Incidental Mutation 'R6144:Ankrd53'
ID 488733
Institutional Source Beutler Lab
Gene Symbol Ankrd53
Ensembl Gene ENSMUSG00000014747
Gene Name ankyrin repeat domain 53
Synonyms 4930564N15Rik
MMRRC Submission 044291-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6144 (G1)
Quality Score 107.008
Status Not validated
Chromosome 6
Chromosomal Location 83739626-83745308 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 83739639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000014891] [ENSMUST00000206496]
AlphaFold Q3V0J4
Predicted Effect probably benign
Transcript: ENSMUST00000006431
SMART Domains Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 44 110 1.9e-14 PFAM
Pfam:ATP-synt_ab 167 393 9.4e-68 PFAM
Pfam:ATP-synt_ab_C 410 508 6.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000014891
SMART Domains Protein: ENSMUSP00000014891
Gene: ENSMUSG00000014747

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
ANK 110 140 1.15e0 SMART
ANK 144 177 1.63e0 SMART
ANK 181 210 1.78e-6 SMART
Blast:ANK 215 243 6e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206052
Predicted Effect probably benign
Transcript: ENSMUST00000206496
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 96% (65/68)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A T 2: 150,186,564 (GRCm39) D40E possibly damaging Het
4921517D22Rik C T 13: 59,837,347 (GRCm39) R246H probably damaging Het
Agbl1 A G 7: 76,069,832 (GRCm39) T203A probably benign Het
Alms1 T A 6: 85,600,056 (GRCm39) D2096E probably damaging Het
Arap3 C A 18: 38,118,486 (GRCm39) G814C probably damaging Het
Armc9 T G 1: 86,172,301 (GRCm39) I5S probably benign Het
Catsperg1 T C 7: 28,910,120 (GRCm39) T74A probably damaging Het
Cdca7l T A 12: 117,837,446 (GRCm39) probably null Het
Cfhr2 T A 1: 139,733,153 (GRCm39) probably benign Het
Chpt1 A G 10: 88,288,955 (GRCm39) probably benign Het
Cntrl A C 2: 35,055,745 (GRCm39) D1213A possibly damaging Het
Col7a1 C T 9: 108,803,148 (GRCm39) R2149C unknown Het
Cpa4 T C 6: 30,585,082 (GRCm39) S289P probably damaging Het
Cpsf3 G A 12: 21,356,887 (GRCm39) probably null Het
Creb3l1 T C 2: 91,822,350 (GRCm39) H212R possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2c29 A G 19: 39,310,053 (GRCm39) D254G possibly damaging Het
Dennd1b A G 1: 139,008,993 (GRCm39) H232R probably damaging Het
Dhx29 T C 13: 113,101,105 (GRCm39) L1216P probably damaging Het
Dsg1b T C 18: 20,529,476 (GRCm39) I307T possibly damaging Het
Ep300 A G 15: 81,485,435 (GRCm39) S141G unknown Het
Evl A C 12: 108,619,290 (GRCm39) K101T probably damaging Het
Exph5 G A 9: 53,284,328 (GRCm39) G470R probably benign Het
Flg A T 3: 93,190,515 (GRCm39) probably benign Het
Gm45704 T A 8: 73,510,920 (GRCm39) Het
Grm1 T C 10: 10,955,640 (GRCm39) M215V probably benign Het
Hadha T C 5: 30,345,994 (GRCm39) D210G probably benign Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Hrc A T 7: 44,986,157 (GRCm39) H436L possibly damaging Het
Hycc1 T C 5: 24,171,367 (GRCm39) S352G possibly damaging Het
Ido1 T A 8: 25,075,306 (GRCm39) T259S possibly damaging Het
Itgb7 C A 15: 102,131,917 (GRCm39) R222L probably benign Het
Khnyn T C 14: 56,125,296 (GRCm39) V485A probably damaging Het
Kifc5b T C 17: 27,140,826 (GRCm39) V100A probably benign Het
Lsm10 T C 4: 125,991,794 (GRCm39) M50T probably damaging Het
Map3k6 T G 4: 132,972,986 (GRCm39) W382G probably damaging Het
