Incidental Mutation 'R2277:Ankrd13d'
ID 242878
Institutional Source Beutler Lab
Gene Symbol Ankrd13d
Ensembl Gene ENSMUSG00000005986
Gene Name ankyrin repeat domain 13 family, member D
Synonyms 0710001P18Rik
MMRRC Submission 040276-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2277 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 4320208-4333165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4331012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 165 (H165R)
Ref Sequence ENSEMBL: ENSMUSP00000053783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056888] [ENSMUST00000163858] [ENSMUST00000167215] [ENSMUST00000169192]
AlphaFold Q6PD24
Predicted Effect probably benign
Transcript: ENSMUST00000056888
AA Change: H165R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
AA Change: H165R

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 unknown
Transcript: ENSMUST00000167215
AA Change: T150A
SMART Domains Protein: ENSMUSP00000128037
Gene: ENSMUSG00000005986
AA Change: T150A

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
ANK 72 101 9.75e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169192
AA Change: H92R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986
AA Change: H92R

DomainStartEndE-ValueType
Blast:ANK 1 28 5e-11 BLAST
Pfam:GPCR_chapero_1 82 121 6.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169653
Predicted Effect unknown
Transcript: ENSMUST00000170283
AA Change: H9R
SMART Domains Protein: ENSMUSP00000126349
Gene: ENSMUSG00000005986
AA Change: H9R

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 1 98 9.3e-25 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Atxn1 T C 13: 45,710,544 (GRCm39) N796S probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Cdh4 C A 2: 179,439,317 (GRCm39) H155N possibly damaging Het
Cela3a T C 4: 137,133,187 (GRCm39) I62V possibly damaging Het
Cr2 T C 1: 194,839,676 (GRCm39) R960G possibly damaging Het
Ddx42 T A 11: 106,133,765 (GRCm39) D580E probably damaging Het
Dnah17 T C 11: 117,987,387 (GRCm39) K1308E possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gh T C 11: 106,191,613 (GRCm39) E143G probably damaging Het
Hcn3 C A 3: 89,055,168 (GRCm39) R693L probably benign Het
Hdlbp G A 1: 93,335,900 (GRCm39) R1199* probably null Het
Hook2 C T 8: 85,729,560 (GRCm39) Q667* probably null Het
Ibtk T C 9: 85,585,204 (GRCm39) I1147V probably benign Het
Itpk1 T C 12: 102,536,519 (GRCm39) T376A probably benign Het
Lars1 C T 18: 42,368,567 (GRCm39) V425I probably benign Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Mamld1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA X: 70,162,421 (GRCm39) probably benign Het
Mpp2 T C 11: 101,955,127 (GRCm39) E166G probably damaging Het
Mrgprb5 A G 7: 47,818,579 (GRCm39) L52P probably damaging Het
Nlrp2 T C 7: 5,331,128 (GRCm39) T423A probably benign Het
Nphs1 T A 7: 30,166,989 (GRCm39) L732* probably null Het
Pcdhb10 T C 18: 37,545,677 (GRCm39) I251T possibly damaging Het
Plcg1 T A 2: 160,597,725 (GRCm39) M789K possibly damaging Het
Pom121l2 T C 13: 22,168,417 (GRCm39) I896T probably benign Het
Ptpn4 T C 1: 119,612,321 (GRCm39) D24G probably damaging Het
Rbm28 T C 6: 29,135,513 (GRCm39) probably null Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Runx1t1 T C 4: 13,771,501 (GRCm39) V15A probably benign Het
Serpina10 T A 12: 103,593,002 (GRCm39) I291F probably benign Het
Slc23a2 A G 2: 131,933,179 (GRCm39) I93T possibly damaging Het
Slc25a29 T C 12: 108,792,852 (GRCm39) E242G probably benign Het
Sulf1 A C 1: 12,867,018 (GRCm39) R67S probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tmem45a A T 16: 56,643,882 (GRCm39) L89Q probably damaging Het
Top3a A C 11: 60,636,700 (GRCm39) V655G possibly damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly 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
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
R8205:Ankrd13d UTSW 19 4,331,009 (GRCm39) missense probably damaging 1.00
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'- GGAGGAGGCCATATTAGTGC -3'
(R):5'- AGTTGACCGCAGAGACTTG -3'

Sequencing Primer
(F):5'- ATATTAGTGCCAGGTCCTACCAGTG -3'
(R):5'- TTGACCGCAGAGACTTGGAGTG -3'
Posted On 2014-10-16