Incidental Mutation 'R4750:Ankrd52'
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ID401877
Institutional Source Beutler Lab
Gene Symbol Ankrd52
Ensembl Gene ENSMUSG00000014498
Gene Nameankyrin repeat domain 52
SynonymsG431002C21Rik
MMRRC Submission 042031-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #R4750 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location128377115-128408704 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 128378089 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 38 (D38A)
Ref Sequence ENSEMBL: ENSMUSP00000014642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014642]
Predicted Effect probably damaging
Transcript: ENSMUST00000014642
AA Change: D38A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: D38A

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
Meta Mutation Damage Score 0.5087 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 97% (89/92)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008P14Rik C T 2: 32,379,413 probably null Het
1700074P13Rik A G 6: 40,921,021 W243R probably damaging Het
2510039O18Rik T A 4: 147,941,488 L155Q probably damaging Het
Aadac T C 3: 60,035,817 F48L probably benign Het
Aadat T A 8: 60,526,600 N165K probably benign Het
Acan C A 7: 79,092,718 D557E probably damaging Het
Adamts4 T A 1: 171,251,066 V85D probably benign Het
Agt A G 8: 124,556,937 V481A probably benign Het
Angpt1 T C 15: 42,676,401 N21D probably benign Het
Ap1g2 G T 14: 55,104,365 Q247K probably damaging Het
Apaf1 T C 10: 91,060,188 R341G probably damaging Het
Arf2 T C 11: 103,979,759 probably null Het
Arhgef1 A G 7: 24,918,576 probably benign Het
Bbox1 T A 2: 110,265,521 Y366F possibly damaging Het
Bmp3 A G 5: 98,872,558 E280G possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 probably benign Het
Cdh12 T A 15: 21,583,808 V578D possibly damaging Het
Cdk19 T C 10: 40,476,199 S282P probably damaging Het
Cfap46 A G 7: 139,679,323 probably null Het
Cfhr3 T A 1: 139,584,828 noncoding transcript Het
Ctrc T A 4: 141,841,523 Y123F probably benign Het
Enpp4 A G 17: 44,102,355 M96T probably damaging Het
Exosc10 T A 4: 148,562,394 S154T possibly damaging Het
Fbxo21 G A 5: 118,000,468 R486H probably benign Het
Foxj3 C A 4: 119,616,590 A204E probably damaging Het
Gas6 T G 8: 13,476,227 D237A probably benign Het
Gimap8 A G 6: 48,650,427 S112G probably benign Het
Gm4787 T C 12: 81,378,367 N339S possibly damaging Het
Gm6185 T C 1: 161,182,363 noncoding transcript Het
Gramd3 A G 18: 56,432,300 E9G probably benign Het
Hmgxb3 A T 18: 61,167,496 D169E probably benign Het
Isl2 T A 9: 55,544,312 V162D probably benign Het
Kcns3 T A 12: 11,091,654 D348V probably damaging Het
Kcp G A 6: 29,484,626 P1318S probably benign Het
Kif12 T A 4: 63,167,783 Q415L probably damaging Het
Lama3 T A 18: 12,504,359 H45Q probably benign Het
Lonp2 A T 8: 86,631,502 K117M probably benign Het
Loxl4 T A 19: 42,605,004 N243Y probably damaging Het
Lrif1 C A 3: 106,735,564 Q662K probably benign Het
Lrrc37a T A 11: 103,455,480 I3187L probably benign Het
Lsg1 A G 16: 30,565,449 I521T probably damaging Het
Mecom T G 3: 29,957,530 K865Q probably damaging Het
Myh10 T C 11: 68,785,314 I790T probably damaging Het
Nek7 C T 1: 138,498,673 S234N probably damaging Het
Nepro T C 16: 44,730,182 L179P probably damaging Het
Nexn A G 3: 152,237,722 C649R probably damaging Het
Nsmf T C 2: 25,055,026 S34P probably damaging Het
Olfr1140 C T 2: 87,746,508 T104I probably benign Het
Olfr1339 T A 4: 118,734,733 V68D possibly damaging Het
Olfr1350 A G 7: 6,570,851 I287V probably benign Het
Olfr1364 A G 13: 21,573,743 S238P possibly damaging Het
Olfr354 T A 2: 36,907,716 S257T probably benign Het
Olfr406 T A 11: 74,269,420 F10L probably benign Het
Olfr417 A G 1: 174,368,922 I2V probably benign Het
Olfr685 A T 7: 105,180,926 I144N probably damaging Het
Olfr702 A G 7: 106,824,307 F73S probably damaging Het
P2rx5 G T 11: 73,164,877 K53N probably damaging Het
Pcdhb20 C A 18: 37,506,131 A570E possibly damaging Het
Pip4k2c T C 10: 127,211,417 H32R unknown Het
Pkhd1 T A 1: 20,524,112 D1259V possibly damaging Het
Plekha7 A T 7: 116,137,311 V889E probably damaging Het
Polr2b A C 5: 77,332,039 E546D possibly damaging Het
Ppm1l A G 3: 69,549,328 T193A probably damaging Het
Ppp1r37 G T 7: 19,531,520 D710E probably benign Het
Prdm4 A G 10: 85,899,221 F679L probably damaging Het
Prkcd A G 14: 30,610,301 M1T probably null Het
Rcor3 A G 1: 192,130,449 Y77H probably damaging Het
Rdh5 T C 10: 128,918,366 E66G possibly damaging Het
Slc12a5 A G 2: 164,982,931 M396V probably benign Het
Slco5a1 T G 1: 12,879,280 T629P probably damaging Het
Smarca5 A C 8: 80,733,707 N133K probably benign Het
Spag5 T C 11: 78,320,052 M927T probably benign Het
Spint4 A T 2: 164,700,146 D39V probably damaging Het
Syt6 T A 3: 103,630,917 *512R probably null Het
Tmem247 T C 17: 86,922,342 C204R probably damaging Het
Tmem72 A G 6: 116,695,434 Y149H probably damaging Het
Trpm6 T C 19: 18,876,064 V1816A probably damaging Het
Usp35 A G 7: 97,310,339 V1008A possibly damaging Het
Washc4 T C 10: 83,591,052 S1075P probably damaging Het
Wdr34 T C 2: 30,033,920 T198A probably benign Het
Xylb G T 9: 119,359,313 G62* probably null Het
Zfp142 T C 1: 74,572,458 E623G probably damaging Het
Zfp239 A G 6: 117,871,739 Y146C probably damaging 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
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 intron 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
X0028:Ankrd52 UTSW 10 128381851 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GATGCCCAGAAAACCCTGTC -3'
(R):5'- ATTCTTGTACCAAGCACCAGC -3'

Sequencing Primer
(F):5'- CCTTCTCAACCATCGGGG -3'
(R):5'- GCAATCAATCCTCGGATCTAAAAAG -3'
Posted On2016-07-15