Incidental Mutation 'R1843:Ankrd13d'
ID207496
Institutional Source Beutler Lab
Gene Symbol Ankrd13d
Ensembl Gene ENSMUSG00000005986
Gene Nameankyrin repeat domain 13 family, member D
Synonyms
MMRRC Submission 039868-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1843 (G1)
Quality Score203
Status Not validated
Chromosome19
Chromosomal Location4270180-4283137 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4271595 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 360 (K360E)
Ref Sequence ENSEMBL: ENSMUSP00000053783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037992] [ENSMUST00000056888] [ENSMUST00000113852] [ENSMUST00000163858] [ENSMUST00000166031] [ENSMUST00000169192]
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 probably damaging
Transcript: ENSMUST00000056888
AA Change: K360E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
AA Change: K360E

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
SMART Domains Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik C T 8: 105,708,974 T88M probably damaging Het
9130011E15Rik A C 19: 45,975,252 S42R probably benign Het
9430038I01Rik A G 7: 137,377,066 probably benign Het
Adgra3 A C 5: 49,961,492 S905A probably damaging Het
Adgrv1 A G 13: 81,544,533 Y1618H probably damaging Het
Anapc15-ps T C 10: 95,673,314 T26A probably benign Het
Anks1b T A 10: 90,512,889 probably null Het
Apob T C 12: 8,007,602 F2028S possibly damaging Het
Arap3 G A 18: 37,975,583 R1265W probably damaging Het
Arhgef37 A G 18: 61,518,050 Y135H probably damaging Het
Atp1a1 T C 3: 101,582,017 T760A probably benign Het
Cdc42bpb T A 12: 111,322,821 M497L probably benign Het
Ces5a C T 8: 93,514,231 V413M probably damaging Het
Chd5 A T 4: 152,385,806 Y1903F probably damaging Het
Chd9 T A 8: 91,010,794 N1500K probably benign Het
Chmp7 G T 14: 69,719,799 D303E probably benign Het
Chrnb4 A T 9: 55,034,818 Y391N possibly damaging Het
Crtc1 T C 8: 70,388,152 T475A probably benign Het
Cyp2c69 A G 19: 39,877,528 I207T probably benign Het
Dcp1a A G 14: 30,518,983 E250G probably damaging Het
Ddx20 T C 3: 105,679,082 Q649R probably benign Het
Defb12 T A 8: 19,112,738 K59N probably damaging Het
Dpy19l3 A T 7: 35,729,760 I85N probably damaging Het
Duox2 C T 2: 122,292,258 probably null Het
E430018J23Rik A C 7: 127,391,488 D442E probably benign Het
Ebi3 T A 17: 55,956,679 Y197N probably damaging Het
Emc1 G A 4: 139,375,512 R994Q probably benign Het
Ercc6 G T 14: 32,546,820 M530I probably damaging Het
Evl T A 12: 108,652,996 D70E probably damaging Het
Fam35a A G 14: 34,267,803 I382T probably benign Het
Fbln2 A G 6: 91,265,775 N819S probably damaging Het
Foxk2 A G 11: 121,285,537 I170V probably benign Het
Gfm1 T C 3: 67,435,610 V159A probably damaging Het
Gm10837 A G 14: 122,490,765 T18A unknown Het
Gm12887 A T 4: 121,622,030 V25E probably damaging Het
Hectd4 A G 5: 121,297,180 H985R possibly damaging Het
Hsfy2 A G 1: 56,636,632 Y249H possibly damaging Het
Hspg2 T C 4: 137,545,567 V2639A probably damaging Het
Igf2r A G 17: 12,704,270 probably null Het
Invs T A 4: 48,422,035 I889N probably damaging Het
Kcnq1 A T 7: 143,183,120 M209L probably benign Het
Klra7 A G 6: 130,229,994 I48T possibly damaging Het
Krt26 CTAGTA CTA 11: 99,333,526 probably benign Het
Lrif1 T A 3: 106,732,811 V404D probably damaging Het
Lrriq1 T A 10: 103,227,173 probably null Het
Lypd6 T A 2: 50,188,762 I90N possibly damaging Het
Mbp A G 18: 82,584,122 D174G probably damaging Het
Megf9 G T 4: 70,534,785 P13Q probably damaging Het
Myo15b A T 11: 115,869,586 T1155S probably benign Het
Nlrp6 T A 7: 140,923,093 C371S probably damaging Het
Nosip T A 7: 45,077,309 probably null Het
Nox3 G T 17: 3,669,878 P344H probably damaging Het
Nup210l T C 3: 90,172,086 V959A probably damaging Het
Olfr1360 C A 13: 21,674,672 V91L probably benign Het
