Incidental Mutation 'R5686:BC035947'
ID 443329
Institutional Source Beutler Lab
Gene Symbol BC035947
Ensembl Gene ENSMUSG00000090486
Gene Name cDNA sequence BC035947
Synonyms
MMRRC Submission 043319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5686 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 78473663-78488795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78474567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 655 (T655K)
Ref Sequence ENSEMBL: ENSMUSP00000132488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170511]
AlphaFold B2RQY6
Predicted Effect probably benign
Transcript: ENSMUST00000170511
AA Change: T655K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000132488
Gene: ENSMUSG00000090486
AA Change: T655K

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: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,451,433 (GRCm39) E839G possibly damaging Het
Adgrf3 T A 5: 30,402,304 (GRCm39) T575S probably damaging Het
Akap9 T A 5: 4,021,926 (GRCm39) C1158S probably benign Het
Arhgap39 A G 15: 76,610,833 (GRCm39) F926L probably damaging Het
Bcas1 T C 2: 170,248,730 (GRCm39) T64A probably benign Het
Bltp1 T A 3: 36,971,809 (GRCm39) F514Y probably benign Het
Brca2 A G 5: 150,464,369 (GRCm39) K1378E probably benign Het
Card6 A T 15: 5,130,435 (GRCm39) N320K probably damaging Het
Ccdc3 A T 2: 5,142,871 (GRCm39) I43F probably damaging Het
Cd200r1 T C 16: 44,610,527 (GRCm39) S212P probably damaging Het
Cdh8 T C 8: 99,759,854 (GRCm39) I632V probably benign Het
Col25a1 A G 3: 130,357,803 (GRCm39) E477G probably damaging Het
Cpne5 A T 17: 29,402,991 (GRCm39) C215S possibly damaging Het
Crim1 T A 17: 78,681,512 (GRCm39) S989T possibly damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Dync1h1 T A 12: 110,582,838 (GRCm39) N340K probably benign Het
Eif4e2 G A 1: 87,153,960 (GRCm39) probably null Het
Ephb6 G T 6: 41,596,638 (GRCm39) R895L possibly damaging Het
Esrrg T A 1: 187,882,395 (GRCm39) H217Q probably benign Het
Fgl1 T A 8: 41,653,594 (GRCm39) K100* probably null Het
Flt4 T C 11: 49,521,430 (GRCm39) V450A probably benign Het
G6pc2 A T 2: 69,051,128 (GRCm39) I74L probably benign Het
Gabrr1 T C 4: 33,161,684 (GRCm39) M336T probably damaging Het
Gli1 T A 10: 127,173,305 (GRCm39) T118S probably benign Het
Gm5435 A T 12: 82,542,800 (GRCm39) noncoding transcript Het
Got1l1 A G 8: 27,688,087 (GRCm39) L314P probably damaging Het
Hk3 T A 13: 55,154,626 (GRCm39) I740F probably damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Igsf9b A G 9: 27,235,475 (GRCm39) T508A probably damaging Het
Il16 T A 7: 83,297,936 (GRCm39) N431I probably benign Het
Lax1 G A 1: 133,607,914 (GRCm39) P276S probably damaging Het
Lrp2 A T 2: 69,341,405 (GRCm39) V925E possibly damaging Het
Lrp3 T A 7: 34,902,910 (GRCm39) T479S possibly damaging Het
Metrn G A 17: 26,014,191 (GRCm39) R212C probably damaging Het
Mlip A C 9: 77,254,975 (GRCm39) probably null Het
Mmp24 C T 2: 155,641,697 (GRCm39) T175I probably damaging Het
N6amt1 A T 16: 87,151,223 (GRCm39) D28V probably damaging Het
Or1e21 A T 11: 73,344,677 (GRCm39) Y120* probably null Het
Or4f4b G A 2: 111,314,488 (GRCm39) G238R probably damaging Het
Or5p52 A G 7: 107,502,119 (GRCm39) H65R probably damaging Het
Or5p66 G T 7: 107,885,949 (GRCm39) A128E probably damaging Het
Or6d15 T C 6: 116,559,890 (GRCm39) T6A probably benign Het
Or8b12i T A 9: 20,082,265 (GRCm39) I201F possibly damaging Het
Pcdh17 T A 14: 84,770,433 (GRCm39) N970K probably damaging Het
Pdzrn3 T C 6: 101,128,389 (GRCm39) Y759C probably damaging Het
Pkd2l2 T C 18: 34,558,290 (GRCm39) L323P probably damaging Het
Psg21 G T 7: 18,386,183 (GRCm39) probably benign Het
Rest T C 5: 77,429,573 (GRCm39) V664A probably benign Het
Sco2 G A 15: 89,256,175 (GRCm39) R160* probably null Het
Sfswap T A 5: 129,591,882 (GRCm39) S300T probably damaging Het
Slc5a10 A T 11: 61,569,392 (GRCm39) M329K probably benign Het
Slco1a5 G A 6: 142,182,033 (GRCm39) P564S probably damaging Het
Stk38 A G 17: 29,201,103 (GRCm39) F191S probably damaging Het
Svep1 T A 4: 58,072,826 (GRCm39) Y2161F possibly damaging Het
Tada2a G A 11: 83,970,428 (GRCm39) T441M possibly damaging Het
Tg T A 15: 66,560,738 (GRCm39) N1033K probably benign Het
Thoc3 A T 13: 54,615,686 (GRCm39) I126N probably damaging Het
Tnc T C 4: 63,925,967 (GRCm39) probably null Het
Tnc A T 4: 63,927,032 (GRCm39) D831E possibly damaging Het
Uhmk1 A T 1: 170,038,787 (GRCm39) V100E probably damaging Het
Usp43 G A 11: 67,812,742 (GRCm39) probably benign Het
Vmn2r90 A T 17: 17,933,712 (GRCm39) Y424F probably benign Het
Vps33a C T 5: 123,685,064 (GRCm39) probably null Het
Xirp2 A T 2: 67,312,642 (GRCm39) K37I probably damaging Het
Zfp106 A T 2: 120,363,988 (GRCm39) probably null Het
Zfp748 A T 13: 67,690,647 (GRCm39) C204* probably null Het
Zfp998 T C 13: 66,579,722 (GRCm39) R254G 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
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'- AACCTGGAGTTTGACTGCAT -3'
(R):5'- ACCTCGTGTGTATTATCATTCTGCAT -3'

Sequencing Primer
(F):5'- ATAACTGGTCCAGCTACGGCAG -3'
(R):5'- ACAGGAGTATCGGCCTTAATTG -3'
Posted On 2016-11-09