Incidental Mutation 'R2015:Ankrd13a'
ID 222768
Institutional Source Beutler Lab
Gene Symbol Ankrd13a
Ensembl Gene ENSMUSG00000041870
Gene Name ankyrin repeat domain 13a
Synonyms 1100001D10Rik
MMRRC Submission 040024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R2015 (G1)
Quality Score 176
Status Not validated
Chromosome 5
Chromosomal Location 114913009-114943882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 114930170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 185 (A185E)
Ref Sequence ENSEMBL: ENSMUSP00000099638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102578]
AlphaFold Q80UP5
Predicted Effect probably damaging
Transcript: ENSMUST00000102578
AA Change: A185E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: A185E

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 unknown
Transcript: ENSMUST00000137519
AA Change: A118E
SMART Domains Protein: ENSMUSP00000116994
Gene: ENSMUSG00000041870
AA Change: A118E

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,022,672 (GRCm39) M1022K probably benign Het
Abhd4 T A 14: 54,500,289 (GRCm39) H74Q probably damaging Het
Actg1 A G 11: 120,237,636 (GRCm39) S49P possibly damaging Het
Adcy8 C T 15: 64,639,727 (GRCm39) G678S probably benign Het
Aire T C 10: 77,878,792 (GRCm39) D85G probably damaging Het
Akr1c18 T A 13: 4,195,308 (GRCm39) D50V probably damaging Het
Apc A G 18: 34,448,644 (GRCm39) I1813V probably damaging Het
Armc8 A T 9: 99,365,158 (GRCm39) C661* probably null Het
Bbs10 C T 10: 111,136,716 (GRCm39) Q610* probably null Het
Blm T C 7: 80,152,147 (GRCm39) E600G probably damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
Cdk14 T C 5: 5,430,082 (GRCm39) K15R probably benign Het
Cdr1 A G X: 60,228,420 (GRCm39) F249L probably benign Het
Cep250 A C 2: 155,823,373 (GRCm39) H1009P probably damaging Het
Cfap97d1 C A 11: 101,878,044 (GRCm39) H35Q probably damaging Het
Clasp2 A G 9: 113,740,568 (GRCm39) T495A possibly damaging Het
Col19a1 C G 1: 24,598,834 (GRCm39) G53A unknown Het
Cpne1 G A 2: 155,920,308 (GRCm39) R166C probably damaging Het
Dtx3l G A 16: 35,756,797 (GRCm39) H129Y probably benign Het
Ercc3 A G 18: 32,381,482 (GRCm39) T433A probably benign Het
Gm9936 T A 5: 114,995,482 (GRCm39) probably benign Het
Grina T C 15: 76,132,734 (GRCm39) V167A probably damaging Het
H2ac25 T A 11: 58,845,754 (GRCm39) L64Q probably damaging Het
Hcfc2 A G 10: 82,574,814 (GRCm39) N618D probably benign Het
Herpud1 T C 8: 95,118,834 (GRCm39) V196A probably benign Het
Hlcs A G 16: 94,063,599 (GRCm39) V487A probably benign Het
Hspa9 A T 18: 35,079,701 (GRCm39) Y243N probably damaging Het
Igll1 A G 16: 16,681,639 (GRCm39) S39P probably benign Het
Kdm5a T C 6: 120,408,951 (GRCm39) S1545P probably benign Het
Klra8 C A 6: 130,092,536 (GRCm39) C255F probably damaging Het
Krtap4-6 A T 11: 99,556,398 (GRCm39) C110S unknown Het
Lef1 T A 3: 130,905,236 (GRCm39) I39N probably damaging Het
Lnpep G A 17: 17,799,325 (GRCm39) T110I probably damaging Het
Lrp1 T A 10: 127,376,563 (GRCm39) T4282S probably benign Het
Lrp6 A G 6: 134,457,337 (GRCm39) probably null Het
Ly6g5b A C 17: 35,333,654 (GRCm39) S53A possibly damaging Het
M6pr T G 6: 122,290,332 (GRCm39) N98K probably damaging Het
Mal2 T C 15: 54,464,136 (GRCm39) *176Q probably null Het
Mansc1 T C 6: 134,587,274 (GRCm39) D301G possibly damaging Het
Marchf1 C A 8: 66,574,473 (GRCm39) N11K probably damaging Het
Mast3 T A 8: 71,240,007 (GRCm39) I338F probably benign Het
