Incidental Mutation 'R0038:Ankrd28'
ID 32837
Institutional Source Beutler Lab
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
MMRRC Submission 038332-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R0038 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31429992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 892 (M892K)
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: M862K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: M862K

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: M708K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227613
Predicted Effect probably damaging
Transcript: ENSMUST00000227863
AA Change: M892K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.4349 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,863,823 (GRCm39) probably benign Het
Arhgef25 T C 10: 127,022,734 (GRCm39) probably benign Het
Arl9 G A 5: 77,154,322 (GRCm39) E17K probably benign Het
Bbs9 G A 9: 22,415,390 (GRCm39) V105I probably benign Het
Celsr1 A T 15: 85,813,620 (GRCm39) N1997K possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cldn8 A G 16: 88,359,922 (GRCm39) M1T probably null Het
Clec11a A G 7: 43,955,906 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col19a1 A T 1: 24,598,825 (GRCm39) L56Q unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyp2b10 G A 7: 25,614,287 (GRCm39) A254T probably benign Het
Ddx39a T C 8: 84,449,127 (GRCm39) L305P probably damaging Het
Depdc5 A G 5: 33,026,197 (GRCm39) E60G probably benign Het
Eif2ak2 T A 17: 79,171,384 (GRCm39) M340L probably benign Het
Etl4 A T 2: 20,748,385 (GRCm39) H39L probably damaging Het
Fat3 T C 9: 15,826,306 (GRCm39) T4549A probably damaging Het
Fbxw28 A T 9: 109,167,608 (GRCm39) W50R probably damaging Het
Ggt7 T C 2: 155,344,701 (GRCm39) D214G probably benign Het
Gramd1b G A 9: 40,228,822 (GRCm39) T252M probably damaging Het
Grin1 T C 2: 25,187,471 (GRCm39) N613S probably null Het
Hcrtr2 A T 9: 76,166,963 (GRCm39) S125T probably benign Het
Hr T C 14: 70,805,525 (GRCm39) L1091P probably damaging Het
Htr2a T G 14: 74,943,687 (GRCm39) S422R probably benign Het
Ighmbp2 A G 19: 3,312,097 (GRCm39) S886P probably damaging Het
Iqcg C A 16: 32,866,012 (GRCm39) L110F probably benign Het
Kirrel3 T A 9: 34,823,066 (GRCm39) probably null Het
Kremen1 A C 11: 5,157,703 (GRCm39) probably benign Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Lin52 C G 12: 84,576,499 (GRCm39) L111V probably damaging Het
Myh15 T C 16: 48,891,504 (GRCm39) probably benign Het
Ncor1 A G 11: 62,283,377 (GRCm39) F437L probably damaging Het
Nlrp1b A G 11: 71,062,997 (GRCm39) S685P possibly damaging Het
Oog4 T C 4: 143,165,514 (GRCm39) D211G probably benign Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
Pdzd8 A G 19: 59,288,028 (GRCm39) I1124T possibly damaging Het
Pgm3 A T 9: 86,446,726 (GRCm39) probably benign Het
Pnpla5 A G 15: 84,006,714 (GRCm39) Y90H probably damaging Het
Polr1b C T 2: 128,957,588 (GRCm39) R548* probably null Het
Ptprg T A 14: 12,213,710 (GRCm38) M1026K probably damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rapgef2 T C 3: 78,976,703 (GRCm39) I1368V probably benign Het
Rnf168 T C 16: 32,117,813 (GRCm39) V458A probably benign Het
Rnf32 T C 5: 29,410,652 (GRCm39) probably benign Het
Sclt1 T C 3: 41,583,943 (GRCm39) probably benign Het
Serpina12 A G 12: 104,004,216 (GRCm39) F139L probably damaging Het
Sos2 T G 12: 69,643,467 (GRCm39) Q971P probably damaging Het
Stag3 T A 5: 138,299,298 (GRCm39) probably null Het
Stard5 T C 7: 83,285,951 (GRCm39) probably benign Het
Stard9 T A 2: 120,526,313 (GRCm39) C857S probably benign Het
Suclg1 A G 6: 73,237,486 (GRCm39) E77G probably benign Het
Trpm7 A G 2: 126,637,388 (GRCm39) S204P probably damaging Het
Ush2a G T 1: 188,358,809 (GRCm39) G2112C probably benign Het
Vmn2r15 T A 5: 109,441,010 (GRCm39) T283S possibly damaging Het
Wdr6 A T 9: 108,450,168 (GRCm39) V1120D probably damaging Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A 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
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
Predicted Primers PCR Primer
(F):5'- TCTTGGGCAGCAGAGTGTATAGGAA -3'
(R):5'- TCAACAGGAGAAAGCATGGGGACTATT -3'

Sequencing Primer
(F):5'- CAGAGTGTATAGGAACAAACTAAGC -3'
(R):5'- ACCCTTGAAAACTTTGTTCTAGTC -3'
Posted On 2013-05-09