Incidental Mutation 'R4790:Ankrd52'
ID 368483
Institutional Source Beutler Lab
Gene Symbol Ankrd52
Ensembl Gene ENSMUSG00000014498
Gene Name ankyrin repeat domain 52
Synonyms G431002C21Rik
MMRRC Submission 042418-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R4790 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128212993-128229875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128216814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 190 (K190E)
Ref Sequence ENSEMBL: ENSMUSP00000014642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014642]
AlphaFold Q8BTI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000014642
AA Change: K190E

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: K190E

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 noncoding transcript
Transcript: ENSMUST00000157768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184999
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T G 11: 110,202,236 (GRCm39) T390P possibly damaging Het
Acss3 A T 10: 106,859,563 (GRCm39) Y345* probably null Het
Adam26b A T 8: 43,973,764 (GRCm39) S413T probably benign Het
Angpt2 T A 8: 18,764,098 (GRCm39) Q148L probably damaging Het
Ank3 T A 10: 69,823,981 (GRCm39) Y883* probably null Het
Anks1b A G 10: 89,999,137 (GRCm39) R415G probably damaging Het
Ano3 T A 2: 110,715,264 (GRCm39) Q58L probably benign Het
Aoc1l2 T A 6: 48,907,486 (GRCm39) I162N probably damaging Het
Arhgap39 A T 15: 76,610,931 (GRCm39) M924K possibly damaging Het
AU040320 A G 4: 126,741,008 (GRCm39) M910V possibly damaging Het
BC051019 T A 7: 109,315,553 (GRCm39) H86L probably benign Het
C1qbp G A 11: 70,870,856 (GRCm39) Q151* probably null Het
C4b G T 17: 34,953,117 (GRCm39) D1069E probably benign Het
Casp1 C T 9: 5,303,020 (GRCm39) T158I probably benign Het
Casq1 T C 1: 172,044,404 (GRCm39) D141G probably damaging Het
Ccdc33 T A 9: 57,937,240 (GRCm39) E653V probably damaging Het
Cd180 C T 13: 102,839,330 (GRCm39) T71M probably damaging Het
Cdk4 T C 10: 126,900,570 (GRCm39) L112P probably damaging Het
Celf2 A G 2: 6,554,714 (GRCm39) F425S probably damaging Het
Chrm3 A T 13: 9,927,698 (GRCm39) V446E probably benign Het
Chst9 A T 18: 15,586,107 (GRCm39) L152H probably damaging Het
Cib2 A G 9: 54,457,087 (GRCm39) probably null Het
Clec18a T C 8: 111,798,717 (GRCm39) S366G probably damaging Het
Crebbp A G 16: 3,997,983 (GRCm39) F34L probably damaging Het
Dapk1 AT A 13: 60,870,919 (GRCm39) probably null Het
Ddi1 T A 9: 6,265,761 (GRCm39) M203L probably benign Het
Ddx20 G T 3: 105,590,485 (GRCm39) S270R probably benign Het
Eddm13 A T 7: 6,269,317 (GRCm39) K31* probably null Het
Espnl A T 1: 91,272,146 (GRCm39) E458V probably damaging Het
Fat3 T C 9: 15,909,780 (GRCm39) D2074G probably damaging Het
Fcf1 A G 12: 85,020,902 (GRCm39) T61A probably benign Het
Fkbp15 T C 4: 62,226,234 (GRCm39) R772G probably benign Het
Flnb T C 14: 7,905,661 (GRCm38) V1137A probably benign Het
Fosb C A 7: 19,043,313 (GRCm39) C15F probably damaging Het
Frem2 A T 3: 53,424,162 (GRCm39) W3092R probably benign Het
Gm3248 T C 14: 5,945,831 (GRCm38) I28V probably damaging Het
Gm4922 G T 10: 18,659,916 (GRCm39) L269I possibly damaging Het
Gucy2e G A 11: 69,119,274 (GRCm39) R627W probably damaging Het
Hephl1 T A 9: 14,970,467 (GRCm39) E1009V probably damaging Het
Hsf4 A T 8: 105,997,237 (GRCm39) Q61L probably damaging Het
Itgam T A 7: 127,715,445 (GRCm39) N1046K probably benign Het
Itgav G A 2: 83,586,154 (GRCm39) C138Y probably damaging Het
Itih4 A T 14: 30,611,867 (GRCm39) Y157F probably damaging Het
Kcnt2 C T 1: 140,282,254 (GRCm39) R80C probably damaging Het
