Incidental Mutation 'R7568:BC028528'
ID 585575
Institutional Source Beutler Lab
Gene Symbol BC028528
Ensembl Gene ENSMUSG00000038543
Gene Name cDNA sequence BC028528
Synonyms L259
MMRRC Submission 045630-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7568 (G1)
Quality Score 217.468
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) GGTTCTGTGGTCACT to GGTTCTGTGGTCACTAGTTCTGTGGTCACT at 95795484 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: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,391,956 (GRCm39) V97E possibly damaging Het
Actl7a A T 4: 56,744,498 (GRCm39) T342S probably damaging Het
Alcam A G 16: 52,088,749 (GRCm39) S554P probably damaging Het
Ano3 T C 2: 110,780,638 (GRCm39) probably benign Het
Atad2b T A 12: 5,060,390 (GRCm39) probably null Het
Baz2a T C 10: 127,961,139 (GRCm39) S1621P possibly damaging Het
Best1 T A 19: 9,966,639 (GRCm39) probably null Het
Catip G T 1: 74,408,089 (GRCm39) E474* probably null Het
Comp A G 8: 70,826,509 (GRCm39) D28G probably benign Het
Crebbp G A 16: 3,944,353 (GRCm39) R600W probably benign Het
Cyfip1 A G 7: 55,521,997 (GRCm39) probably null Het
Ddr1 A G 17: 35,995,174 (GRCm39) S675P probably damaging Het
Dhtkd1 A T 2: 5,926,898 (GRCm39) probably null Het
F2rl1 G A 13: 95,650,522 (GRCm39) A120V probably damaging Het
Fam136a A G 6: 86,342,784 (GRCm39) N24D probably benign Het
Fbxw10 C A 11: 62,765,994 (GRCm39) Q755K probably benign Het
Fbxw16 C A 9: 109,268,657 (GRCm39) Q244H possibly damaging Het
Gabrg2 T C 11: 41,807,119 (GRCm39) K373E probably benign Het
Herc3 G A 6: 58,820,795 (GRCm39) V60I probably benign Het
Igkv19-93 T A 6: 68,713,477 (GRCm39) K51* probably null Het
Krt23 T A 11: 99,383,626 (GRCm39) K89* probably null Het
Mavs A G 2: 131,087,395 (GRCm39) T298A probably benign Het
Mlec T C 5: 115,288,181 (GRCm39) Y198C probably damaging Het
Ncam2 C A 16: 81,386,689 (GRCm39) N689K probably benign Het
Nfkbia A G 12: 55,538,546 (GRCm39) I82T probably damaging Het
Or12d14-ps1 A G 17: 37,673,496 (GRCm39) I163V probably benign Het
Or12j2 A G 7: 139,915,895 (GRCm39) N40S probably damaging Het
Or7a35 A T 10: 78,853,341 (GRCm39) I62F probably benign Het
Or8b43 A G 9: 38,360,942 (GRCm39) Y258C probably damaging Het
Pom121l2 A T 13: 22,166,796 (GRCm39) I356F probably benign Het
Ppip5k1 A T 2: 121,168,096 (GRCm39) L719Q probably damaging Het
Satb1 A T 17: 52,089,752 (GRCm39) V365D possibly damaging Het
Scrn2 T C 11: 96,921,712 (GRCm39) Y61H probably damaging Het
Siglec1 C T 2: 130,914,602 (GRCm39) V1505M probably damaging Het
Slc2a10 A G 2: 165,356,802 (GRCm39) N154S probably damaging Het
Slc39a10 A T 1: 46,874,290 (GRCm39) H337Q probably benign Het
Slc39a12 T A 2: 14,404,939 (GRCm39) probably null Het
Slc6a6 T G 6: 91,701,832 (GRCm39) L80R probably damaging Het
Slit1 T C 19: 41,590,074 (GRCm39) Y1404C probably damaging Het
Sowahc A G 10: 59,059,121 (GRCm39) E419G probably damaging Het
Ssh1 T C 5: 114,095,441 (GRCm39) probably null Het
Stab1 C A 14: 30,874,552 (GRCm39) C952F probably damaging Het
Stat5a T C 11: 100,765,850 (GRCm39) M312T possibly damaging Het
Tex2 A G 11: 106,439,562 (GRCm39) I606T unknown Het
Tex55 T C 16: 38,648,809 (GRCm39) E100G possibly damaging Het
Vmn1r19 A G 6: 57,381,813 (GRCm39) H122R possibly damaging Het
Zfp959 A G 17: 56,204,886 (GRCm39) I308V 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 95,795,448 (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 95,795,463 (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'- CAATACCTCCATAGCAGCATTAATG -3'
(R):5'- AATCTGTACTAGCAGCAGGC -3'

Sequencing Primer
(F):5'- GCAGCATTAATGACACAGTTCTGC -3'
(R):5'- AGACATCCCTGAGCCTGTG -3'
Posted On 2019-10-17