Incidental Mutation 'R4501:Ankrd28'
ID 331826
Institutional Source Beutler Lab
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
MMRRC Submission 041753-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R4501 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31428753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 956 (L956S)
Ref Sequence ENSEMBL: ENSMUSP00000153992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863]
AlphaFold Q505D1
Predicted Effect probably benign
Transcript: ENSMUST00000014640
AA Change: L926S

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: L926S

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 possibly damaging
Transcript: ENSMUST00000227089
AA Change: L772S

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227613
Predicted Effect probably damaging
Transcript: ENSMUST00000227863
AA Change: L956S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.6693 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A G 14: 54,924,044 (GRCm39) V65A probably damaging Het
Atp2a1 G A 7: 126,052,555 (GRCm39) T388I probably benign Het
AU018091 A G 7: 3,208,919 (GRCm39) V389A probably benign Het
Cdh2 A G 18: 16,762,642 (GRCm39) V434A possibly damaging Het
Dennd4a G A 9: 64,817,405 (GRCm39) D1680N possibly damaging Het
Dnah2 T A 11: 69,368,485 (GRCm39) M1717L probably benign Het
Dusp6 T A 10: 99,100,457 (GRCm39) L151Q probably benign Het
Hc A T 2: 34,887,488 (GRCm39) probably null Het
Hmcn1 A T 1: 150,509,417 (GRCm39) S3644T probably damaging Het
Kcnt2 T C 1: 140,480,718 (GRCm39) I761T probably damaging Het
Mmd2 A G 5: 142,560,965 (GRCm39) V90A probably benign Het
Ncf2 C G 1: 152,710,784 (GRCm39) Q432E probably benign Het
Nxn T C 11: 76,165,438 (GRCm39) E172G probably damaging Het
P2ry12 A G 3: 59,125,078 (GRCm39) I199T probably damaging Het
Phldb3 A G 7: 24,311,986 (GRCm39) E100G probably benign Het
Pidd1 A G 7: 141,021,356 (GRCm39) probably benign Het
Pldi G T 10: 60,764,188 (GRCm39) noncoding transcript Het
Plk5 T C 10: 80,195,305 (GRCm39) C208R probably benign Het
Ptpn12 G T 5: 21,224,278 (GRCm39) A105E probably damaging Het
Pusl1 T C 4: 155,973,999 (GRCm39) T252A probably benign Het
Rpl13a T C 7: 44,775,564 (GRCm39) H95R probably benign Het
Sh3d21 GAATCTCCTGGGAAAATC GAATC 4: 126,056,652 (GRCm39) probably null Het
Slc30a4 A G 2: 122,527,136 (GRCm39) I370T probably benign Het
Taf1c A G 8: 120,326,168 (GRCm39) F565L probably damaging Het
Tdrd9 A G 12: 112,009,243 (GRCm39) K1050E probably benign Het
Tnrc6c T A 11: 117,613,324 (GRCm39) L494Q probably damaging Het
Ttn T A 2: 76,624,991 (GRCm39) I13450L possibly damaging Het
Usp34 C A 11: 23,351,529 (GRCm39) P1439Q probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn1r80 A G 7: 11,927,318 (GRCm39) N143D probably benign Het
Zbtb44 G A 9: 30,965,462 (GRCm39) V291I probably 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
R1372: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
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'- GCACTTTTCAGAACAGCATTACCTTC -3'
(R):5'- CCTTAGGAAAATTGTATCTGTGCG -3'

Sequencing Primer
(F):5'- CAGAACAGCATTACCTTCCTTTAG -3'
(R):5'- CCACAATTTTAGGGTCATGAAA -3'
Posted On 2015-07-21