Incidental Mutation 'R0318:Ankrd23'
Institutional Source Beutler Lab
Gene Symbol Ankrd23
Ensembl Gene ENSMUSG00000067653
Gene Nameankyrin repeat domain 23
Synonyms1110058D09Rik, MARP3, MARP3, 2310041C05Rik, Darp
MMRRC Submission 038528-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0318 (G1)
Quality Score225
Status Not validated
Chromosomal Location36530188-36536883 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 36534072 bp
Amino Acid Change Threonine to Lysine at position 73 (T73K)
Ref Sequence ENSEMBL: ENSMUSP00000061168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001172] [ENSMUST00000054665] [ENSMUST00000191849] [ENSMUST00000193083] [ENSMUST00000194853] [ENSMUST00000207088] [ENSMUST00000207843]
Predicted Effect probably benign
Transcript: ENSMUST00000001172
SMART Domains Protein: ENSMUSP00000001172
Gene: ENSMUSG00000079610

ANK 30 59 8.77e2 SMART
ANK 63 92 1.08e-5 SMART
ANK 96 127 1.27e-2 SMART
ANK 129 158 5.62e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054665
AA Change: T73K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000061168
Gene: ENSMUSG00000067653
AA Change: T73K

coiled coil region 45 74 N/A INTRINSIC
low complexity region 79 94 N/A INTRINSIC
Blast:ANK 111 140 1e-9 BLAST
ANK 144 173 1.12e-3 SMART
ANK 177 206 1.4e-4 SMART
ANK 210 239 9.27e-5 SMART
ANK 243 272 7.42e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191849
SMART Domains Protein: ENSMUSP00000142202
Gene: ENSMUSG00000109510

Blast:ANK 1 26 9e-9 BLAST
ANK 30 59 1.12e-3 SMART
ANK 63 92 1.4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193083
SMART Domains Protein: ENSMUSP00000141394
Gene: ENSMUSG00000067653

Blast:ANK 1 26 1e-8 BLAST
ANK 30 59 6.9e-6 SMART
ANK 63 92 8.9e-7 SMART
ANK 96 125 5.7e-7 SMART
ANK 129 158 4.6e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193991
Predicted Effect probably benign
Transcript: ENSMUST00000194853
AA Change: T73K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141541
Gene: ENSMUSG00000067653
AA Change: T73K

coiled coil region 45 74 N/A INTRINSIC
low complexity region 79 94 N/A INTRINSIC
Blast:ANK 111 140 2e-9 BLAST
ANK 144 173 1.12e-3 SMART
ANK 177 206 1.4e-4 SMART
ANK 210 239 7.42e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207088
Predicted Effect probably benign
Transcript: ENSMUST00000207843
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 86.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and exhibit no apparent cardiac phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 58,028,974 L79Q probably damaging Het
Add1 T C 5: 34,625,340 V130A probably damaging Het
BC005561 T C 5: 104,517,753 F47S probably benign Het
Blk A G 14: 63,374,197 Y430H probably damaging Het
C3 C T 17: 57,224,709 V272M probably damaging Het
Cerk C T 15: 86,151,565 A254T possibly damaging Het
Ces2a G A 8: 104,740,824 A494T probably damaging Het
Cfap46 T C 7: 139,654,566 Y258C probably damaging Het
Chaf1a C T 17: 56,062,227 T486I possibly damaging Het
Colec12 A G 18: 9,848,446 N208S possibly damaging Het
Coro7 T A 16: 4,675,807 H63L probably benign Het
Cps1 T A 1: 67,177,014 W833R probably damaging Het
Csmd3 A T 15: 47,659,153 W2707R probably damaging Het
Dbn1 C T 13: 55,474,916 E585K probably damaging Het
Ddx50 A T 10: 62,642,837 I190K probably damaging Het
Dnmt3l G A 10: 78,055,055 V264M probably damaging Het
Dnpep A G 1: 75,316,626 V33A probably damaging Het
Fam163a A G 1: 156,079,969 C26R probably damaging Het
Fam83h A G 15: 76,003,629 S620P probably benign Het
Fcna A G 2: 25,625,059 S263P probably benign Het
Fnip2 A T 3: 79,512,378 S165R probably damaging Het
Fpr-rs3 T C 17: 20,624,148 T244A probably benign Het
Gpr152 T C 19: 4,143,542 S361P possibly damaging Het
Grm5 A T 7: 87,602,967 I142L probably damaging Het
Gucy2g A G 19: 55,237,798 S229P probably benign Het
Htr7 C T 19: 35,969,486 G376D probably damaging Het
Irgc1 T C 7: 24,432,471 D307G probably benign Het
Irs1 A T 1: 82,288,660 S612T probably benign Het
Maml2 C T 9: 13,620,594 T368I probably damaging Het
Mapkapk2 A G 1: 131,097,335 V64A probably damaging Het
Marf1 C T 16: 14,142,534 A549T probably damaging Het
Nptx1 C T 11: 119,542,541 E411K probably damaging Het
Olfr372 C T 8: 72,058,400 T240M probably damaging Het
Olfr995 C A 2: 85,438,237 R307M possibly damaging Het
Pcgf5 A T 19: 36,412,190 K22N possibly damaging Het
Psmd9 C A 5: 123,234,649 A65E possibly damaging Het
Sh3bp1 A G 15: 78,911,707 T679A probably damaging Het
Sipa1l2 G A 8: 125,447,697 P1281S possibly damaging Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc25a24 A G 3: 109,157,000 M222V probably benign Het
Smg9 T C 7: 24,420,888 F429S possibly damaging Het
Snapc1 C T 12: 73,975,032 R81C probably damaging Het
Sorl1 T A 9: 42,081,954 Y258F probably damaging Het
Srp72 C T 5: 76,984,200 T242I probably benign Het
Stc1 A T 14: 69,038,418 Q220L probably damaging Het
Tas2r122 T C 6: 132,711,832 T33A possibly damaging Het
Tbc1d10b A G 7: 127,199,034 L645P probably damaging Het
Timd4 T A 11: 46,837,071 H272Q probably benign Het
Ttll5 T G 12: 85,876,594 probably null Het
Veph1 G T 3: 66,057,259 S783Y probably damaging Het
Vmn1r230 T C 17: 20,846,816 L89S possibly damaging Het
Xcr1 A G 9: 123,856,154 V165A possibly damaging Het
Zfp286 T C 11: 62,784,962 D58G probably damaging Het
Zfyve26 C T 12: 79,276,281 R897H probably damaging Het
Other mutations in Ankrd23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01731:Ankrd23 APN 1 36534066 missense probably damaging 1.00
IGL03143:Ankrd23 APN 1 36531645 unclassified probably benign
R4926:Ankrd23 UTSW 1 36531987 missense probably damaging 1.00
R7788:Ankrd23 UTSW 1 36531727 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2013-04-16