Incidental Mutation 'R7565:BC028528'
ID 585359
Institutional Source Beutler Lab
Gene Symbol BC028528
Ensembl Gene ENSMUSG00000038543
Gene Name cDNA sequence BC028528
Synonyms L259
MMRRC Submission 045710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7565 (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) CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT to CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT at 95795450 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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,452,750 (GRCm39) Y63F possibly damaging Het
Abi1 A T 2: 22,836,596 (GRCm39) I421N probably benign Het
Ahnak A G 19: 8,993,520 (GRCm39) I4935V probably benign Het
Atg12 A C 18: 46,867,551 (GRCm39) V131G probably damaging Het
Bcl3 C T 7: 19,546,419 (GRCm39) V139I probably damaging Het
Bloc1s4 T A 5: 36,905,689 (GRCm39) M101L probably benign Het
Bmp6 C T 13: 38,530,233 (GRCm39) Q109* probably null Het
Cabyr C T 18: 12,877,656 (GRCm39) T28I possibly damaging Het
Catsper3 T C 13: 55,932,538 (GRCm39) S22P probably benign Het
Catsperg2 A T 7: 29,412,406 (GRCm39) C395S probably null Het
Cd101 T C 3: 100,926,108 (GRCm39) T208A probably benign Het
Chaf1a A G 17: 56,371,148 (GRCm39) S678G probably benign Het
Chrna2 A C 14: 66,388,484 (GRCm39) I500L probably benign Het
Cln6 C T 9: 62,758,039 (GRCm39) T266I possibly damaging Het
Col17a1 T A 19: 47,659,963 (GRCm39) T330S possibly damaging Het
Cyp2d40 A G 15: 82,644,975 (GRCm39) V225A unknown Het
Dnah10 A G 5: 124,876,095 (GRCm39) N2645D probably damaging Het
Dph5 T A 3: 115,686,446 (GRCm39) V74D probably benign Het
Dthd1 A T 5: 63,000,435 (GRCm39) I586L probably damaging Het
Elane G A 10: 79,722,879 (GRCm39) R95Q probably benign Het
Fbxw17 A G 13: 50,587,398 (GRCm39) T453A probably damaging Het
Fpr3 C A 17: 18,191,227 (GRCm39) T166K probably damaging Het
Fryl A G 5: 73,191,063 (GRCm39) I2724T probably benign Het
Fsip2 C T 2: 82,779,856 (GRCm39) R201C probably damaging Het
Gm14496 A G 2: 181,642,630 (GRCm39) N767S probably damaging Het
Gm14496 T A 2: 181,633,050 (GRCm39) F11Y possibly damaging Het
Hyal4 T A 6: 24,765,933 (GRCm39) M429K possibly damaging Het
Itgad A T 7: 127,782,187 (GRCm39) T208S probably damaging Het
Itpr3 T G 17: 27,329,862 (GRCm39) L1552R probably benign Het
Kcp C T 6: 29,499,186 (GRCm39) C292Y probably damaging Het
Kdr T C 5: 76,109,503 (GRCm39) K958R probably damaging Het
Klhl22 T A 16: 17,607,148 (GRCm39) W485R probably damaging Het
Ldhb T A 6: 142,438,245 (GRCm39) I271F possibly damaging Het
Lmo7 A G 14: 102,122,737 (GRCm39) R309G probably damaging Het
Marco C A 1: 120,402,395 (GRCm39) C517F probably damaging Het
Mpdz G A 4: 81,221,891 (GRCm39) T1423I probably benign Het
Ncoa2 T C 1: 13,218,600 (GRCm39) S1410G probably benign Het
Ncor1 T C 11: 62,292,091 (GRCm39) N283S probably damaging Het
Nlrp14 T A 7: 106,781,094 (GRCm39) L97* probably null Het
Olfm3 T G 3: 114,916,393 (GRCm39) S442A probably damaging Het
Or10p1 A G 10: 129,444,029 (GRCm39) V107A possibly damaging Het
Or14j10 T C 17: 37,935,392 (GRCm39) I45V probably damaging Het
Or2ag12 T C 7: 106,277,333 (GRCm39) Y120C probably damaging Het
Or5a1 T A 19: 12,097,375 (GRCm39) S234C probably benign Het
Or5an10 T C 19: 12,276,212 (GRCm39) T95A probably benign Het
Pank4 G A 4: 155,065,007 (GRCm39) V769I probably benign Het
Pdgfrb G A 18: 61,216,336 (GRCm39) D1065N probably damaging Het
Ppp1r12a G A 10: 108,104,501 (GRCm39) S911N probably benign Het
Prdx6b A G 2: 80,123,334 (GRCm39) T48A probably damaging Het
Pttg1ip A G 10: 77,432,870 (GRCm39) K166E probably damaging Het
Rabgap1l T C 1: 160,078,987 (GRCm39) D9G Het
Rpl13a C T 7: 44,776,466 (GRCm39) G69S probably benign Het
Rps6ka5 T A 12: 100,582,342 (GRCm39) I177F probably damaging Het
Rttn C A 18: 89,078,603 (GRCm39) A1343E probably damaging Het
Ryr2 C T 13: 11,575,539 (GRCm39) V4820I possibly damaging Het
Slc12a7 A G 13: 73,938,891 (GRCm39) I223V possibly damaging Het
Slc9a3 G A 13: 74,305,813 (GRCm39) V277M probably damaging Het
Spata13 A T 14: 60,989,298 (GRCm39) Y988F probably damaging Het
Spata31e2 A T 1: 26,724,351 (GRCm39) N276K probably benign Het
Spo11 A G 2: 172,833,864 (GRCm39) I329V possibly damaging Het
Tcp11l2 A T 10: 84,422,998 (GRCm39) D63V probably damaging Het
Tdrd3 G A 14: 87,744,029 (GRCm39) W659* probably null Het
Thnsl2 T C 6: 71,118,311 (GRCm39) D39G probably benign Het
Thumpd1 A T 7: 119,316,085 (GRCm39) L288* probably null Het
Tram1l1 T C 3: 124,115,556 (GRCm39) Y239H probably damaging Het
Usp38 T A 8: 81,708,601 (GRCm39) E992D probably damaging Het
Usp45 A G 4: 21,784,790 (GRCm39) T159A probably benign Het
Vmn1r218 C T 13: 23,320,830 (GRCm39) T59I probably benign Het
Vmn2r70 T C 7: 85,214,499 (GRCm39) I218V probably benign Het
Xpr1 T C 1: 155,183,488 (GRCm39) I461V probably benign Het
Ydjc T C 16: 16,964,869 (GRCm39) L8P probably damaging Het
Yme1l1 A T 2: 23,050,232 (GRCm39) N21I possibly damaging Het
Zfhx4 T C 3: 5,455,426 (GRCm39) L1140P 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 95,795,448 (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'- GTCCTCTGTCCTCAACACAG -3'
(R):5'- TTTCCCAATCCTACCGAGGG -3'

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