Incidental Mutation 'IGL01595:Kank3'
ID93402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kank3
Ensembl Gene ENSMUSG00000042099
Gene NameKN motif and ankyrin repeat domains 3
Synonyms0610013D04Rik, Ankrd47, D17Ertd288e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL01595
Quality Score
Status
Chromosome17
Chromosomal Location33810520-33822918 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 33819180 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048560] [ENSMUST00000087342] [ENSMUST00000166693] [ENSMUST00000172649] [ENSMUST00000173019] [ENSMUST00000173789] [ENSMUST00000173844] [ENSMUST00000173879]
Predicted Effect probably null
Transcript: ENSMUST00000048560
SMART Domains Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
Pfam:KN_motif 32 73 9.1e-24 PFAM
low complexity region 105 125 N/A INTRINSIC
low complexity region 138 150 N/A INTRINSIC
coiled coil region 180 229 N/A INTRINSIC
low complexity region 317 362 N/A INTRINSIC
low complexity region 369 385 N/A INTRINSIC
low complexity region 460 478 N/A INTRINSIC
low complexity region 485 498 N/A INTRINSIC
ANK 606 636 3.46e-4 SMART
ANK 640 674 2.88e2 SMART
ANK 679 708 5.41e-6 SMART
ANK 712 742 2.73e-2 SMART
Blast:ANK 746 775 4e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000087342
SMART Domains Protein: ENSMUSP00000110013
Gene: ENSMUSG00000067288

DomainStartEndE-ValueType
Pfam:Ribosomal_S28e 1 69 3.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166693
SMART Domains Protein: ENSMUSP00000133642
Gene: ENSMUSG00000067288

DomainStartEndE-ValueType
Pfam:Ribosomal_S28e 1 69 3.6e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000172649
SMART Domains Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099

DomainStartEndE-ValueType
coiled coil region 8 41 N/A INTRINSIC
low complexity region 129 174 N/A INTRINSIC
low complexity region 181 197 N/A INTRINSIC
low complexity region 272 290 N/A INTRINSIC
low complexity region 297 310 N/A INTRINSIC
ANK 418 448 3.46e-4 SMART
ANK 452 486 2.88e2 SMART
ANK 491 520 5.41e-6 SMART
ANK 524 554 2.73e-2 SMART
Blast:ANK 558 587 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173019
SMART Domains Protein: ENSMUSP00000134615
Gene: ENSMUSG00000067288

DomainStartEndE-ValueType
Pfam:Ribosomal_S28e 1 69 3.6e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173649
Predicted Effect probably benign
Transcript: ENSMUST00000173789
SMART Domains Protein: ENSMUSP00000133625
Gene: ENSMUSG00000042099

DomainStartEndE-ValueType
ANK 22 56 2.88e2 SMART
ANK 61 90 5.41e-6 SMART
ANK 94 124 2.73e-2 SMART
Blast:ANK 128 157 7e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173844
SMART Domains Protein: ENSMUSP00000133357
Gene: ENSMUSG00000067288

DomainStartEndE-ValueType
Pfam:Ribosomal_S28e 1 69 3.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173879
SMART Domains Protein: ENSMUSP00000134240
Gene: ENSMUSG00000067288

DomainStartEndE-ValueType
Pfam:Ribosomal_S28e 1 56 2.5e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173958
Predicted Effect probably benign
Transcript: ENSMUST00000174608
SMART Domains Protein: ENSMUSP00000134656
Gene: ENSMUSG00000042099

