Incidental Mutation 'R0711:Ankrd6'
ID 62723
Institutional Source Beutler Lab
Gene Symbol Ankrd6
Ensembl Gene ENSMUSG00000040183
Gene Name ankyrin repeat domain 6
Synonyms diversin
MMRRC Submission 038894-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0711 (G1)
Quality Score 171
Status Validated
Chromosome 4
Chromosomal Location 32804035-32950841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32815326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 391 (A391V)
Ref Sequence ENSEMBL: ENSMUSP00000081800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035719] [ENSMUST00000084748] [ENSMUST00000084749] [ENSMUST00000084750] [ENSMUST00000108166]
AlphaFold Q69ZU8
Predicted Effect probably damaging
Transcript: ENSMUST00000035719
AA Change: A426V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041300
Gene: ENSMUSG00000040183
AA Change: A426V

DomainStartEndE-ValueType
ANK 9 38 2.55e2 SMART
ANK 41 70 2.08e-7 SMART
ANK 74 103 3.49e0 SMART
ANK 107 136 5.24e-4 SMART
ANK 140 169 3.74e0 SMART
ANK 173 202 6.12e-5 SMART
ANK 206 235 5.32e-5 SMART
ANK 239 268 6.24e2 SMART
low complexity region 365 377 N/A INTRINSIC
coiled coil region 417 445 N/A INTRINSIC
low complexity region 536 556 N/A INTRINSIC
low complexity region 625 643 N/A INTRINSIC
coiled coil region 672 712 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084748
AA Change: A391V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081800
Gene: ENSMUSG00000040183
AA Change: A391V

DomainStartEndE-ValueType
ANK 9 38 2.55e2 SMART
ANK 41 70 2.08e-7 SMART
ANK 74 103 3.49e0 SMART
ANK 107 136 5.24e-4 SMART
ANK 140 169 3.74e0 SMART
ANK 173 202 6.12e-5 SMART
ANK 206 235 5.32e-5 SMART
ANK 239 269 2.11e2 SMART
low complexity region 330 342 N/A INTRINSIC
coiled coil region 382 410 N/A INTRINSIC
low complexity region 501 521 N/A INTRINSIC
low complexity region 590 608 N/A INTRINSIC
coiled coil region 637 677 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084749
AA Change: A426V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081801
Gene: ENSMUSG00000040183
AA Change: A426V

DomainStartEndE-ValueType
ANK 9 38 2.55e2 SMART
ANK 41 70 2.08e-7 SMART
ANK 74 103 3.49e0 SMART
ANK 107 136 5.24e-4 SMART
ANK 140 169 3.74e0 SMART
ANK 173 202 6.12e-5 SMART
ANK 206 235 5.32e-5 SMART
ANK 239 268 6.24e2 SMART
low complexity region 365 377 N/A INTRINSIC
coiled coil region 417 445 N/A INTRINSIC
low complexity region 536 556 N/A INTRINSIC
low complexity region 625 643 N/A INTRINSIC
coiled coil region 672 712 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084750
AA Change: A426V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081802
Gene: ENSMUSG00000040183
AA Change: A426V

DomainStartEndE-ValueType
ANK 9 38 2.55e2 SMART
ANK 41 70 2.08e-7 SMART
ANK 74 103 3.49e0 SMART
ANK 107 136 5.24e-4 SMART
ANK 140 169 3.74e0 SMART
ANK 173 202 6.12e-5 SMART
ANK 206 235 5.32e-5 SMART
ANK 239 268 6.24e2 SMART
low complexity region 365 377 N/A INTRINSIC
coiled coil region 417 445 N/A INTRINSIC
low complexity region 536 556 N/A INTRINSIC
low complexity region 625 643 N/A INTRINSIC
coiled coil region 672 712 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108166
AA Change: A367V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103801
Gene: ENSMUSG00000040183
AA Change: A367V

