Incidental Mutation 'R7308:BC028528'
ID 567377
Institutional Source Beutler Lab
Gene Symbol BC028528
Ensembl Gene ENSMUSG00000038543
Gene Name cDNA sequence BC028528
Synonyms L259
MMRRC Submission 045323-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7308 (G1)
Quality Score 214.458
Status Not validated
Chromosome 3
Chromosomal Location 95791266-95799317 bp(-) (GRCm39)
Type of Mutation small insertion (5 aa in frame mutation)
DNA Base Change (assembly) CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT to CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT at 95795448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036360] [ENSMUST00000090476] [ENSMUST00000171519]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036360
SMART Domains Protein: ENSMUSP00000046810
Gene: ENSMUSG00000038543

DomainStartEndE-ValueType
Pfam:DUF4634 1 145 3.6e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090476
SMART Domains Protein: ENSMUSP00000102749
Gene: ENSMUSG00000038543

DomainStartEndE-ValueType
Pfam:DUF4634 1 146 1.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171519
SMART Domains Protein: ENSMUSP00000127666
Gene: ENSMUSG00000038543

DomainStartEndE-ValueType
Pfam:DUF4634 1 146 1.5e-65 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,022,993 (GRCm39) I43T probably benign Het
Ankar G A 1: 72,690,953 (GRCm39) Q1175* probably null Het
Aqr G A 2: 113,934,543 (GRCm39) A1366V possibly damaging Het
Arhgap45 G A 10: 79,862,392 (GRCm39) probably null Het
Atf7ip T A 6: 136,542,087 (GRCm39) M607K probably benign Het
Bcar3 T A 3: 122,302,142 (GRCm39) V279E probably benign Het
Cd96 C T 16: 45,892,097 (GRCm39) probably null Het
Cdca2 G A 14: 67,932,440 (GRCm39) P488S probably benign Het
Cfhr4 A G 1: 139,682,041 (GRCm39) V185A possibly damaging Het
Col4a2 T G 8: 11,456,856 (GRCm39) probably null Het
Cyp4a12a A G 4: 115,184,955 (GRCm39) R379G possibly damaging Het
Defb34 A G 8: 19,176,395 (GRCm39) S29G probably benign Het
Dnah11 A G 12: 117,959,010 (GRCm39) S2958P probably damaging Het
Dync1h1 A G 12: 110,631,596 (GRCm39) D4431G possibly damaging Het
Egfem1 A T 3: 29,206,015 (GRCm39) H84L probably benign Het
Enah A T 1: 181,733,950 (GRCm39) probably null Het
Fam178b G T 1: 36,698,488 (GRCm39) Q78K probably benign Het
Glb1 A G 9: 114,302,931 (GRCm39) N589S probably damaging Het
Gm1527 C T 3: 28,956,429 (GRCm39) H132Y probably benign Het
Gm5799 A G 14: 43,781,164 (GRCm39) R22G possibly damaging Het
Grip2 T C 6: 91,755,669 (GRCm39) D617G possibly damaging Het
Hax1 A T 3: 89,905,873 (GRCm39) D5E possibly damaging Het
Hic1 A G 11: 75,057,977 (GRCm39) L304P probably damaging Het
Hmox1 T A 8: 75,823,647 (GRCm39) I105N probably damaging Het
Hormad1 T C 3: 95,469,866 (GRCm39) S38P probably damaging Het
Hspa4 A G 11: 53,157,930 (GRCm39) S558P possibly damaging Het
Kcnf1 T A 12: 17,224,730 (GRCm39) H497L probably benign Het
Kcnma1 C T 14: 23,381,003 (GRCm39) D1022N probably damaging Het
Kcnt1 T C 2: 25,790,475 (GRCm39) F479S possibly damaging Het
Krba1 T C 6: 48,383,273 (GRCm39) V203A probably benign Het
Lct G T 1: 128,246,824 (GRCm39) P233Q probably benign Het
Ly75 T C 2: 60,164,859 (GRCm39) D773G probably benign Het
