Incidental Mutation 'R7087:BC030500'
ID 549961
Institutional Source Beutler Lab
Gene Symbol BC030500
Ensembl Gene ENSMUSG00000049946
Gene Name cDNA sequence BC030500
Synonyms
MMRRC Submission 045181-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7087 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 59364789-59367332 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59365388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 13 (I13N)
Ref Sequence ENSEMBL: ENSMUSP00000130369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062978] [ENSMUST00000146513] [ENSMUST00000160055] [ENSMUST00000203398] [ENSMUST00000204128]
AlphaFold Q8K0R8
Predicted Effect probably benign
Transcript: ENSMUST00000062978
SMART Domains Protein: ENSMUSP00000131717
Gene: ENSMUSG00000049946

DomainStartEndE-ValueType
low complexity region 48 58 N/A INTRINSIC
low complexity region 92 101 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146513
SMART Domains Protein: ENSMUSP00000118306
Gene: ENSMUSG00000096914

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000160055
AA Change: I13N
SMART Domains Protein: ENSMUSP00000130369
Gene: ENSMUSG00000049946
AA Change: I13N

DomainStartEndE-ValueType
low complexity region 112 122 N/A INTRINSIC
low complexity region 156 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203398
SMART Domains Protein: ENSMUSP00000145298
Gene: ENSMUSG00000096914

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204128
SMART Domains Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914

DomainStartEndE-ValueType
transmembrane domain 13 31 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 140 404 2.1e-9 PFAM
Pfam:Glycos_transf_2 143 328 7.3e-33 PFAM
Pfam:Glyco_tranf_2_2 143 356 1.2e-8 PFAM
Pfam:Glyco_transf_7C 297 371 6.2e-12 PFAM
RICIN 452 585 7.9e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T A 7: 119,373,870 (GRCm39) V252D probably damaging Het
Adprhl1 A G 8: 13,271,856 (GRCm39) L1634P probably damaging Het
Arhgef4 A T 1: 34,850,767 (GRCm39) R438W probably damaging Het
Asb3 A C 11: 30,948,321 (GRCm39) K38T probably benign Het
Atp1a4 A T 1: 172,074,269 (GRCm39) L328Q probably damaging Het
Cbarp A G 10: 79,972,242 (GRCm39) S136P probably damaging Het
Ccdc18 T A 5: 108,343,988 (GRCm39) D910E probably benign Het
Cenpo C T 12: 4,265,307 (GRCm39) E238K probably benign Het
Cmya5 A G 13: 93,227,483 (GRCm39) V2535A probably benign Het
Ddx39b C T 17: 35,472,025 (GRCm39) R355C probably damaging Het
Dock10 T C 1: 80,570,543 (GRCm39) T338A probably benign Het
Dpysl3 T C 18: 43,496,595 (GRCm39) D147G probably damaging Het
Eif3i G T 4: 129,486,104 (GRCm39) H284Q probably damaging Het
Erbb4 A T 1: 68,779,650 (GRCm39) L42Q probably null Het
Exoc3l2 A G 7: 19,203,582 (GRCm39) E58G Het
Fgf18 C T 11: 33,074,677 (GRCm39) R98Q probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gp2 T A 7: 119,049,455 (GRCm39) T361S probably damaging Het
Gtsf1 A T 15: 103,333,876 (GRCm39) H33Q probably damaging Het
Hoxa4 G A 6: 52,168,271 (GRCm39) T133M probably damaging Het
Hspb7 C A 4: 141,149,866 (GRCm39) T84K possibly damaging Het
Kcnq4 C T 4: 120,561,596 (GRCm39) R491H probably damaging Het
Kdm7a C T 6: 39,152,315 (GRCm39) R127H probably benign Het
Lsm10 C T 4: 125,991,952 (GRCm39) R103C probably damaging Het
Mgme1 T C 2: 144,114,101 (GRCm39) S68P probably damaging Het
Nes G T 3: 87,887,065 (GRCm39) V1775L probably benign Het
Nfrkb C T 9: 31,331,228 (GRCm39) Q1250* probably null Het
Or4s2 T C 2: 88,473,197 (GRCm39) F29L probably damaging Het
Phf21b A T 15: 84,676,033 (GRCm39) L338H probably damaging Het
Pira12 G A 7: 3,900,218 (GRCm39) A128V probably benign Het
Ppp2r5b A G 19: 6,282,580 (GRCm39) V190A possibly damaging Het
Prmt1 T C 7: 44,631,007 (GRCm39) probably null Het
Rusc1 A G 3: 88,996,799 (GRCm39) V639A probably damaging Het
Slc24a2 T A 4: 86,909,456 (GRCm39) probably null Het
Slc39a10 T C 1: 46,874,880 (GRCm39) T141A probably damaging Het
Spta1 A T 1: 174,002,076 (GRCm39) M69L probably benign Het
St8sia5 A C 18: 77,342,238 (GRCm39) Q316P possibly damaging Het
Svs3a T C 2: 164,131,717 (GRCm39) I96T possibly damaging Het
Syne1 T A 10: 5,492,024 (GRCm39) probably benign Het
Trappc3 T C 4: 126,166,474 (GRCm39) S16P probably benign Het
Vmn2r44 A T 7: 8,381,366 (GRCm39) F176I probably benign Het
Wnk1 C T 6: 120,014,491 (GRCm39) E35K possibly damaging Het
Zfp354c A G 11: 50,706,040 (GRCm39) L345P probably damaging Het
Zfp608 T A 18: 55,032,469 (GRCm39) K490N probably damaging Het
Zfp687 A C 3: 94,917,524 (GRCm39) S709A probably benign Het
Other mutations in BC030500
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01580:BC030500 APN 8 59,366,054 (GRCm39) unclassified probably benign
R5433:BC030500 UTSW 8 59,366,043 (GRCm39) unclassified probably benign
R6589:BC030500 UTSW 8 59,365,956 (GRCm39) unclassified probably benign
R7252:BC030500 UTSW 8 59,364,838 (GRCm39) critical splice donor site probably null
R8242:BC030500 UTSW 8 59,365,388 (GRCm39) missense unknown
R8243:BC030500 UTSW 8 59,365,388 (GRCm39) missense unknown
R8350:BC030500 UTSW 8 59,365,388 (GRCm39) missense unknown
R8725:BC030500 UTSW 8 59,366,049 (GRCm39) missense unknown
R8727:BC030500 UTSW 8 59,366,049 (GRCm39) missense unknown
R9120:BC030500 UTSW 8 59,365,911 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTTTGGATAGGGGTTCACAAACTC -3'
(R):5'- TCCCACTTGCCTGTAAAGCC -3'

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