DomainStartEndE-ValueType
ANK 9 38 2.55e2 SMART
ANK 41 70 2.08e-7 SMART
ANK 74 103 3.49e0 SMART
ANK 107 136 3.74e0 SMART
ANK 140 169 6.12e-5 SMART
ANK 173 202 5.32e-5 SMART
low complexity region 207 227 N/A INTRINSIC
low complexity region 306 318 N/A INTRINSIC
coiled coil region 358 386 N/A INTRINSIC
low complexity region 468 491 N/A INTRINSIC
low complexity region 561 579 N/A INTRINSIC
coiled coil region 608 648 N/A INTRINSIC
Meta Mutation Damage Score 0.1181 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
MGI Phenotype FUNCTION: This gene encodes a protein which is thought to be involved in the Wnt signaling pathway and embryonic axis formation. Similar genes have been found in human, rhesus macaque, and zebrafish. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display sporadic disruption of utricle hair cell polarity but normal cochlear and vestibular hair cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) probably benign Het
Other mutations in Ankrd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02489:Ankrd6 APN 4 32,810,298 (GRCm39) missense probably damaging 1.00
IGL03247:Ankrd6 APN 4 32,860,441 (GRCm39) start codon destroyed possibly damaging 0.76
IGL03382:Ankrd6 APN 4 32,808,771 (GRCm39) missense probably damaging 1.00
R0360:Ankrd6 UTSW 4 32,836,424 (GRCm39) missense probably damaging 1.00
R1074:Ankrd6 UTSW 4 32,822,232 (GRCm39) missense probably damaging 1.00
R1075:Ankrd6 UTSW 4 32,822,232 (GRCm39) missense probably damaging 1.00
R1498:Ankrd6 UTSW 4 32,810,289 (GRCm39) missense probably benign 0.17
R1719:Ankrd6 UTSW 4 32,828,774 (GRCm39) missense probably damaging 1.00
R1823:Ankrd6 UTSW 4 32,824,427 (GRCm39) missense probably damaging 1.00
R2889:Ankrd6 UTSW 4 32,818,704 (GRCm39) missense probably damaging 0.99
R2897:Ankrd6 UTSW 4 32,860,438 (GRCm39) missense probably damaging 0.98
R3815:Ankrd6 UTSW 4 32,806,206 (GRCm39) missense probably benign 0.39
R3836:Ankrd6 UTSW 4 32,817,531 (GRCm39) missense probably damaging 1.00
R4127:Ankrd6 UTSW 4 32,822,241 (GRCm39) missense probably damaging 1.00
R4994:Ankrd6 UTSW 4 32,860,387 (GRCm39) missense probably damaging 0.99
R5250:Ankrd6 UTSW 4 32,860,335 (GRCm39) missense probably damaging 1.00
R5291:Ankrd6 UTSW 4 32,823,446 (GRCm39) missense probably damaging 1.00
R5335:Ankrd6 UTSW 4 32,818,651 (GRCm39) missense probably damaging 1.00
R5948:Ankrd6 UTSW 4 32,817,075 (GRCm39) missense possibly damaging 0.91
R6336:Ankrd6 UTSW 4 32,860,411 (GRCm39) missense probably damaging 1.00
R6345:Ankrd6 UTSW 4 32,810,266 (GRCm39) missense probably damaging 1.00
R6349:Ankrd6 UTSW 4 32,822,231 (GRCm39) missense probably damaging 1.00
R6516:Ankrd6 UTSW 4 32,836,427 (GRCm39) missense probably damaging 1.00
R6902:Ankrd6 UTSW 4 32,806,420 (GRCm39) missense probably damaging 1.00
R6902:Ankrd6 UTSW 4 32,806,419 (GRCm39) missense probably damaging 1.00
R6999:Ankrd6 UTSW 4 32,823,459 (GRCm39) missense probably benign
R7044:Ankrd6 UTSW 4 32,815,260 (GRCm39) missense possibly damaging 0.93
R7307:Ankrd6 UTSW 4 32,816,949 (GRCm39) missense possibly damaging 0.92
R7394:Ankrd6 UTSW 4 32,821,298 (GRCm39) missense probably damaging 0.99
R7496:Ankrd6 UTSW 4 32,810,299 (GRCm39) missense probably damaging 0.99
R7662:Ankrd6 UTSW 4 32,818,694 (GRCm39) missense probably damaging 1.00
R7873:Ankrd6 UTSW 4 32,806,499 (GRCm39) missense possibly damaging 0.91
R8328:Ankrd6 UTSW 4 32,810,215 (GRCm39) missense probably benign 0.27
R8739:Ankrd6 UTSW 4 32,806,337 (GRCm39) missense possibly damaging 0.47
R8937:Ankrd6 UTSW 4 32,823,452 (GRCm39) missense possibly damaging 0.95
R9211:Ankrd6 UTSW 4 32,806,580 (GRCm39) missense probably damaging 1.00
R9295:Ankrd6 UTSW 4 32,822,160 (GRCm39) missense probably damaging 0.98
R9319:Ankrd6 UTSW 4 32,806,324 (GRCm39) missense probably benign 0.02
R9702:Ankrd6 UTSW 4 32,810,202 (GRCm39) missense possibly damaging 0.49
R9741:Ankrd6 UTSW 4 32,860,339 (GRCm39) nonsense probably null
X0064:Ankrd6 UTSW 4 32,806,435 (GRCm39) missense possibly damaging 0.93
Z1176:Ankrd6 UTSW 4 32,824,486 (GRCm39) missense probably damaging 0.98
Z1176:Ankrd6 UTSW 4 32,806,326 (GRCm39) missense probably benign 0.08
Z1176:Ankrd6 UTSW 4 32,806,229 (GRCm39) missense possibly damaging 0.86
Predicted Primers
Posted On 2013-07-30