Mink1 T A 11: 70,501,478 (GRCm39) F922I possibly damaging Het
Mrap2 T C 9: 87,057,871 (GRCm39) V53A probably damaging Het
Mrps7 C A 11: 115,495,000 (GRCm39) A5E probably benign Het
Muc4 A G 16: 32,587,298 (GRCm39) N2713S possibly damaging Het
Nckipsd T C 9: 108,689,585 (GRCm39) S249P probably damaging Het
Neil3 T C 8: 54,052,447 (GRCm39) T384A probably benign Het
Noc3l A T 19: 38,787,399 (GRCm39) I504K probably damaging Het
Nudt13 A G 14: 20,357,839 (GRCm39) N107S probably benign Het
Or11h4b C A 14: 50,918,392 (GRCm39) R233L probably benign Het
Or2n1 T A 17: 38,486,116 (GRCm39) L47H probably damaging Het
Or5c1 T A 2: 37,222,125 (GRCm39) M122K probably damaging Het
Otub1 G T 19: 7,176,518 (GRCm39) Y205* probably null Het
Pals1 T C 12: 78,871,563 (GRCm39) V381A possibly damaging Het
Pierce2 C A 9: 72,887,270 (GRCm39) C79F probably damaging Het
Plpp7 T A 2: 31,986,100 (GRCm39) S93T probably damaging Het
Pxk T G 14: 8,138,011 (GRCm38) Y188D probably damaging Het
Rigi T C 4: 40,229,551 (GRCm39) I78V probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpap1 A T 2: 119,603,128 (GRCm39) C602* probably null Het
Sbds T C 5: 130,275,185 (GRCm39) K248E probably benign Het
Serpina10 A T 12: 103,595,092 (GRCm39) N42K probably benign Het
Slc7a8 A G 14: 54,966,797 (GRCm39) L368P probably damaging Het
Srrm1 T C 4: 135,065,184 (GRCm39) probably benign Het
Sun2 C T 15: 79,614,533 (GRCm39) V288I probably benign Het
Tas2r107 C A 6: 131,636,966 (GRCm39) A28S possibly damaging Het
Tbc1d9b T C 11: 50,037,155 (GRCm39) I268T probably benign Het
Tjp2 A G 19: 24,097,437 (GRCm39) F495L probably damaging Het
Top2b T C 14: 16,423,740 (GRCm38) L1434P possibly damaging Het
Top3b A G 16: 16,697,005 (GRCm39) probably null Het
Trdv2-2 A T 14: 54,198,761 (GRCm39) E17V possibly damaging Het
Ttc6 T A 12: 57,719,886 (GRCm39) L819Q possibly damaging Het
Txlnb A G 10: 17,718,914 (GRCm39) T582A probably benign Het
Zfp788 T C 7: 41,299,193 (GRCm39) S558P probably damaging Het
Other mutations in Ankrd53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Ankrd53 APN 6 83,740,031 (GRCm39) nonsense probably null
IGL03186:Ankrd53 APN 6 83,740,695 (GRCm39) missense probably benign 0.15
PIT4651001:Ankrd53 UTSW 6 83,742,715 (GRCm39) missense probably damaging 1.00
R0420:Ankrd53 UTSW 6 83,740,674 (GRCm39) missense probably damaging 1.00
R0662:Ankrd53 UTSW 6 83,740,625 (GRCm39) missense probably damaging 1.00
R1978:Ankrd53 UTSW 6 83,740,185 (GRCm39) missense probably damaging 1.00
R2313:Ankrd53 UTSW 6 83,740,662 (GRCm39) missense probably damaging 1.00
R2483:Ankrd53 UTSW 6 83,740,244 (GRCm39) missense possibly damaging 0.52
R3623:Ankrd53 UTSW 6 83,740,244 (GRCm39) missense possibly damaging 0.52
R3624:Ankrd53 UTSW 6 83,740,244 (GRCm39) missense possibly damaging 0.52
R4550:Ankrd53 UTSW 6 83,742,242 (GRCm39) missense probably damaging 1.00
R4836:Ankrd53 UTSW 6 83,745,134 (GRCm39) missense probably damaging 1.00
R6875:Ankrd53 UTSW 6 83,745,155 (GRCm39) missense probably damaging 1.00
R7143:Ankrd53 UTSW 6 83,739,893 (GRCm39) missense possibly damaging 0.93
R7293:Ankrd53 UTSW 6 83,740,178 (GRCm39) missense probably null 1.00
R7955:Ankrd53 UTSW 6 83,744,845 (GRCm39) missense probably benign 0.11
R9641:Ankrd53 UTSW 6 83,740,692 (GRCm39) missense possibly damaging 0.95
Z1177:Ankrd53 UTSW 6 83,742,765 (GRCm39) missense possibly damaging 0.93
Predicted Primers
Posted On 2017-10-10