Incidental Mutation 'IGL02307:Ankrd28'
ID 287656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # IGL02307
Quality Score
Status
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31455665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 417 (C417R)
Ref Sequence ENSEMBL: ENSMUSP00000153992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863] [ENSMUST00000227878]
AlphaFold Q505D1
Predicted Effect probably damaging
Transcript: ENSMUST00000014640
AA Change: C387R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: C387R

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 damaging
Transcript: ENSMUST00000227089
AA Change: C233R

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: C417R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227878
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Bdp1 C A 13: 100,229,946 (GRCm39) G256V probably damaging Het
Cald1 A G 6: 34,730,390 (GRCm39) K252E probably damaging Het
Ccdc141 T C 2: 76,859,686 (GRCm39) E985G probably damaging Het
Cdc23 A G 18: 34,774,442 (GRCm39) I279T possibly damaging Het
Col16a1 C T 4: 129,952,802 (GRCm39) P416L probably damaging Het
Coro1a T C 7: 126,300,736 (GRCm39) D197G probably damaging Het
Ctnnd2 C T 15: 30,647,357 (GRCm39) T351I possibly damaging Het
Fam76b A G 9: 13,755,332 (GRCm39) N313S probably damaging Het
Fbxw20 C A 9: 109,062,601 (GRCm39) W75L possibly damaging Het
Gjd2 T C 2: 113,842,394 (GRCm39) T28A possibly damaging Het
Glyctk A C 9: 106,032,963 (GRCm39) L350R possibly damaging Het
Gm20726 A T 14: 54,870,060 (GRCm39) V237D probably damaging Het
Gm57858 T C 3: 36,073,016 (GRCm39) K422R possibly damaging Het
Gpr22 C A 12: 31,758,739 (GRCm39) C461F possibly damaging Het
Grhl2 A G 15: 37,288,532 (GRCm39) T279A probably damaging Het
Gstm3 G A 3: 107,874,929 (GRCm39) R108C probably damaging Het
Haus6 T C 4: 86,502,072 (GRCm39) T600A possibly damaging Het
Htra4 G A 8: 25,523,710 (GRCm39) A285V probably damaging Het
Igkv14-100 C T 6: 68,496,349 (GRCm39) P81S probably damaging Het
Kif24 T G 4: 41,395,274 (GRCm39) Q533P probably benign Het
Klhl1 A T 14: 96,438,809 (GRCm39) N496K possibly damaging Het
Lama3 G T 18: 12,714,840 (GRCm39) R1667L probably benign Het
Lct T A 1: 128,214,327 (GRCm39) H1815L possibly damaging Het
Mrgprb2 T A 7: 48,202,644 (GRCm39) Y27F probably benign Het
Mrpl15 A T 1: 4,854,176 (GRCm39) H86Q possibly damaging Het
Myo10 C T 15: 25,776,401 (GRCm39) probably benign Het
Nrp1 T C 8: 129,229,201 (GRCm39) L893P probably damaging Het
Or4n4b A C 14: 50,536,295 (GRCm39) I157S probably damaging Het
Or51a8 A T 7: 102,550,086 (GRCm39) N171Y probably benign Het
Ovol1 T A 19: 5,603,643 (GRCm39) D86V possibly damaging Het
Pacs2 T A 12: 113,034,393 (GRCm39) M851K probably damaging Het
Pde1a A T 2: 79,736,412 (GRCm39) M39K possibly damaging Het
Pdpn T C 4: 143,000,550 (GRCm39) H94R possibly damaging Het
Plcg2 T A 8: 118,306,635 (GRCm39) probably null Het
Pzp A T 6: 128,466,049 (GRCm39) Y1210* probably null Het
Rnf148 G T 6: 23,654,890 (GRCm39) S35R probably benign Het
Ros1 A T 10: 52,004,534 (GRCm39) S1008T possibly damaging Het
Rps18-ps6 G T 13: 97,896,871 (GRCm39) Q76K probably benign Het
Sis A T 3: 72,819,167 (GRCm39) probably benign Het
Spag9 T A 11: 93,992,986 (GRCm39) probably null Het
Srbd1 A G 17: 86,433,616 (GRCm39) L327P probably damaging Het
Steap3 A T 1: 120,169,390 (GRCm39) Y264* probably null Het
Swap70 A G 7: 109,880,501 (GRCm39) E572G probably benign Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trmt11 T C 10: 30,470,150 (GRCm39) D58G possibly damaging Het
Tsc22d1 T C 14: 76,653,901 (GRCm39) S127P probably damaging Het
Usf1 T A 1: 171,243,314 (GRCm39) S30R probably damaging Het
Ush1c A G 7: 45,846,612 (GRCm39) probably benign Het
Utrn A T 10: 12,625,809 (GRCm39) L124* probably null Het
Vmn2r75 T C 7: 85,814,974 (GRCm39) N173S probably benign Het
Zic2 T C 14: 122,714,046 (GRCm39) V320A 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
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
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
Posted On 2015-04-16