Incidental Mutation 'R5139:BC035947'
ID 396330
Institutional Source Beutler Lab
Gene Symbol BC035947
Ensembl Gene ENSMUSG00000090486
Gene Name cDNA sequence BC035947
Synonyms
MMRRC Submission 042725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5139 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 78473663-78488795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78475884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 216 (E216G)
Ref Sequence ENSEMBL: ENSMUSP00000132488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170511]
AlphaFold B2RQY6
Predicted Effect possibly damaging
Transcript: ENSMUST00000170511
AA Change: E216G

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132488
Gene: ENSMUSG00000090486
AA Change: E216G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,905 (GRCm39) L625P probably damaging Het
Agtpbp1 A G 13: 59,648,027 (GRCm39) S598P probably damaging Het
Ahnak A C 19: 8,982,019 (GRCm39) D1101A probably damaging Het
Aoah T C 13: 21,207,407 (GRCm39) V542A possibly damaging Het
Aox1 T C 1: 58,100,456 (GRCm39) S418P probably benign Het
Appl1 A G 14: 26,669,112 (GRCm39) I354T probably benign Het
Bnip3l A G 14: 67,237,064 (GRCm39) S63P probably damaging Het
Cckar T C 5: 53,860,265 (GRCm39) N188S probably benign Het
Ccl24 C T 5: 135,601,775 (GRCm39) A18T probably benign Het
Cmya5 A G 13: 93,232,569 (GRCm39) C840R probably benign Het
Copa C T 1: 171,948,896 (GRCm39) R1183W probably damaging Het
Dnah10 T C 5: 124,876,024 (GRCm39) V2621A probably damaging Het
Fryl A G 5: 73,248,061 (GRCm39) Y1019H probably damaging Het
Hira T C 16: 18,773,508 (GRCm39) Y943H probably damaging Het
Ighv3-8 T C 12: 114,285,994 (GRCm39) Y116C probably damaging Het
Igkv4-70 G A 6: 69,245,089 (GRCm39) T44I probably damaging Het
Lce3c G A 3: 92,852,778 (GRCm39) G80S unknown Het
Ldhb A T 6: 142,439,921 (GRCm39) N206K probably damaging Het
Mical1 T A 10: 41,354,411 (GRCm39) probably null Het
Myh2 T C 11: 67,070,174 (GRCm39) L402P probably damaging Het
Naa15 T A 3: 51,351,261 (GRCm39) L144I probably damaging Het
Nbea T A 3: 55,534,384 (GRCm39) I2918F possibly damaging Het
Or5w11 C A 2: 87,459,000 (GRCm39) H64Q probably benign Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pdlim7 A G 13: 55,654,869 (GRCm39) S214P probably damaging Het
Polg T C 7: 79,099,773 (GRCm39) D49G probably damaging Het
Polr2f C A 15: 79,035,858 (GRCm39) D106E possibly damaging Het
Ppp6r3 A C 19: 3,514,610 (GRCm39) N766K probably damaging Het
Prl8a1 T A 13: 27,758,049 (GRCm39) D220V probably damaging Het
Qrfprl A T 6: 65,433,203 (GRCm39) N341I probably damaging Het
Septin9 A G 11: 117,247,511 (GRCm39) K497E possibly damaging Het
Sfswap T G 5: 129,648,073 (GRCm39) M927R possibly damaging Het
Smad9 T G 3: 54,704,827 (GRCm39) W400G possibly damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tesmin A G 19: 3,456,934 (GRCm39) I238V probably damaging Het
Trf C T 9: 103,100,133 (GRCm39) probably null Het
Trpc3 A T 3: 36,725,706 (GRCm39) M90K possibly damaging Het
Tshz3 C T 7: 36,470,450 (GRCm39) T813I probably benign Het
Tub T A 7: 108,610,309 (GRCm39) M1K probably null Het
Wdfy3 A T 5: 101,997,133 (GRCm39) probably null Het
Zfp853 T C 5: 143,274,570 (GRCm39) Q350R unknown 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
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'- TCCCACTGTCAGTCTGATCTTAA -3'
(R):5'- GTGCACCCTCCTTGGACTTG -3'

Sequencing Primer
(F):5'- AATGAACCCAGGGTCTCTTG -3'
(R):5'- GACTTGGTGGCCTGATCTCAC -3'
Posted On 2016-06-21