Incidental Mutation 'IGL01392:Ankrd13a'
ID79251
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: 0.146) question?
Stock #IGL01392
Quality Score
Status
Chromosome5
Chromosomal Location114774677-114806200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114797853 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 295 (E295G)
Ref Sequence ENSEMBL: ENSMUSP00000099638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102578]
Predicted Effect probably benign
Transcript: ENSMUST00000102578
AA Change: E295G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: E295G

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 noncoding transcript
Transcript: ENSMUST00000129001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131803
Predicted Effect unknown
Transcript: ENSMUST00000137519
AA Change: E228G
SMART Domains Protein: ENSMUSP00000116994
Gene: ENSMUSG00000041870
AA Change: E228G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200704
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,500,546 V2A probably benign Het
Adgrf5 A T 17: 43,450,012 Q866L probably benign Het
Arid1a T C 4: 133,681,037 D2053G unknown Het
Calr4 A G 4: 109,253,874 E272G probably benign Het
Cmya5 T C 13: 93,089,206 S3125G probably damaging Het
Dnah7b T C 1: 46,126,788 Y538H probably damaging Het
Eri3 T C 4: 117,589,159 probably null Het
Fmo6 T A 1: 162,930,011 R63* probably null Het
Gm7168 G A 17: 13,948,907 D179N probably benign Het
Gm8979 T C 7: 106,083,755 I98V probably benign Het
Got1l1 T C 8: 27,197,991 T337A probably damaging Het
Igf2r A G 17: 12,704,349 M1191T probably benign Het
Ighv1-54 A G 12: 115,193,937 L30P probably damaging Het
Igkv8-30 A G 6: 70,117,347 S27P probably benign Het
Kcnab2 A T 4: 152,393,797 V335E possibly damaging Het
Klf12 A T 14: 100,149,757 I3N probably damaging Het
Megf8 T C 7: 25,363,749 V2510A probably benign Het
Mme A G 3: 63,362,046 D592G probably damaging Het
Myh1 A G 11: 67,221,301 N1727S probably benign Het
Ncor1 A G 11: 62,340,594 S796P probably damaging Het
Nlrp14 A G 7: 107,197,913 probably benign Het
Olfr1443 T A 19: 12,680,803 Y232N probably benign Het
Olfr508 C T 7: 108,630,678 R229C probably benign Het
Olfr564 T A 7: 102,803,854 Y125* probably null Het
Plekhm2 A G 4: 141,642,426 V86A probably damaging Het
Popdc2 G T 16: 38,374,131 V305L probably benign Het
Prpmp5 T C 6: 132,312,420 N147S unknown Het
Rttn C T 18: 88,995,613 H469Y probably benign Het
Slc2a12 T C 10: 22,664,684 V146A probably damaging Het
Sptlc3 A G 2: 139,546,421 E111G possibly damaging Het
Zfp108 T C 7: 24,258,447 probably benign Het
Zfp719 T A 7: 43,591,130 F714Y probably damaging Het
Other mutations in Ankrd13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Ankrd13a APN 5 114801802 missense probably damaging 0.99
IGL01303:Ankrd13a APN 5 114786002 missense possibly damaging 0.94
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
Posted On2013-11-05