Incidental Mutation 'R6011:Ankrd13d'
ID 479779
Institutional Source Beutler Lab
Gene Symbol Ankrd13d
Ensembl Gene ENSMUSG00000005986
Gene Name ankyrin repeat domain 13 family, member D
Synonyms 0710001P18Rik
MMRRC Submission 043253-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6011 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 4320208-4333165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4331962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 39 (L39P)
Ref Sequence ENSEMBL: ENSMUSP00000130995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025791] [ENSMUST00000056888] [ENSMUST00000088737] [ENSMUST00000113837] [ENSMUST00000163858] [ENSMUST00000167215] [ENSMUST00000169192] [ENSMUST00000171123]
AlphaFold Q6PD24
Predicted Effect probably benign
Transcript: ENSMUST00000025791
SMART Domains Protein: ENSMUSP00000025791
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
RGS 12 133 3.17e-30 SMART
S_TKc 149 411 2.43e-86 SMART
S_TK_X 412 491 5.3e-9 SMART
PH 517 612 2.79e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000056888
AA Change: L112P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
AA Change: L112P

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: ENSMUST00000088737
SMART Domains Protein: ENSMUSP00000086114
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 SMART
S_TKc 191 453 2.43e-86 SMART
S_TK_X 454 533 5.3e-9 SMART
PH 559 654 2.79e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113837
SMART Domains Protein: ENSMUSP00000109468
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 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 damaging
Transcript: ENSMUST00000167215
AA Change: L112P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128037
Gene: ENSMUSG00000005986
AA Change: L112P

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
ANK 72 101 9.75e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169192
AA Change: L39P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986
AA Change: L39P

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 probably benign
Transcript: ENSMUST00000171123
SMART Domains Protein: ENSMUSP00000126930
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 SMART
Pfam:Pkinase_Tyr 191 378 1.1e-21 PFAM
Pfam:Pkinase 191 381 4.9e-50 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,136,570 (GRCm39) N533K probably benign Het
Adamts15 G T 9: 30,814,082 (GRCm39) H694Q probably damaging Het
Adcy5 T C 16: 34,977,598 (GRCm39) L377P probably benign Het
Add2 T C 6: 86,075,607 (GRCm39) L252P probably damaging Het
Amer1 ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC X: 94,470,889 (GRCm39) probably benign Het
Asic1 G T 15: 99,596,960 (GRCm39) A541S probably benign Het
Bhmt1b A G 18: 87,774,663 (GRCm39) E62G probably damaging Het
Bpifb2 A G 2: 153,731,496 (GRCm39) probably null Het
Catsper3 A G 13: 55,934,305 (GRCm39) I75M probably damaging Het
Ccser2 T C 14: 36,601,532 (GRCm39) E837G probably benign Het
Clasp2 C T 9: 113,705,315 (GRCm39) P557L probably benign Het
Clstn2 C T 9: 97,338,579 (GRCm39) R860Q probably benign Het
Cplx3 A T 9: 57,523,038 (GRCm39) D140E probably damaging Het
Cyp2c66 A G 19: 39,130,380 (GRCm39) K72E probably benign Het
Cyp3a44 A G 5: 145,738,084 (GRCm39) probably null Het
Disp2 G A 2: 118,621,301 (GRCm39) V678I possibly damaging Het
Dock4 T C 12: 40,867,756 (GRCm39) probably null Het
Eml3 T C 19: 8,916,471 (GRCm39) Y688H probably damaging Het
Fam187a A G 11: 102,776,267 (GRCm39) K24E probably damaging Het
Fhit T C 14: 9,870,068 (GRCm38) K134E probably benign Het
Foxl3 A G 5: 138,807,374 (GRCm39) *217W probably null Het
Gm16485 A T 9: 8,972,454 (GRCm39) probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Hmgxb3 G A 18: 61,296,096 (GRCm39) T304I probably damaging Het
Lgsn A G 1: 31,242,847 (GRCm39) S310G probably damaging Het
Muc21 T A 17: 35,933,074 (GRCm39) probably benign Het
Niban2 T C 2: 32,812,877 (GRCm39) Y482H probably damaging Het
Or12e13 A G 2: 87,664,259 (GRCm39) N292S probably damaging Het
Or4k42 C A 2: 111,320,192 (GRCm39) A104S probably benign Het
Or6c8b A T 10: 128,882,508 (GRCm39) H141Q probably benign Het
Or7g25 T A 9: 19,159,807 (GRCm39) E296V probably damaging Het
Or9i1b G A 19: 13,896,521 (GRCm39) V46I probably benign Het
Pelo A G 13: 115,226,302 (GRCm39) S52P probably benign Het
Prune2 A G 19: 17,096,080 (GRCm39) N528S probably benign Het
Rfc3 T A 5: 151,567,184 (GRCm39) I291L probably damaging Het
Rpl35 A T 2: 38,894,813 (GRCm39) probably null Het
Sectm1b C T 11: 120,946,704 (GRCm39) V64I possibly damaging Het
Serpina12 A G 12: 104,001,993 (GRCm39) M241T probably damaging Het
Serpina1a T A 12: 103,823,728 (GRCm39) D195V probably damaging Het
Sesn2 C T 4: 132,226,708 (GRCm39) V129M probably damaging Het
Slc4a1 A C 11: 102,243,357 (GRCm39) V758G probably damaging Het
Tmx4 A T 2: 134,481,756 (GRCm39) Y56N probably damaging Het
Traj50 T C 14: 54,405,091 (GRCm39) probably benign Het
Trio T G 15: 27,735,631 (GRCm39) K2820Q probably damaging Het
Ttc28 G A 5: 111,434,309 (GRCm39) G2417S probably benign Het
Usp32 T C 11: 84,922,923 (GRCm39) D665G 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
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
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'- GACCCAGTCTCATCTGCATG -3'
(R):5'- GAGACTAGCTTCCAGGTTGGTG -3'

Sequencing Primer
(F):5'- ATGGGCCTGGGATCCCATATTTC -3'
(R):5'- ACTAGCTTCCAGGTTGGTGAATGG -3'
Posted On 2017-06-26