Incidental Mutation 'R7079:BC035947'
ID 549399
Institutional Source Beutler Lab
Gene Symbol BC035947
Ensembl Gene ENSMUSG00000090486
Gene Name cDNA sequence BC035947
Synonyms
MMRRC Submission 045173-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7079 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 78473663-78488795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78474552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 660 (E660G)
Ref Sequence ENSEMBL: ENSMUSP00000132488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170511]
AlphaFold B2RQY6
Predicted Effect probably damaging
Transcript: ENSMUST00000170511
AA Change: E660G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132488
Gene: ENSMUSG00000090486
AA Change: E660G

DomainStartEndE-ValueType
PDB:2M9U|A 43 87 3e-13 PDB
Pfam:TLV_coat 109 691 3.8e-147 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,402,323 (GRCm39) L405S possibly damaging Het
2310009B15Rik T A 1: 138,779,865 (GRCm39) Q129L possibly damaging Het
4921509C19Rik T G 2: 151,315,198 (GRCm39) D160A probably damaging Het
Aspn A G 13: 49,720,031 (GRCm39) Y349C probably damaging Het
Atp2b1 A G 10: 98,854,595 (GRCm39) T1063A probably benign Het
Cadps2 A G 6: 23,323,408 (GRCm39) L970P probably damaging Het
Caskin1 T C 17: 24,717,858 (GRCm39) I215T probably benign Het
Cort C G 4: 149,211,848 (GRCm39) G85R probably benign Het
Cyp1a2 T C 9: 57,589,161 (GRCm39) I218V probably benign Het
Egfem1 T A 3: 29,207,731 (GRCm39) H140Q probably benign Het
Elapor2 A G 5: 9,449,253 (GRCm39) Y127C probably damaging Het
Fbln5 G A 12: 101,723,667 (GRCm39) P345S probably damaging Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Gfpt2 G A 11: 49,728,578 (GRCm39) V679I possibly damaging Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Grm1 T C 10: 10,955,702 (GRCm39) D194G probably damaging Het
Hectd1 G A 12: 51,834,638 (GRCm39) T875M possibly damaging Het
Hey2 T A 10: 30,710,382 (GRCm39) I124F probably benign Het
Hhat T C 1: 192,235,354 (GRCm39) H434R possibly damaging Het
Itpripl2 A G 7: 118,090,092 (GRCm39) F156L possibly damaging Het
Kctd11 A G 11: 69,770,847 (GRCm39) Y64H probably damaging Het
Lmln T C 16: 32,887,661 (GRCm39) L97P probably benign Het
Lrrc30 T C 17: 67,939,016 (GRCm39) D188G possibly damaging Het
Mmd T A 11: 90,158,325 (GRCm39) probably null Het
Nav3 G A 10: 109,603,153 (GRCm39) S1132L probably benign Het
Or1l4 C A 2: 37,092,185 (GRCm39) H311N probably benign Het
Or4c101 C A 2: 88,389,853 (GRCm39) N2K probably damaging Het
Or52ab7 C T 7: 102,978,391 (GRCm39) R233C probably benign Het
Pcdh15 A G 10: 74,152,957 (GRCm39) T421A probably benign Het
Pfkm G A 15: 97,992,963 (GRCm39) R7H probably benign Het
Psme2b A G 11: 48,836,443 (GRCm39) F168S probably damaging Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ptpn13 T C 5: 103,649,752 (GRCm39) V385A probably benign Het
Reep5 G A 18: 34,480,176 (GRCm39) T189I probably damaging Het
Sacm1l T A 9: 123,399,062 (GRCm39) Y272N probably damaging Het
Slc26a6 T A 9: 108,735,147 (GRCm39) H348Q probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Spata31f1a T C 4: 42,851,718 (GRCm39) E146G probably benign Het
Stkld1 A G 2: 26,839,359 (GRCm39) I342V probably benign Het
Trim23 A T 13: 104,323,801 (GRCm39) probably null Het
Trmt13 T C 3: 116,376,480 (GRCm39) T304A probably benign Het
Tyw3 G C 3: 154,299,426 (GRCm39) S94R probably benign Het
Ubqln3 A T 7: 103,790,578 (GRCm39) I504K probably benign Het
Uhrf2 T G 19: 30,060,190 (GRCm39) N519K probably null Het
Wdr93 T C 7: 79,399,040 (GRCm39) M58T probably damaging Het
Wwc2 G A 8: 48,300,580 (GRCm39) T961M unknown Het
Zfp35 C T 18: 24,136,357 (GRCm39) H234Y possibly damaging Het
Zscan21 C T 5: 138,124,728 (GRCm39) P215S probably benign 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
R3841: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
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'- GACTGCATCTATCCTACTCTGG -3'
(R):5'- GATCCAACTGTTACCTCGTGTG -3'

Sequencing Primer
(F):5'- GCATCTATCCTACTCTGGATAAAAGC -3'
(R):5'- ACAGGAGTATCGGCCTTAATTG -3'
Posted On 2019-05-15