Incidental Mutation 'R0891:Ankrd45'
ID 83490
Institutional Source Beutler Lab
Gene Symbol Ankrd45
Ensembl Gene ENSMUSG00000044835
Gene Name ankyrin repeat domain 45
Synonyms 4933409K03Rik
MMRRC Submission 039054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0891 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 160970261-160998068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160982906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 139 (N139S)
Ref Sequence ENSEMBL: ENSMUSP00000117977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052245] [ENSMUST00000111608] [ENSMUST00000125018] [ENSMUST00000135643] [ENSMUST00000150721] [ENSMUST00000178511] [ENSMUST00000192384]
AlphaFold Q810N6
Predicted Effect possibly damaging
Transcript: ENSMUST00000052245
AA Change: N173S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059923
Gene: ENSMUSG00000044835
AA Change: N173S

DomainStartEndE-ValueType
low complexity region 27 65 N/A INTRINSIC
ANK 109 138 1.57e-2 SMART
ANK 142 171 2.45e-4 SMART
Blast:ANK 175 201 1e-5 BLAST
low complexity region 202 216 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111608
AA Change: N139S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107235
Gene: ENSMUSG00000044835
AA Change: N139S

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
ANK 75 104 1.57e-2 SMART
ANK 108 137 2.45e-4 SMART
Blast:ANK 141 167 1e-5 BLAST
low complexity region 168 182 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000125018
AA Change: N139S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117977
Gene: ENSMUSG00000044835
AA Change: N139S

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
ANK 75 104 1.57e-2 SMART
ANK 108 137 2.45e-4 SMART
Blast:ANK 141 167 9e-6 BLAST
low complexity region 168 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135643
Predicted Effect probably benign
Transcript: ENSMUST00000150721
Predicted Effect probably benign
Transcript: ENSMUST00000178511
Predicted Effect probably benign
Transcript: ENSMUST00000192384
Meta Mutation Damage Score 0.0632 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 96.7%
  • 20x: 92.2%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,156 (GRCm39) N567K possibly damaging Het
Afap1 G A 5: 36,119,196 (GRCm39) probably null Het
Angel2 G T 1: 190,677,270 (GRCm39) K517N possibly damaging Het
Ankrd36 A G 11: 5,637,316 (GRCm39) E1295G possibly damaging Het
Ano3 T C 2: 110,528,321 (GRCm39) T498A probably benign Het
Arhgap12 T C 18: 6,026,699 (GRCm39) T720A probably damaging Het
Brd10 G A 19: 29,695,053 (GRCm39) T1547I probably damaging Het
Brsk1 A G 7: 4,707,226 (GRCm39) S260G possibly damaging Het
Calml3 A G 13: 3,853,926 (GRCm39) F93S probably damaging Het
Ccnf G T 17: 24,445,751 (GRCm39) H498Q possibly damaging Het
Col27a1 A C 4: 63,223,420 (GRCm39) probably null Het
Cpne5 A G 17: 29,421,893 (GRCm39) probably benign Het
Dcst1 G A 3: 89,260,584 (GRCm39) T560I probably benign Het
Fndc7 A G 3: 108,777,904 (GRCm39) Y351H possibly damaging Het
Gen1 A G 12: 11,298,355 (GRCm39) probably benign Het
Kcnh8 A T 17: 53,212,242 (GRCm39) D680V probably damaging Het
Kmt2d A G 15: 98,750,572 (GRCm39) probably benign Het
Lrrfip1 T A 1: 90,996,337 (GRCm39) I50N probably damaging Het
Mbip A T 12: 56,387,242 (GRCm39) D132E possibly damaging Het
Nipal3 A T 4: 135,195,898 (GRCm39) I235N possibly damaging Het
Nup93 T A 8: 95,007,891 (GRCm39) probably benign Het
Or6b13 A G 7: 139,782,372 (GRCm39) Y104H probably damaging Het
Or6z6 T A 7: 6,491,471 (GRCm39) Y134F probably damaging Het
Pgbd1 T C 13: 21,606,970 (GRCm39) Y408C probably damaging Het
Pigo G A 4: 43,020,519 (GRCm39) Q808* probably null Het
Pik3r1 A T 13: 101,837,974 (GRCm39) N299K probably benign Het
Pip5k1a A G 3: 94,972,831 (GRCm39) probably benign Het
Semp2l1 T A 1: 32,585,442 (GRCm39) H156L possibly damaging Het
Septin5 G C 16: 18,443,595 (GRCm39) T118R probably damaging Het
Smarcal1 T C 1: 72,638,015 (GRCm39) V483A probably damaging Het
Togaram1 A G 12: 65,029,421 (GRCm39) D948G probably benign Het
Vmn2r75 A T 7: 85,813,476 (GRCm39) V442E possibly damaging Het
Zfp57 A G 17: 37,317,068 (GRCm39) K46E probably damaging Het
Other mutations in Ankrd45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Ankrd45 APN 1 160,990,921 (GRCm39) missense probably damaging 0.96
IGL03190:Ankrd45 APN 1 160,990,909 (GRCm39) missense probably benign 0.01
R1933:Ankrd45 UTSW 1 160,978,870 (GRCm39) missense probably damaging 1.00
R4739:Ankrd45 UTSW 1 160,982,960 (GRCm39) missense probably damaging 1.00
R4884:Ankrd45 UTSW 1 160,988,270 (GRCm39) missense possibly damaging 0.91
R4888:Ankrd45 UTSW 1 160,982,942 (GRCm39) missense probably damaging 1.00
R4989:Ankrd45 UTSW 1 160,982,876 (GRCm39) missense probably damaging 1.00
R5436:Ankrd45 UTSW 1 160,986,682 (GRCm39) intron probably benign
R7081:Ankrd45 UTSW 1 160,978,863 (GRCm39) missense probably benign 0.00
R8110:Ankrd45 UTSW 1 160,978,889 (GRCm39) critical splice donor site probably null
Z1176:Ankrd45 UTSW 1 160,990,853 (GRCm39) missense possibly damaging 0.76
Z1177:Ankrd45 UTSW 1 160,988,322 (GRCm39) missense possibly damaging 0.62
Z1177:Ankrd45 UTSW 1 160,988,308 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATCTGCTGCATAAGAGAGTCTGGAA -3'
(R):5'- GCTGGAAGGCAGAAATGTCACTCCTA -3'

Sequencing Primer
(F):5'- gctgttgcccattattgcc -3'
(R):5'- GGCAGAAATGTCACTCCTATCATTC -3'
Posted On 2013-11-08