Incidental Mutation 'IGL01335:Ankrd28'
ID 74597
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 # IGL01335
Quality Score
Status
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31423981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1083 (Y1083C)
Ref Sequence ENSEMBL: ENSMUSP00000153992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863]
AlphaFold Q505D1
Predicted Effect probably damaging
Transcript: ENSMUST00000014640
AA Change: Y1053C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: Y1053C

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 damaging
Transcript: ENSMUST00000227089
AA Change: Y899C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227613
Predicted Effect probably damaging
Transcript: ENSMUST00000227863
AA Change: Y1083C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,284,307 (GRCm39) M300K possibly damaging Het
Adamts14 T A 10: 61,034,460 (GRCm39) R1143W possibly damaging Het
Anxa8 T C 14: 33,811,547 (GRCm39) M34T probably damaging Het
Aox1 G T 1: 58,121,312 (GRCm39) E928* probably null Het
Atp8b5 T A 4: 43,302,628 (GRCm39) F50L possibly damaging Het
Brpf1 A G 6: 113,296,298 (GRCm39) S863G probably damaging Het
Cdc42bpb A G 12: 111,260,530 (GRCm39) probably benign Het
Cdh6 C T 15: 13,051,395 (GRCm39) A413T probably benign Het
Cfap96 A T 8: 46,426,642 (GRCm39) probably benign Het
Cfap97 A G 8: 46,623,492 (GRCm39) Q294R probably damaging Het
Cit C T 5: 116,046,889 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,690,497 (GRCm39) Y736C possibly damaging Het
Eno2 C T 6: 124,743,618 (GRCm39) G107E probably damaging Het
Gja8 T C 3: 96,826,558 (GRCm39) Q368R probably benign Het
Gm3633 T A 14: 42,462,595 (GRCm39) probably benign Het
Gm4987 A T X: 45,544,755 (GRCm39) noncoding transcript Het
Gna13 G A 11: 109,256,569 (GRCm39) R164Q probably damaging Het
Grhl1 A T 12: 24,658,057 (GRCm39) E351D probably damaging Het
Idua A G 5: 108,828,737 (GRCm39) Q280R probably benign Het
Igsf5 T A 16: 96,174,353 (GRCm39) probably benign Het
Mrpl52 T C 14: 54,664,656 (GRCm39) Y39H probably damaging Het
Naa16 A T 14: 79,582,556 (GRCm39) probably benign Het
Naa35 T A 13: 59,764,610 (GRCm39) L338Q probably damaging Het
Nat8l A T 5: 34,155,791 (GRCm39) Y149F probably benign Het
Nck1 A T 9: 100,379,790 (GRCm39) W154R probably damaging Het
Ncoa1 A T 12: 4,347,520 (GRCm39) S351R probably benign Het
Or10w1 A T 19: 13,632,540 (GRCm39) H249L probably damaging Het
Or12e10 A T 2: 87,640,790 (GRCm39) T209S probably damaging Het
Or6c8b T C 10: 128,882,380 (GRCm39) K184R probably benign Het
Or8k1 A T 2: 86,047,916 (GRCm39) L46Q probably damaging Het
Pacs1 A T 19: 5,192,660 (GRCm39) V624E probably damaging Het
Pde6b G A 5: 108,571,379 (GRCm39) R444H probably benign Het
Pigk A T 3: 152,448,173 (GRCm39) T226S probably benign Het
Prkdc T C 16: 15,634,760 (GRCm39) probably null Het
Ptbp1 G A 10: 79,698,708 (GRCm39) probably null Het
Pyroxd1 T C 6: 142,307,484 (GRCm39) V418A probably damaging Het
Rhot1 A T 11: 80,141,055 (GRCm39) D421V probably damaging Het
Rimkla T C 4: 119,335,156 (GRCm39) T76A possibly damaging Het
Rtn1 A G 12: 72,355,124 (GRCm39) V274A probably benign Het
Tatdn2 T A 6: 113,681,017 (GRCm39) M289K probably benign Het
Trak1 A G 9: 121,283,382 (GRCm39) T476A possibly damaging Het
Ube2i C A 17: 25,488,410 (GRCm39) Q11H probably damaging Het
Ugt2a3 A T 5: 87,484,644 (GRCm39) C127S probably damaging Het
Uimc1 T A 13: 55,182,724 (GRCm39) Q619L probably benign Het
Upk3a T A 15: 84,903,786 (GRCm39) Y162N probably damaging Het
Usp33 T C 3: 152,097,854 (GRCm39) S849P probably damaging Het
Vmn2r120 G A 17: 57,832,732 (GRCm39) T149I possibly damaging Het
Vmn2r15 G A 5: 109,434,602 (GRCm39) P701S possibly damaging Het
Vmn2r28 T C 7: 5,484,087 (GRCm39) I704M possibly damaging Het
Wdhd1 T C 14: 47,488,239 (GRCm39) E756G possibly damaging Het
Xlr3c C A X: 72,303,639 (GRCm39) V102F probably benign Het
Zfp384 T G 6: 125,002,016 (GRCm39) D220E probably benign Het
Zfp521 A T 18: 13,977,776 (GRCm39) V879E probably benign Het
Other mutations in Ankrd28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Ankrd28 APN 14 31,465,322 (GRCm39) missense possibly damaging 0.94
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
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 2013-10-07