Kdm4b G A 17: 56,708,618 (GRCm39) V986M probably damaging Het
Lamb3 T A 1: 193,022,194 (GRCm39) V1014D probably damaging Het
Lrrc74b G T 16: 17,367,717 (GRCm39) N282K probably damaging Het
Map3k20 T A 2: 72,272,048 (GRCm39) H725Q probably benign Het
Mink1 A G 11: 70,489,867 (GRCm39) N81S probably damaging Het
Mmp21 A G 7: 133,276,759 (GRCm39) Y415H probably damaging Het
Mycbp2 A T 14: 103,466,873 (GRCm39) W1297R probably damaging Het
Myh8 T C 11: 67,170,789 (GRCm39) M95T probably damaging Het
Myo7b A T 18: 32,133,158 (GRCm39) probably null Het
Nanog A G 6: 122,684,874 (GRCm39) M20V probably benign Het
Ncapd3 A G 9: 26,963,146 (GRCm39) I484V probably benign Het
Ndufa12 A T 10: 94,056,620 (GRCm39) N116I probably benign Het
Nedd4l A G 18: 65,337,016 (GRCm39) I668V possibly damaging Het
Nhsl3 C A 4: 129,117,095 (GRCm39) R523L probably damaging Het
Nobox T C 6: 43,282,480 (GRCm39) D309G probably benign Het
Npnt A G 3: 132,596,523 (GRCm39) probably benign Het
Nrxn1 A C 17: 90,762,477 (GRCm39) Y2D possibly damaging Het
Obox6 G T 7: 15,568,502 (GRCm39) P125T possibly damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or14j8 T C 17: 38,263,633 (GRCm39) Y94C probably damaging Het
Or2ag15 C G 7: 106,340,998 (GRCm39) V48L probably benign Het
Or4s2b T A 2: 88,508,731 (GRCm39) N177K possibly damaging Het
Or56a3 T C 7: 104,735,844 (GRCm39) probably benign Het
Or5ac20 A T 16: 59,104,821 (GRCm39) V13D probably damaging Het
Or5an10 A G 19: 12,276,305 (GRCm39) Y64H possibly damaging Het
Or8k32 T C 2: 86,369,224 (GRCm39) T10A possibly damaging Het
Osm A T 11: 4,188,435 (GRCm39) M21L probably benign Het
Otogl T A 10: 107,657,894 (GRCm39) probably null Het
Otud4 T G 8: 80,393,402 (GRCm39) S493A possibly damaging Het
Pars2 A G 4: 106,508,308 (GRCm39) probably benign Het
Phlda3 T A 1: 135,694,557 (GRCm39) V124E possibly damaging Het
Pias4 T C 10: 80,993,326 (GRCm39) D199G probably damaging Het
Pm20d1 T C 1: 131,739,777 (GRCm39) L375P probably benign Het
Pole2 T C 12: 69,273,139 (GRCm39) I48V probably benign Het
Prrc2c T C 1: 162,538,050 (GRCm39) R527G unknown Het
Rasgrf2 G T 13: 92,136,135 (GRCm39) N592K probably damaging Het
Rbm7 A G 9: 48,406,474 (GRCm39) L26P probably damaging Het
Rhag A G 17: 41,142,181 (GRCm39) H208R probably benign Het
Rnf17 A G 14: 56,671,812 (GRCm39) E268G probably damaging Het
Rnf220 A G 4: 117,146,252 (GRCm39) V23A probably benign Het
Rnf7 A T 9: 96,360,472 (GRCm39) V55D probably damaging Het
Sdr9c7 C A 10: 127,739,448 (GRCm39) R188S possibly damaging Het
Senp6 T A 9: 79,997,140 (GRCm39) N51K probably benign Het
Skint3 C A 4: 112,113,095 (GRCm39) T235K possibly damaging Het
Slc10a5 A G 3: 10,400,096 (GRCm39) F188S probably damaging Het
Slc41a1 G A 1: 131,758,690 (GRCm39) G111R probably damaging Het
Smarca1 T C X: 46,972,944 (GRCm39) D132G probably null Het
Snrnp48 C T 13: 38,405,299 (GRCm39) R299W probably damaging Het
Sspo G A 6: 48,437,705 (GRCm39) G1413D probably benign Het
Star T A 8: 26,298,644 (GRCm39) H16Q probably damaging Het
Strc T C 2: 121,206,075 (GRCm39) D779G probably benign Het
Sulf2 T C 2: 165,931,215 (GRCm39) Y264C probably damaging Het
Supt7l A G 5: 31,680,248 (GRCm39) S6P possibly damaging Het
Syne2 A G 12: 76,067,165 (GRCm39) D4289G probably benign Het
Szrd1 A T 4: 140,867,001 (GRCm39) probably null Het
Tada1 T C 1: 166,219,523 (GRCm39) V275A possibly damaging Het
Tbr1 A T 2: 61,641,932 (GRCm39) Y136F probably benign Het
Tbx20 T A 9: 24,637,010 (GRCm39) H359L probably benign Het
Thbs4 G T 13: 92,899,314 (GRCm39) D560E probably damaging Het
Tnfsf14 T C 17: 57,497,740 (GRCm39) H164R probably damaging Het
