Incidental Mutation 'R0452:Ankrd28'
ID 39715
Institutional Source Beutler Lab
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
MMRRC Submission 038652-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R0452 (G1)
Quality Score 141
Status Validated
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31470695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 153 (A153S)
Ref Sequence ENSEMBL: ENSMUSP00000153992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863] [ENSMUST00000228037]
AlphaFold Q505D1
Predicted Effect probably damaging
Transcript: ENSMUST00000014640
AA Change: A123S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: A123S

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: ENSMUST00000227034
Predicted Effect probably benign
Transcript: ENSMUST00000227089
Predicted Effect probably damaging
Transcript: ENSMUST00000227863
AA Change: A153S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228037
AA Change: A95S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.2532 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 99% (93/94)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030452D12Rik A G 8: 107,233,822 (GRCm39) probably benign Het
Acap3 C A 4: 155,986,785 (GRCm39) S347* probably null Het
Acvr1 G A 2: 58,390,507 (GRCm39) P19L probably benign Het
Add2 G T 6: 86,081,611 (GRCm39) E366* probably null Het
Anxa8 A T 14: 33,816,727 (GRCm39) I206F probably damaging Het
Arhgef4 G A 1: 34,771,403 (GRCm39) E1237K probably damaging Het
Arid1a C T 4: 133,416,416 (GRCm39) A1120T unknown Het
Atad5 T C 11: 79,997,247 (GRCm39) V857A probably damaging Het
Atp2a3 T A 11: 72,868,058 (GRCm39) probably null Het
Atxn1l C T 8: 110,459,027 (GRCm39) V412I possibly damaging Het
Card11 A G 5: 140,866,125 (GRCm39) S923P probably benign Het
Cars1 C A 7: 143,146,362 (GRCm39) E21* probably null Het
Ccdc115 A G 1: 34,476,702 (GRCm39) probably benign Het
Ccnj T A 19: 40,833,508 (GRCm39) probably null Het
Cds2 C T 2: 132,140,399 (GRCm39) T182I probably damaging Het
Ceacam14 A G 7: 17,549,248 (GRCm39) H213R probably benign Het
Cfap44 A T 16: 44,252,308 (GRCm39) M806L probably benign Het
Chd8 A T 14: 52,452,044 (GRCm39) I1317K probably damaging Het
Cherp A T 8: 73,215,366 (GRCm39) probably benign Het
Creb5 C G 6: 53,581,527 (GRCm39) T30S possibly damaging Het
Csf2ra A G 19: 61,215,333 (GRCm39) M94T probably benign Het
Cyp2b19 A C 7: 26,466,187 (GRCm39) D330A probably benign Het
Ddost G A 4: 138,037,499 (GRCm39) V188M possibly damaging Het
Dnah7a A T 1: 53,644,978 (GRCm39) D1019E probably benign Het
Dtx1 A T 5: 120,833,057 (GRCm39) I127N possibly damaging Het
Dyrk2 T C 10: 118,704,668 (GRCm39) T3A possibly damaging Het
Elovl5 C T 9: 77,868,193 (GRCm39) T35M probably damaging Het
Emc7 T C 2: 112,297,314 (GRCm39) probably benign Het
Erp27 T C 6: 136,886,487 (GRCm39) Y182C probably damaging Het
Exoc2 T A 13: 31,070,310 (GRCm39) probably benign Het
F5 A C 1: 164,012,676 (GRCm39) D530A probably damaging Het
Fam149a A T 8: 45,808,686 (GRCm39) V149E probably damaging Het
Fbxo41 A G 6: 85,455,164 (GRCm39) S614P probably damaging Het
Fmn1 T A 2: 113,467,124 (GRCm39) Y1342N possibly damaging Het
Gpr22 T A 12: 31,758,793 (GRCm39) D443V possibly damaging Het
Il17rd T A 14: 26,813,888 (GRCm39) W56R probably damaging Het
Itga2b A T 11: 102,356,779 (GRCm39) probably null Het
Jmjd1c T C 10: 67,091,261 (GRCm39) M2514T probably benign Het
