Incidental Mutation 'R4352:Ankrd54'
ID327367
Institutional Source Beutler Lab
Gene Symbol Ankrd54
Ensembl Gene ENSMUSG00000033055
Gene Nameankyrin repeat domain 54
SynonymsC730048E16Rik, Liar
MMRRC Submission 041668-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.773) question?
Stock #R4352 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location79053094-79062893 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79055462 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 176 (F176I)
Ref Sequence ENSEMBL: ENSMUSP00000114322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040676] [ENSMUST00000151889] [ENSMUST00000153003]
Predicted Effect probably benign
Transcript: ENSMUST00000040676
SMART Domains Protein: ENSMUSP00000047042
Gene: ENSMUSG00000033055

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
ANK 108 137 1.19e3 SMART
ANK 141 170 1.69e-7 SMART
ANK 174 203 3.01e-4 SMART
ANK 207 243 1.06e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133541
Predicted Effect probably benign
Transcript: ENSMUST00000151889
AA Change: F176I

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114322
Gene: ENSMUSG00000033055
AA Change: F176I

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
ANK 108 137 8.62e1 SMART
ANK 141 174 2.03e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153003
SMART Domains Protein: ENSMUSP00000117852
Gene: ENSMUSG00000033055

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156411
SMART Domains Protein: ENSMUSP00000119739
Gene: ENSMUSG00000033055

DomainStartEndE-ValueType
Blast:ANK 9 45 6e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230803
Meta Mutation Damage Score 0.1248 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (79/82)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,580,386 A115T probably benign Het
Abtb2 T A 2: 103,683,393 D382E possibly damaging Het
Adamts1 T A 16: 85,802,346 D122V probably benign Het
Ano3 T A 2: 110,745,894 E94V possibly damaging Het
Arid1b A T 17: 5,097,584 Q587L possibly damaging Het
Atg2a G A 19: 6,257,457 V1474M probably benign Het
Bcl2a1d A G 9: 88,731,499 V74A probably damaging Het
Bmper A G 9: 23,483,952 I660V probably benign Het
Cdh20 A G 1: 104,979,089 D547G probably damaging Het
Cds2 T A 2: 132,263,445 M1K probably null Het
Ctr9 T A 7: 111,049,318 Y722N probably damaging Het
Ddx47 C T 6: 135,018,055 T161I probably benign Het
Dvl3 T C 16: 20,525,644 Y257H possibly damaging Het
Dzip1 T C 14: 118,883,526 D673G probably benign Het
Emilin2 T C 17: 71,280,731 M129V probably benign Het
Eml1 A T 12: 108,534,837 probably benign Het
Espnl A T 1: 91,334,721 D296V probably damaging Het
Fam161a T G 11: 23,020,798 S109R possibly damaging Het
Fat3 T G 9: 16,246,778 T1179P possibly damaging Het
Gfra1 A T 19: 58,267,024 N330K probably benign Het
Gfy T C 7: 45,177,616 E352G probably benign Het
Gm11639 T A 11: 104,739,314 L957Q probably null Het
Gm12569 A G 11: 51,234,819 N190D possibly damaging Het
Gm20775 A T Y: 10,641,648 noncoding transcript Het
Gm5885 T A 6: 133,531,189 noncoding transcript Het
Gpatch11 T C 17: 78,841,017 L128P probably damaging Het
H2-Q1 A G 17: 35,320,943 N63D possibly damaging Het
Itgb2 A T 10: 77,556,167 N358I probably benign Het
Jmjd1c A G 10: 67,244,809 T2247A probably damaging Het
Kcnma1 T A 14: 23,311,652 K1036I probably damaging Het
Llgl1 C T 11: 60,709,568 P581L probably benign Het
Lrch1 G T 14: 74,818,578 S278R probably damaging Het
Lrp2 C A 2: 69,432,182 probably null Het
Lyn G A 4: 3,789,796 R443H probably damaging Het
Mecom C A 3: 29,966,738 V452L possibly damaging Het
Mpzl1 G A 1: 165,605,807 Q36* probably null Het
Npr2 T C 4: 43,646,592 S647P probably damaging Het
Nrp2 A G 1: 62,738,417 D127G probably damaging Het
Otogl A T 10: 107,869,535 C644S probably damaging Het
Pabpc4 C T 4: 123,290,267 T191I probably damaging Het
Paqr3 T C 5: 97,099,596 T218A probably benign Het
Pcdh7 C T 5: 57,722,019 S972L possibly damaging Het
Pcnx2 T C 8: 125,762,851 H1668R probably damaging Het
Prpmp5 T G 6: 132,313,661 Y25S unknown Het
Ralb A G 1: 119,483,552 M19T probably benign Het
Rcan1 A G 16: 92,393,496 I185T probably benign Het
Rnf38 A T 4: 44,149,100 N82K possibly damaging Het
Rock1 T A 18: 10,079,237 Q1077L probably damaging Het
Sesn3 C T 9: 14,320,373 A200V probably damaging Het
Shh T C 5: 28,458,189 E327G probably benign Het
Shmt2 G A 10: 127,518,817 A333V probably damaging Het
Slc15a2 T A 16: 36,772,028 I256F probably benign Het
Sptbn5 T C 2: 120,083,199 noncoding transcript Het
Sst A G 16: 23,889,815 S89P probably damaging Het
Taf10 A G 7: 105,743,407 probably benign Het
Tas2r139 T A 6: 42,141,755 W274R probably damaging Het
Tbc1d20 T A 2: 152,308,194 probably benign Het
Tbc1d5 A G 17: 50,782,401 S584P probably damaging Het
Tcstv1 T C 13: 119,893,871 D75G probably damaging Het
Tex10 T G 4: 48,452,039 T696P possibly damaging Het
Tgfbr1 T C 4: 47,402,863 F206S probably damaging Het
Tmem241 A T 18: 12,113,439 H51Q probably benign Het
Trim5 A T 7: 104,276,808 V182D probably damaging Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Txnl1 A G 18: 63,671,679 V248A possibly damaging Het
Ubr5 A G 15: 38,041,573 V204A probably benign Het
Ugp2 C T 11: 21,329,026 V387I probably damaging Het
Unc45b G A 11: 82,913,209 D71N probably damaging Het
Usp34 A T 11: 23,320,727 Y37F possibly damaging Het
Zfp943 A T 17: 21,993,123 I397F probably damaging Het
Other mutations in Ankrd54
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0883:Ankrd54 UTSW 15 79062731 missense probably damaging 1.00
R4688:Ankrd54 UTSW 15 79054582 missense probably damaging 1.00
R5662:Ankrd54 UTSW 15 79062614 missense possibly damaging 0.83
R6595:Ankrd54 UTSW 15 79057985 missense probably damaging 1.00
R7060:Ankrd54 UTSW 15 79055539 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GGAATCACTCACCTGCTTCAC -3'
(R):5'- AAGCTGGACTTGGTCTGAGTC -3'

Sequencing Primer
(F):5'- TGCTTCACCTCCAGGCG -3'
(R):5'- TACTCAGTAGGGCATCCTGC -3'
Posted On2015-07-07