Incidental Mutation 'R0960:Ankrd13a'
ID 81819
Institutional Source Beutler Lab
Gene Symbol Ankrd13a
Ensembl Gene ENSMUSG00000041870
Gene Name ankyrin repeat domain 13a
Synonyms 1100001D10Rik
MMRRC Submission 039089-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R0960 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 114913009-114943882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 114924868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 118 (E118K)
Ref Sequence ENSEMBL: ENSMUSP00000099638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102578]
AlphaFold Q80UP5
Predicted Effect probably benign
Transcript: ENSMUST00000102578
AA Change: E118K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: E118K

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 unknown
Transcript: ENSMUST00000137519
AA Change: E51K
SMART Domains Protein: ENSMUSP00000116994
Gene: ENSMUSG00000041870
AA Change: E51K

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
Meta Mutation Damage Score 0.0972 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,792 (GRCm39) V256A probably benign Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4930474N05Rik C A 14: 35,818,367 (GRCm39) H122N probably benign Het
Aamp T C 1: 74,320,304 (GRCm39) T341A possibly damaging Het
Adam26a A T 8: 44,021,800 (GRCm39) H563Q probably damaging Het
Asic5 A G 3: 81,913,847 (GRCm39) I174V probably benign Het
Atad2b G A 12: 5,056,593 (GRCm39) probably benign Het
Bub1b A G 2: 118,437,161 (GRCm39) I120V probably benign Het
Casp8 T C 1: 58,868,172 (GRCm39) probably null Het
Cdk5rap2 A G 4: 70,161,745 (GRCm39) Y254H probably benign Het
Clasp1 T C 1: 118,479,756 (GRCm39) I996T probably benign Het
Cntn6 A G 6: 104,751,441 (GRCm39) I294V probably benign Het
Flnc A G 6: 29,441,511 (GRCm39) D431G probably damaging Het
Gm4884 T A 7: 40,692,232 (GRCm39) M67K possibly damaging Het
Hmx3 T C 7: 131,145,043 (GRCm39) Y118H probably benign Het
Hsf2bp C T 17: 32,226,743 (GRCm39) R204H probably damaging Het
Il12b G T 11: 44,299,315 (GRCm39) C128F probably damaging Het
Ints6 T C 14: 62,947,015 (GRCm39) M317V probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Kif27 T C 13: 58,471,781 (GRCm39) E769G probably damaging Het
Kif28 G A 1: 179,523,370 (GRCm39) Q987* probably null Het
Klhdc3 T C 17: 46,987,444 (GRCm39) H330R possibly damaging Het
Leo1 G A 9: 75,352,522 (GRCm39) E22K probably benign Het
Lpcat2 C T 8: 93,596,338 (GRCm39) T125M probably benign Het
Map1a A G 2: 121,132,124 (GRCm39) Y742C probably benign Het
Mllt6 C T 11: 97,555,772 (GRCm39) probably benign Het
Mpp2 A G 11: 101,952,411 (GRCm39) V354A possibly damaging Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Myo10 A G 15: 25,801,275 (GRCm39) E1488G probably damaging Het
Neb A G 2: 52,102,995 (GRCm39) V4461A probably benign Het
Nudcd1 G T 15: 44,291,047 (GRCm39) probably benign Het
Or10ag59 T C 2: 87,406,279 (GRCm39) Y284H probably benign Het
Or2w1b A C 13: 21,300,435 (GRCm39) D191A possibly damaging Het
Pde1a G A 2: 79,695,378 (GRCm39) probably benign Het
Sdha A T 13: 74,471,303 (GRCm39) probably benign Het
Selenoo T G 15: 88,980,957 (GRCm39) I432S probably benign Het
Sh3gl2 A T 4: 85,295,717 (GRCm39) I140F probably damaging Het
