Incidental Mutation 'R8205:Ankrd13d'
ID 635896
Institutional Source Beutler Lab
Gene Symbol Ankrd13d
Ensembl Gene ENSMUSG00000005986
Gene Name ankyrin repeat domain 13 family, member D
Synonyms 0710001P18Rik
MMRRC Submission 067628-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8205 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4320208-4333165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4331009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 166 (M166K)
Ref Sequence ENSEMBL: ENSMUSP00000053783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056888] [ENSMUST00000163858] [ENSMUST00000167215] [ENSMUST00000169192]
AlphaFold Q6PD24
Predicted Effect probably damaging
Transcript: ENSMUST00000056888
AA Change: M166K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
AA Change: M166K

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
ANK 72 101 9.75e1 SMART
Pfam:GPCR_chapero_1 155 469 1.2e-111 PFAM
UIM 482 501 3.2e-2 SMART
UIM 528 547 1.92e2 SMART
UIM 564 583 8.18e0 SMART
UIM 589 605 6e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163858
SMART Domains Protein: ENSMUSP00000128932
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000167215
AA Change: *151R
SMART Domains Protein: ENSMUSP00000128037
Gene: ENSMUSG00000005986
AA Change: *151R

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
ANK 72 101 9.75e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169192
AA Change: M93K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986
AA Change: M93K

DomainStartEndE-ValueType
Blast:ANK 1 28 5e-11 BLAST
Pfam:GPCR_chapero_1 82 121 6.9e-13 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000126349
Gene: ENSMUSG00000005986
AA Change: M10K

