Incidental Mutation 'R7180:BC028528'
ID 558884
Institutional Source Beutler Lab
Gene Symbol BC028528
Ensembl Gene ENSMUSG00000038543
Gene Name cDNA sequence BC028528
Synonyms L259
MMRRC Submission 045233-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7180 (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 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A C 4: 49,381,803 (GRCm39) Y196* probably null Het
Agrn C T 4: 156,256,296 (GRCm39) R1405H probably benign Het
Agtpbp1 G A 13: 59,613,852 (GRCm39) H1030Y probably benign Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Ap1g2 G C 14: 55,341,908 (GRCm39) P218R probably damaging Het
Ap2a1 C T 7: 44,573,228 (GRCm39) probably null Het
Apc2 T A 10: 80,146,990 (GRCm39) D681E possibly damaging Het
Arhgef5 T A 6: 43,252,142 (GRCm39) N964K possibly damaging Het
Ccnf T A 17: 24,442,889 (GRCm39) M773L probably benign Het
Ces1e A C 8: 93,941,772 (GRCm39) S234A probably damaging Het
Ces1g T A 8: 94,029,576 (GRCm39) E552V probably benign Het
Ctcfl A T 2: 172,947,770 (GRCm39) probably null Het
Dkk2 T A 3: 131,791,953 (GRCm39) S54T probably damaging Het
Dll1 A G 17: 15,595,131 (GRCm39) S49P probably benign Het
Dscam C A 16: 96,626,764 (GRCm39) A382S probably damaging Het
Eif4a3l1 T A 6: 136,306,535 (GRCm39) I332N probably damaging Het
Eif5b A T 1: 38,088,155 (GRCm39) M1020L probably damaging Het
Elp1 A T 4: 56,796,535 (GRCm39) S118R probably damaging Het
Enpp4 T C 17: 44,412,928 (GRCm39) D202G probably benign Het
Eps8 A T 6: 137,456,072 (GRCm39) I803N possibly damaging Het
Etv2 C A 7: 30,335,074 (GRCm39) G28V probably damaging Het
Fadd A T 7: 144,134,522 (GRCm39) V121E probably damaging Het
Fam149b T C 14: 20,431,853 (GRCm39) Y545H probably benign Het
Fbxl21 A T 13: 56,671,340 (GRCm39) M1L probably benign Het
Flg2 T C 3: 93,110,140 (GRCm39) S723P unknown Het
Gm4884 C T 7: 40,693,633 (GRCm39) T534I possibly damaging Het
Gpbar1 A T 1: 74,317,792 (GRCm39) I12F possibly damaging Het
Gpr151 A T 18: 42,712,021 (GRCm39) L219* probably null Het
Hdgfl2 T A 17: 56,404,532 (GRCm39) probably null Het
Hectd4 A G 5: 121,446,405 (GRCm39) M200V probably benign Het
Idua A G 5: 108,828,761 (GRCm39) N335S probably benign Het
Ifit1bl1 A T 19: 34,571,302 (GRCm39) F385Y probably damaging Het
Ift172 T C 5: 31,411,606 (GRCm39) D1624G probably damaging Het
Igsf9b A T 9: 27,233,964 (GRCm39) T388S possibly damaging Het
Insyn2b A G 11: 34,369,873 (GRCm39) K526E probably damaging Het
Jak2 A G 19: 29,259,811 (GRCm39) I237V probably benign Het
Kat5 C A 19: 5,653,989 (GRCm39) K398N probably damaging Het
Lmbrd2 T A 15: 9,175,283 (GRCm39) V398E possibly damaging Het
Lrp1 T C 10: 127,392,834 (GRCm39) N2744D probably damaging Het
Lrrd1 T C 5: 3,901,459 (GRCm39) I588T probably damaging Het
Ltn1 A G 16: 87,215,382 (GRCm39) F418L probably damaging Het
Magi1 T A 6: 93,792,731 (GRCm39) D169V probably benign Het
Mpdz T C 4: 81,253,988 (GRCm39) E1048G probably damaging Het
Myh9 T C 15: 77,692,110 (GRCm39) I150V probably benign Het
Nckap1 A T 2: 80,337,236 (GRCm39) M1006K probably benign Het
Nkain1 C T 4: 130,533,925 (GRCm38) V132I probably benign Het
Npy6r A T 18: 44,409,223 (GRCm39) M215L probably benign Het
Nr3c2 A T 8: 77,635,592 (GRCm39) Q231L probably damaging Het
Obox5 C T 7: 15,491,849 (GRCm39) P88L probably benign Het
Or10a48 A G 7: 108,425,186 (GRCm39) S7P probably damaging Het
Or9k7 T C 10: 130,046,811 (GRCm39) T63A probably benign Het
P2rx7 A G 5: 122,818,883 (GRCm39) D435G possibly damaging Het
Pdzd2 T A 15: 12,376,209 (GRCm39) S1309C probably damaging Het
Pex5l C T 3: 33,078,840 (GRCm39) probably null Het
Pip T A 6: 41,824,565 (GRCm39) C18S probably damaging Het
Pla2g7 C T 17: 43,909,967 (GRCm39) T157M probably damaging Het
Plce1 A G 19: 38,768,229 (GRCm39) Y2168C probably damaging Het
Rgs2 T C 1: 143,877,886 (GRCm39) T137A probably benign Het
Rpl32 T A 6: 115,784,768 (GRCm39) I31F possibly damaging Het
Ryr2 T C 13: 11,701,864 (GRCm39) Y2931C probably damaging Het
Slc4a4 G A 5: 89,194,095 (GRCm39) E192K probably damaging Het
Slc4a7 G A 14: 14,765,580 (GRCm38) A521T probably damaging Het
Smchd1 T C 17: 71,701,818 (GRCm39) E1058G probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Ssc5d A G 7: 4,939,600 (GRCm39) T679A probably benign Het
Tas2r130 A C 6: 131,607,211 (GRCm39) S195A probably benign Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Terf2ip G T 8: 112,738,052 (GRCm39) probably benign Het
Tm6sf2 G A 8: 70,528,656 (GRCm39) R136K probably benign Het
Tmprss15 A G 16: 78,764,886 (GRCm39) L858P probably damaging Het
Topaz1 A G 9: 122,626,770 (GRCm39) D1466G possibly damaging Het
Trip4 A T 9: 65,764,627 (GRCm39) L446Q probably damaging Het
Trpv3 G T 11: 73,168,818 (GRCm39) V93L probably benign Het
Ubl4b A T 3: 107,461,962 (GRCm39) H99Q probably damaging Het
Unc45a A T 7: 79,979,569 (GRCm39) probably null Het
Vmn1r47 G T 6: 89,999,335 (GRCm39) A156S probably damaging Het
Vmn2r33 T A 7: 7,566,896 (GRCm39) H72L probably benign Het
Zeb1 G A 18: 5,767,867 (GRCm39) V793M possibly damaging Het
Zfp628 C A 7: 4,924,063 (GRCm39) Q762K 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
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 95,795,484 (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'- TAAAGTTGTCCTCTGTCCTCAACAC -3'
(R):5'- AATCCTACCGAGGGCAGAAC -3'

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