Mcm3 A G 1: 20,873,804 (GRCm39) L772P probably damaging Het
Mib2 C T 4: 155,742,337 (GRCm39) G176D probably damaging Het
Mier2 A T 10: 79,377,036 (GRCm39) probably null Het
Mogs C T 6: 83,094,631 (GRCm39) R483* probably null Het
Msl2 G T 9: 100,957,304 (GRCm39) probably benign Het
Naa16 A T 14: 79,582,499 (GRCm39) M530K probably damaging Het
Nde1 A T 16: 13,987,321 (GRCm39) probably benign Het
Ndufb10 T C 17: 24,941,503 (GRCm39) probably null Het
Nhsl1 A T 10: 18,387,340 (GRCm39) R205W probably damaging Het
Npffr2 T A 5: 89,730,751 (GRCm39) I227N probably damaging Het
Nup210l T A 3: 90,092,739 (GRCm39) L1231Q probably damaging Het
Or2f1 A G 6: 42,721,784 (GRCm39) E271G probably damaging Het
Or7a39 T C 10: 78,715,222 (GRCm39) I72T possibly damaging Het
Pclo C A 5: 14,571,515 (GRCm39) P300Q probably damaging Het
Pik3c2a T A 7: 115,950,166 (GRCm39) probably null Het
Plekha5 T A 6: 140,480,290 (GRCm39) probably null Het
Pls1 A G 9: 95,643,418 (GRCm39) V527A possibly damaging Het
Ppfia2 T C 10: 106,310,538 (GRCm39) M15T probably benign Het
Prkd2 T A 7: 16,581,602 (GRCm39) C152* probably null Het
Ptprq T G 10: 107,503,283 (GRCm39) K792Q probably damaging Het
Pttg1ip2 T A 5: 5,505,964 (GRCm39) I106L probably benign Het
Rbbp8 T C 18: 11,853,681 (GRCm39) M296T probably benign Het
Rfc3 T C 5: 151,571,003 (GRCm39) probably null Het
Rnf17 A G 14: 56,724,426 (GRCm39) N1090S probably benign Het
Sash1 A T 10: 8,605,177 (GRCm39) V1071D probably benign Het
Sdsl G A 5: 120,601,218 (GRCm39) T18M probably damaging Het
Sepsecs T A 5: 52,804,966 (GRCm39) Q365L probably benign Het
Sgta A T 10: 80,887,130 (GRCm39) V45E probably damaging Het
Slc25a46 A T 18: 31,742,778 (GRCm39) H29Q probably benign Het
Slc2a8 A C 2: 32,871,392 (GRCm39) V136G probably benign Het
Smg7 A T 1: 152,736,259 (GRCm39) N166K probably damaging Het
Spata21 C T 4: 140,834,640 (GRCm39) Q505* probably null Het
Strn4 T C 7: 16,566,953 (GRCm39) S458P possibly damaging Het
Tbc1d22a C T 15: 86,183,885 (GRCm39) T248M probably damaging Het
Trabd T A 15: 88,968,929 (GRCm39) M149K possibly damaging Het
Trpv3 A T 11: 73,170,653 (GRCm39) N178Y probably damaging Het
Try5 C T 6: 41,291,585 (GRCm39) probably null Het
Tsg101 C T 7: 46,558,652 (GRCm39) probably null Het
Ube3b A G 5: 114,549,210 (GRCm39) E738G probably damaging Het
Unc13d A G 11: 115,959,581 (GRCm39) S631P probably damaging Het
Unc5d T C 8: 29,249,007 (GRCm39) T297A probably damaging Het
Usp18 A T 6: 121,245,509 (GRCm39) E1V probably damaging Het
Vapb C A 2: 173,613,391 (GRCm39) P97T probably benign Het
Vmn1r33 T A 6: 66,589,356 (GRCm39) D66V probably benign Het
Vmn2r19 T A 6: 123,292,954 (GRCm39) M332K probably benign Het
Vmn2r71 T A 7: 85,269,845 (GRCm39) M452K probably benign Het
Vps13b T C 15: 35,607,288 (GRCm39) S1074P probably damaging Het
Vwde C A 6: 13,208,337 (GRCm39) G182C possibly damaging Het
Wdfy3 A C 5: 102,008,352 (GRCm39) S2778A probably null Het
Zbtb2 T A 10: 4,319,757 (GRCm39) I90F possibly damaging Het
Zfp518b C A 5: 38,829,345 (GRCm39) V887F probably benign Het
Zfp790 A G 7: 29,528,286 (GRCm39) T324A probably benign Het
Zup1 A G 10: 33,805,820 (GRCm39) V437A possibly 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
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
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'- TCTGGTGAGTCGAAGAGTGC -3'
(R):5'- GTTTATGAAAGCAGTCCCCAGAC -3'

Sequencing Primer
(F):5'- TGAGTCGAAGAGTGCTGACC -3'
(R):5'- CCTCTCAAAGGCAACGTTCTTAG -3'
Posted On 2014-08-25