Incidental Mutation 'IGL01106:Kank3'
ID 278179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kank3
Ensembl Gene ENSMUSG00000042099
Gene Name KN motif and ankyrin repeat domains 3
Synonyms D17Ertd288e, 0610013D04Rik, Ankrd47
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01106
Quality Score
Status
Chromosome 17
Chromosomal Location 34029497-34041894 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34036375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 81 (G81E)
Ref Sequence ENSEMBL: ENSMUSP00000040126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048560] [ENSMUST00000172649] [ENSMUST00000173019] [ENSMUST00000173789]
AlphaFold Q9Z1P7
Predicted Effect probably damaging
Transcript: ENSMUST00000048560
AA Change: G81E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: G81E

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: 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: 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 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg13 T C 2: 91,526,297 (GRCm39) D12G probably damaging Het
Cmya5 A G 13: 93,221,120 (GRCm39) L3163P probably damaging Het
Cntn2 A G 1: 132,449,622 (GRCm39) probably benign Het
Ddx23 C T 15: 98,548,821 (GRCm39) R327Q probably benign Het
Dlec1 G A 9: 118,931,853 (GRCm39) E91K probably benign Het
Fam13c T C 10: 70,284,646 (GRCm39) probably null Het
Fbn1 T C 2: 125,193,626 (GRCm39) T1398A possibly damaging Het
Frem1 T C 4: 82,840,494 (GRCm39) T1793A probably benign Het
Gprc5b T C 7: 118,583,084 (GRCm39) K262E probably benign Het
Hadh A T 3: 131,034,619 (GRCm39) Y226N possibly damaging Het
Herc1 T A 9: 66,383,720 (GRCm39) probably benign Het
Ikbke A G 1: 131,187,792 (GRCm39) probably benign Het
Iqcg T A 16: 32,855,970 (GRCm39) I202L possibly damaging Het
Kcna3 A G 3: 106,945,180 (GRCm39) E481G possibly damaging Het
Kdm1a A G 4: 136,299,639 (GRCm39) probably benign Het
Klhdc8a A T 1: 132,232,438 (GRCm39) S321C probably benign Het
Kntc1 A G 5: 123,900,666 (GRCm39) K255E probably benign Het
Lhfpl4 T A 6: 113,170,824 (GRCm39) T121S probably benign Het
Lsm11 G A 11: 45,824,490 (GRCm39) Q346* probably null Het
Mcoln3 A G 3: 145,843,019 (GRCm39) T368A probably benign Het
Nlrp4g A T 9: 124,350,452 (GRCm38) noncoding transcript Het
Nol8 A G 13: 49,807,957 (GRCm39) I58V possibly damaging Het
Or5al6 C T 2: 85,976,560 (GRCm39) V173M probably benign Het
Phactr4 A G 4: 132,098,116 (GRCm39) F384S probably benign Het
Prkg1 T A 19: 30,562,678 (GRCm39) I509L probably benign Het
Rims1 T A 1: 22,449,671 (GRCm39) D1019V probably damaging Het
Sclt1 T C 3: 41,629,754 (GRCm39) probably benign Het
Sntg2 T A 12: 30,307,987 (GRCm39) K233* probably null Het
Syt5 T C 7: 4,544,156 (GRCm39) T295A probably damaging Het
Other mutations in Kank3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Kank3 APN 17 34,040,791 (GRCm39) missense probably damaging 1.00
IGL01105:Kank3 APN 17 34,036,375 (GRCm39) missense probably damaging 1.00
IGL01139:Kank3 APN 17 34,036,375 (GRCm39) missense probably damaging 1.00
IGL01595:Kank3 APN 17 34,038,154 (GRCm39) critical splice donor site probably null
IGL02129:Kank3 APN 17 34,036,465 (GRCm39) missense probably benign
IGL02364:Kank3 APN 17 34,037,824 (GRCm39) missense probably benign
IGL02540:Kank3 APN 17 34,038,161 (GRCm39) unclassified probably benign
R0940:Kank3 UTSW 17 34,036,450 (GRCm39) missense probably damaging 1.00
R1387:Kank3 UTSW 17 34,035,205 (GRCm39) missense possibly damaging 0.90
R1663:Kank3 UTSW 17 34,037,349 (GRCm39) missense probably benign 0.00
R1738:Kank3 UTSW 17 34,036,168 (GRCm39) missense probably damaging 1.00
R1752:Kank3 UTSW 17 34,038,791 (GRCm39) missense probably damaging 1.00
R4194:Kank3 UTSW 17 34,041,237 (GRCm39) intron probably benign
R4921:Kank3 UTSW 17 34,036,174 (GRCm39) missense probably damaging 1.00
R5001:Kank3 UTSW 17 34,040,746 (GRCm39) missense possibly damaging 0.51
R5011:Kank3 UTSW 17 34,041,044 (GRCm39) missense probably damaging 1.00
R5111:Kank3 UTSW 17 34,037,155 (GRCm39) missense possibly damaging 0.82
R5147:Kank3 UTSW 17 34,041,176 (GRCm39) missense probably damaging 1.00
R5282:Kank3 UTSW 17 34,036,917 (GRCm39) missense probably benign 0.00
R5752:Kank3 UTSW 17 34,037,037 (GRCm39) missense probably benign
R5943:Kank3 UTSW 17 34,037,375 (GRCm39) missense probably damaging 1.00
R6027:Kank3 UTSW 17 34,037,088 (GRCm39) missense possibly damaging 0.71
R7936:Kank3 UTSW 17 34,037,841 (GRCm39) missense probably benign 0.01
R8837:Kank3 UTSW 17 34,036,627 (GRCm39) missense probably damaging 0.98
R9170:Kank3 UTSW 17 34,037,242 (GRCm39) missense probably damaging 1.00
X0066:Kank3 UTSW 17 34,036,245 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16