Incidental Mutation 'R5959:Ankrd28'
ID 471373
Institutional Source Beutler Lab
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
MMRRC Submission 044146-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R5959 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31451879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 273 (T273A)
Ref Sequence ENSEMBL: ENSMUSP00000154197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863] [ENSMUST00000227878]
AlphaFold Q505D1
Predicted Effect probably benign
Transcript: ENSMUST00000014640
AA Change: T427A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: T427A

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: ENSMUST00000227083
Predicted Effect probably benign
Transcript: ENSMUST00000227089
AA Change: T273A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227307
Predicted Effect probably benign
Transcript: ENSMUST00000227863
AA Change: T457A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000227878
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,106,792 (GRCm39) N164Y probably damaging Het
Acp6 A G 3: 97,073,888 (GRCm39) E164G probably damaging Het
Adcy5 A T 16: 35,118,780 (GRCm39) I1044F probably damaging Het
Ahcyl2 A G 6: 29,886,173 (GRCm39) D363G probably damaging Het
Cc2d1a A T 8: 84,860,132 (GRCm39) Y862* probably null Het
Cfap221 T A 1: 119,860,511 (GRCm39) H705L probably damaging Het
Cfap61 C T 2: 145,789,053 (GRCm39) T19M probably benign Het
Chga T C 12: 102,528,114 (GRCm39) S202P probably benign Het
Cnmd T C 14: 79,894,109 (GRCm39) I93V probably damaging Het
Cpne1 G A 2: 155,920,143 (GRCm39) S188L probably benign Het
Dchs2 G A 3: 83,232,725 (GRCm39) V2237I probably benign Het
Dguok C T 6: 83,467,574 (GRCm39) R91H probably benign Het
Eed A G 7: 89,618,835 (GRCm39) I193T probably damaging Het
Fasn C T 11: 120,699,390 (GRCm39) E2353K probably damaging Het
Fpr-rs7 G A 17: 20,334,011 (GRCm39) H160Y probably benign Het
Gramd4 T A 15: 86,011,758 (GRCm39) M272K probably damaging Het
Hfm1 A G 5: 107,022,783 (GRCm39) S940P probably damaging Het
Ifnlr1 T A 4: 135,432,652 (GRCm39) S363T possibly damaging Het
Jak3 A G 8: 72,134,715 (GRCm39) N481D probably damaging Het
Kcnj3 A G 2: 55,327,330 (GRCm39) K40E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Lpcat4 T A 2: 112,070,380 (GRCm39) L31H possibly damaging Het
Myo1c A G 11: 75,548,345 (GRCm39) T38A probably benign Het
Myt1l T C 12: 29,970,039 (GRCm39) probably null Het
Nbas T C 12: 13,338,802 (GRCm39) V214A probably damaging Het
Neb C A 2: 52,046,389 (GRCm39) R6537L probably benign Het
Nwd2 T A 5: 63,965,413 (GRCm39) F1666I probably benign Het
Or52z1 T A 7: 103,436,723 (GRCm39) I254F probably damaging Het
Or8b1 A G 9: 38,400,207 (GRCm39) N294S probably damaging Het
Prmt8 C A 6: 127,706,381 (GRCm39) V137L probably damaging Het
Ptpn21 A T 12: 98,675,148 (GRCm39) probably null Het
Rab15 A G 12: 76,869,043 (GRCm39) S17P probably damaging Het
Rbm5 T G 9: 107,629,339 (GRCm39) I338L probably benign Het
Rragc G A 4: 123,817,767 (GRCm39) S218N probably damaging Het
Sacs T C 14: 61,449,849 (GRCm39) M3965T probably damaging Het
Sgo2b T A 8: 64,380,322 (GRCm39) I837F probably benign Het
Sorcs3 T G 19: 48,737,835 (GRCm39) C751G probably damaging Het
Sowahc A G 10: 59,058,920 (GRCm39) D352G probably benign Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Spata31f1e T A 4: 42,793,492 (GRCm39) K213N probably damaging Het
Srr A G 11: 74,801,891 (GRCm39) V126A possibly damaging Het
Tenm3 T A 8: 49,099,482 (GRCm39) R108* probably null Het
Traf3ip2 A T 10: 39,517,337 (GRCm39) M403L probably benign Het
Trappc11 T C 8: 47,954,593 (GRCm39) D949G probably damaging Het
Ttn A G 2: 76,544,960 (GRCm39) I32714T probably damaging Het
Ttn T A 2: 76,693,849 (GRCm39) T218S possibly damaging Het
Uaca A T 9: 60,778,052 (GRCm39) H811L probably damaging Het
Ugt2b1 T C 5: 87,073,813 (GRCm39) E182G probably benign Het
Vmn1r49 T C 6: 90,049,786 (GRCm39) D72G probably damaging Het
Vmn2r80 A T 10: 79,005,313 (GRCm39) M317L probably benign Het
Vwa2 T C 19: 56,869,604 (GRCm39) L13P possibly damaging Het
Zc3hav1 G A 6: 38,284,379 (GRCm39) T912I probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp948 A G 17: 21,807,776 (GRCm39) K323E probably benign Het
Zfyve27 T G 19: 42,167,887 (GRCm39) V143G unknown 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
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
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'- TGAGGAAGATAAGCCACATACC -3'
(R):5'- TCATGTGCCAGTATTTATGCATATC -3'

Sequencing Primer
(F):5'- AGGCCCTACTTCAGATTCTTAAGG -3'
(R):5'- ATGCTTCTTAAAGCCTACC -3'
Posted On 2017-03-31