Incidental Mutation 'R4582:Ankrd7'
ID 343727
Institutional Source Beutler Lab
Gene Symbol Ankrd7
Ensembl Gene ENSMUSG00000029517
Gene Name ankyrin repeat domain 7
Synonyms 4930532L20Rik
MMRRC Submission 041803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4582 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 18866317-18879585 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18868020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 95 (N95K)
Ref Sequence ENSEMBL: ENSMUSP00000111054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031489] [ENSMUST00000115396]
AlphaFold Q9D504
Predicted Effect possibly damaging
Transcript: ENSMUST00000031489
AA Change: N95K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031489
Gene: ENSMUSG00000029517
AA Change: N95K

DomainStartEndE-ValueType
low complexity region 46 55 N/A INTRINSIC
ANK 80 109 1.06e-4 SMART
ANK 113 142 5.45e-2 SMART
ANK 146 175 6.92e-4 SMART
ANK 179 208 1.94e-7 SMART
ANK 212 241 1.99e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115396
AA Change: N95K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111054
Gene: ENSMUSG00000029517
AA Change: N95K

DomainStartEndE-ValueType
low complexity region 46 55 N/A INTRINSIC
ANK 80 109 1.06e-4 SMART
ANK 113 143 3.07e2 SMART
ANK 147 176 6.92e-4 SMART
ANK 180 209 1.94e-7 SMART
ANK 213 242 1.99e2 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra A T 15: 41,732,681 (GRCm39) D128E probably benign Het
Akap11 A T 14: 78,749,369 (GRCm39) V1006E possibly damaging Het
Brd9 T C 13: 74,095,852 (GRCm39) F366L probably benign Het
Brinp2 A G 1: 158,095,508 (GRCm39) F118L probably damaging Het
Ccdc138 T C 10: 58,343,465 (GRCm39) probably null Het
Celsr3 T C 9: 108,722,922 (GRCm39) F189L probably damaging Het
Cfap45 A G 1: 172,357,479 (GRCm39) T36A probably benign Het
Clec4a1 G T 6: 122,909,150 (GRCm39) V173L possibly damaging Het
Col6a5 G A 9: 105,739,963 (GRCm39) T2552I probably benign Het
Dcaf15 A G 8: 84,824,598 (GRCm39) V533A probably damaging Het
Dhrs9 A T 2: 69,227,997 (GRCm39) I204F probably damaging Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Eef1akmt1 T C 14: 57,787,905 (GRCm39) D151G probably damaging Het
Eif4g3 G A 4: 137,898,556 (GRCm39) R1109H probably damaging Het
Gtpbp10 T C 5: 5,592,395 (GRCm39) T191A possibly damaging Het
Hectd4 A G 5: 121,424,482 (GRCm39) N714S possibly damaging Het
Lima1 T C 15: 99,678,873 (GRCm39) T523A possibly damaging Het
Lipe A G 7: 25,097,127 (GRCm39) L272P probably benign Het
Llgl2 A G 11: 115,741,532 (GRCm39) E554G possibly damaging Het
Lrrc66 T C 5: 73,765,580 (GRCm39) S488G possibly damaging Het
Man2a1 C T 17: 65,059,494 (GRCm39) A1127V probably benign Het
Naglu A T 11: 100,962,755 (GRCm39) I187F probably damaging Het
Nt5c1b T A 12: 10,440,054 (GRCm39) M548K probably damaging Het
Or10ak14 A T 4: 118,611,090 (GRCm39) I217N probably damaging Het
Or6c38 A T 10: 128,929,027 (GRCm39) V272E possibly damaging Het
Pcdha3 T C 18: 37,080,485 (GRCm39) V409A probably benign Het