Malt1 T C 18: 65,582,680 (GRCm39) probably null Het
Man1a2 A T 3: 100,527,421 (GRCm39) L333Q probably damaging Het
Mtus1 T C 8: 41,535,965 (GRCm39) T584A probably benign Het
Myof A T 19: 37,899,359 (GRCm39) S1800R probably damaging Het
Nbea A C 3: 55,998,452 (GRCm39) C118W probably damaging Het
Nsd3 A T 8: 26,130,740 (GRCm39) D35V probably damaging Het
Ntaq1 T C 15: 58,016,006 (GRCm39) V85A possibly damaging Het
Or11g24 G A 14: 50,662,722 (GRCm39) V249I possibly damaging Het
Or2y1c G A 11: 49,360,754 (GRCm39) probably benign Het
Pcnx3 C T 19: 5,736,175 (GRCm39) R217H possibly damaging Het
Pcsk4 G A 10: 80,159,007 (GRCm39) P462L probably benign Het
Pdia5 T G 16: 35,276,879 (GRCm39) K96N probably damaging Het
Pik3c2a T C 7: 115,973,074 (GRCm39) Y707C probably damaging Het
Ppig A T 2: 69,579,806 (GRCm39) N447Y unknown Het
Ppp1r9b T C 11: 94,895,397 (GRCm39) L695P possibly damaging Het
Proser1 C T 3: 53,386,125 (GRCm39) A669V probably benign Het
Rdx A T 9: 51,980,170 (GRCm39) K254N probably damaging Het
Slc35f2 T C 9: 53,705,294 (GRCm39) S95P probably benign Het
Slc4a3 T A 1: 75,534,006 (GRCm39) S1118T probably benign Het
Slf1 G A 13: 77,199,287 (GRCm39) P698L probably benign Het
Sptbn2 A G 19: 4,801,602 (GRCm39) E2338G probably benign Het
Taok3 T A 5: 117,338,216 (GRCm39) Y91* probably null Het
Tbc1d31 C T 15: 57,816,212 (GRCm39) L649F probably damaging Het
Tdpoz8 A G 3: 92,981,872 (GRCm39) T223A probably benign Het
Tmem132b A T 5: 125,864,710 (GRCm39) I939F possibly damaging Het
Trav17 T A 14: 54,044,436 (GRCm39) Y69N probably benign Het
Trmt13 T C 3: 116,388,388 (GRCm39) D16G probably benign Het
Upf2 T A 2: 5,978,329 (GRCm39) Y398N unknown Het
Vmn1r238 T C 18: 3,122,875 (GRCm39) T180A probably benign Het
Zfp738 A T 13: 67,817,672 (GRCm39) I773N probably benign Het
Zscan4e A T 7: 11,041,080 (GRCm39) M264K probably benign Het
Other mutations in BC028528
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:BC028528 APN 3 95,796,212 (GRCm39) missense probably damaging 1.00
R0157:BC028528 UTSW 3 95,792,280 (GRCm39) critical splice donor site probably null
R0164:BC028528 UTSW 3 95,794,646 (GRCm39) intron probably benign
R0306:BC028528 UTSW 3 95,797,132 (GRCm39) unclassified probably benign
R1478:BC028528 UTSW 3 95,799,271 (GRCm39) splice site probably null
R4204:BC028528 UTSW 3 95,797,057 (GRCm39) nonsense probably null
R4649:BC028528 UTSW 3 95,795,577 (GRCm39) missense probably damaging 0.99
R5022:BC028528 UTSW 3 95,796,135 (GRCm39) intron probably benign
R6541:BC028528 UTSW 3 95,795,530 (GRCm39) missense probably benign 0.00
R6683:BC028528 UTSW 3 95,795,539 (GRCm39) missense probably damaging 1.00
R6980:BC028528 UTSW 3 95,795,480 (GRCm39) small insertion probably benign
R6980:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R6980:BC028528 UTSW 3 95,795,451 (GRCm39) small insertion probably benign
R7058:BC028528 UTSW 3 95,792,323 (GRCm39) missense possibly damaging 0.84
R7180:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7308:BC028528 UTSW 3 95,795,481 (GRCm39) small insertion probably benign
R7308:BC028528 UTSW 3 95,795,464 (GRCm39) small insertion probably benign
R7310:BC028528 UTSW 3 95,795,460 (GRCm39) small insertion probably benign
