Incidental Mutation 'R1738:BC049715'
ID 199864
Institutional Source Beutler Lab
Gene Symbol BC049715
Ensembl Gene ENSMUSG00000047515
Gene Name cDNA sequence BC049715
Synonyms
MMRRC Submission 039770-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1738 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 136804624-136817660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136817306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 182 (P182L)
Ref Sequence ENSEMBL: ENSMUSP00000145015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052702] [ENSMUST00000068293] [ENSMUST00000111894] [ENSMUST00000163640] [ENSMUST00000203468] [ENSMUST00000203499] [ENSMUST00000204086]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000052702
AA Change: P182L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
AA Change: P182L

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.3e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068293
SMART Domains Protein: ENSMUSP00000066235
Gene: ENSMUSG00000043298

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 1.9e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111894
SMART Domains Protein: ENSMUSP00000107525
Gene: ENSMUSG00000043298

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 2.4e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163640
AA Change: P182L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133266
Gene: ENSMUSG00000047515
AA Change: P182L

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.6e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203468
SMART Domains Protein: ENSMUSP00000144838
Gene: ENSMUSG00000043298

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 2.4e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203499
AA Change: P182L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
AA Change: P182L

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.6e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204086
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.7%
  • 20x: 89.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,682,475 (GRCm39) Y202C probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adgrl3 T G 5: 81,535,826 (GRCm39) M155R probably damaging Het
Ak9 A T 10: 41,211,917 (GRCm39) Q218L possibly damaging Het
Akap13 G A 7: 75,326,942 (GRCm39) G647D probably damaging Het
Angptl3 A G 4: 98,921,499 (GRCm39) T206A probably benign Het
Arhgap19 A G 19: 41,772,820 (GRCm39) I291T probably benign Het
Bsn T C 9: 107,984,133 (GRCm39) D3307G unknown Het
Cby2 C T 14: 75,830,497 (GRCm39) M1I probably null Het
Ces2h T A 8: 105,745,697 (GRCm39) probably null Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Col4a2 T A 8: 11,496,238 (GRCm39) F1620I probably damaging Het
Col6a3 T C 1: 90,744,083 (GRCm39) E88G probably damaging Het
Coro6 A G 11: 77,360,251 (GRCm39) D407G probably benign Het
Cpe A T 8: 65,064,475 (GRCm39) F241L probably damaging Het
Csde1 A G 3: 102,936,493 (GRCm39) probably benign Het
Cspg4b T G 13: 113,504,034 (GRCm39) L179R possibly damaging Het
Dgki A G 6: 37,034,367 (GRCm39) I361T possibly damaging Het
Dnah3 A G 7: 119,634,582 (GRCm39) V1298A probably damaging Het
Duox2 T A 2: 122,123,895 (GRCm39) I430F probably damaging Het
Gak T C 5: 108,764,842 (GRCm39) Y153C probably damaging Het
Gal3st2 T A 1: 93,802,318 (GRCm39) probably null Het
Gbp11 T C 5: 105,474,510 (GRCm39) N389D probably benign Het
Grm1 A G 10: 10,812,163 (GRCm39) V287A probably damaging Het
Hsp90ab1 T C 17: 45,882,732 (GRCm39) K36E probably damaging Het
Il24 T A 1: 130,815,099 (GRCm39) probably null Het
Ino80d T C 1: 63,132,624 (GRCm39) D13G probably damaging Het
Ipp G A 4: 116,387,618 (GRCm39) V399I probably benign Het
Kank3 A T 17: 34,036,168 (GRCm39) D12V probably damaging Het
