Incidental Mutation 'IGL01303:Ankrd13a'
ID73309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd13a
Ensembl Gene ENSMUSG00000041870
Gene Nameankyrin repeat domain 13a
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL01303
Quality Score
Status
Chromosome5
Chromosomal Location114774677-114806200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114786002 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 53 (H53L)
Ref Sequence ENSEMBL: ENSMUSP00000099638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102578]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102578
AA Change: H53L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: H53L

DomainStartEndE-ValueType
ANK 40 69 1.51e-4 SMART
ANK 73 104 2.03e-1 SMART
Pfam:GPCR_chapero_1 156 468 5.5e-107 PFAM
UIM 480 500 2.98e2 SMART
UIM 517 536 2.01e1 SMART
UIM 547 566 5.33e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137519
SMART Domains Protein: ENSMUSP00000116994
Gene: ENSMUSG00000041870

DomainStartEndE-ValueType
ANK 7 38 2.03e-1 SMART
Pfam:GPCR_chapero_1 90 403 8.2e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140604
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,194,331 T72A possibly damaging Het
Adamts7 A C 9: 90,171,734 I111L possibly damaging Het
Becn1 T C 11: 101,294,985 D145G possibly damaging Het
Bod1l A G 5: 41,817,599 V2124A probably benign Het
Celsr1 C T 15: 86,030,491 A1094T probably damaging Het
Clstn2 A T 9: 97,483,075 Y459* probably null Het
Cnksr3 A G 10: 7,154,281 probably null Het
Cux2 A T 5: 121,865,928 F1048L probably benign Het
Cybrd1 A G 2: 71,129,706 K83E probably damaging Het
Dpp8 A T 9: 65,055,012 probably benign Het
Eef2 T A 10: 81,181,943 V813E possibly damaging Het
Eef2 A T 10: 81,181,982 probably null Het
Etnk1 T G 6: 143,180,666 I79S probably damaging Het
Fam151a A G 4: 106,747,593 N384S possibly damaging Het
Fam83c A G 2: 155,834,442 L136P probably damaging Het
Gfra2 G A 14: 70,895,852 V41I probably benign Het
Gm960 T C 19: 4,659,482 T318A possibly damaging Het
Mroh9 A G 1: 163,080,575 I2T probably benign Het
Muc2 A G 7: 141,752,395 I274V probably benign Het
Nacad T G 11: 6,598,279 E1456A possibly damaging Het
Npy4r T A 14: 34,146,657 I225F possibly damaging Het
Olfr401 T G 11: 74,121,334 F15C probably damaging Het
Pik3c2a T C 7: 116,373,803 D719G possibly damaging Het
Pparg G T 6: 115,472,954 V305L possibly damaging Het
Rictor A G 15: 6,708,638 N19D probably benign Het
Slc4a1 T C 11: 102,357,964 T292A probably benign Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Sorl1 A G 9: 42,024,478 probably benign Het
Tal1 T C 4: 115,068,292 V186A probably benign Het
Trpm1 T A 7: 64,210,830 probably benign Het
Tyw5 A T 1: 57,388,553 Y297* probably null Het
Unc79 C A 12: 103,161,867 Q2131K possibly damaging Het
Other mutations in Ankrd13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Ankrd13a APN 5 114801802 missense probably damaging 0.99
IGL01392:Ankrd13a APN 5 114797853 missense probably benign
IGL01480:Ankrd13a APN 5 114800818 splice site probably benign
IGL01652:Ankrd13a APN 5 114791336 missense probably damaging 1.00
IGL02213:Ankrd13a APN 5 114785968 missense probably damaging 1.00
IGL02512:Ankrd13a APN 5 114786766 missense probably benign 0.16
IGL03268:Ankrd13a APN 5 114792235 missense probably damaging 1.00
R0019:Ankrd13a UTSW 5 114786081 splice site probably benign
R0019:Ankrd13a UTSW 5 114786081 splice site probably benign
R0465:Ankrd13a UTSW 5 114804234 missense probably damaging 0.98
R0960:Ankrd13a UTSW 5 114786807 missense probably benign 0.03
R1222:Ankrd13a UTSW 5 114800763 nonsense probably null
R1538:Ankrd13a UTSW 5 114804234 missense possibly damaging 0.87
R1667:Ankrd13a UTSW 5 114786733 missense possibly damaging 0.89
R1771:Ankrd13a UTSW 5 114803588 missense probably benign 0.08
R2015:Ankrd13a UTSW 5 114792109 missense probably damaging 1.00
R4547:Ankrd13a UTSW 5 114775296 missense probably benign 0.01
R4569:Ankrd13a UTSW 5 114789312 missense probably damaging 1.00
R5401:Ankrd13a UTSW 5 114792173 missense probably damaging 1.00
R5635:Ankrd13a UTSW 5 114801717 missense possibly damaging 0.95
R6238:Ankrd13a UTSW 5 114786726 missense probably benign 0.00
R6562:Ankrd13a UTSW 5 114804392 unclassified probably benign
R6623:Ankrd13a UTSW 5 114786757 missense probably benign 0.28
R6772:Ankrd13a UTSW 5 114801743 missense probably benign 0.00
R7146:Ankrd13a UTSW 5 114775232 missense probably damaging 1.00
R7440:Ankrd13a UTSW 5 114803575 missense possibly damaging 0.65
R7567:Ankrd13a UTSW 5 114789484 intron probably null
R7849:Ankrd13a UTSW 5 114791282 missense possibly damaging 0.89
R7932:Ankrd13a UTSW 5 114791282 missense possibly damaging 0.89
R8006:Ankrd13a UTSW 5 114804423 makesense probably null
Posted On2013-10-07