Olfr1475 A G 19: 13,479,931 I89T probably benign Het
Olfr175-ps1 T A 16: 58,824,077 I211F probably damaging Het
Olfr267 T C 4: 58,785,384 I113V probably benign Het
Olfr959 A G 9: 39,572,735 Y175H possibly damaging Het
Osbpl3 A C 6: 50,370,143 S25A probably damaging Het
Otog G A 7: 46,246,283 C107Y probably damaging Het
Pax7 G A 4: 139,784,491 R260C probably damaging Het
Pbrm1 A T 14: 31,038,957 I224F probably damaging Het
Pcdh1 T A 18: 38,192,225 probably null Het
Pcnx T C 12: 81,980,935 L1585P probably damaging Het
Pde4c C T 8: 70,747,950 H362Y probably damaging Het
Pdlim2 C T 14: 70,164,779 R296H probably damaging Het
Pgm2 A T 4: 99,961,478 Q90L probably damaging Het
Phlpp1 A G 1: 106,343,505 H814R probably benign Het
Pknox2 A T 9: 36,954,831 M5K possibly damaging Het
Pole G A 5: 110,330,835 probably null Het
Polr1b A G 2: 129,102,966 I61V probably benign Het
Prelp T C 1: 133,914,757 K217E probably damaging Het
Prkce C T 17: 86,475,546 Q202* probably null Het
Psmd2 T G 16: 20,656,582 M370R probably benign Het
Rimklb A T 6: 122,464,009 H68Q probably damaging Het
Rnasel A G 1: 153,754,674 D312G possibly damaging Het
Rxrg A T 1: 167,598,752 M1L probably benign Het
Scrn1 A G 6: 54,522,841 F220L possibly damaging Het
Scyl3 A G 1: 163,950,675 S461G probably benign Het
Serpina1c T A 12: 103,895,023 T411S probably benign Het
Serpinb6d C T 13: 33,671,381 P346L probably benign Het
Slc9a3r2 C T 17: 24,641,719 S150N possibly damaging Het
Spg21 G T 9: 65,465,336 V17F probably damaging Het
Spink5 A T 18: 43,999,891 M525L probably benign Het
Sun2 T C 15: 79,737,563 T155A probably benign Het
Tchh T A 3: 93,446,780 F1176I unknown Het
Tex15 T A 8: 33,576,654 D2037E probably benign Het
Tfdp2 T C 9: 96,317,804 C392R possibly damaging Het
Tmem30c T C 16: 57,276,780 N139S probably benign Het
Tns2 C T 15: 102,113,133 probably null Het
Trim66 T C 7: 109,475,839 E405G probably damaging Het
Trpc4 T A 3: 54,279,994 F456I probably benign Het
Tspo2 T C 17: 48,448,790 D108G possibly damaging Het
Tyk2 A T 9: 21,121,554 C304* probably null Het
Vgll4 A T 6: 114,862,795 S185T probably benign Het
Vmn2r94 A C 17: 18,244,470 S519R probably benign Het
Vmn2r96 T G 17: 18,597,921 S587A probably benign Het
Vps4b C A 1: 106,778,982 A287S possibly damaging Het
Yeats2 C T 16: 20,229,564 P1332S probably benign Het
Zfp462 T G 4: 55,010,010 S659A possibly damaging Het
Zfp507 C T 7: 35,793,725 R631Q probably damaging Het
Zswim5 G T 4: 116,877,699 E80D unknown Het
Other mutations in Ankrd13d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01485:Ankrd13d APN 19 4273564 missense probably benign 0.21
IGL02480:Ankrd13d APN 19 4271463 missense possibly damaging 0.67
R0639:Ankrd13d UTSW 19 4273019 critical splice donor site probably null
R0673:Ankrd13d UTSW 19 4273019 critical splice donor site probably null
R1423:Ankrd13d UTSW 19 4281069 missense probably damaging 1.00
R1592:Ankrd13d UTSW 19 4282891 missense probably benign 0.21
R1682:Ankrd13d UTSW 19 4282933 missense probably damaging 1.00
R2277:Ankrd13d UTSW 19 4280984 missense probably benign 0.03
R2376:Ankrd13d UTSW 19 4272595 missense possibly damaging 0.79
R2483:Ankrd13d UTSW 19 4281940 missense probably damaging 0.96
R3623:Ankrd13d UTSW 19 4281940 missense probably damaging 0.96
R4066:Ankrd13d UTSW 19 4270360 missense probably benign 0.00
R5871:Ankrd13d UTSW 19 4281994 missense possibly damaging 0.92
R6011:Ankrd13d UTSW 19 4281934 missense probably damaging 1.00
R6057:Ankrd13d UTSW 19 4282228 missense probably damaging 0.97
R6167:Ankrd13d UTSW 19 4273053 missense probably damaging 1.00
R7747:Ankrd13d UTSW 19 4280985 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATCATGCCCAAGTCCTGGTTAC -3'
(R):5'- ATCATCAGCACCAGGACAGG -3'

Sequencing Primer
(F):5'- AAGTCCTGGTTACCCCCTTG -3'
(R):5'- GCTTTCCAGCCAGTGAGTC -3'
Posted On2014-06-23