Trmu T C 15: 85,767,006 (GRCm39) S72P probably damaging Het
Tsnaxip1 C A 8: 106,560,155 (GRCm39) Q36K probably benign Het
Ttc28 T A 5: 111,372,083 (GRCm39) M844K possibly damaging Het
Tubgcp2 T C 7: 139,579,201 (GRCm39) Y695C probably damaging Het
Ugt1a10 T A 1: 87,984,009 (GRCm39) M269K probably damaging Het
Urb1 A T 16: 90,566,443 (GRCm39) L1448* probably null Het
Vmn2r124 A T 17: 18,269,855 (GRCm39) H37L probably damaging Het
Vmn2r44 T C 7: 8,370,949 (GRCm39) N699S probably damaging Het
Vps35 A T 8: 86,005,486 (GRCm39) probably null Het
Yipf1 G T 4: 107,193,396 (GRCm39) probably null Het
Zfp395 A G 14: 65,623,990 (GRCm39) N153S possibly damaging Het
Zfp395 A G 14: 65,630,656 (GRCm39) D402G probably damaging Het
Zfp652 T C 11: 95,640,435 (GRCm39) V120A probably damaging Het
Zp3r T C 1: 130,510,629 (GRCm39) I364M probably damaging Het
Other mutations in Ankrd52
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0014:Ankrd52 UTSW 10 128,222,321 (GRCm39) missense probably benign 0.37
R0014:Ankrd52 UTSW 10 128,222,321 (GRCm39) missense probably benign 0.37
R0139:Ankrd52 UTSW 10 128,222,007 (GRCm39) missense probably benign 0.35
R0226:Ankrd52 UTSW 10 128,225,727 (GRCm39) splice site probably null
R1355:Ankrd52 UTSW 10 128,224,565 (GRCm39) missense possibly damaging 0.48
R1370:Ankrd52 UTSW 10 128,224,565 (GRCm39) missense possibly damaging 0.48
R2190:Ankrd52 UTSW 10 128,219,487 (GRCm39) missense probably benign 0.01
R2566:Ankrd52 UTSW 10 128,225,220 (GRCm39) missense probably benign 0.39
R3884:Ankrd52 UTSW 10 128,224,824 (GRCm39) missense probably damaging 0.96
R4624:Ankrd52 UTSW 10 128,225,128 (GRCm39) missense probably damaging 1.00
R4706:Ankrd52 UTSW 10 128,214,030 (GRCm39) missense probably benign
R4750:Ankrd52 UTSW 10 128,213,958 (GRCm39) missense probably damaging 1.00
R4965:Ankrd52 UTSW 10 128,226,376 (GRCm39) missense probably benign 0.08
R5060:Ankrd52 UTSW 10 128,225,710 (GRCm39) missense possibly damaging 0.87
R5446:Ankrd52 UTSW 10 128,224,430 (GRCm39) missense probably damaging 1.00
R5798:Ankrd52 UTSW 10 128,223,479 (GRCm39) missense probably benign 0.01
R5977:Ankrd52 UTSW 10 128,218,566 (GRCm39) missense probably damaging 1.00
R5998:Ankrd52 UTSW 10 128,218,992 (GRCm39) missense probably damaging 1.00
R6107:Ankrd52 UTSW 10 128,222,881 (GRCm39) missense probably benign 0.19
R6478:Ankrd52 UTSW 10 128,215,200 (GRCm39) splice site probably null
R6579:Ankrd52 UTSW 10 128,223,011 (GRCm39) missense probably damaging 1.00
R6937:Ankrd52 UTSW 10 128,222,889 (GRCm39) missense probably benign 0.42
R7078:Ankrd52 UTSW 10 128,219,526 (GRCm39) missense probably benign 0.01
R7101:Ankrd52 UTSW 10 128,218,249 (GRCm39) missense probably damaging 1.00
R7252:Ankrd52 UTSW 10 128,217,865 (GRCm39) missense probably damaging 1.00
R7324:Ankrd52 UTSW 10 128,222,032 (GRCm39) missense possibly damaging 0.74
R7505:Ankrd52 UTSW 10 128,225,924 (GRCm39) missense probably damaging 0.99
R7979:Ankrd52 UTSW 10 128,217,857 (GRCm39) missense probably damaging 1.00
R8178:Ankrd52 UTSW 10 128,225,170 (GRCm39) missense probably damaging 1.00
R8520:Ankrd52 UTSW 10 128,225,359 (GRCm39) missense probably damaging 1.00
R8985:Ankrd52 UTSW 10 128,222,978 (GRCm39) missense probably damaging 1.00
R9068:Ankrd52 UTSW 10 128,217,850 (GRCm39) missense probably damaging 1.00
R9717:Ankrd52 UTSW 10 128,216,457 (GRCm39) missense probably benign 0.18
X0028:Ankrd52 UTSW 10 128,217,720 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCAAGTTTCACCCTTTGG -3'
(R):5'- ATACTGCTCTGACCTCCAACTG -3'

Sequencing Primer
(F):5'- AGGAGCCTAGAGCCTTTGG -3'
(R):5'- AACTGCCTGTCCTGAGCC -3'
Posted On 2016-02-04