Incidental Mutation 'R1372:Ankrd28'
ID 157378
Institutional Source Beutler Lab
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
MMRRC Submission 039436-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R1372 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31467218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 248 (M248K)
Ref Sequence ENSEMBL: ENSMUSP00000153992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863] [ENSMUST00000227878] [ENSMUST00000228037]
AlphaFold Q505D1
Predicted Effect probably benign
Transcript: ENSMUST00000014640
AA Change: M218K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: M218K

DomainStartEndE-ValueType
ANK 7 36 5.69e2 SMART
ANK 40 69 2.45e-4 SMART
ANK 73 102 1.59e-3 SMART
ANK 106 135 1.09e-1 SMART
ANK 139 168 1.58e-7 SMART
ANK 172 201 4.97e-5 SMART
ANK 205 234 1.01e-5 SMART
ANK 238 267 2.74e-7 SMART
ANK 271 301 4.13e-2 SMART
ANK 305 334 3.8e-1 SMART
ANK 338 367 3.06e-5 SMART
ANK 371 400 1.44e-1 SMART
ANK 404 433 6.76e-7 SMART
ANK 437 466 1.73e-4 SMART
ANK 470 500 7.83e-3 SMART
ANK 504 534 2.99e1 SMART
ANK 549 578 1.34e-1 SMART
ANK 582 611 3.76e-5 SMART
ANK 616 645 4.13e-2 SMART
ANK 652 681 1.24e-5 SMART
ANK 685 714 4.5e-3 SMART
ANK 718 747 1.93e-2 SMART
ANK 755 784 2.85e-5 SMART
ANK 787 818 2.15e0 SMART
ANK 822 851 2.16e-5 SMART
ANK 855 885 4.5e-3 SMART
ANK 889 918 6.61e-1 SMART
ANK 925 954 3.85e-2 SMART
low complexity region 982 995 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227083
Predicted Effect probably benign
Transcript: ENSMUST00000227089
AA Change: M64K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227307
Predicted Effect probably benign
Transcript: ENSMUST00000227863
AA Change: M248K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000227878
Predicted Effect probably benign
Transcript: ENSMUST00000228037
Meta Mutation Damage Score 0.1033 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,696 (GRCm39) Q137L possibly damaging Het
Abca12 A G 1: 71,334,016 (GRCm39) I1162T probably damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Adgre5 G A 8: 84,454,949 (GRCm39) P248S probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Asxl3 T G 18: 22,543,066 (GRCm39) S20A probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Car10 A T 11: 93,469,525 (GRCm39) T167S probably benign Het
Cbx7 C T 15: 79,803,074 (GRCm39) G160R probably damaging Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cdca4 G A 12: 112,785,537 (GRCm39) Q64* probably null Het
Cela2a C T 4: 141,546,405 (GRCm39) G178D probably damaging Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Cox7a2 G A 9: 79,665,819 (GRCm39) R21* probably null Het
Crmp1 G A 5: 37,446,155 (GRCm39) G604R probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cxcr1 T C 1: 74,231,161 (GRCm39) D287G probably benign Het
Cyp4a12b T C 4: 115,290,146 (GRCm39) I233T probably benign Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dsg4 C A 18: 20,582,733 (GRCm39) probably null Het
Epha3 A G 16: 63,431,416 (GRCm39) I495T possibly damaging Het
Hmcn1 A T 1: 150,556,466 (GRCm39) M2440K probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Mphosph9 A T 5: 124,421,808 (GRCm39) probably null Het
Mpp3 A G 11: 101,891,401 (GRCm39) V579A probably damaging Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pdgfra A G 5: 75,349,924 (GRCm39) E936G probably damaging Het
Pkd1 T C 17: 24,794,240 (GRCm39) C1976R probably damaging Het
Plekhg5 G A 4: 152,189,188 (GRCm39) R243H probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Rhcg A T 7: 79,249,122 (GRCm39) D366E probably benign Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging Het
Other mutations in Ankrd28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Ankrd28 APN 14 31,465,322 (GRCm39) missense possibly damaging 0.94
IGL01335:Ankrd28 APN 14 31,423,981 (GRCm39) missense probably damaging 0.99
IGL01564:Ankrd28 APN 14 31,477,724 (GRCm39) missense probably damaging 1.00
IGL01624:Ankrd28 APN 14 31,432,814 (GRCm39) missense probably benign 0.00
IGL01987:Ankrd28 APN 14 31,500,931 (GRCm39) missense probably damaging 1.00
IGL02100:Ankrd28 APN 14 31,449,582 (GRCm39) unclassified probably benign
IGL02307:Ankrd28 APN 14 31,455,665 (GRCm39) missense probably damaging 1.00
IGL02656:Ankrd28 APN 14 31,424,197 (GRCm39) missense possibly damaging 0.94