Klk1b9 T C 7: 43,443,675 (GRCm39) probably benign Het
Krr1 T C 10: 111,811,503 (GRCm39) Y66H probably damaging Het
Lamb2 T C 9: 108,363,553 (GRCm39) probably benign Het
Lgals3bp A T 11: 118,284,290 (GRCm39) Y430N probably benign Het
Lrp10 T C 14: 54,705,036 (GRCm39) V113A probably benign Het
Mgam A G 6: 40,736,024 (GRCm39) Y841C probably damaging Het
Nisch T A 14: 30,899,421 (GRCm39) probably benign Het
Nlrp4d G A 7: 10,112,219 (GRCm39) T650I probably benign Het
Or4f61 T A 2: 111,922,981 (GRCm39) K22* probably null Het
Or5p78 C T 7: 108,211,577 (GRCm39) T21I possibly damaging Het
Parp4 A G 14: 56,886,300 (GRCm39) D1793G unknown Het
Pcm1 A G 8: 41,778,942 (GRCm39) D1850G probably benign Het
Pgap2 G A 7: 101,885,669 (GRCm39) A145T probably damaging Het
Phc1 G A 6: 122,299,995 (GRCm39) A583V probably damaging Het
Plcd3 G A 11: 102,962,085 (GRCm39) probably benign Het
Ppm1m T A 9: 106,074,501 (GRCm39) Q214L probably damaging Het
Prkg2 A G 5: 99,145,379 (GRCm39) probably benign Het
Prss3l A G 6: 41,422,271 (GRCm39) Y45H probably benign Het
Rasal3 T C 17: 32,614,791 (GRCm39) probably benign Het
Rfc1 A T 5: 65,421,640 (GRCm39) D1086E probably benign Het
Rnf145 T A 11: 44,452,587 (GRCm39) L522H probably damaging Het
Setd2 T A 9: 110,382,168 (GRCm39) probably null Het
Sik1 C A 17: 32,068,055 (GRCm39) V377F possibly damaging Het
Slc44a4 T C 17: 35,147,071 (GRCm39) I367T possibly damaging Het
Slfn3 A G 11: 83,103,954 (GRCm39) D275G possibly damaging Het
Smarcad1 A T 6: 65,051,806 (GRCm39) N313I possibly damaging Het
Smc4 A T 3: 68,915,361 (GRCm39) K138* probably null Het
Smg6 T A 11: 74,821,039 (GRCm39) S437T probably benign Het
Spaca9 G T 2: 28,586,005 (GRCm39) Q20K probably damaging Het
Spatc1 T G 15: 76,152,493 (GRCm39) I41S probably damaging Het
Spink5 A T 18: 44,096,385 (GRCm39) T5S possibly damaging Het
St3gal1 C A 15: 66,981,504 (GRCm39) probably benign Het
Stat5a C A 11: 100,753,961 (GRCm39) T97K probably benign Het
Stat5b A T 11: 100,689,156 (GRCm39) I246N probably benign Het
Supt6 G T 11: 78,117,829 (GRCm39) D462E probably damaging Het
Swi5 A T 2: 32,171,836 (GRCm39) probably benign Het
Syne1 A T 10: 5,355,435 (GRCm39) V375E probably damaging Het
Tcp1 T C 17: 13,143,239 (GRCm39) F516S probably benign Het
Tdrd7 A T 4: 45,965,488 (GRCm39) probably benign Het
Tgfbr3 A T 5: 107,288,289 (GRCm39) N457K probably benign Het
Tmem209 A G 6: 30,487,380 (GRCm39) M500T probably damaging Het
Tmem44 C T 16: 30,336,281 (GRCm39) probably benign Het
Ttc21a T A 9: 119,768,220 (GRCm39) probably benign Het
Ttn A G 2: 76,701,454 (GRCm39) probably benign Het
Ttn T A 2: 76,666,347 (GRCm39) I88F possibly damaging Het
Ube2w T C 1: 16,672,479 (GRCm39) probably benign Het
Ufc1 C T 1: 171,117,527 (GRCm39) probably benign Het
Uhmk1 A G 1: 170,039,971 (GRCm39) M132T possibly damaging Het
Usp29 A G 7: 6,966,181 (GRCm39) N675D possibly damaging Het
Vmn1r23 A G 6: 57,903,469 (GRCm39) V103A possibly damaging Het
Wdr59 G T 8: 112,248,604 (GRCm39) R4S possibly damaging Het
Zc3hav1 T A 6: 38,284,372 (GRCm39) E914D 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
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
Predicted Primers PCR Primer
(F):5'- TCCCTGCACTTCCTTGACAATGAC -3'
(R):5'- AACCAGACCTAGTGATTCTTTTCCACG -3'

Sequencing Primer
(F):5'- TTGGACCACTTACATCACTGGAG -3'
(R):5'- TGTGACACATAACTTTGAGAGATGAG -3'
Posted On 2013-05-23