Incidental Mutation 'R8178:Ankrd52'
ID634500
Institutional Source Beutler Lab
Gene Symbol Ankrd52
Ensembl Gene ENSMUSG00000014498
Gene Nameankyrin repeat domain 52
SynonymsG431002C21Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #R8178 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location128377115-128408704 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 128389301 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 877 (L877Q)
Ref Sequence ENSEMBL: ENSMUSP00000014642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014642]
Predicted Effect probably damaging
Transcript: ENSMUST00000014642
AA Change: L877Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: L877Q

DomainStartEndE-ValueType
ANK 7 36 4.44e2 SMART
ANK 40 69 6.55e-5 SMART
ANK 73 102 1.03e-2 SMART
ANK 106 135 1.5e1 SMART
ANK 139 168 5.49e-7 SMART
ANK 172 201 3.01e-4 SMART
ANK 205 234 1.2e-3 SMART
ANK 238 267 2.62e-4 SMART
ANK 271 301 9.78e-4 SMART
ANK 305 334 3.85e-2 SMART
ANK 338 367 5.62e-4 SMART
ANK 371 402 1.55e2 SMART
ANK 422 451 2.16e-5 SMART
ANK 455 484 3.28e-5 SMART
ANK 488 545 2.79e1 SMART
ANK 549 578 5.45e-2 SMART
ANK 584 613 1.84e1 SMART
ANK 617 646 3.85e-2 SMART
ANK 651 682 2.1e-3 SMART
ANK 687 716 6.76e-7 SMART
ANK 720 749 1.07e0 SMART
ANK 753 784 2.92e-2 SMART
ANK 790 819 1.12e-3 SMART
ANK 822 853 9.75e1 SMART
ANK 857 886 1.99e-4 SMART
ANK 890 920 5.09e-2 SMART
ANK 924 953 2.54e-2 SMART
ANK 960 989 1.34e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000166577
AA Change: L4Q
SMART Domains Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498
AA Change: L4Q

