Incidental Mutation 'PIT4651001:Ankrd53'
ID 556660
Institutional Source Beutler Lab
Gene Symbol Ankrd53
Ensembl Gene ENSMUSG00000014747
Gene Name ankyrin repeat domain 53
Synonyms 4930564N15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4651001 (G1)
Quality Score 178.009
Status Not validated
Chromosome 6
Chromosomal Location 83739626-83745308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83742715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 236 (D236G)
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: D236G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014891
Gene: ENSMUSG00000014747
AA Change: D236G

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 damaging
Transcript: ENSMUST00000206496
AA Change: D181G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.7%
  • 10x: 84.4%
  • 20x: 70.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,408,014 (GRCm39) I428L probably benign Het
Aass T C 6: 23,118,750 (GRCm39) I131V probably benign Het
Alcam T A 16: 52,115,550 (GRCm39) K189N probably benign Het
Ankrd50 C A 3: 38,509,959 (GRCm39) E803* probably null Het
Bard1 A G 1: 71,114,087 (GRCm39) V298A probably benign Het
Cacna1d C T 14: 29,900,602 (GRCm39) G361D probably damaging Het
Camkk1 A G 11: 72,916,647 (GRCm39) S82G probably benign Het
Ccr4 A T 9: 114,321,261 (GRCm39) V268E probably benign Het
Cdh6 G A 15: 13,044,805 (GRCm39) S439L possibly damaging Het
Ces1e G T 8: 93,941,711 (GRCm39) A254E probably benign Het
Cfap46 T C 7: 139,225,467 (GRCm39) T1078A Het
Cyp46a1 A G 12: 108,319,367 (GRCm39) D288G probably benign Het
Dnah6 T C 6: 73,037,243 (GRCm39) N3333S probably benign Het
Dzip3 A G 16: 48,765,241 (GRCm39) V491A probably benign Het
Egr1 G T 18: 34,996,240 (GRCm39) E341* probably null Het
Enpp1 G A 10: 24,529,848 (GRCm39) P597S probably benign Het
Ercc3 A T 18: 32,373,365 (GRCm39) probably benign Het
Fbn1 T C 2: 125,205,909 (GRCm39) probably null Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fhip1a C T 3: 85,590,948 (GRCm39) A389T probably damaging Het
Gbf1 A G 19: 46,151,982 (GRCm39) N5S probably benign Het
Gbp4 T A 5: 105,266,289 (GRCm39) H584L probably benign Het
Gcgr G T 11: 120,428,968 (GRCm39) C402F probably damaging Het
Grm7 T A 6: 110,623,050 (GRCm39) N74K probably benign Het
H1f9 A G 11: 94,859,142 (GRCm39) S146G probably benign Het
Hoxa10 T G 6: 52,211,877 (GRCm39) N13T possibly damaging Het
Ice1 A T 13: 70,772,040 (GRCm39) probably null Het
Il22 C A 10: 118,041,495 (GRCm39) N69K probably damaging Het
Il9r A T 11: 32,141,798 (GRCm39) H319Q probably benign Het
Itgax A G 7: 127,748,282 (GRCm39) T1104A probably benign Het
Jag1 C T 2: 136,943,617 (GRCm39) G193D probably damaging Het
Krt13 T A 11: 100,010,862 (GRCm39) D164V probably damaging Het
Lepr T C 4: 101,649,194 (GRCm39) M865T probably damaging Het
Lmf2 G A 15: 89,236,272 (GRCm39) H576Y possibly damaging Het
Lrrc8c C T 5: 105,756,189 (GRCm39) H655Y probably benign Het
Mapk6 A T 9: 75,304,869 (GRCm39) S183T possibly damaging Het
Mcrs1 A T 15: 99,144,832 (GRCm39) Y261N probably damaging Het
Mon1b G A 8: 114,365,254 (GRCm39) G194D probably benign Het
Myo18b C T 5: 112,982,301 (GRCm39) R1144Q probably benign Het
Myo9b T A 8: 71,795,456 (GRCm39) H808Q possibly damaging Het
Ngdn T C 14: 55,253,657 (GRCm39) I15T probably benign Het
Nhsl1 T G 10: 18,284,183 (GRCm39) S41R probably damaging Het
Numa1 A T 7: 101,663,141 (GRCm39) K2089M probably damaging Het
Obi1 T A 14: 104,743,692 (GRCm39) D129V probably damaging Het
Obscn A G 11: 58,932,507 (GRCm39) L4900P probably damaging Het
Olfm4 T A 14: 80,258,925 (GRCm39) L391Q probably benign Het
Or10g9b A T 9: 39,917,526 (GRCm39) C240S probably damaging Het
Or2ag1 A G 7: 106,472,730 (GRCm39) C241R probably damaging Het
Or5b106 T A 19: 13,123,991 (GRCm39) I11F probably benign Het
Or5b111 A G 19: 13,291,556 (GRCm39) I31T probably benign Het
Or5m9 T C 2: 85,876,862 (GRCm39) L12P probably damaging Het
Parn T A 16: 13,449,431 (GRCm39) N302Y probably benign Het
Pi4k2b T G 5: 52,905,812 (GRCm39) S118A possibly damaging Het
Piwil4 C T 9: 14,620,195 (GRCm39) V704I possibly damaging Het
Pm20d2 G A 4: 33,181,715 (GRCm39) T296M probably damaging Het
Pmpcb C T 5: 21,951,048 (GRCm39) A270V probably benign Het
Pnpt1 T C 11: 29,106,945 (GRCm39) probably null Het
Prkn T A 17: 11,286,130 (GRCm39) L41Q probably damaging Het
Rc3h1 C A 1: 160,791,110 (GRCm39) N931K probably benign Het
Rlf A G 4: 121,007,510 (GRCm39) V600A probably damaging Het
Rpl27rt A T 18: 34,870,892 (GRCm39) Q142L unknown Het
Sall1 T G 8: 89,757,731 (GRCm39) Q791P probably damaging Het
Sema3c T A 5: 17,899,731 (GRCm39) Y408N probably benign Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Tmem181a A T 17: 6,351,170 (GRCm39) M319L probably benign Het
Trim24 T C 6: 37,877,667 (GRCm39) probably null Het
Ttn T A 2: 76,719,278 (GRCm39) T7234S unknown Het
Unc13c T A 9: 73,391,021 (GRCm39) M2076L possibly damaging Het
Uroc1 C T 6: 90,340,095 (GRCm39) R667* probably null Het
Uvrag A G 7: 98,555,727 (GRCm39) F456L probably benign Het
Vmn1r215 T C 13: 23,260,530 (GRCm39) V190A probably damaging Het
Vmn2r50 T A 7: 9,771,659 (GRCm39) T681S probably benign Het
Vmn2r65 T A 7: 84,595,461 (GRCm39) T408S probably benign Het
Vps33b A G 7: 79,939,755 (GRCm39) D502G 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
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
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 PCR Primer
(F):5'- AAGTCTAGGAAAGAGGCCCC -3'
(R):5'- TTCTCACCATGGCGAGAAGG -3'

Sequencing Primer
(F):5'- CCCCAAGTAGGATATTGTCAGCATG -3'
(R):5'- GCGAGAAGGCCCTAGTTTG -3'
Posted On 2019-06-07