DomainStartEndE-ValueType
SCOP:d1bd8__ 2 47 9e-5 SMART
PDB:4HBD|A 8 48 1e-6 PDB
Blast:ANK 23 52 3e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174788
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 23,078,169 M111V probably damaging Het
Adamts14 A T 10: 61,205,473 H819Q probably damaging Het
Adamts7 T A 9: 90,193,306 N1072K probably benign Het
Ahnak T A 19: 9,003,501 Y716* probably null Het
Arfgef3 T C 10: 18,594,912 K1702E possibly damaging Het
BB014433 C A 8: 15,042,499 probably null Het
Bdnf A T 2: 109,723,928 K176* probably null Het
C2cd5 C T 6: 143,018,022 R879H probably damaging Het
Capn11 T A 17: 45,639,434 H327L probably benign Het
Ccdc68 A G 18: 69,956,046 N220S probably benign Het
Cftr T C 6: 18,198,239 probably benign Het
Clca2 G A 3: 145,088,007 L296F probably damaging Het
Cubn A T 2: 13,325,216 L2618Q probably benign Het
Gfi1b A G 2: 28,611,417 probably null Het
Gpr37 G T 6: 25,669,573 T424N probably damaging Het
Kcnh5 T C 12: 74,898,327 Q716R probably benign Het
Kntc1 G A 5: 123,803,695 M1817I probably benign Het
Krt79 T G 15: 101,931,771 E330A probably damaging Het
Mapk15 C A 15: 75,995,280 P82Q probably benign Het
Myh15 A T 16: 49,172,949 D1649V probably damaging Het
Myo1d T C 11: 80,676,110 I326V probably benign Het
Nek9 A T 12: 85,314,420 W504R probably damaging Het
Nlrp4c T A 7: 6,066,112 C337* probably null Het
Nup160 A G 2: 90,729,737 N1269D probably damaging Het
Olfr250 T C 9: 38,368,050 V168A probably benign Het
Olfr594 A G 7: 103,220,351 D211G probably damaging Het
Olfr661 T C 7: 104,688,078 M21T possibly damaging Het
Pde6a A G 18: 61,281,528 M36V probably damaging Het
Perp A G 10: 18,855,659 Q122R probably damaging Het
S100a7a T C 3: 90,657,800 Y101H probably benign Het
Sbk2 C A 7: 4,957,713 V153L possibly damaging Het
Serpinb7 A T 1: 107,428,322 N25I probably damaging Het
Tbx5 A T 5: 119,840,838 D105V probably damaging Het
Trip6 T A 5: 137,313,413 T101S probably benign Het
Ush2a T A 1: 188,654,724 probably null Het
Other mutations in Kank3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Kank3 APN 17 33821817 missense probably damaging 1.00
IGL01105:Kank3 APN 17 33817401 missense probably damaging 1.00
IGL01106:Kank3 APN 17 33817401 missense probably damaging 1.00
IGL01139:Kank3 APN 17 33817401 missense probably damaging 1.00
IGL02129:Kank3 APN 17 33817491 missense probably benign
IGL02364:Kank3 APN 17 33818850 missense probably benign
IGL02540:Kank3 APN 17 33819187 unclassified probably benign
R0940:Kank3 UTSW 17 33817476 missense probably damaging 1.00
R1387:Kank3 UTSW 17 33816231 missense possibly damaging 0.90
R1663:Kank3 UTSW 17 33818375 missense probably benign 0.00
R1738:Kank3 UTSW 17 33817194 missense probably damaging 1.00
R1752:Kank3 UTSW 17 33819817 missense probably damaging 1.00
R4194:Kank3 UTSW 17 33822263 intron probably benign
R4921:Kank3 UTSW 17 33817200 missense probably damaging 1.00
R5001:Kank3 UTSW 17 33821772 missense possibly damaging 0.51
R5011:Kank3 UTSW 17 33822070 missense probably damaging 1.00
R5111:Kank3 UTSW 17 33818181 missense possibly damaging 0.82
R5147:Kank3 UTSW 17 33822202 missense probably damaging 1.00
R5282:Kank3 UTSW 17 33817943 missense probably benign 0.00
R5752:Kank3 UTSW 17 33818063 missense probably benign
R5943:Kank3 UTSW 17 33818401 missense probably damaging 1.00
R6027:Kank3 UTSW 17 33818114 missense possibly damaging 0.71
X0066:Kank3 UTSW 17 33817271 missense probably damaging 1.00
Posted On2013-12-09