Incidental Mutation 'R4804:BC035947'
ID 370521
Institutional Source Beutler Lab
Gene Symbol BC035947
Ensembl Gene ENSMUSG00000090486
Gene Name cDNA sequence BC035947
Synonyms
MMRRC Submission 041998-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4804 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 78473663-78488795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 78474513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 673 (D673A)
Ref Sequence ENSEMBL: ENSMUSP00000132488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170511]
AlphaFold B2RQY6
Predicted Effect probably damaging
Transcript: ENSMUST00000170511
AA Change: D673A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132488
Gene: ENSMUSG00000090486
AA Change: D673A

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930527J03Rik T C 1: 178,103,675 (GRCm39) noncoding transcript Het
Ap4e1 T C 2: 126,885,678 (GRCm39) probably null Het
Apbb1ip T C 2: 22,713,610 (GRCm39) probably null Het
Apol11b T A 15: 77,519,466 (GRCm39) I205F probably damaging Het
Arl6ip1 A T 7: 117,728,775 (GRCm39) probably null Het
Barx2 A G 9: 31,758,108 (GRCm39) S277P unknown Het
Cacna2d1 A T 5: 16,564,206 (GRCm39) I930F probably damaging Het
Cd226 T C 18: 89,225,292 (GRCm39) V63A possibly damaging Het
Cdk8 A G 5: 146,233,209 (GRCm39) K236E probably damaging Het
Cds1 T C 5: 101,969,389 (GRCm39) L449P probably damaging Het
Celsr1 T C 15: 85,822,154 (GRCm39) D1721G possibly damaging Het
Chtf18 T C 17: 25,938,231 (GRCm39) D934G probably benign Het
Clk4 T A 11: 51,172,150 (GRCm39) L271Q probably damaging Het
Cnnm1 C A 19: 43,480,014 (GRCm39) T853N probably benign Het
Col26a1 A G 5: 136,865,579 (GRCm39) V103A probably damaging Het
D5Ertd579e C T 5: 36,786,996 (GRCm39) probably null Het
Ddx39a A G 8: 84,447,724 (GRCm39) K190E probably damaging Het
Dgkg G A 16: 22,393,943 (GRCm39) probably benign Het
Dnajc14 A T 10: 128,649,926 (GRCm39) H477L probably benign Het
Dytn A G 1: 63,682,525 (GRCm39) V374A probably benign Het
Gfra2 T C 14: 71,163,361 (GRCm39) Y215H possibly damaging Het
Grik1 A G 16: 87,754,457 (GRCm39) I376T probably damaging Het
Gzmm A T 10: 79,530,890 (GRCm39) T231S probably benign Het
Hecw1 A G 13: 14,480,570 (GRCm39) S499P probably benign Het
Hhla1 T C 15: 65,794,948 (GRCm39) I511V probably benign Het
Ifnlr1 A G 4: 135,432,647 (GRCm39) D361G possibly damaging Het
Ikzf3 A G 11: 98,381,400 (GRCm39) V60A probably benign Het
Ipo4 G C 14: 55,868,313 (GRCm39) R495G possibly damaging Het
Kat2b-ps A T 5: 93,540,392 (GRCm39) noncoding transcript Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Mblac2 T A 13: 81,898,428 (GRCm39) L268* probably null Het
Mipep C T 14: 61,040,401 (GRCm39) T307I probably damaging Het
Ms4a14 A G 19: 11,281,404 (GRCm39) S385P possibly damaging Het
Myh2 T A 11: 67,077,328 (GRCm39) I821N possibly damaging Het
Myo5c A T 9: 75,152,306 (GRCm39) I65F probably damaging Het
Neurog1 A G 13: 56,399,579 (GRCm39) L56P probably benign Het
Nrsn1 C A 13: 25,437,580 (GRCm39) C116F probably benign Het
Nscme3l A T 19: 5,553,028 (GRCm39) M251K possibly damaging Het
Nynrin T C 14: 56,102,326 (GRCm39) V665A probably benign Het
Or10w1 A G 19: 13,631,882 (GRCm39) M30V probably benign Het
Or2w1b T A 13: 21,300,175 (GRCm39) Y104* probably null Het
Or5ak20 T C 2: 85,183,425 (GRCm39) I282V probably benign Het
Pakap T C 4: 57,854,688 (GRCm39) S67P probably benign Het
Pcdhac1 C T 18: 37,224,231 (GRCm39) S348L possibly damaging Het
Pcnx4 T C 12: 72,620,976 (GRCm39) I932T probably benign Het
Pfkl G A 10: 77,827,228 (GRCm39) T486I probably benign Het
Pi4ka A T 16: 17,126,025 (GRCm39) M1115K possibly damaging Het
Rilpl1 A G 5: 124,631,828 (GRCm39) W173R probably damaging Het
Rnf111 A T 9: 70,338,239 (GRCm39) C900S possibly damaging Het
Ryr2 A G 13: 11,731,983 (GRCm39) V2319A probably damaging Het
Scnn1g AATCCTGCAGGTGA AA 7: 121,362,303 (GRCm39) probably null Het
Slc25a13 A T 6: 6,109,213 (GRCm39) L383H probably damaging Het
Slco2a1 C T 9: 102,950,383 (GRCm39) P325L probably damaging Het
Stoml2 T C 4: 43,029,882 (GRCm39) N162S probably benign Het
Syne1 G T 10: 5,299,310 (GRCm39) Q982K possibly damaging Het
Tbc1d31 C T 15: 57,814,502 (GRCm39) Q568* probably null Het
Tbc1d9 G A 8: 83,982,554 (GRCm39) probably null Het
Tbx3 A G 5: 119,818,577 (GRCm39) D384G possibly damaging Het
Tecta T C 9: 42,309,533 (GRCm39) I14V probably benign Het
Tgm1 A T 14: 55,943,076 (GRCm39) V588E probably benign Het
Tpk1 A C 6: 43,570,012 (GRCm39) probably benign Het
Tspear A T 10: 77,612,791 (GRCm39) probably null Het
Ubxn10 G T 4: 138,448,515 (GRCm39) Q54K possibly damaging Het
Ubxn4 C T 1: 128,194,141 (GRCm39) R312* probably null Het
Vmn1r230 A T 17: 21,067,345 (GRCm39) K178M probably damaging Het
Zfp143 G A 7: 109,687,976 (GRCm39) V445I probably damaging Het
Zfp688 C A 7: 127,021,057 (GRCm39) W40C probably 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
R3841:BC035947 UTSW 1 78,474,482 (GRCm39) missense probably benign 0.00
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'- GCAGTGGGCTCCTAGACA -3'
(R):5'- AAGACAAGGGATCCAGTCCTTAAG -3'

Sequencing Primer
(F):5'- AACCTGGAGTTTGACTGCATC -3'
(R):5'- GATCCAGTCCTTAAGAGATGCTG -3'
Posted On 2016-02-04