 UTSW 7 112,946,266 (GRCm39) missense probably benign 0.06
R6877:Btbd10 UTSW 7 112,921,967 (GRCm39) missense probably damaging 1.00
R6952:Btbd10 UTSW 7 112,951,150 (GRCm39) splice site probably null
R7059:Btbd10 UTSW 7 112,929,129 (GRCm39) missense probably damaging 0.97
R8175:Btbd10 UTSW 7 112,921,999 (GRCm39) critical splice acceptor site probably null
R8725:Btbd10 UTSW 7 112,927,626 (GRCm39) missense possibly damaging 0.92
R8727:Btbd10 UTSW 7 112,927,626 (GRCm39) missense possibly damaging 0.92
R8837:Btbd10 UTSW 7 112,929,133 (GRCm39) missense probably benign 0.44
R8969:Btbd10 UTSW 7 112,925,162 (GRCm39) missense probably damaging 1.00
R9012:Btbd10 UTSW 7 112,921,964 (GRCm39) missense probably damaging 1.00
R9020:Btbd10 UTSW 7 112,951,057 (GRCm39) missense possibly damaging 0.46
R9025:Btbd10 UTSW 7 112,951,031 (GRCm39) missense possibly damaging 0.91
X0027:Btbd10 UTSW 7 112,915,905 (GRCm39) missense probably damaging 1.00
Z1177:Btbd10 UTSW 7 112,931,896 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- AGGTACTGCAAAAGATCATTCAAA -3'
(R):5'- TCAGACATTTTAGAAGATTCAGTTCTC -3'

Sequencing Primer
(F):5'- ACCAAATTTAATGTTGGCTCTACCC -3'
(R):5'- CTGGAACTTGCTCTGTAGACCAG -3'
Posted On 2016-11-09