Incidental Mutation 'R3815:Ankrd6'
ID 274226
Institutional Source Beutler Lab
Gene Symbol Ankrd6
Ensembl Gene ENSMUSG00000040183
Gene Name ankyrin repeat domain 6
Synonyms diversin
MMRRC Submission 040770-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3815 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 32804035-32950841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 32806206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 618 (S618R)
Ref Sequence ENSEMBL: ENSMUSP00000103801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035719] [ENSMUST00000062802] [ENSMUST00000084748] [ENSMUST00000084749] [ENSMUST00000084750] [ENSMUST00000108166]
AlphaFold Q69ZU8
Predicted Effect probably benign
Transcript: ENSMUST00000035719
AA Change: S682R

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041300
Gene: ENSMUSG00000040183
AA Change: S682R

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 benign
Transcript: ENSMUST00000062802
SMART Domains Protein: ENSMUSP00000061451
Gene: ENSMUSG00000045854

DomainStartEndE-ValueType
Pfam:Complex1_LYR 20 78 7.7e-21 PFAM
Pfam:Complex1_LYR_1 20 80 5.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084748
AA Change: S647R

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000081800
Gene: ENSMUSG00000040183
AA Change: S647R

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 benign
Transcript: ENSMUST00000084749
AA Change: S682R

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081801
Gene: ENSMUSG00000040183
AA Change: S682R

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 benign
Transcript: ENSMUST00000084750
AA Change: S682R

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081802
Gene: ENSMUSG00000040183
AA Change: S682R

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 benign
Transcript: ENSMUST00000108166
AA Change: S618R

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103801
Gene: ENSMUSG00000040183
AA Change: S618R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135833
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,558,944 (GRCm39) S299P probably damaging Het
Apobec3 G T 15: 79,783,301 (GRCm39) R126M possibly damaging Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
AW554918 C T 18: 25,533,104 (GRCm39) R253C probably benign Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Cdca7l G A 12: 117,835,948 (GRCm39) V95I probably damaging Het
Ces1e A G 8: 93,928,467 (GRCm39) probably null Het
Cfap90 A G 13: 68,759,344 (GRCm39) H106R probably damaging Het
Coq5 T G 5: 115,433,957 (GRCm39) F306V probably damaging Het
Cpsf1 A G 15: 76,485,349 (GRCm39) V501A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cul5 T A 9: 53,534,243 (GRCm39) I630L probably benign Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dedd A G 1: 171,166,469 (GRCm39) E135G probably benign Het
Ecel1 A G 1: 87,080,622 (GRCm39) F368S probably damaging Het
Ext1 A C 15: 53,208,485 (GRCm39) I92S probably benign Het
Fbxw5 A T 2: 25,393,576 (GRCm39) D268V possibly damaging Het
Flacc1 T G 1: 58,698,164 (GRCm39) N379T probably damaging Het
Gen1 A T 12: 11,302,034 (GRCm39) V192E possibly damaging Het
Gm11077 T G 6: 140,675,041 (GRCm39) V11G unknown Het
Ift88 A T 14: 57,678,438 (GRCm39) E150V possibly damaging Het
Kcna1 T C 6: 126,620,009 (GRCm39) R104G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt82 A G 15: 101,459,035 (GRCm39) S2P probably damaging Het
Luc7l2 T C 6: 38,547,526 (GRCm39) S69P possibly damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Mamstr G T 7: 45,293,956 (GRCm39) R20L probably damaging Het
Nav1 C A 1: 135,398,862 (GRCm39) K573N possibly damaging Het
Or5b104 T C 19: 13,072,277 (GRCm39) H245R probably damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Palld T A 8: 62,002,871 (GRCm39) probably benign Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Ppp1r9b A T 11: 94,883,359 (GRCm39) E329V probably damaging Het
Rarres1 T A 3: 67,422,654 (GRCm39) D32V probably benign Het
Rhobtb1 A G 10: 69,121,523 (GRCm39) H53R possibly damaging Het
Ryr1 A T 7: 28,772,327 (GRCm39) S2494T probably damaging Het
Sapcd2 G A 2: 25,263,518 (GRCm39) probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp1 A C 15: 97,954,713 (GRCm39) D490E probably damaging Het
Sfrp5 C T 19: 42,187,230 (GRCm39) R280H probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Skint5 G A 4: 113,703,496 (GRCm39) T499I possibly damaging Het
Smad1 G A 8: 80,070,359 (GRCm39) A393V probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Spire1 G T 18: 67,639,733 (GRCm39) T273K probably benign Het
Tep1 T C 14: 51,105,772 (GRCm39) T83A possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttn T A 2: 76,552,077 (GRCm39) R29441* probably null Het
Wdr37 A G 13: 8,903,632 (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
R0711:Ankrd6 UTSW 4 32,815,326 (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
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 PCR Primer
(F):5'- TTGGGCGTGACAACCAACTC -3'
(R):5'- AGACTGGATCCTGTGTCAACCG -3'

Sequencing Primer
(F):5'- AACTCCTGGGACACCGTTACTTG -3'
(R):5'- ATCCTGTGTCAACCGAGGCAC -3'
Posted On 2015-04-02