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 1 98 9.3e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,278,080 (GRCm39) V157A probably benign Het
Adamtsl1 A G 4: 86,117,650 (GRCm39) *204W probably null Het
Add2 A G 6: 86,063,899 (GRCm39) E66G probably damaging Het
Adgrd1 A G 5: 129,192,175 (GRCm39) T114A possibly damaging Het
Aldh7a1 A T 18: 56,678,070 (GRCm39) I247N probably damaging Het
Brd7 A G 8: 89,070,243 (GRCm39) F388L probably damaging Het
Cap2 G A 13: 46,768,739 (GRCm39) V182M probably damaging Het
Col22a1 A T 15: 71,732,918 (GRCm39) V1100E unknown Het
Cracdl T C 1: 37,664,047 (GRCm39) D617G probably benign Het
Crisp2 T C 17: 41,095,969 (GRCm39) E63G possibly damaging Het
Dst T G 1: 34,253,685 (GRCm39) W2304G probably damaging Het
Eif2a A C 3: 58,456,156 (GRCm39) N385T probably damaging Het
Eif4ebp2 A T 10: 61,270,704 (GRCm39) H108Q probably benign Het
Fgd3 T C 13: 49,449,823 (GRCm39) D142G probably benign Het
Gbp8 T A 5: 105,198,846 (GRCm39) H23L probably benign Het
Glt1d1 A G 5: 127,768,080 (GRCm39) E229G probably benign Het
Gpatch8 T C 11: 102,371,213 (GRCm39) D775G unknown Het
Heatr1 T C 13: 12,430,928 (GRCm39) Y1008H probably benign Het
Heatr5a T A 12: 52,005,792 (GRCm39) N61I probably benign Het
Hydin A T 8: 111,319,270 (GRCm39) H4391L possibly damaging Het
Ifi206 T C 1: 173,309,450 (GRCm39) E182G Het
Mbtps1 A G 8: 120,247,077 (GRCm39) S789P probably damaging Het
Mex3a T C 3: 88,444,159 (GRCm39) S412P possibly damaging Het
Msantd5f1 G A 4: 73,605,542 (GRCm39) V318I possibly damaging Het
Mup2 T A 4: 60,137,659 (GRCm39) D128V probably benign Het
Ndufaf7 G A 17: 79,254,461 (GRCm39) C418Y probably benign Het
Nlrp4a A G 7: 26,150,219 (GRCm39) S609G probably benign Het
Obscn T A 11: 58,898,697 (GRCm39) Y6554F unknown Het
Odf2l A G 3: 144,856,495 (GRCm39) probably benign Het
Or14j2 A T 17: 37,885,892 (GRCm39) C141S probably damaging Het
Or1o11 T C 17: 37,757,180 (GRCm39) V245A probably damaging Het
Or4c104 A T 2: 88,587,016 (GRCm39) M1K probably null Het
Plod2 G T 9: 92,424,371 (GRCm39) probably benign Het
Ptgfr A G 3: 151,541,418 (GRCm39) V30A probably benign Het
Pxdn T G 12: 30,056,566 (GRCm39) L1259R probably damaging Het
Rnf6 A G 5: 146,147,714 (GRCm39) S435P probably damaging Het
Sacm1l G A 9: 123,415,724 (GRCm39) probably null Het
Scgb2b26 T C 7: 33,643,833 (GRCm39) T36A probably benign Het
Slc1a7 A G 4: 107,865,508 (GRCm39) N332S probably benign Het
Slfn5 T C 11: 82,851,544 (GRCm39) F614L probably benign Het
Smad7 C A 18: 75,527,119 (GRCm39) Q322K probably damaging Het
Smap1 T C 1: 23,888,507 (GRCm39) T253A probably benign Het
Socs5 G T 17: 87,441,138 (GRCm39) R26L probably benign Het
Steap4 A T 5: 8,026,795 (GRCm39) I253F possibly damaging Het
Tacc1 G A 8: 25,672,803 (GRCm39) H142Y probably benign Het
Tent5c A G 3: 100,380,138 (GRCm39) F206S probably benign Het
Tmem117 G A 15: 94,992,679 (GRCm39) M446I probably benign Het
Trav7-6 G A 14: 53,954,550 (GRCm39) D47N probably benign Het
Trim2 C A 3: 84,100,646 (GRCm39) A162S probably damaging Het
Ttc28 A G 5: 111,373,596 (GRCm39) I1011V possibly damaging Het
Vmn2r98 T C 17: 19,301,425 (GRCm39) V809A probably damaging Het
Wfikkn1 T A 17: 26,097,071 (GRCm39) T418S probably benign Het
Zbtb41 T A 1: 139,356,919 (GRCm39) D391E possibly damaging Het
Zfp109 G A 7: 23,928,635 (GRCm39) S266F probably damaging Het
Other mutations in Ankrd13d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01485:Ankrd13d APN 19 4,323,592 (GRCm39) missense probably benign 0.21
IGL02480:Ankrd13d APN 19 4,321,491 (GRCm39) missense possibly damaging 0.67
R0639:Ankrd13d UTSW 19 4,323,047 (GRCm39) critical splice donor site probably null
R0673:Ankrd13d UTSW 19 4,323,047 (GRCm39) critical splice donor site probably null
R1423:Ankrd13d UTSW 19 4,331,097 (GRCm39) missense probably damaging 1.00
R1592:Ankrd13d UTSW 19 4,332,919 (GRCm39) missense probably benign 0.21
R1682:Ankrd13d UTSW 19 4,332,961 (GRCm39) missense probably damaging 1.00
R1843:Ankrd13d UTSW 19 4,321,623 (GRCm39) missense probably damaging 0.99
R2277:Ankrd13d UTSW 19 4,331,012 (GRCm39) missense probably benign 0.03
R2376:Ankrd13d UTSW 19 4,322,623 (GRCm39) missense possibly damaging 0.79
R2483:Ankrd13d UTSW 19 4,331,968 (GRCm39) missense probably damaging 0.96
R3623:Ankrd13d UTSW 19 4,331,968 (GRCm39) missense probably damaging 0.96
R4066:Ankrd13d UTSW 19 4,320,388 (GRCm39) missense probably benign 0.00
R5871:Ankrd13d UTSW 19 4,332,022 (GRCm39) missense possibly damaging 0.92
R6011:Ankrd13d UTSW 19 4,331,962 (GRCm39) missense probably damaging 1.00
R6057:Ankrd13d UTSW 19 4,332,256 (GRCm39) missense probably damaging 0.97
R6167:Ankrd13d UTSW 19 4,323,081 (GRCm39) missense probably damaging 1.00
R7747:Ankrd13d UTSW 19 4,331,013 (GRCm39) missense probably damaging 0.98
R7921:Ankrd13d UTSW 19 4,321,058 (GRCm39) missense probably damaging 0.99
R8189:Ankrd13d UTSW 19 4,320,880 (GRCm39) missense probably benign 0.08
R9376:Ankrd13d UTSW 19 4,332,250 (GRCm39) missense probably damaging 1.00
R9476:Ankrd13d UTSW 19 4,320,289 (GRCm39) missense unknown
R9591:Ankrd13d UTSW 19 4,320,250 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- CAGGAGGAGGCCATATTAGTGC -3'
(R):5'- TTGACCGCAGAGACTTGGAG -3'

Sequencing Primer
(F):5'- ATATTAGTGCCAGGTCCTACCAGTG -3'
(R):5'- CAGAGACTTGGAGTGGGCC -3'
Posted On 2020-07-13