DomainStartEndE-ValueType
ANK 18 48 5.09e-2 SMART
ANK 52 81 2.54e-2 SMART
ANK 88 117 1.34e-1 SMART
Blast:ANK 121 148 3e-9 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A G 17: 79,628,270 I276V Het
Acsm5 C A 7: 119,542,395 H538N probably damaging Het
Adamts17 A G 7: 66,849,716 I4V possibly damaging Het
Adgrg3 T C 8: 95,035,047 V146A probably damaging Het
Aox3 A T 1: 58,150,322 D394V possibly damaging Het
Arhgef4 A G 1: 34,722,902 E413G unknown Het
Arhgef5 T C 6: 43,275,185 S957P probably benign Het
Arsk G T 13: 76,091,742 T114K probably damaging Het
Bpifb2 T C 2: 153,891,956 V406A probably damaging Het
Carkd A C 8: 11,511,987 K275Q probably benign Het
Cbr3 C A 16: 93,683,505 Q61K probably benign Het
Ccdc73 C T 2: 104,991,212 S502L probably benign Het
Cdhr3 A T 12: 33,048,932 probably null Het
Cep170b T A 12: 112,739,285 M1159K possibly damaging Het
Cep295 A T 9: 15,333,540 S1159T Het
Cit C T 5: 115,969,072 R1088W probably damaging Het
Col16a1 A T 4: 130,053,477 H205L unknown Het
Cpt1c T G 7: 44,959,653 H748P probably damaging Het
Dcaf8 A T 1: 172,186,319 D359V probably benign Het
Dcstamp A G 15: 39,755,026 Y277C probably damaging Het
Dnah10 A G 5: 124,755,726 K898R probably benign Het
Dnah6 T A 6: 73,060,225 T3345S probably benign Het
Dpp6 A T 5: 27,598,817 N254Y probably damaging Het
F2 A T 2: 91,630,273 probably null Het
Fam216b G C 14: 78,085,064 H67D possibly damaging Het
Fbxl17 A C 17: 63,487,972 probably null Het
Gas2 T A 7: 51,897,278 M59K probably damaging Het
Glud1 G A 14: 34,343,707 G554D probably damaging Het
Gm15448 T C 7: 3,821,261 K631R unknown Het
Gm5483 T G 16: 36,186,402 Y35* probably null Het
Gys2 C T 6: 142,456,412 G234R probably damaging Het
Hmha1 G A 10: 80,027,872 A819T probably damaging Het
Ifngr1 A G 10: 19,609,493 I413M probably benign Het
Inpp5a C T 7: 139,538,237 R236C probably damaging Het
Kcnip3 A G 2: 127,482,014 S32P probably benign Het
Lingo3 T A 10: 80,834,630 T489S possibly damaging Het
Lrpprc A G 17: 84,772,147 L227P probably damaging Het
Morn1 A G 4: 155,128,703 Q356R probably benign Het
Nbeal1 G C 1: 60,237,151 V684L probably benign Het
Nck1 A T 9: 100,497,737 W154R probably damaging Het
Olfr1109 C T 2: 87,092,876 V174M possibly damaging Het
Olfr51 T A 11: 51,007,610 C213S probably damaging Het
Olfr869 T C 9: 20,137,275 V53A possibly damaging Het
Olfr975 G A 9: 39,950,412 R120C probably benign Het
Pdxk C T 10: 78,453,504 V38M probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 probably benign Het
Pes1 T C 11: 3,977,718 S482P probably benign Het
Pglyrp1 T A 7: 18,884,732 F3I unknown Het
Plce1 T A 19: 38,772,979 F2092I possibly damaging Het
Pms1 A G 1: 53,207,346 S345P probably benign Het
Pom121l12 C A 11: 14,600,011 P239H probably damaging Het
Prdm2 A G 4: 143,132,448 I1424T probably benign Het
Prmt6 A G 3: 110,250,824 Y50H probably damaging Het
Rbm39 T C 2: 156,154,275 I397V probably benign Het
Rnf157 A G 11: 116,347,481 V519A possibly damaging Het
Sec23a T C 12: 59,007,194 E6G possibly damaging Het
Shank1 T C 7: 44,313,324 probably null Het
Slfn3 A G 11: 83,214,679 I378V probably benign Het
Smn1 T A 13: 100,130,795 probably null Het
Snd1 T C 6: 28,874,976 F632S possibly damaging Het
Sun5 T C 2: 153,856,211 probably null Het
Tial1 T C 7: 128,444,890 R209G probably benign Het
Trhde T C 10: 114,408,693 I963V possibly damaging Het
Tssc4 G T 7: 143,070,195 R80L possibly damaging Het
Ttn A T 2: 76,812,508 N13261K probably damaging Het
Ugdh A T 5: 65,423,662 probably null Het
Vmn1r218 A T 13: 23,137,302 E273V probably benign Het
Vmn2r92 T A 17: 18,166,726 F109Y possibly damaging Het
Zcchc7 A G 4: 44,931,398 S196G probably benign Het
Zfp788 T A 7: 41,648,911 C324S probably damaging Het
Zfp976 T C 7: 42,613,535 T294A probably benign Het
Other mutations in Ankrd52
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0014:Ankrd52 UTSW 10 128386452 missense probably benign 0.37
R0014:Ankrd52 UTSW 10 128386452 missense probably benign 0.37
R0139:Ankrd52 UTSW 10 128386138 missense probably benign 0.35
R0226:Ankrd52 UTSW 10 128389858 splice site probably null
R1355:Ankrd52 UTSW 10 128388696 missense possibly damaging 0.48
R1370:Ankrd52 UTSW 10 128388696 missense possibly damaging 0.48
R2190:Ankrd52 UTSW 10 128383618 missense probably benign 0.01
R2566:Ankrd52 UTSW 10 128389351 missense probably benign 0.39
R3884:Ankrd52 UTSW 10 128388955 missense probably damaging 0.96
R4624:Ankrd52 UTSW 10 128389259 missense probably damaging 1.00
R4706:Ankrd52 UTSW 10 128378161 missense probably benign
R4750:Ankrd52 UTSW 10 128378089 missense probably damaging 1.00
R4790:Ankrd52 UTSW 10 128380945 missense possibly damaging 0.62
R4965:Ankrd52 UTSW 10 128390507 missense probably benign 0.08
R5060:Ankrd52 UTSW 10 128389841 missense possibly damaging 0.87
R5446:Ankrd52 UTSW 10 128388561 missense probably damaging 1.00
R5798:Ankrd52 UTSW 10 128387610 missense probably benign 0.01
R5977:Ankrd52 UTSW 10 128382697 missense probably damaging 1.00
R5998:Ankrd52 UTSW 10 128383123 missense probably damaging 1.00
R6107:Ankrd52 UTSW 10 128387012 missense probably benign 0.19
R6478:Ankrd52 UTSW 10 128379331 splice site probably null
R6579:Ankrd52 UTSW 10 128387142 missense probably damaging 1.00
R6937:Ankrd52 UTSW 10 128387020 missense probably benign 0.42
R7078:Ankrd52 UTSW 10 128383657 missense probably benign 0.01
R7101:Ankrd52 UTSW 10 128382380 missense probably damaging 1.00
R7252:Ankrd52 UTSW 10 128381996 missense probably damaging 1.00
R7324:Ankrd52 UTSW 10 128386163 missense possibly damaging 0.74
R7505:Ankrd52 UTSW 10 128390055 missense probably damaging 0.99
R7979:Ankrd52 UTSW 10 128381988 missense probably damaging 1.00
X0028:Ankrd52 UTSW 10 128381851 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTGCCAAGATTGTGAACAGC -3'
(R):5'- TTGTTCTCATCCAGCACAGTCAG -3'

Sequencing Primer
(F):5'- TTGTGAACAGCCGAGACGC -3'
(R):5'- TCATCCAGCACAGTCAGGTCTG -3'
Posted On2020-07-13