Incidental Mutation 'R2352:Ankrd28'
ID 246228
Institutional Source Beutler Lab
Gene Symbol Ankrd28
Ensembl Gene ENSMUSG00000014496
Gene Name ankyrin repeat domain 28
Synonyms E430019N21Rik
MMRRC Submission 040334-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R2352 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 31420725-31552608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31432904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 548 (V548I)
Ref Sequence ENSEMBL: ENSMUSP00000154197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863]
AlphaFold Q505D1
Predicted Effect probably benign
Transcript: ENSMUST00000014640
AA Change: V702I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: V702I

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 benign
Transcript: ENSMUST00000227089
AA Change: V548I

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227613
Predicted Effect probably benign
Transcript: ENSMUST00000227863
AA Change: V732I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,385,300 (GRCm39) S315P probably benign Het
Caln1 G T 5: 130,534,993 (GRCm39) E70* probably null Het
Cd69 A T 6: 129,246,567 (GRCm39) W114R probably damaging Het
Cnbd2 T C 2: 156,177,275 (GRCm39) Y90H probably damaging Het
Crebrf C T 17: 26,961,320 (GRCm39) S147F probably damaging Het
Cts7 A T 13: 61,500,586 (GRCm39) C320* probably null Het
Dgat1 T C 15: 76,386,513 (GRCm39) I474V possibly damaging Het
Dmxl2 T A 9: 54,301,146 (GRCm39) I2322F probably damaging Het
Dnah11 A T 12: 117,892,065 (GRCm39) F3703I probably damaging Het
Foxb2 A G 19: 16,850,433 (GRCm39) L191P unknown Het
Gli3 A T 13: 15,836,977 (GRCm39) E453D probably benign Het
Gnl3 C T 14: 30,738,783 (GRCm39) probably null Het
Golgb1 A T 16: 36,718,921 (GRCm39) T276S probably damaging Het
Grk4 T C 5: 34,826,520 (GRCm39) M40T probably benign Het
Hoxb1 A G 11: 96,257,203 (GRCm39) N184S possibly damaging Het
Insr G T 8: 3,242,593 (GRCm39) T42N probably damaging Het
Iqgap3 A G 3: 88,011,815 (GRCm39) K836E possibly damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Leng9 T A 7: 4,152,409 (GRCm39) E89V probably damaging Het
Lhcgr C T 17: 89,049,727 (GRCm39) V600I possibly damaging Het
Lima1 T C 15: 99,692,396 (GRCm39) N183S probably benign Het
Lmtk2 A G 5: 144,110,729 (GRCm39) D483G probably benign Het
Lpcat2b T G 5: 107,581,307 (GRCm39) L212R probably damaging Het
Lrrc61 A T 6: 48,545,806 (GRCm39) I210F probably benign Het
Lypd8l A T 11: 58,503,676 (GRCm39) L10H probably damaging Het
Lypd8l G A 11: 58,502,934 (GRCm39) Q72* probably null Het
Med12l C T 3: 59,148,113 (GRCm39) L977F probably damaging Het
Mical1 A T 10: 41,358,229 (GRCm39) D414V probably benign Het
Mmp14 C T 14: 54,678,002 (GRCm39) A541V probably benign Het
Mtmr10 A G 7: 63,947,328 (GRCm39) D81G possibly damaging Het
Myh1 G A 11: 67,111,363 (GRCm39) V1601M probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Neb T C 2: 52,177,348 (GRCm39) Y1331C probably damaging Het
Otop2 T C 11: 115,219,927 (GRCm39) S256P probably damaging Het
Prl8a1 A G 13: 27,759,572 (GRCm39) L155P probably damaging Het
Rrp1b A T 17: 32,278,302 (GRCm39) M658L possibly damaging Het
Sema4b C A 7: 79,870,627 (GRCm39) A525D probably damaging Het
Slc13a5 T A 11: 72,143,147 (GRCm39) I369F probably benign Het
Slc22a18 T C 7: 143,051,152 (GRCm39) S344P probably benign Het
Slc25a4 A C 8: 46,662,212 (GRCm39) S149A probably benign Het
Smc2 A T 4: 52,460,266 (GRCm39) E547D probably benign Het
Stx8 A G 11: 67,864,077 (GRCm39) T46A probably benign Het
Tacr3 T C 3: 134,560,631 (GRCm39) V190A probably benign Het
Tdrkh A T 3: 94,336,467 (GRCm39) K468M possibly damaging Het
Tmem145 T C 7: 25,005,598 (GRCm39) S4P probably benign Het
Tmem74 A G 15: 43,730,506 (GRCm39) I179T probably damaging Het
Vmn1r222 A C 13: 23,416,683 (GRCm39) W177G probably benign Het
Zfp426 T C 9: 20,381,401 (GRCm39) I529V probably benign Het
Zfp462 A G 4: 55,008,313 (GRCm39) Y93C probably null Het
Zfyve26 G A 12: 79,330,890 (GRCm39) T443I probably damaging Het
Zkscan16 A C 4: 58,951,869 (GRCm39) R181S 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
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
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'- TGTAGCAAGCCCAGTGAAGTG -3'
(R):5'- TTCTCAATGGGCACACGGAC -3'

Sequencing Primer
(F):5'- CCAGTGAAGTGCTGTATACCCATG -3'
(R):5'- CGGACTGTGTATACTCACTACTGAAC -3'
Posted On 2014-10-30