Incidental Mutation 'R3841:BC035947'
ID 277140
Institutional Source Beutler Lab
Gene Symbol BC035947
Ensembl Gene ENSMUSG00000090486
Gene Name cDNA sequence BC035947
Synonyms
MMRRC Submission 040781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R3841 (G1)
Quality Score 218
Status Validated
Chromosome 1
Chromosomal Location 78473663-78488795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78474482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 683 (N683K)
Ref Sequence ENSEMBL: ENSMUSP00000132488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170511]
AlphaFold B2RQY6
Predicted Effect probably benign
Transcript: ENSMUST00000170511
AA Change: N683K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132488
Gene: ENSMUSG00000090486
AA Change: N683K

DomainStartEndE-ValueType
PDB:2M9U|A 43 87 3e-13 PDB
Pfam:TLV_coat 109 691 3.8e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190853
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,620,104 (GRCm39) K11N probably benign Het
Atp8b3 A G 10: 80,365,540 (GRCm39) F405L possibly damaging Het
Bmper T A 9: 23,384,727 (GRCm39) probably null Het
Btnl7-ps A G 17: 34,761,550 (GRCm39) noncoding transcript Het
Cmya5 A G 13: 93,231,140 (GRCm39) V1316A probably damaging Het
Cracd A T 5: 77,006,858 (GRCm39) Q1073L unknown Het
Dgcr6 C A 16: 17,888,077 (GRCm39) Y200* probably null Het
Dsp A C 13: 38,381,681 (GRCm39) I2210L probably benign Het
Eef1e1 G A 13: 38,840,167 (GRCm39) T46I probably damaging Het
Epc2 A G 2: 49,378,750 (GRCm39) K68R probably damaging Het
F11r G T 1: 171,288,457 (GRCm39) R100L probably damaging Het
Fam83c C T 2: 155,676,668 (GRCm39) R34H probably benign Het
Fbxw25 A T 9: 109,491,202 (GRCm39) Y105* probably null Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Hipk2 T C 6: 38,795,861 (GRCm39) E136G probably damaging Het
Hsph1 T A 5: 149,544,180 (GRCm39) probably null Het
Impdh1 A G 6: 29,202,768 (GRCm39) S421P probably damaging Het
Jhy T A 9: 40,856,142 (GRCm39) E115V probably benign Het
Kmt2a T C 9: 44,742,588 (GRCm39) probably benign Het
Ldlrap1 T C 4: 134,477,747 (GRCm39) T159A probably damaging Het
Lrrc4c A G 2: 97,460,537 (GRCm39) T388A probably damaging Het
Map3k10 C A 7: 27,357,789 (GRCm39) C663F possibly damaging Het
Me3 A T 7: 89,435,701 (GRCm39) N179Y possibly damaging Het
Medag T A 5: 149,350,888 (GRCm39) I121N probably damaging Het
Mocos C T 18: 24,809,681 (GRCm39) A428V probably damaging Het
Mok C T 12: 110,781,591 (GRCm39) V59M probably benign Het
Neb C A 2: 52,097,672 (GRCm39) probably null Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or52s1 G A 7: 102,861,900 (GRCm39) G267R probably damaging Het
Or6c35 A G 10: 129,169,202 (GRCm39) I151V probably benign Het
Otud1 G T 2: 19,663,554 (GRCm39) E228* probably null Het
Parp4 A T 14: 56,825,235 (GRCm39) N120Y probably damaging Het
Ptprb T C 10: 116,182,887 (GRCm39) V1521A possibly damaging Het
Rap1gap T C 4: 137,444,758 (GRCm39) F182S probably damaging Het
Rcan2 A G 17: 44,347,870 (GRCm39) K193R probably benign Het
Rdh19 A T 10: 127,692,755 (GRCm39) M141L probably benign Het
Selenok C T 14: 29,695,337 (GRCm39) R72* probably null Het
Tbpl1 A G 10: 22,587,807 (GRCm39) probably benign Het
Tnxb A G 17: 34,917,897 (GRCm39) E2270G possibly damaging Het
Tulp1 A G 17: 28,572,689 (GRCm39) V489A probably damaging Het
Utp20 A T 10: 88,611,065 (GRCm39) probably benign Het
Zfp617 G A 8: 72,685,961 (GRCm39) G97E probably damaging Het
Zfp773 A G 7: 7,135,390 (GRCm39) V402A possibly damaging Het
Other mutations in BC035947
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1853:BC035947 UTSW 1 78,475,653 (GRCm39) missense possibly damaging 0.95
R2079:BC035947 UTSW 1 78,488,561 (GRCm39) utr 5 prime probably benign
R2234:BC035947 UTSW 1 78,474,599 (GRCm39) missense probably damaging 0.98
R2235:BC035947 UTSW 1 78,474,599 (GRCm39) missense probably damaging 0.98
R3840:BC035947 UTSW 1 78,474,482 (GRCm39) missense probably benign 0.00
R4804:BC035947 UTSW 1 78,474,513 (GRCm39) missense probably damaging 1.00
R4909:BC035947 UTSW 1 78,474,666 (GRCm39) missense probably damaging 0.99
R5139:BC035947 UTSW 1 78,475,884 (GRCm39) missense possibly damaging 0.60
R5302:BC035947 UTSW 1 78,488,599 (GRCm39) start codon destroyed probably null 0.00
R5669:BC035947 UTSW 1 78,474,550 (GRCm39) missense probably damaging 0.98
R5686:BC035947 UTSW 1 78,474,567 (GRCm39) missense probably benign 0.03
R5868:BC035947 UTSW 1 78,474,960 (GRCm39) missense probably damaging 1.00
R5988:BC035947 UTSW 1 78,475,843 (GRCm39) nonsense probably null
R6787:BC035947 UTSW 1 78,475,527 (GRCm39) missense possibly damaging 0.64
R6854:BC035947 UTSW 1 78,475,125 (GRCm39) missense probably damaging 1.00
R7079:BC035947 UTSW 1 78,474,552 (GRCm39) missense probably damaging 1.00
R7168:BC035947 UTSW 1 78,476,230 (GRCm39) missense probably benign 0.04
R7387:BC035947 UTSW 1 78,475,098 (GRCm39) missense possibly damaging 0.92
R8468:BC035947 UTSW 1 78,474,967 (GRCm39) missense probably damaging 0.99
R8990:BC035947 UTSW 1 78,475,486 (GRCm39) missense probably damaging 0.98
R9192:BC035947 UTSW 1 78,475,877 (GRCm39) nonsense probably null
R9786:BC035947 UTSW 1 78,488,561 (GRCm39) utr 5 prime probably benign
Predicted Primers PCR Primer
(F):5'- GGCAGTGGGCTCCTAGACAA -3'
(R):5'- AGACAAGGGATCCAGTCCTTA -3'

Sequencing Primer
(F):5'- AACCTGGAGTTTGACTGCATC -3'
(R):5'- GATCCAGTCCTTAAGAGATGCTG -3'
Posted On 2015-04-06