Incidental Mutation 'R8348:Ankrd7'
ID 645358
Institutional Source Beutler Lab
Gene Symbol Ankrd7
Ensembl Gene ENSMUSG00000029517
Gene Name ankyrin repeat domain 7
Synonyms 4930532L20Rik
MMRRC Submission 067732-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8348 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 18866317-18879585 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18868007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 91 (N91S)
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: N91S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031489
Gene: ENSMUSG00000029517
AA Change: N91S

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: N91S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111054
Gene: ENSMUSG00000029517
AA Change: N91S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,461,022 (GRCm39) probably null Het
Adamts6 T A 13: 104,616,027 (GRCm39) C1030S probably damaging Het
Adamtsl3 C A 7: 82,253,007 (GRCm39) T1527K possibly damaging Het
Akap9 G A 5: 3,998,897 (GRCm39) probably null Het
Ankle2 C A 5: 110,389,909 (GRCm39) P457T possibly damaging Het
Ascc3 C A 10: 50,494,173 (GRCm39) Q203K probably benign Het
Baz2b A T 2: 59,742,137 (GRCm39) D61E Het
Bmpr1a T A 14: 34,136,759 (GRCm39) K477N probably benign Het
Cacna1d T C 14: 29,824,364 (GRCm39) I1040V probably damaging Het
Castor2 T C 5: 134,166,955 (GRCm39) F304L possibly damaging Het
Cdkn2a C A 4: 89,200,291 (GRCm39) V20L possibly damaging Het
Chd5 A G 4: 152,445,173 (GRCm39) S385G probably damaging Het
Cntrob A G 11: 69,190,679 (GRCm39) F46L unknown Het
Cth T C 3: 157,630,657 (GRCm39) D4G probably benign Het
Cyld C T 8: 89,456,197 (GRCm39) H416Y probably damaging Het
Dennd6a C A 14: 26,328,098 (GRCm39) H264Q possibly damaging Het
Dnah1 T C 14: 31,015,682 (GRCm39) Y1672C probably damaging Het
Dnah8 A G 17: 30,892,814 (GRCm39) I800V probably benign Het
Esrp2 A G 8: 106,858,853 (GRCm39) Y595H probably damaging Het
F12 T A 13: 55,566,301 (GRCm39) Y497F probably benign Het
Fggy A G 4: 95,732,427 (GRCm39) T473A probably benign Het
Garre1 A T 7: 33,984,569 (GRCm39) L18Q probably damaging Het
Gm21103 C A 14: 17,482,861 (GRCm39) R180L probably benign Het
Gstt2 C A 10: 75,668,526 (GRCm39) R107L probably damaging Het
Hectd4 A T 5: 121,358,319 (GRCm39) probably benign Het
Helb A G 10: 119,938,791 (GRCm39) F561S probably damaging Het
Ints2 T C 11: 86,146,249 (GRCm39) T120A probably benign Het
Kdm5d G A Y: 914,056 (GRCm39) R331H probably benign Het
Krt6b A G 15: 101,586,455 (GRCm39) Y345H probably damaging Het
Limch1 A G 5: 67,159,825 (GRCm39) K418E probably damaging Het
Lrrc37 T A 11: 103,511,726 (GRCm39) T81S unknown Het
Med17 C T 9: 15,173,735 (GRCm39) probably null Het
Met A T 6: 17,571,799 (GRCm39) I1373F probably benign Het
Naip6 T A 13: 100,436,894 (GRCm39) Q543L possibly damaging Het
Nat9 T C 11: 115,075,902 (GRCm39) T40A probably damaging Het
Ogdh A G 11: 6,292,619 (GRCm39) N455S probably damaging Het
Or52k2 C A 7: 102,254,207 (GRCm39) F215L probably benign Het
Pde4a T C 9: 21,117,534 (GRCm39) F599L probably benign Het
Pga5 T C 19: 10,649,173 (GRCm39) Y249C probably damaging Het
Plekha8 A T 6: 54,607,539 (GRCm39) K382M probably damaging Het
Plekhd1 A T 12: 80,753,149 (GRCm39) E119V probably damaging Het
Pnp A T 14: 51,185,356 (GRCm39) H20L probably benign Het
Polq A T 16: 36,837,559 (GRCm39) probably null Het
Psma3 T G 12: 71,035,250 (GRCm39) I177R probably damaging Het
Ptpn3 A G 4: 57,240,784 (GRCm39) probably null Het
Ptprt A T 2: 161,400,806 (GRCm39) L1077Q probably damaging Het
Rbm47 A T 5: 66,184,573 (GRCm39) M10K possibly damaging Het
Rere A G 4: 150,703,653 (GRCm39) D186G probably damaging Het
Rpl24 T C 16: 55,787,453 (GRCm39) S38P probably damaging Het
Slco1a1 A T 6: 141,885,787 (GRCm39) F79L possibly damaging Het
Sorl1 T A 9: 41,903,041 (GRCm39) D1551V probably benign Het
Sos1 C A 17: 80,741,548 (GRCm39) M412I probably benign Het
Spast G A 17: 74,666,293 (GRCm39) V209I probably benign Het
Spindoc G T 19: 7,335,769 (GRCm39) Q340K possibly damaging Het
Tlr6 T C 5: 65,111,185 (GRCm39) Y574C probably damaging Het
Tnrc6a A G 7: 122,791,346 (GRCm39) N1748S possibly damaging Het
Trbv13-2 A T 6: 41,098,474 (GRCm39) K16N probably benign Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Ubc C T 5: 125,465,095 (GRCm39) M77I probably damaging Het
Usp24 A G 4: 106,225,933 (GRCm39) D659G possibly damaging Het
Vmn2r88 T A 14: 51,656,253 (GRCm39) C821S probably damaging Het
Whamm T A 7: 81,224,295 (GRCm39) V197D probably damaging Het
Zfp777 A G 6: 48,006,101 (GRCm39) F431S probably damaging 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
R4582: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
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'- AGAGCAATCTGAATTGTGTTAGGG -3'
(R):5'- ACTGCCTGCTAGTGGAACAAG -3'

Sequencing Primer
(F):5'- TGAAGTCCAGATACCATTTGTTTTTC -3'
(R):5'- GAGTGGACAACTTCCTATTTCAGG -3'
Posted On 2020-09-02