Lcn12 A T 2: 25,383,263 (GRCm39) S74R probably damaging Het
Mast3 T C 8: 71,237,200 (GRCm39) T637A probably benign Het
Nes C A 3: 87,883,728 (GRCm39) Y662* probably null Het
Nudt13 A T 14: 20,359,762 (GRCm39) H163L probably damaging Het
Or1j17 T C 2: 36,578,797 (GRCm39) V261A probably benign Het
Or4a2 T C 2: 89,248,362 (GRCm39) T132A probably benign Het
Or4p7 G A 2: 88,221,671 (GRCm39) V27I probably benign Het
Or8k1 A T 2: 86,048,060 (GRCm39) probably null Het
Pde6b C T 5: 108,578,425 (GRCm39) R788* probably null Het
Pex13 A G 11: 23,599,458 (GRCm39) L351P probably benign Het
Phc1 A G 6: 122,295,525 (GRCm39) M942T probably damaging Het
Plch1 A T 3: 63,626,659 (GRCm39) D571E probably benign Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Plekhh2 A G 17: 84,874,125 (GRCm39) N470S possibly damaging Het
Primpol A G 8: 47,060,873 (GRCm39) S82P probably damaging Het
Prkg1 T C 19: 30,764,322 (GRCm39) D256G possibly damaging Het
Prune2 A G 19: 17,102,374 (GRCm39) E2511G probably benign Het
Rassf8 T C 6: 145,761,034 (GRCm39) I120T probably benign Het
Rfx4 G A 10: 84,716,839 (GRCm39) probably null Het
Rtp2 A T 16: 23,746,423 (GRCm39) N69K probably benign Het
Sh3d19 A T 3: 86,027,913 (GRCm39) I597F probably damaging Het
Sorl1 T A 9: 42,001,261 (GRCm39) E246D probably benign Het
Tet2 T A 3: 133,187,148 (GRCm39) I1094L probably benign Het
Tlr4 A T 4: 66,759,313 (GRCm39) H702L probably benign Het
Tnfrsf14 T C 4: 155,009,788 (GRCm39) D47G probably damaging Het
Ttn T C 2: 76,777,157 (GRCm39) Y1415C probably damaging Het
Vmn2r17 T A 5: 109,576,377 (GRCm39) F416Y probably benign Het
Vmn2r54 A G 7: 12,369,815 (GRCm39) S83P probably benign Het
Vtn A G 11: 78,390,422 (GRCm39) D53G possibly damaging Het
Vwde A T 6: 13,190,723 (GRCm39) V456D probably damaging Het
Wdr91 G A 6: 34,861,243 (GRCm39) P653L probably damaging Het
Ythdf1 G A 2: 180,553,285 (GRCm39) A283V probably benign Het
Zfp975 C A 7: 42,312,373 (GRCm39) W80L probably benign Het
Other mutations in BC049715
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:BC049715 APN 6 136,817,093 (GRCm39) missense possibly damaging 0.80
IGL01834:BC049715 APN 6 136,817,489 (GRCm39) missense probably benign 0.26
R0330:BC049715 UTSW 6 136,817,035 (GRCm39) missense possibly damaging 0.95
R0375:BC049715 UTSW 6 136,816,994 (GRCm39) missense probably benign 0.12
R0419:BC049715 UTSW 6 136,817,143 (GRCm39) missense possibly damaging 0.71
R1437:BC049715 UTSW 6 136,817,090 (GRCm39) missense probably damaging 0.99
R1734:BC049715 UTSW 6 136,817,306 (GRCm39) missense probably damaging 1.00
R1737:BC049715 UTSW 6 136,817,306 (GRCm39) missense probably damaging 1.00
R2264:BC049715 UTSW 6 136,817,434 (GRCm39) nonsense probably null
R3004:BC049715 UTSW 6 136,816,790 (GRCm39) missense possibly damaging 0.80
R3937:BC049715 UTSW 6 136,817,453 (GRCm39) missense possibly damaging 0.93
R3938:BC049715 UTSW 6 136,817,453 (GRCm39) missense possibly damaging 0.93
R4459:BC049715 UTSW 6 136,817,050 (GRCm39) missense probably damaging 0.99
R4806:BC049715 UTSW 6 136,816,927 (GRCm39) missense possibly damaging 0.93
R5086:BC049715 UTSW 6 136,817,429 (GRCm39) missense probably damaging 1.00
R6280:BC049715 UTSW 6 136,817,229 (GRCm39) nonsense probably null
R7383:BC049715 UTSW 6 136,817,453 (GRCm39) missense probably damaging 0.98
R7554:BC049715 UTSW 6 136,817,295 (GRCm39) missense probably damaging 0.99
R8055:BC049715 UTSW 6 136,816,913 (GRCm39) missense possibly damaging 0.95
R8768:BC049715 UTSW 6 136,816,979 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- AGGTGCTGACTGCTATGACCTCTG -3'
(R):5'- TTGCCAAGTGATGACTCTGCCC -3'

Sequencing Primer
(F):5'- ATCCAGACATCAGGTGCTG -3'
(R):5'- TGCGTAAGTACAAAGATATCCCCTTC -3'
Posted On 2014-05-23