Incidental Mutation 'R6875:Ankrd53'
ID 536369
Institutional Source Beutler Lab
Gene Symbol Ankrd53
Ensembl Gene ENSMUSG00000014747
Gene Name ankyrin repeat domain 53
Synonyms 4930564N15Rik
MMRRC Submission 044971-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6875 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83739626-83745308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83745155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 455 (V455A)
Ref Sequence ENSEMBL: ENSMUSP00000014891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014891] [ENSMUST00000014892] [ENSMUST00000206496]
AlphaFold Q3V0J4
Predicted Effect probably damaging
Transcript: ENSMUST00000014891
AA Change: V455A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014891
Gene: ENSMUSG00000014747
AA Change: V455A

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 probably benign
Transcript: ENSMUST00000014892
SMART Domains Protein: ENSMUSP00000014892
Gene: ENSMUSG00000014748

DomainStartEndE-ValueType
Pfam:Erv26 1 186 6.2e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206496
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T C 15: 12,812,154 (GRCm39) H270R probably damaging Het
Abcb1a T C 5: 8,751,628 (GRCm39) I336T probably benign Het
Adam19 T A 11: 46,003,702 (GRCm39) F177I probably benign Het
Arrdc1 A G 2: 24,815,677 (GRCm39) S415P probably benign Het
Atp10a T C 7: 58,447,100 (GRCm39) L614P probably benign Het
Catsper1 G T 19: 5,393,991 (GRCm39) V668F probably damaging Het
Cluh T A 11: 74,552,744 (GRCm39) D596E probably damaging Het
Cnot10 A G 9: 114,444,175 (GRCm39) S407P probably benign Het
Commd6 T C 14: 101,871,786 (GRCm39) T86A probably damaging Het
D5Ertd579e A T 5: 36,762,001 (GRCm39) probably null Het
Eif3l A G 15: 78,969,760 (GRCm39) D252G probably damaging Het
Epha2 A T 4: 141,055,779 (GRCm39) S962C probably damaging Het
Fcho1 C A 8: 72,167,069 (GRCm39) probably null Het
Fgf23 G T 6: 127,050,179 (GRCm39) G63C probably damaging Het
Flnc A T 6: 29,445,748 (GRCm39) Y834F probably damaging Het
Gcn1 T C 5: 115,726,169 (GRCm39) L608P probably damaging Het
Hdac5 T A 11: 102,093,102 (GRCm39) E545V probably damaging Het
Hecw2 A T 1: 53,976,291 (GRCm39) M166K probably benign Het
Ikbkb T C 8: 23,155,909 (GRCm39) D586G probably damaging Het
Il36g G C 2: 24,078,633 (GRCm39) probably null Het
Ipo13 A T 4: 117,762,108 (GRCm39) I422N possibly damaging Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Kat6a G A 8: 23,422,377 (GRCm39) A896T probably benign Het
Kif28 A G 1: 179,563,559 (GRCm39) I139T probably damaging Het
Klhl25 A G 7: 75,516,090 (GRCm39) E332G probably damaging Het
Krt8 C T 15: 101,906,343 (GRCm39) A389T probably benign Het
Msrb3 T C 10: 120,620,011 (GRCm39) S175G probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo10 T C 15: 25,805,745 (GRCm39) Y1709H probably benign Het
Nckap5 A G 1: 125,950,931 (GRCm39) S1519P probably benign Het
Npnt T A 3: 132,615,671 (GRCm39) D124V probably damaging Het
Nr1d1 A T 11: 98,661,662 (GRCm39) probably null Het
Ogdh A G 11: 6,290,477 (GRCm39) Y365C probably benign Het
Or4f56 A T 2: 111,703,306 (GRCm39) I298N possibly damaging Het
Phf21b A T 15: 84,671,647 (GRCm39) C416S probably damaging Het
Prpsap1 A G 11: 116,362,264 (GRCm39) S373P probably damaging Het
Qrfprl A T 6: 65,433,320 (GRCm39) N380I probably benign Het
Rab28 T C 5: 41,860,877 (GRCm39) T26A probably damaging Het
Rbbp8nl A G 2: 179,921,019 (GRCm39) I455T probably benign Het
Rnft2 G A 5: 118,366,883 (GRCm39) A285V possibly damaging Het
Rrp36 G T 17: 46,983,297 (GRCm39) Q106K probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn5a A G 9: 119,315,710 (GRCm39) L1666P probably damaging Het
Siglecf A C 7: 43,004,624 (GRCm39) T318P probably benign Het
Slc22a1 C T 17: 12,886,192 (GRCm39) W147* probably null Het
Smchd1 T C 17: 71,660,501 (GRCm39) I1868V probably damaging Het
Snx21 A G 2: 164,633,822 (GRCm39) S203G probably damaging Het
Srl T C 16: 4,300,695 (GRCm39) K792R probably benign Het
Srrt A G 5: 137,296,935 (GRCm39) F100S probably benign Het
Stard9 G T 2: 120,527,917 (GRCm39) M1391I probably benign Het
Syne2 A G 12: 76,082,404 (GRCm39) E119G probably damaging Het
Syt11 G T 3: 88,669,462 (GRCm39) S143R possibly damaging Het
Tiparp T A 3: 65,439,063 (GRCm39) H126Q probably benign Het
Tulp2 C A 7: 45,168,038 (GRCm39) T150K probably benign Het
Ugt2b37 T A 5: 87,390,288 (GRCm39) Y386F probably benign Het
Usp31 C T 7: 121,248,863 (GRCm39) W860* probably null Het
Zfp317 A G 9: 19,554,961 (GRCm39) R30G probably damaging Het
Zfp709 C A 8: 72,642,851 (GRCm39) N93K possibly 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
R6144:Ankrd53 UTSW 6 83,739,639 (GRCm39) unclassified probably benign
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 PCR Primer
(F):5'- AGAATATTCGCCTGGGTGTG -3'
(R):5'- TCACCAGAGGCTTCAAGAAC -3'

Sequencing Primer
(F):5'- ATGACTTCCGCAGATTCCTGGAG -3'
(R):5'- CCAGAGGCTTCAAGAACAACTTTATG -3'
Posted On 2018-10-18