Incidental Mutation 'R4066:Ankrd13d'
ID 316136
Institutional Source Beutler Lab
Gene Symbol Ankrd13d
Ensembl Gene ENSMUSG00000005986
Gene Name ankyrin repeat domain 13 family, member D
Synonyms 0710001P18Rik
MMRRC Submission 040973-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4066 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4320208-4333165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4320388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 118 (A118T)
Ref Sequence ENSEMBL: ENSMUSP00000130995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037992] [ENSMUST00000056888] [ENSMUST00000113852] [ENSMUST00000163858] [ENSMUST00000166031] [ENSMUST00000169192]
AlphaFold Q6PD24
Predicted Effect probably benign
Transcript: ENSMUST00000037992
SMART Domains Protein: ENSMUSP00000047718
Gene: ENSMUSG00000034616

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
Pfam:DEK_C 268 321 3.3e-18 PFAM
DSPc 325 463 7.25e-42 SMART
low complexity region 488 507 N/A INTRINSIC
low complexity region 539 551 N/A INTRINSIC
low complexity region 594 606 N/A INTRINSIC
low complexity region 612 627 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000056888
SMART Domains Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986

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: ENSMUST00000113852
SMART Domains Protein: ENSMUSP00000109483
Gene: ENSMUSG00000034616

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
Pfam:DEK_C 273 324 1.1e-15 PFAM
DSPc 329 467 7.25e-42 SMART
low complexity region 492 511 N/A INTRINSIC
low complexity region 543 555 N/A INTRINSIC
low complexity region 598 610 N/A INTRINSIC
low complexity region 616 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163858
SMART Domains Protein: ENSMUSP00000128932
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166031
SMART Domains Protein: ENSMUSP00000130505
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169192
AA Change: A118T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986
AA Change: A118T

DomainStartEndE-ValueType
Blast:ANK 1 28 5e-11 BLAST
Pfam:GPCR_chapero_1 82 121 6.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170283
SMART Domains Protein: ENSMUSP00000126349
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 1 98 9.3e-25 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 96% (50/52)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A T 1: 63,602,584 (GRCm39) H582L probably damaging Het
Arhgap30 C T 1: 171,235,891 (GRCm39) T755I probably benign Het
Cab39l A G 14: 59,784,454 (GRCm39) H285R probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Dspp T A 5: 104,325,060 (GRCm39) N474K unknown Het
Fanci T C 7: 79,062,505 (GRCm39) probably null Het
Fras1 T A 5: 96,918,542 (GRCm39) I3526K possibly damaging Het
Fut8 T A 12: 77,510,835 (GRCm39) Y421N probably damaging Het
Gm12258 C T 11: 58,749,352 (GRCm39) L176F probably benign Het
Gm8220 A T 14: 44,523,095 (GRCm39) R12* probably null Het
Hecw1 T C 13: 14,491,016 (GRCm39) S659G probably damaging Het
Hnrnpr C A 4: 136,066,657 (GRCm39) probably benign Het
Htt C T 5: 35,036,191 (GRCm39) T2046I probably benign Het
Kat7 T C 11: 95,174,967 (GRCm39) D259G possibly damaging Het
Klra9 T C 6: 130,165,707 (GRCm39) T103A probably benign Het
Lad1 A G 1: 135,755,165 (GRCm39) E147G probably damaging Het
Lipo2 T C 19: 33,698,259 (GRCm39) I373V probably benign Het
Ltb4r1 G T 14: 56,004,952 (GRCm39) W85L probably damaging Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Myl10 A G 5: 136,724,304 (GRCm39) K70E probably damaging Het
Nptx2 G T 5: 144,493,122 (GRCm39) W403L probably damaging Het
Nyap2 A G 1: 81,219,550 (GRCm39) Y524C probably damaging Het
Or4a72 T A 2: 89,405,523 (GRCm39) L182F probably damaging Het
Or6b2b A G 1: 92,418,911 (GRCm39) C189R probably damaging Het
Or8b1 T A 9: 38,399,778 (GRCm39) M151K probably benign Het
Pde9a A G 17: 31,662,812 (GRCm39) *64W probably null Het
Ppp2r5b T C 19: 6,279,360 (GRCm39) Y379C probably damaging Het
Rd3l T G 12: 111,945,945 (GRCm39) N178T probably benign Het
Recql4 A G 15: 76,590,027 (GRCm39) Y673H probably damaging Het
Rnps1-ps T A 6: 7,983,009 (GRCm39) noncoding transcript Het
Shcbp1 A G 8: 4,798,716 (GRCm39) I401T probably damaging Het
Shd A T 17: 56,278,581 (GRCm39) D48V probably damaging Het
Slc14a1 A G 18: 78,154,592 (GRCm39) W209R probably damaging Het
Slc2a9 T C 5: 38,640,692 (GRCm39) K6E probably benign Het
Slco6d1 A G 1: 98,391,571 (GRCm39) probably benign Het
Spic T C 10: 88,511,545 (GRCm39) H237R possibly damaging Het
Stau2 A G 1: 16,464,283 (GRCm39) S156P possibly damaging Het
Stmn2 T C 3: 8,574,668 (GRCm39) probably benign Het
Togaram2 C A 17: 72,023,233 (GRCm39) probably benign Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wdfy3 C T 5: 102,070,313 (GRCm39) V1152I probably benign Het
Xpo4 G T 14: 57,825,511 (GRCm39) H939N probably benign 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
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'- AGTAACCCCATCCAGTGTCC -3'
(R):5'- TACAGCTGTCCACAGAGTCC -3'

Sequencing Primer
(F):5'- GCAGGACAGCAAGCCTACTG -3'
(R):5'- AGAGTCCAGGGGTCCAGAATCTC -3'
Posted On 2015-05-15