IGL03069:Ankrd28 APN 14 31,477,743 (GRCm39) nonsense probably null
G1citation:Ankrd28 UTSW 14 31,458,797 (GRCm39) critical splice acceptor site probably null
R0038:Ankrd28 UTSW 14 31,429,992 (GRCm39) missense probably damaging 0.99
R0038:Ankrd28 UTSW 14 31,429,992 (GRCm39) missense probably damaging 0.99
R0124:Ankrd28 UTSW 14 31,449,698 (GRCm39) missense probably damaging 1.00
R0347:Ankrd28 UTSW 14 31,423,979 (GRCm39) makesense probably null
R0452:Ankrd28 UTSW 14 31,470,695 (GRCm39) missense probably damaging 1.00
R0685:Ankrd28 UTSW 14 31,465,407 (GRCm39) unclassified probably benign
R0751:Ankrd28 UTSW 14 31,486,225 (GRCm39) missense probably damaging 1.00
R1349:Ankrd28 UTSW 14 31,467,218 (GRCm39) missense probably benign 0.05
R1695:Ankrd28 UTSW 14 31,429,201 (GRCm39) missense probably damaging 1.00
R1888:Ankrd28 UTSW 14 31,453,982 (GRCm39) splice site probably benign
R1938:Ankrd28 UTSW 14 31,427,233 (GRCm39) missense possibly damaging 0.74
R2001:Ankrd28 UTSW 14 31,467,293 (GRCm39) missense possibly damaging 0.94
R2162:Ankrd28 UTSW 14 31,430,719 (GRCm39) missense probably damaging 1.00
R2352:Ankrd28 UTSW 14 31,432,904 (GRCm39) missense probably benign 0.05
R2357:Ankrd28 UTSW 14 31,486,251 (GRCm39) nonsense probably null
R3545:Ankrd28 UTSW 14 31,437,217 (GRCm39) missense probably benign 0.13
R3548:Ankrd28 UTSW 14 31,437,217 (GRCm39) missense probably benign 0.13
R3710:Ankrd28 UTSW 14 31,470,808 (GRCm39) splice site probably benign
R4282:Ankrd28 UTSW 14 31,467,182 (GRCm39) missense possibly damaging 0.74
R4501:Ankrd28 UTSW 14 31,428,753 (GRCm39) missense probably damaging 0.97
R4513:Ankrd28 UTSW 14 31,465,242 (GRCm39) missense probably damaging 1.00
R4658:Ankrd28 UTSW 14 31,432,825 (GRCm39) missense probably damaging 1.00
R4731:Ankrd28 UTSW 14 31,477,698 (GRCm39) missense probably benign 0.43
R4732:Ankrd28 UTSW 14 31,477,698 (GRCm39) missense probably benign 0.43
R4733:Ankrd28 UTSW 14 31,477,698 (GRCm39) missense probably benign 0.43
R4776:Ankrd28 UTSW 14 31,454,011 (GRCm39) missense probably damaging 1.00
R4801:Ankrd28 UTSW 14 31,458,787 (GRCm39) missense probably damaging 1.00
R4802:Ankrd28 UTSW 14 31,458,787 (GRCm39) missense probably damaging 1.00
R5279:Ankrd28 UTSW 14 31,456,963 (GRCm39) missense probably damaging 0.99
R5633:Ankrd28 UTSW 14 31,457,022 (GRCm39) missense probably damaging 1.00
R5809:Ankrd28 UTSW 14 31,465,311 (GRCm39) missense probably benign 0.19
R5959:Ankrd28 UTSW 14 31,451,879 (GRCm39) missense probably benign 0.16
R6228:Ankrd28 UTSW 14 31,429,177 (GRCm39) missense probably damaging 1.00
R6358:Ankrd28 UTSW 14 31,432,821 (GRCm39) missense probably damaging 1.00
R6533:Ankrd28 UTSW 14 31,454,041 (GRCm39) missense possibly damaging 0.49
R6598:Ankrd28 UTSW 14 31,430,896 (GRCm39) missense probably damaging 1.00
R6822:Ankrd28 UTSW 14 31,458,797 (GRCm39) critical splice acceptor site probably null
R7352:Ankrd28 UTSW 14 31,429,998 (GRCm39) missense probably damaging 1.00
R7396:Ankrd28 UTSW 14 31,424,159 (GRCm39) missense probably benign 0.00
R7462:Ankrd28 UTSW 14 31,500,886 (GRCm39) missense probably benign 0.40
R7517:Ankrd28 UTSW 14 31,437,331 (GRCm39) missense possibly damaging 0.65
R7629:Ankrd28 UTSW 14 31,437,221 (GRCm39) missense probably benign 0.00
R7783:Ankrd28 UTSW 14 31,428,770 (GRCm39) missense probably damaging 0.99
R7981:Ankrd28 UTSW 14 31,424,114 (GRCm39) missense probably benign 0.08
R8401:Ankrd28 UTSW 14 31,467,251 (GRCm39) missense probably damaging 1.00
R8483:Ankrd28 UTSW 14 31,457,048 (GRCm39) splice site probably null
R8752:Ankrd28 UTSW 14 31,477,699 (GRCm39) start gained probably benign
R8946:Ankrd28 UTSW 14 31,430,083 (GRCm39) missense probably damaging 1.00
R8963:Ankrd28 UTSW 14 31,477,698 (GRCm39) missense probably benign 0.06
R9064:Ankrd28 UTSW 14 31,454,005 (GRCm39) missense probably damaging 1.00
R9181:Ankrd28 UTSW 14 31,470,627 (GRCm39) missense probably damaging 1.00
R9231:Ankrd28 UTSW 14 31,429,234 (GRCm39) missense possibly damaging 0.91
RF010:Ankrd28 UTSW 14 31,500,943 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- acaggatggcaatcctcactaGATACA -3'
(R):5'- GCACAGTAAGTGGAGTATAGTTGGCCTT -3'

Sequencing Primer
(F):5'- GCAGTATACTAGCTAGTGAAGAGTT -3'
(R):5'- caaggtaaaagggaaagaaggag -3'
Posted On 2014-02-18