Incidental Mutation 'R4513:Ankrd28'
ID 334531
Institutional Source Beutler Lab
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
MMRRC Submission 041759-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R4513 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31465242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 312 (S312T)
Ref Sequence ENSEMBL: ENSMUSP00000153992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863] [ENSMUST00000227878] [ENSMUST00000228037]
AlphaFold Q505D1
Predicted Effect probably damaging
Transcript: ENSMUST00000014640
AA Change: S282T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: S282T

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 damaging
Transcript: ENSMUST00000227089
AA Change: S128T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227307
Predicted Effect probably damaging
Transcript: ENSMUST00000227863
AA Change: S312T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227878
Predicted Effect probably benign
Transcript: ENSMUST00000228037
Meta Mutation Damage Score 0.2745 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,717,947 (GRCm39) I320V probably benign Het
Akap6 T C 12: 52,842,787 (GRCm39) V45A probably benign Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Cfap96 G T 8: 46,421,175 (GRCm39) T116K probably damaging Het
Cntn3 A T 6: 102,145,943 (GRCm39) I966N probably benign Het
D630003M21Rik T C 2: 158,046,722 (GRCm39) T752A probably benign Het
Dmxl2 A C 9: 54,327,168 (GRCm39) S952R probably null Het
Dop1a G A 9: 86,402,612 (GRCm39) E1271K probably benign Het
Fgfr3 A G 5: 33,880,460 (GRCm39) probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Got1l1 C T 8: 27,688,513 (GRCm39) M279I probably benign Het
Guf1 T C 5: 69,719,005 (GRCm39) V230A probably benign Het
Hsd17b14 C T 7: 45,212,339 (GRCm39) L124F probably benign Het
Id3 G T 4: 135,871,669 (GRCm39) probably benign Het
Itga8 T C 2: 12,187,547 (GRCm39) S711G probably benign Het
Lgr4 T C 2: 109,842,361 (GRCm39) M782T possibly damaging Het
Lsm12 T C 11: 102,057,909 (GRCm39) probably null Het
Map1b T A 13: 99,580,741 (GRCm39) D117V probably damaging Het
Map3k11 A G 19: 5,752,238 (GRCm39) T807A probably damaging Het
Mapk14 T C 17: 28,943,798 (GRCm39) F129S probably damaging Het
Mapkbp1 T A 2: 119,854,174 (GRCm39) I1257N possibly damaging Het
Mcm3 A G 1: 20,880,456 (GRCm39) Y459H probably damaging Het
Mkln1 T C 6: 31,410,093 (GRCm39) probably benign Het
Msh5 A T 17: 35,249,664 (GRCm39) I627N possibly damaging Het
Nfkbiz T C 16: 55,637,204 (GRCm39) H488R probably benign Het
Nrg1 G T 8: 32,967,105 (GRCm39) probably benign Het
Or1j19 A G 2: 36,676,782 (GRCm39) M82V probably benign Het
Or51q1 T C 7: 103,628,648 (GRCm39) V89A probably benign Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5b120 A T 19: 13,479,986 (GRCm39) Y93F probably benign Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Plekhg4 T A 8: 106,107,034 (GRCm39) C910S probably damaging Het
Ppp1r18 A G 17: 36,179,196 (GRCm39) E357G probably damaging Het
Pramel23 T C 4: 143,424,718 (GRCm39) M242V probably benign Het
Rbm11 T C 16: 75,393,475 (GRCm39) F57S probably damaging Het
Sbp G A 17: 24,164,286 (GRCm39) G183D probably benign Het
Skint5 A G 4: 113,599,382 (GRCm39) V719A unknown Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Slc29a1 A C 17: 45,899,992 (GRCm39) Y232* probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Spanxn4 A T 12: 62,734,886 (GRCm39) noncoding transcript Het
Spata31d1d T C 13: 59,876,368 (GRCm39) Q389R probably benign Het
Srgap1 A G 10: 121,706,231 (GRCm39) probably null Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Tle2 A G 10: 81,423,394 (GRCm39) D491G probably damaging Het
Tmem33 T C 5: 67,443,468 (GRCm39) V215A probably benign Het
Trav6-3 A G 14: 53,667,548 (GRCm39) T7A probably benign Het
Ube2q2 C A 9: 55,057,084 (GRCm39) P56T probably benign Het
Unc79 T C 12: 102,988,019 (GRCm39) V208A probably damaging Het
Xkr7 T C 2: 152,896,553 (GRCm39) I469T probably benign 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
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'- CCATGTTCATAAGTTTACTAGTGGATC -3'
(R):5'- ACATTCTCTAAGTGTATGTAGCCC -3'

Sequencing Primer
(F):5'- CTAGTGGATCCTTTATAATTCTGG -3'
(R):5'- TGTAGCCCATATAAAACTAAGTTGC -3'
Posted On 2015-08-18