Incidental Mutation 'R4806:BC049715'
ID 370676
Institutional Source Beutler Lab
Gene Symbol BC049715
Ensembl Gene ENSMUSG00000047515
Gene Name cDNA sequence BC049715
Synonyms
MMRRC Submission 042425-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4806 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 136804624-136817660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136816927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 56 (I56F)
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 possibly damaging
Transcript: ENSMUST00000052702
AA Change: I56F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
AA Change: I56F

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 possibly damaging
Transcript: ENSMUST00000163640
AA Change: I56F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133266
Gene: ENSMUSG00000047515
AA Change: I56F

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 possibly damaging
Transcript: ENSMUST00000203499
AA Change: I56F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
AA Change: I56F

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.6e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204086
Meta Mutation Damage Score 0.1499 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,265,070 (GRCm39) probably null Het
2410137M14Rik T A 17: 37,289,746 (GRCm39) H28L probably benign Het
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Acd A G 8: 106,424,922 (GRCm39) V406A possibly damaging Het
Acin1 A T 14: 54,916,685 (GRCm39) probably benign Het
Agbl4 T C 4: 110,812,834 (GRCm39) V118A probably damaging Het
Arhgap5 A G 12: 52,565,486 (GRCm39) D819G probably damaging Het
C1rb A T 6: 124,551,908 (GRCm39) Q270L probably benign Het
Cadps2 C T 6: 23,688,859 (GRCm39) R121Q probably damaging Het
Cd84 A G 1: 171,679,688 (GRCm39) Y122C probably benign Het
Cklf C A 8: 104,984,067 (GRCm39) P77T probably damaging Het
Clrn2 T C 5: 45,611,346 (GRCm39) L65P probably damaging Het
Csde1 TCCTCGACCT TCCT 3: 102,963,685 (GRCm39) probably benign Het
Csf2rb2 T C 15: 78,169,490 (GRCm39) D446G probably benign Het
Csmd3 T C 15: 48,177,464 (GRCm39) E358G probably benign Het
Dmkn C T 7: 30,470,667 (GRCm39) T385I possibly damaging Het
Dnah10 A G 5: 124,896,408 (GRCm39) T3591A probably damaging Het
Dpp9 A G 17: 56,497,030 (GRCm39) L734P probably damaging Het
Edem2 A G 2: 155,570,913 (GRCm39) V39A possibly damaging Het
Glmp A C 3: 88,233,320 (GRCm39) probably benign Het
Gm20775 T C Y: 10,641,885 (GRCm39) noncoding transcript Het
Gpr179 T G 11: 97,240,610 (GRCm39) D271A possibly damaging Het
Gtf2ird1 A G 5: 134,412,750 (GRCm39) V587A probably damaging Het
Igfn1 T A 1: 135,895,095 (GRCm39) T1824S probably benign Het
Ighmbp2 A T 19: 3,311,589 (GRCm39) I942N probably damaging Het
Ints2 A G 11: 86,147,035 (GRCm39) L37P probably benign Het
Irgq T A 7: 24,233,470 (GRCm39) L437Q probably damaging Het
Kcnq4 A T 4: 120,570,291 (GRCm39) W351R probably damaging Het
Kif3b G A 2: 153,162,288 (GRCm39) A500T probably damaging Het
Lpp A G 16: 24,480,430 (GRCm39) D66G probably damaging Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mc4r T A 18: 66,992,559 (GRCm39) I185F probably damaging Het
Mdga1 T C 17: 30,061,128 (GRCm39) D621G probably benign Het
Med13 A G 11: 86,189,403 (GRCm39) S1169P probably benign Het
Myh11 A T 16: 14,018,947 (GRCm39) probably null Het
Naip1 G A 13: 100,562,129 (GRCm39) A1012V probably benign Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Plb1 G A 5: 32,447,196 (GRCm39) G321D probably damaging Het
Plxnd1 A G 6: 115,937,816 (GRCm39) V1510A probably damaging Het
Polr1e T A 4: 45,024,482 (GRCm39) M131K probably benign Het
Prdm10 T A 9: 31,241,237 (GRCm39) *342R probably null Het
Prex2 T C 1: 11,138,244 (GRCm39) F108L probably damaging Het
Psmg2 T A 18: 67,781,992 (GRCm39) I186N probably benign Het
Ros1 T A 10: 51,972,271 (GRCm39) E1614D probably damaging Het
Sin3a G A 9: 56,994,026 (GRCm39) V44M probably damaging Het
Slco1a1 G A 6: 141,854,735 (GRCm39) L639F possibly damaging Het
Smr2 T G 5: 88,246,289 (GRCm39) L101* probably null Het
Spata31d1b C T 13: 59,863,535 (GRCm39) P228S probably benign Het
Stat5b G T 11: 100,681,623 (GRCm39) H544N probably benign Het
Syk A T 13: 52,786,963 (GRCm39) Y319F probably benign Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Tsc22d1 A G 14: 76,654,428 (GRCm39) probably null Het
Vmn2r52 T A 7: 9,893,169 (GRCm39) T657S probably damaging Het
Vmn2r63 A T 7: 42,576,314 (GRCm39) S500T probably benign Het
Vps45 A C 3: 95,953,725 (GRCm39) V209G probably benign Het
Xrcc1 C A 7: 24,269,905 (GRCm39) A442E probably benign Het
Ythdc1 T A 5: 86,970,704 (GRCm39) V430E probably damaging Het
Zfp341 G A 2: 154,487,786 (GRCm39) probably benign Het
Zfp422 A T 6: 116,603,623 (GRCm39) N125K probably damaging Het
Zfp53 T A 17: 21,725,263 (GRCm39) D58E possibly damaging Het
Zfp707 C T 15: 75,845,000 (GRCm39) Q66* probably null 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
R1738: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
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'- GCTTTGCTTAACAGGGTTGAAAG -3'
(R):5'- CAGCACCTGATGTCTGGATG -3'

Sequencing Primer
(F):5'- CTTAACAGGGTTGAAAGTTGTTTG -3'
(R):5'- GGATGTTTCTGAGCATATCTTCCGC -3'
Posted On 2016-02-04