Incidental Mutation 'R5866:BC061237'
ID 454191
Institutional Source Beutler Lab
Gene Symbol BC061237
Ensembl Gene ENSMUSG00000072145
Gene Name cDNA sequence BC061237
Synonyms
MMRRC Submission 044075-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5866 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 44737579-44743802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44738730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 43 (D43V)
Ref Sequence ENSEMBL: ENSMUSP00000094662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096899]
AlphaFold Q6P8I2
Predicted Effect possibly damaging
Transcript: ENSMUST00000096899
AA Change: D43V

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094662
Gene: ENSMUSG00000072145
AA Change: D43V

DomainStartEndE-ValueType
Pfam:Takusan 10 88 1.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227180
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.7%
Validation Efficiency 91% (51/56)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A G 1: 120,096,814 (GRCm39) probably benign Het
A530084C06Rik G A 13: 31,743,178 (GRCm39) A25V unknown Het
A730018C14Rik T C 12: 112,381,472 (GRCm39) noncoding transcript Het
Aasdh G T 5: 77,024,058 (GRCm39) A198E probably damaging Het
Abcb8 C T 5: 24,607,101 (GRCm39) A328V probably damaging Het
Ace3 C A 11: 105,888,330 (GRCm39) H347N probably damaging Het
Amy1 A T 3: 113,355,569 (GRCm39) M302K possibly damaging Het
Apol11b C T 15: 77,524,747 (GRCm39) V13M probably null Het
Arfgef2 T A 2: 166,678,177 (GRCm39) V131E possibly damaging Het
Arnt T A 3: 95,398,037 (GRCm39) probably benign Het
Atl1 T C 12: 69,972,785 (GRCm39) V35A probably damaging Het
Cracd A G 5: 77,005,384 (GRCm39) T582A unknown Het
Cyp4f17 T C 17: 32,725,887 (GRCm39) S7P probably benign Het
Ddx60 A G 8: 62,393,774 (GRCm39) Y70C probably damaging Het
Defb34 T C 8: 19,176,468 (GRCm39) L53P probably damaging Het
Dennd5a T C 7: 109,518,567 (GRCm39) T525A probably benign Het
Ephb3 T C 16: 21,030,129 (GRCm39) probably benign Het
Fam83d T A 2: 158,621,750 (GRCm39) probably null Het
Gramd2b A G 18: 56,607,108 (GRCm39) D74G possibly damaging Het
Hax1 A G 3: 89,903,035 (GRCm39) probably benign Het
Kcnh8 T C 17: 53,263,804 (GRCm39) I767T probably benign Het
Ldah G A 12: 8,270,614 (GRCm39) V5I possibly damaging Het
Nbeal2 A G 9: 110,460,560 (GRCm39) V1758A probably damaging Het
Nos1 A G 5: 118,033,967 (GRCm39) D363G probably damaging Het
Or14j6 C T 17: 38,214,700 (GRCm39) R88* probably null Het
Pdlim7 T A 13: 55,646,501 (GRCm39) D445V probably damaging Het
Phip T A 9: 82,772,203 (GRCm39) M1115L probably benign Het
Pigb C T 9: 72,936,966 (GRCm39) A215T probably damaging Het
Pkd1 A T 17: 24,799,935 (GRCm39) S2952C probably damaging Het
Plxnb2 T C 15: 89,051,775 (GRCm39) D148G probably damaging Het
Ppp1r36 T C 12: 76,473,579 (GRCm39) F70S possibly damaging Het
Rad52 G A 6: 119,889,907 (GRCm39) probably benign Het
Rasa2 T A 9: 96,427,823 (GRCm39) T681S probably benign Het
Rel A T 11: 23,692,724 (GRCm39) Y436* probably null Het
Sec16a G A 2: 26,309,650 (GRCm39) P2119S probably benign Het
Sema6d C A 2: 124,506,262 (GRCm39) T733K probably benign Het
Sf3b3 C T 8: 111,541,266 (GRCm39) A950T probably benign Het
Slc24a5 T A 2: 124,927,591 (GRCm39) F297I probably damaging Het
Spp2 A T 1: 88,340,025 (GRCm39) D122V possibly damaging Het
Stap1 A G 5: 86,225,906 (GRCm39) K60R probably benign Het
Stat1 A G 1: 52,178,423 (GRCm39) K286E probably damaging Het
Stn1 T C 19: 47,505,568 (GRCm39) T129A probably benign Het
Tagap C T 17: 8,152,285 (GRCm39) T490I probably damaging Het
Tbc1d2 T C 4: 46,637,715 (GRCm39) E177G possibly damaging Het
Tln2 A T 9: 67,174,150 (GRCm39) L841Q probably damaging Het
Tmem59 T A 4: 107,047,754 (GRCm39) M71K probably damaging Het
Ugt2a3 G A 5: 87,484,406 (GRCm39) T206I probably damaging Het
Utp20 G A 10: 88,608,421 (GRCm39) H1539Y possibly damaging Het
Vps13a T C 19: 16,657,387 (GRCm39) N1794S probably benign Het
Vsig10 A T 5: 117,490,814 (GRCm39) probably null Het
Zfp97 T A 17: 17,365,087 (GRCm39) F195L possibly damaging Het
Other mutations in BC061237
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:BC061237 APN 14 44,743,445 (GRCm39) splice site probably benign
IGL02931:BC061237 APN 14 44,740,779 (GRCm39) missense possibly damaging 0.95
R1371:BC061237 UTSW 14 44,741,762 (GRCm39) splice site probably benign
R1927:BC061237 UTSW 14 44,738,700 (GRCm39) missense possibly damaging 0.84
R2884:BC061237 UTSW 14 44,738,627 (GRCm39) missense possibly damaging 0.93
R3892:BC061237 UTSW 14 44,738,730 (GRCm39) missense probably benign
R4749:BC061237 UTSW 14 44,743,469 (GRCm39) missense probably damaging 0.98
R4884:BC061237 UTSW 14 44,738,666 (GRCm39) missense possibly damaging 0.95
R6381:BC061237 UTSW 14 44,741,713 (GRCm39) missense possibly damaging 0.72
R6445:BC061237 UTSW 14 44,738,731 (GRCm39) missense probably benign 0.13
R6714:BC061237 UTSW 14 44,741,639 (GRCm39) missense possibly damaging 0.93
R8886:BC061237 UTSW 14 44,741,691 (GRCm39) missense probably benign 0.00
R8943:BC061237 UTSW 14 44,741,658 (GRCm39) missense probably benign 0.01
R9124:BC061237 UTSW 14 44,740,851 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TTCAGGGATTCACAGTGTCTC -3'
(R):5'- AATCAGGCAGCAGAGTTTGG -3'

Sequencing Primer
(F):5'- GGATTCACAGTGTCTCTAGATTTTC -3'
(R):5'- CAGCAGAGTTTGGATATGTGGACATC -3'
Posted On 2017-02-10