Incidental Mutation 'R6358:Ankrd28'
ID 513362
Institutional Source Beutler Lab
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
MMRRC Submission 044508-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R6358 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 31432821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 575 (C575W)
Ref Sequence ENSEMBL: ENSMUSP00000154197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863]
AlphaFold Q505D1
Predicted Effect probably damaging
Transcript: ENSMUST00000014640
AA Change: C729W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: C729W

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: C575W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227613
Predicted Effect probably damaging
Transcript: ENSMUST00000227863
AA Change: C759W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,279,718 (GRCm39) V703A probably benign Het
Adgrv1 T A 13: 81,562,702 (GRCm39) Q5389L probably damaging Het
Aldh18a1 A T 19: 40,566,122 (GRCm39) I42N possibly damaging Het
Car14 T A 3: 95,805,487 (GRCm39) T329S possibly damaging Het
Cdhr2 T C 13: 54,884,359 (GRCm39) F1298S probably damaging Het
Crhr2 A G 6: 55,070,028 (GRCm39) I341T probably benign Het
D5Ertd579e T A 5: 36,773,580 (GRCm39) probably null Het
Eif1ad3 A G 12: 87,843,770 (GRCm39) E139G unknown Het
Emilin1 A G 5: 31,075,562 (GRCm39) E601G probably damaging Het
Erbin T A 13: 103,982,073 (GRCm39) Q456L probably damaging Het
Glp1r T C 17: 31,151,618 (GRCm39) V405A probably benign Het
Gm10220 C G 5: 26,325,303 (GRCm39) probably null Het
Gm527 A T 12: 64,970,322 (GRCm39) H219L possibly damaging Het
Gorasp2 T A 2: 70,503,104 (GRCm39) M1K probably null Het
H2-DMa T A 17: 34,356,958 (GRCm39) L152H probably damaging Het
Hsd3b7 T A 7: 127,400,709 (GRCm39) H54Q probably damaging Het
Hspa12b T C 2: 130,978,986 (GRCm39) probably benign Het
Iars1 C A 13: 49,880,619 (GRCm39) T1006K possibly damaging Het
Jmjd1c T C 10: 67,061,718 (GRCm39) V1357A probably benign Het
Magi3 T C 3: 103,958,268 (GRCm39) M606V probably damaging Het
Mia T C 7: 26,880,403 (GRCm39) D24G probably benign Het
Mon2 A T 10: 122,849,409 (GRCm39) L1297Q probably damaging Het
Musk T A 4: 58,373,171 (GRCm39) S691T possibly damaging Het
Myo5c A T 9: 75,203,294 (GRCm39) E1463D possibly damaging Het
Ndufs6 C T 13: 73,468,438 (GRCm39) G87D probably damaging Het
Npnt C T 3: 132,610,479 (GRCm39) V415I probably benign Het
Ntsr2 A G 12: 16,706,769 (GRCm39) I266V probably benign Het
Or11j4 A T 14: 50,630,845 (GRCm39) I211F possibly damaging Het
Or5aq7 T C 2: 86,938,778 (GRCm39) probably benign Het
Pkmyt1 T A 17: 23,952,630 (GRCm39) probably null Het
Polr1e T C 4: 45,026,813 (GRCm39) L166P probably damaging Het
Ppib T G 9: 65,968,756 (GRCm39) F48C probably damaging Het
Ppl C A 16: 4,905,793 (GRCm39) E1501* probably null Het
Prpf8 T C 11: 75,382,321 (GRCm39) V384A probably benign Het
Ptch1 T G 13: 63,661,503 (GRCm39) S1212R probably damaging Het
Ralb C A 1: 119,403,735 (GRCm39) D131Y probably damaging Het
Rfx4 T A 10: 84,680,099 (GRCm39) M141K probably damaging Het
Rgl2 T A 17: 34,156,105 (GRCm39) probably null Het
Rpl27 A G 11: 101,334,782 (GRCm39) probably benign Het
Sdc1 A C 12: 8,841,297 (GRCm39) T213P probably damaging Het
Setx T A 2: 29,061,360 (GRCm39) N2256K possibly damaging Het
Shank2 A G 7: 143,585,034 (GRCm39) M12V probably benign Het
Slc22a28 T A 19: 8,049,253 (GRCm39) K332M probably damaging Het
Slf2 A T 19: 44,923,864 (GRCm39) H226L probably benign Het
Tbc1d10b T C 7: 126,802,584 (GRCm39) S362G probably benign Het
Tbxas1 G A 6: 38,929,046 (GRCm39) probably benign Het
Tctn1 A G 5: 122,399,575 (GRCm39) V83A probably damaging Het
Tgm4 A G 9: 122,885,583 (GRCm39) E375G probably damaging Het
Tmeff2 T A 1: 51,172,273 (GRCm39) Y247* probably null Het
Tmem167b C T 3: 108,466,211 (GRCm39) R79H possibly damaging Het
Tmprss7 T G 16: 45,489,936 (GRCm39) M429L probably benign Het
Tnfsf18 T A 1: 161,331,148 (GRCm39) D99E probably benign Het
Tnrc18 A T 5: 142,713,736 (GRCm39) S2534T probably damaging Het
Tnxb A G 17: 34,897,968 (GRCm39) E872G probably damaging Het
Tomm40l C T 1: 171,047,206 (GRCm39) V237I possibly damaging Het
Trbv2 A G 6: 41,024,836 (GRCm39) Q84R probably benign Het
Tspan18 T C 2: 93,040,219 (GRCm39) R179G probably benign Het
Tspan8 G T 10: 115,669,132 (GRCm39) V56L probably benign Het
Zbtb22 T C 17: 34,137,711 (GRCm39) S619P probably damaging Het
Zfp2 A T 11: 50,791,428 (GRCm39) I205N probably damaging Het
Zfpm1 A G 8: 123,063,850 (GRCm39) 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
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
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'- TGTTTACTTAGTACCCAGTAGGC -3'
(R):5'- TCACTACTGAACAAAGGAGCAAATG -3'

Sequencing Primer
(F):5'- GCAGACACTCAAAGCAGGTTTTTATC -3'
(R):5'- TTGCACAGAGGGGTGAGCC -3'
Posted On 2018-04-27