Incidental Mutation 'R4033:Ankrd63'
ID 313566
Institutional Source Beutler Lab
Gene Symbol Ankrd63
Ensembl Gene ENSMUSG00000078137
Gene Name ankyrin repeat domain 63
Synonyms Gm1337, LOC383787
MMRRC Submission 040961-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4033 (G1)
Quality Score 120
Status Validated
Chromosome 2
Chromosomal Location 118529584-118534444 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 118533412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099557] [ENSMUST00000102524] [ENSMUST00000104937] [ENSMUST00000110853]
AlphaFold A2ARS0
Predicted Effect probably benign
Transcript: ENSMUST00000099557
SMART Domains Protein: ENSMUSP00000097153
Gene: ENSMUSG00000074923

DomainStartEndE-ValueType
PBD 12 47 4.47e-11 SMART
S_TKc 408 659 2.38e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102524
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:EF-hand_like 220 311 2.5e-24 PFAM
PLCXc 312 463 2.87e-79 SMART
low complexity region 504 518 N/A INTRINSIC
PLCYc 547 663 2.39e-67 SMART
C2 684 783 9.17e-15 SMART
low complexity region 902 925 N/A INTRINSIC
low complexity region 929 940 N/A INTRINSIC
Pfam:PLC-beta_C 974 1149 4.7e-72 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000104937
AA Change: V170L
SMART Domains Protein: ENSMUSP00000100542
Gene: ENSMUSG00000078137
AA Change: V170L

DomainStartEndE-ValueType
ANK 46 79 1.87e0 SMART
ANK 83 112 3.23e-4 SMART
ANK 116 145 3.44e1 SMART
low complexity region 193 247 N/A INTRINSIC
low complexity region 331 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110853
SMART Domains Protein: ENSMUSP00000106477
Gene: ENSMUSG00000074923

DomainStartEndE-ValueType
PBD 12 47 4.47e-11 SMART
S_TKc 408 659 2.38e-89 SMART
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C G 8: 44,079,710 (GRCm39) M171I probably benign Het
Als2 G T 1: 59,235,400 (GRCm39) S761R probably benign Het
Brf1 G A 12: 112,943,352 (GRCm39) T166M probably damaging Het
Car9 T C 4: 43,508,624 (GRCm39) V131A possibly damaging Het
Cerk T G 15: 86,039,228 (GRCm39) H221P possibly damaging Het
Cfap69 A T 5: 5,654,389 (GRCm39) I458N possibly damaging Het
Chil4 T C 3: 106,121,765 (GRCm39) Y28C probably damaging Het
Cracd A G 5: 77,006,312 (GRCm39) N891S unknown Het
Dmxl1 A G 18: 49,984,498 (GRCm39) T165A possibly damaging Het
Erich6b A T 14: 75,896,207 (GRCm39) N31I probably benign Het
Fgf17 G T 14: 70,878,966 (GRCm39) probably benign Het
Fhit A T 14: 10,751,671 (GRCm38) probably benign Het
Fnip1 A T 11: 54,393,297 (GRCm39) I578L probably benign Het
Gm17641 C T 3: 68,777,146 (GRCm39) R36W probably damaging Het
Gprin2 A T 14: 33,916,635 (GRCm39) D378E probably benign Het
Grhl3 T A 4: 135,300,735 (GRCm39) M1L probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ifih1 G A 2: 62,465,534 (GRCm39) S212L probably benign Het
Iqck T C 7: 118,540,827 (GRCm39) I242T probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Lsm14b A G 2: 179,673,309 (GRCm39) K195E probably benign Het
Mical1 G A 10: 41,357,172 (GRCm39) V326I probably benign Het
Mtnr1b A T 9: 15,774,830 (GRCm39) N76K probably damaging Het
Nalcn T C 14: 123,837,401 (GRCm39) probably benign Het
Nop14 T C 5: 34,807,861 (GRCm39) D367G probably benign Het
Nrxn3 T C 12: 89,499,771 (GRCm39) C721R probably damaging Het
Or51e1 C T 7: 102,358,697 (GRCm39) T77I probably damaging Het
Prr27 G T 5: 87,991,164 (GRCm39) E259* probably null Het
Psmg3 G A 5: 139,812,086 (GRCm39) P5S probably damaging Het
Pxdn A G 12: 30,053,224 (GRCm39) T1134A probably benign Het
Rbm28 T C 6: 29,159,668 (GRCm39) N120S probably damaging Het
Reg3b A T 6: 78,350,192 (GRCm39) K157N possibly damaging Het
Rlf T G 4: 121,004,540 (GRCm39) Q1480P probably damaging Het
Slc16a12 A T 19: 34,652,567 (GRCm39) L193Q probably damaging Het
Smo G A 6: 29,759,917 (GRCm39) R672H probably damaging Het
Smyd4 A G 11: 75,240,580 (GRCm39) D25G probably benign Het
Sorbs2 C G 8: 46,228,632 (GRCm39) D264E probably damaging Het
Tctn3 G T 19: 40,585,767 (GRCm39) Q593K probably benign Het
Tdrd9 A T 12: 111,958,973 (GRCm39) I136L possibly damaging Het
Tshz3 G A 7: 36,470,009 (GRCm39) S666N possibly damaging Het
Ubn1 C T 16: 4,882,475 (GRCm39) T69M probably damaging Het
Unk A T 11: 115,944,353 (GRCm39) H368L probably benign Het
Zan A T 5: 137,436,122 (GRCm39) L2051* probably null Het
Other mutations in Ankrd63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02807:Ankrd63 APN 2 118,533,789 (GRCm39) unclassified probably benign
R0827:Ankrd63 UTSW 2 118,533,034 (GRCm39) missense possibly damaging 0.73
R2045:Ankrd63 UTSW 2 118,533,834 (GRCm39) unclassified probably benign
R2230:Ankrd63 UTSW 2 118,533,846 (GRCm39) unclassified probably benign
R2231:Ankrd63 UTSW 2 118,533,846 (GRCm39) unclassified probably benign
R2232:Ankrd63 UTSW 2 118,533,846 (GRCm39) unclassified probably benign
R4175:Ankrd63 UTSW 2 118,533,100 (GRCm39) missense probably benign 0.01
R5226:Ankrd63 UTSW 2 118,533,736 (GRCm39) unclassified probably benign
R7404:Ankrd63 UTSW 2 118,533,793 (GRCm39) missense unknown
R8318:Ankrd63 UTSW 2 118,533,721 (GRCm39) missense unknown
R8543:Ankrd63 UTSW 2 118,533,604 (GRCm39) unclassified probably benign
R8808:Ankrd63 UTSW 2 118,533,549 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TATAACGGACCGAGCCCTTG -3'
(R):5'- AAGTGCACTTGGCCCGTTTC -3'

Sequencing Primer
(F):5'- AGCAGAGGCAAGCTCGC -3'
(R):5'- AGCTCCTGGTGCAGTTCAG -3'
Posted On 2015-04-30