Incidental Mutation 'R7462:Ankrd28'
ID 578527
Institutional Source Beutler Lab
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
MMRRC Submission 045536-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R7462 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31500886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 35 (N35S)
Ref Sequence ENSEMBL: ENSMUSP00000014640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863] [ENSMUST00000228037]
AlphaFold Q505D1
Predicted Effect probably benign
Transcript: ENSMUST00000014640
AA Change: N35S

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: N35S

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 probably benign
Transcript: ENSMUST00000227089
Predicted Effect possibly damaging
Transcript: ENSMUST00000227863
AA Change: N65S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000228037
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 G C 3: 126,736,683 (GRCm39) T3067S unknown Het
Bicra A T 7: 15,713,060 (GRCm39) S996T possibly damaging Het
Btbd7 T C 12: 102,803,981 (GRCm39) E353G possibly damaging Het
Cdhr2 A T 13: 54,874,552 (GRCm39) I875F probably damaging Het
Ceacam5 A T 7: 17,494,764 (GRCm39) Y924F probably damaging Het
Clca4b A G 3: 144,628,621 (GRCm39) I362T probably benign Het
Dchs2 A G 3: 83,253,462 (GRCm39) probably null Het
Dlc1 T A 8: 37,405,118 (GRCm39) T224S unknown Het
Dmxl2 T C 9: 54,273,916 (GRCm39) probably null Het
Dnajc1 A G 2: 18,313,710 (GRCm39) F137S probably damaging Het
E130311K13Rik T C 3: 63,836,722 (GRCm39) T24A probably benign Het
Eya1 T C 1: 14,301,638 (GRCm39) E317G probably null Het
Fpr-rs6 A G 17: 20,402,485 (GRCm39) L292P probably damaging Het
Gca G T 2: 62,502,753 (GRCm39) D54Y possibly damaging Het
Gm45861 G A 8: 28,024,517 (GRCm39) probably null Het
Gm57858 T A 3: 36,080,055 (GRCm39) probably null Het
Gtf2a1l A G 17: 89,001,566 (GRCm39) T141A possibly damaging Het
Hgsnat T C 8: 26,447,241 (GRCm39) N351S probably benign Het
Htr1f A T 16: 64,746,383 (GRCm39) V303E probably damaging Het
Iars2 C A 1: 185,055,063 (GRCm39) W302L probably damaging Het
Igkv4-74 T A 6: 69,162,100 (GRCm39) Q23L possibly damaging Het
Il18 A T 9: 50,476,673 (GRCm39) probably benign Het
Ints4 A G 7: 97,155,335 (GRCm39) D329G probably benign Het
Itsn1 T C 16: 91,650,073 (GRCm39) F249S possibly damaging Het
Ktn1 A G 14: 47,932,089 (GRCm39) E672G probably null Het
Lhx6 A G 2: 35,974,083 (GRCm39) I359T possibly damaging Het
Lrp1b T C 2: 41,003,041 (GRCm39) E2030G Het
Macf1 T A 4: 123,386,556 (GRCm39) K1114N probably damaging Het
Mbd5 A G 2: 49,147,892 (GRCm39) M701V possibly damaging Het
Mcemp1 A T 8: 3,717,065 (GRCm39) M69L probably benign Het
Mfsd4b2 T A 10: 39,797,877 (GRCm39) K159N probably benign Het
Mroh2b T A 15: 4,938,109 (GRCm39) D243E probably damaging Het
Muc21 T C 17: 35,931,568 (GRCm39) S873G unknown Het
Mug1 A T 6: 121,852,399 (GRCm39) Q829L probably benign Het
Nav3 A T 10: 109,659,439 (GRCm39) V726E probably damaging Het
Nfib T C 4: 82,271,826 (GRCm39) Q247R probably benign Het
Npbwr1 T C 1: 5,987,151 (GRCm39) N121S probably damaging Het
Or1e19 T C 11: 73,316,296 (GRCm39) D171G probably benign Het
Or52b2 T A 7: 104,986,707 (GRCm39) D72V probably damaging Het
Or5h19 A T 16: 58,856,379 (GRCm39) C240* probably null Het
Pkd1l3 A G 8: 110,355,409 (GRCm39) S726G probably benign Het
Ppip5k1 A T 2: 121,167,232 (GRCm39) V847D probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Ripor2 G A 13: 24,880,290 (GRCm39) V385M unknown Het
Rufy1 C T 11: 50,298,655 (GRCm39) V379M possibly damaging Het
S100a5 A G 3: 90,517,207 (GRCm39) K26R probably damaging Het
Sin3a T C 9: 57,002,809 (GRCm39) S234P probably benign Het
Sirt7 G A 11: 120,511,618 (GRCm39) T225I probably benign Het
Slc34a1 A T 13: 24,006,401 (GRCm39) T476S probably damaging Het
Slc38a6 T A 12: 73,397,351 (GRCm39) M331K probably benign Het
Spam1 T C 6: 24,796,907 (GRCm39) I286T probably damaging Het
Syne1 T A 10: 5,002,793 (GRCm39) I214F possibly damaging Het
Tmtc1 A G 6: 148,226,643 (GRCm39) L427P probably damaging Het
Tpbg G A 9: 85,726,903 (GRCm39) A291T possibly damaging Het
Zfp40 A G 17: 23,397,362 (GRCm39) F45S possibly damaging Het
Zfp451 C T 1: 33,816,094 (GRCm39) V619M probably damaging Het
Zim1 A G 7: 6,680,811 (GRCm39) L284P probably damaging Het
Zkscan4 A G 13: 21,668,044 (GRCm39) E165G probably benign Het
Zmynd11 T A 13: 9,748,720 (GRCm39) N154Y probably benign Het
Zscan12 A T 13: 21,553,457 (GRCm39) H427L 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
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
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
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'- AGTGAGACTCTCCTGCCTTC -3'
(R):5'- AGTCCTGCAGAAATGTCTTTACATC -3'

Sequencing Primer
(F):5'- GCCTTCTCTAAAAACAACTGTTGCAG -3'
(R):5'- CTATGCTGAATGATGTGATTGACGC -3'
Posted On 2019-10-07