Incidental Mutation 'R0465:Ankrd13a'
ID 41566
Institutional Source Beutler Lab
Gene Symbol Ankrd13a
Ensembl Gene ENSMUSG00000041870
Gene Name ankyrin repeat domain 13a
Synonyms 1100001D10Rik
MMRRC Submission 038665-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R0465 (G1)
Quality Score 120
Status Validated
Chromosome 5
Chromosomal Location 114913009-114943882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114942295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 526 (I526N)
Ref Sequence ENSEMBL: ENSMUSP00000099638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102578] [ENSMUST00000112160] [ENSMUST00000140374]
AlphaFold Q80UP5
Predicted Effect probably damaging
Transcript: ENSMUST00000102578
AA Change: I526N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: I526N

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: ENSMUST00000112160
SMART Domains Protein: ENSMUSP00000107786
Gene: ENSMUSG00000072694

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131803
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 probably benign
Transcript: ENSMUST00000140374
SMART Domains Protein: ENSMUSP00000116625
Gene: ENSMUSG00000092252

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200704
Meta Mutation Damage Score 0.0877 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T A 17: 56,092,137 (GRCm39) probably benign Het
Aox1 G A 1: 58,101,366 (GRCm39) V446I probably damaging Het
Arid1b G A 17: 5,046,535 (GRCm39) G441D possibly damaging Het
Bdkrb2 A T 12: 105,558,118 (GRCm39) N120Y possibly damaging Het
Bud31 G A 5: 145,083,396 (GRCm39) V80I probably damaging Het
Camkmt T A 17: 85,738,950 (GRCm39) F225L probably damaging Het
Carf T C 1: 60,171,142 (GRCm39) M200T probably damaging Het
Carmil3 T C 14: 55,737,318 (GRCm39) L767P probably damaging Het
Cdk14 T A 5: 5,143,019 (GRCm39) R237S probably damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Cfap65 G A 1: 74,956,043 (GRCm39) R1093C possibly damaging Het
Cnot8 T A 11: 58,004,886 (GRCm39) V195E probably damaging Het
Copa T C 1: 171,945,872 (GRCm39) F936S probably damaging Het
Cstdc1 A G 2: 148,625,345 (GRCm39) N93S probably benign Het
Dnai1 T A 4: 41,629,988 (GRCm39) probably null Het
Dsel T C 1: 111,789,992 (GRCm39) N181S probably benign Het
Enpp7 A G 11: 118,879,607 (GRCm39) N87S probably damaging Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gm12695 T C 4: 96,673,312 (GRCm39) Y29C probably damaging Het
Gm5592 T A 7: 40,805,481 (GRCm39) probably benign Het
Gmnc T G 16: 26,781,702 (GRCm39) N109T probably damaging Het
Gstcd A G 3: 132,688,905 (GRCm39) I615T probably benign Het
Hal A C 10: 93,352,146 (GRCm39) K646Q probably benign Het
Hbs1l A G 10: 21,227,940 (GRCm39) I472V probably null Het
Ift27 A T 15: 78,057,958 (GRCm39) probably benign Het
Iqub A T 6: 24,503,783 (GRCm39) I163N probably damaging Het
Isg20l2 T A 3: 87,838,987 (GRCm39) V66E probably benign Het
Itgb4 T C 11: 115,870,582 (GRCm39) M137T probably damaging Het
Lca5 T A 9: 83,277,920 (GRCm39) K475* probably null Het
Lyve1 A G 7: 110,452,034 (GRCm39) probably null Het
Map3k19 T C 1: 127,766,264 (GRCm39) D220G probably damaging Het
Mdn1 T A 4: 32,699,204 (GRCm39) probably benign Het
Mmp15 T C 8: 96,094,626 (GRCm39) W167R probably damaging Het
Ms4a13 A G 19: 11,149,957 (GRCm39) C135R probably benign Het
Myh1 A G 11: 67,101,243 (GRCm39) H673R possibly damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Oas2 A G 5: 120,873,120 (GRCm39) I645T probably damaging Het
Or52s6 A T 7: 103,092,042 (GRCm39) F96Y possibly damaging Het
Pard3b T G 1: 62,250,877 (GRCm39) probably benign Het
Patj T A 4: 98,423,744 (GRCm39) probably null Het
Pcare A G 17: 72,057,155 (GRCm39) C841R probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pkd1l3 G A 8: 110,350,295 (GRCm39) S380N probably benign Het
Rab34 C A 11: 78,081,337 (GRCm39) C67* probably null Het
Rimbp3 T C 16: 17,029,644 (GRCm39) S1023P possibly damaging Het
Rnf148 T C 6: 23,654,684 (GRCm39) N104S probably benign Het
Rpa1 T C 11: 75,203,921 (GRCm39) T288A probably damaging Het
Scn9a A G 2: 66,357,340 (GRCm39) L976P probably damaging Het
Serpina12 T A 12: 104,004,104 (GRCm39) D176V probably benign Het
Sik1 C T 17: 32,073,996 (GRCm39) V10I possibly damaging Het
Sntb1 C A 15: 55,612,672 (GRCm39) R302L probably benign Het
Stambp A G 6: 83,547,321 (GRCm39) I56T probably benign Het
Tac2 A G 10: 127,565,039 (GRCm39) probably benign Het
Tecta A T 9: 42,270,714 (GRCm39) I1198K possibly damaging Het
Tfip11 C T 5: 112,481,130 (GRCm39) R369C probably benign Het
Tnpo1 A G 13: 99,021,142 (GRCm39) I79T probably damaging Het
Ttll5 A T 12: 85,980,100 (GRCm39) N895Y probably benign Het
Ube2u T A 4: 100,389,293 (GRCm39) probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r1 T C 3: 63,989,180 (GRCm39) S40P possibly damaging Het
Vmn2r100 G A 17: 19,751,792 (GRCm39) V612I probably damaging Het
Vmn2r59 G T 7: 41,696,332 (GRCm39) H137N probably benign Het
Vsig10l T C 7: 43,116,866 (GRCm39) V467A probably damaging Het
Vwde A G 6: 13,215,805 (GRCm39) probably benign Het
Xrra1 T A 7: 99,528,578 (GRCm39) D139E probably benign Het
Zc3h15 T C 2: 83,494,159 (GRCm39) probably benign Het
Zfhx4 C T 3: 5,310,716 (GRCm39) probably benign Het
Zscan18 A G 7: 12,509,413 (GRCm39) probably benign 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
R0960:Ankrd13a UTSW 5 114,924,868 (GRCm39) missense probably benign 0.03
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'- TGCAACCTCAGCTTTGCTTTCAAAC -3'
(R):5'- CCCTGGACGGCAATGTCTATTTCTC -3'

Sequencing Primer
(F):5'- GCTTTGCTTTCAAACAGACCAAG -3'
(R):5'- AGCTGTAAGACTTGCTGGAG -3'
Posted On 2013-05-23