Pde6b A T 5: 108,573,097 (GRCm39) probably null Het
Pkd2 A T 5: 104,650,210 (GRCm39) K857* probably null Het
Rfx4 T A 10: 84,680,164 (GRCm39) S114T possibly damaging Het
Sacs G A 14: 61,429,147 (GRCm39) G402D probably damaging Het
Slc22a5 C T 11: 53,782,035 (GRCm39) E111K probably damaging Het
Sptbn1 G A 11: 30,169,597 (GRCm39) R44C probably damaging Het
Taf1 T C X: 100,637,601 (GRCm39) V1696A possibly damaging Het
Tm9sf3 C A 19: 41,244,605 (GRCm39) G91C probably damaging Het
Tmie T G 9: 110,702,865 (GRCm39) E32A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsga13 A T 6: 30,879,298 (GRCm39) N138K probably benign Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a10 A T 1: 87,983,463 (GRCm39) D87V possibly damaging Het
Vdac3-ps1 A T 13: 18,206,177 (GRCm39) noncoding transcript Het
Vmn1r29 A C 6: 58,285,017 (GRCm39) I246L probably damaging Het
Zbtb16 A G 9: 48,743,382 (GRCm39) V310A probably benign Het
Other mutations in Ankrd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Ankrd7 APN 6 18,879,345 (GRCm39) missense probably damaging 0.99
IGL01336:Ankrd7 APN 6 18,868,277 (GRCm39) missense probably benign 0.05
IGL01916:Ankrd7 APN 6 18,868,250 (GRCm39) missense possibly damaging 0.65
IGL02398:Ankrd7 APN 6 18,866,696 (GRCm39) missense probably damaging 0.99
R0031:Ankrd7 UTSW 6 18,870,007 (GRCm39) nonsense probably null
R0157:Ankrd7 UTSW 6 18,866,539 (GRCm39) missense probably damaging 0.98
R0207:Ankrd7 UTSW 6 18,870,030 (GRCm39) missense probably benign 0.09
R2154:Ankrd7 UTSW 6 18,870,030 (GRCm39) missense probably benign 0.09
R4255:Ankrd7 UTSW 6 18,869,880 (GRCm39) splice site probably null
R4581:Ankrd7 UTSW 6 18,868,020 (GRCm39) missense probably damaging 0.99
R4958:Ankrd7 UTSW 6 18,866,722 (GRCm39) missense probably benign 0.05
R5194:Ankrd7 UTSW 6 18,868,076 (GRCm39) missense possibly damaging 0.67
R6077:Ankrd7 UTSW 6 18,868,071 (GRCm39) missense probably benign 0.08
R6731:Ankrd7 UTSW 6 18,866,653 (GRCm39) missense probably damaging 1.00
R6898:Ankrd7 UTSW 6 18,868,100 (GRCm39) splice site probably null
R7170:Ankrd7 UTSW 6 18,868,389 (GRCm39) nonsense probably null
R7194:Ankrd7 UTSW 6 18,879,342 (GRCm39) missense probably benign 0.00
R7749:Ankrd7 UTSW 6 18,879,515 (GRCm39) splice site probably null
R8348:Ankrd7 UTSW 6 18,868,007 (GRCm39) missense probably damaging 0.96
R8383:Ankrd7 UTSW 6 18,868,410 (GRCm39) missense possibly damaging 0.86
R8448:Ankrd7 UTSW 6 18,868,007 (GRCm39) missense probably damaging 0.96
R8850:Ankrd7 UTSW 6 18,870,006 (GRCm39) missense probably damaging 1.00
R9530:Ankrd7 UTSW 6 18,868,258 (GRCm39) missense probably benign 0.00
R9751:Ankrd7 UTSW 6 18,868,024 (GRCm39) missense probably damaging 0.99
RF012:Ankrd7 UTSW 6 18,869,274 (GRCm39) missense possibly damaging 0.76
Z1177:Ankrd7 UTSW 6 18,866,563 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- GAGAGCAATCTGAATTGTGTTAGG -3'
(R):5'- TACTGCCTGCTAGTGGAACAAG -3'

Sequencing Primer
(F):5'- AGCAATCTGAATTGTGTTAGGGTATC -3'
(R):5'- GAGTGGACAACTTCCTATTTCAGG -3'
Posted On 2015-09-24