Svopl G T 6: 37,993,992 (GRCm39) Y346* probably null Het
Tbc1d17 C T 7: 44,497,852 (GRCm39) probably benign Het
Tlr3 A C 8: 45,850,452 (GRCm39) I815S probably damaging Het
Tmem25 T A 9: 44,706,809 (GRCm39) probably null Het
Tpd52 A T 3: 9,008,650 (GRCm39) probably null Het
Tspoap1 A T 11: 87,661,421 (GRCm39) probably benign Het
Txndc11 A T 16: 10,909,453 (GRCm39) D364E probably benign Het
Unc5cl G T 17: 48,766,624 (GRCm39) probably benign Het
Vmn1r13 A G 6: 57,186,996 (GRCm39) M52V probably benign Het
Zap70 T C 1: 36,818,254 (GRCm39) Y314H probably damaging Het
Other mutations in Ankrd13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Ankrd13a APN 5 114,939,863 (GRCm39) missense probably damaging 0.99
IGL01303:Ankrd13a APN 5 114,924,063 (GRCm39) missense possibly damaging 0.94
IGL01392:Ankrd13a APN 5 114,935,914 (GRCm39) missense probably benign
IGL01480:Ankrd13a APN 5 114,938,879 (GRCm39) splice site probably benign
IGL01652:Ankrd13a APN 5 114,929,397 (GRCm39) missense probably damaging 1.00
IGL02213:Ankrd13a APN 5 114,924,029 (GRCm39) missense probably damaging 1.00
IGL02512:Ankrd13a APN 5 114,924,827 (GRCm39) missense probably benign 0.16
IGL03268:Ankrd13a APN 5 114,930,296 (GRCm39) missense probably damaging 1.00
R0019:Ankrd13a UTSW 5 114,924,142 (GRCm39) splice site probably benign
R0019:Ankrd13a UTSW 5 114,924,142 (GRCm39) splice site probably benign
R0465:Ankrd13a UTSW 5 114,942,295 (GRCm39) missense probably damaging 0.98
R1222:Ankrd13a UTSW 5 114,938,824 (GRCm39) nonsense probably null
R1538:Ankrd13a UTSW 5 114,942,295 (GRCm39) missense possibly damaging 0.87
R1667:Ankrd13a UTSW 5 114,924,794 (GRCm39) missense possibly damaging 0.89
R1771:Ankrd13a UTSW 5 114,941,649 (GRCm39) missense probably benign 0.08
R2015:Ankrd13a UTSW 5 114,930,170 (GRCm39) missense probably damaging 1.00
R4547:Ankrd13a UTSW 5 114,913,357 (GRCm39) missense probably benign 0.01
R4569:Ankrd13a UTSW 5 114,927,373 (GRCm39) missense probably damaging 1.00
R5401:Ankrd13a UTSW 5 114,930,234 (GRCm39) missense probably damaging 1.00
R5635:Ankrd13a UTSW 5 114,939,778 (GRCm39) missense possibly damaging 0.95
R6238:Ankrd13a UTSW 5 114,924,787 (GRCm39) missense probably benign 0.00
R6562:Ankrd13a UTSW 5 114,942,453 (GRCm39) unclassified probably benign
R6623:Ankrd13a UTSW 5 114,924,818 (GRCm39) missense probably benign 0.28
R6772:Ankrd13a UTSW 5 114,939,804 (GRCm39) missense probably benign 0.00
R7146:Ankrd13a UTSW 5 114,913,293 (GRCm39) missense probably damaging 1.00
R7440:Ankrd13a UTSW 5 114,941,636 (GRCm39) missense possibly damaging 0.65
R7567:Ankrd13a UTSW 5 114,927,545 (GRCm39) splice site probably null
R7849:Ankrd13a UTSW 5 114,929,343 (GRCm39) missense possibly damaging 0.89
R8006:Ankrd13a UTSW 5 114,942,484 (GRCm39) makesense probably null
R8906:Ankrd13a UTSW 5 114,939,798 (GRCm39) missense probably benign 0.00
R8977:Ankrd13a UTSW 5 114,933,806 (GRCm39) nonsense probably null
R9231:Ankrd13a UTSW 5 114,942,295 (GRCm39) missense probably damaging 0.98
R9667:Ankrd13a UTSW 5 114,933,793 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATGCTTTGTGATTCTGTCCCACC -3'
(R):5'- GGCAAATTGTGTTGGACATGCACTG -3'

Sequencing Primer
(F):5'- GATTCTGTCCCACCCTTTGG -3'
(R):5'- GACATAACTTGTAGGAGGCCCC -3'
Posted On 2013-11-08