Incidental Mutation 'IGL01652:Ankrd13a'
ID102854
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: 0.119) question?
Stock #IGL01652
Quality Score
Status
Chromosome5
Chromosomal Location114774677-114806200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114791336 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 158 (D158V)
Ref Sequence ENSEMBL: ENSMUSP00000099638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102578]
Predicted Effect probably damaging
Transcript: ENSMUST00000102578
AA Change: D158V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: D158V

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 probably damaging
Transcript: ENSMUST00000137519
AA Change: D91V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116994
Gene: ENSMUSG00000041870
AA Change: D91V

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk A T 17: 72,603,531 V60E probably damaging Het
Ank2 T C 3: 126,933,041 K868R probably benign Het
Arhgap12 G T 18: 6,061,853 N380K possibly damaging Het
Cpn1 A T 19: 43,986,094 F65L possibly damaging Het
Dlec1 T A 9: 119,143,907 H1496Q probably benign Het
Dock1 C T 7: 134,777,497 probably benign Het
Dok1 T C 6: 83,032,562 N143D probably damaging Het
Fcmr C T 1: 130,878,507 P363L probably benign Het
Galk2 A G 2: 125,896,765 T171A probably benign Het
Hrh3 G T 2: 180,101,103 P244Q possibly damaging Het
Icam1 T C 9: 21,019,176 Y109H probably damaging Het
Nup93 T C 8: 94,296,559 V132A possibly damaging Het
Olfr1218 A T 2: 89,054,569 Y286N probably damaging Het
Pla2g4f T C 2: 120,302,235 I707V possibly damaging Het
Rpgrip1 G A 14: 52,145,492 probably benign Het
Sbf2 A T 7: 110,447,120 V290E probably damaging Het
Stard3 T G 11: 98,378,733 probably benign Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Trim35 T G 14: 66,308,801 V339G probably damaging Het
Vmn1r80 A G 7: 12,193,136 I58V probably benign 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
IGL01392:Ankrd13a APN 5 114797853 missense probably benign
IGL01480:Ankrd13a APN 5 114800818 splice site probably benign
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 splice site probably null
R7849:Ankrd13a UTSW 5 114791282 missense possibly damaging 0.89
R8006:Ankrd13a UTSW 5 114804423 makesense probably null
Posted On2014-01-21