R7310:BC028528 UTSW 3 95,795,485 (GRCm39) small insertion probably benign
R7310:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7310:BC028528 UTSW 3 95,795,451 (GRCm39) small insertion probably benign
R7356:BC028528 UTSW 3 95,795,470 (GRCm39) small insertion probably benign
R7356:BC028528 UTSW 3 95,795,477 (GRCm39) small insertion probably benign
R7356:BC028528 UTSW 3 95,795,487 (GRCm39) small insertion probably benign
R7356:BC028528 UTSW 3 95,795,495 (GRCm39) small insertion probably benign
R7356:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7356:BC028528 UTSW 3 95,795,453 (GRCm39) small insertion probably benign
R7376:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7430:BC028528 UTSW 3 95,795,481 (GRCm39) small insertion probably benign
R7430:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7490:BC028528 UTSW 3 95,795,498 (GRCm39) small insertion probably benign
R7490:BC028528 UTSW 3 95,795,478 (GRCm39) small insertion probably benign
R7490:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7491:BC028528 UTSW 3 95,795,450 (GRCm39) small insertion probably benign
R7491:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7565:BC028528 UTSW 3 95,795,456 (GRCm39) small insertion probably benign
R7565:BC028528 UTSW 3 95,795,450 (GRCm39) small insertion probably benign
R7565:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7568:BC028528 UTSW 3 95,795,484 (GRCm39) small insertion probably benign
R7568:BC028528 UTSW 3 95,795,463 (GRCm39) small insertion probably benign
R7568:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7635:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7672:BC028528 UTSW 3 95,795,487 (GRCm39) small insertion probably benign
R7672:BC028528 UTSW 3 95,795,455 (GRCm39) small insertion probably benign
R7672:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7909:BC028528 UTSW 3 95,795,476 (GRCm39) small insertion probably benign
R7909:BC028528 UTSW 3 95,795,475 (GRCm39) small insertion probably benign
R7909:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7909:BC028528 UTSW 3 95,795,489 (GRCm39) small insertion probably benign
R7909:BC028528 UTSW 3 95,795,480 (GRCm39) small insertion probably benign
R7912:BC028528 UTSW 3 95,795,448 (GRCm39) small insertion probably benign
R7912:BC028528 UTSW 3 95,795,483 (GRCm39) small insertion probably benign
R7912:BC028528 UTSW 3 95,795,466 (GRCm39) small insertion probably benign
R7912:BC028528 UTSW 3 95,795,456 (GRCm39) small insertion probably benign
R7912:BC028528 UTSW 3 95,795,454 (GRCm39) small insertion probably benign
R7912:BC028528 UTSW 3 95,795,452 (GRCm39) small insertion probably benign
R7912:BC028528 UTSW 3 95,795,450 (GRCm39) small insertion probably benign
R7958:BC028528 UTSW 3 95,796,224 (GRCm39) missense probably benign 0.01
R8337:BC028528 UTSW 3 95,792,298 (GRCm39) missense probably benign 0.03
R9288:BC028528 UTSW 3 95,799,227 (GRCm39) missense probably benign 0.00
R9454:BC028528 UTSW 3 95,797,082 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AAAGTTGTCCTCTGTCCTCAACAC -3'
(R):5'- AATCCTACCGAGGGCAGAACAG -3'

Sequencing Primer
(F):5'- CAATTGGAGAATTGCCTCTGTCAG -3'
(R):5'- CAGGTTGAATAAGGAGGTAACAAC -3'
Posted On 2019-06-26