Incidental Mutation 'R7936:Kank3'
ID 648774
Institutional Source Beutler Lab
Gene Symbol Kank3
Ensembl Gene ENSMUSG00000042099
Gene Name KN motif and ankyrin repeat domains 3
Synonyms D17Ertd288e, 0610013D04Rik, Ankrd47
MMRRC Submission 045982-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7936 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34029497-34041894 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34037841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 485 (S485G)
Ref Sequence ENSEMBL: ENSMUSP00000040126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048560] [ENSMUST00000087342] [ENSMUST00000166693] [ENSMUST00000172649] [ENSMUST00000173019] [ENSMUST00000173789] [ENSMUST00000173844] [ENSMUST00000173879]
AlphaFold Q9Z1P7
Predicted Effect probably benign
Transcript: ENSMUST00000048560
AA Change: S485G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: S485G

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 benign
Transcript: ENSMUST00000172649
AA Change: S297G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
AA Change: S297G

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 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 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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,900,445 (GRCm39) L438* probably null Het
Adamts18 T A 8: 114,493,760 (GRCm39) I460F probably damaging Het
Api5 C T 2: 94,268,392 (GRCm39) probably benign Het
Arap2 A G 5: 62,888,048 (GRCm39) S433P probably damaging Het
Arhgap26 T C 18: 39,338,340 (GRCm39) Y371H probably damaging Het
Asf1b T C 8: 84,695,848 (GRCm39) I163T probably benign Het
Cacna2d2 A G 9: 107,401,326 (GRCm39) N696S probably damaging Het
Carns1 A C 19: 4,216,152 (GRCm39) S677A probably benign Het
Cd276 G A 9: 58,448,113 (GRCm39) probably benign Het
Cdk8 T A 5: 146,236,644 (GRCm39) M353K possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Chsy3 A G 18: 59,542,418 (GRCm39) I519V probably damaging Het
Chtop T C 3: 90,414,658 (GRCm39) probably benign Het
Clstn3 T A 6: 124,408,972 (GRCm39) D892V possibly damaging Het
Col16a1 A T 4: 129,990,664 (GRCm39) probably null Het
Dnah5 A G 15: 28,345,983 (GRCm39) E2441G possibly damaging Het
Dpy19l2 T G 9: 24,469,454 (GRCm39) D734A probably damaging Het
Dusp2 T A 2: 127,178,812 (GRCm39) Y172* probably null Het
Efcab3 A G 11: 104,890,524 (GRCm39) N4202S possibly damaging Het
Efcab3 G A 11: 104,937,385 (GRCm39) probably null Het
Eml4 G A 17: 83,781,115 (GRCm39) R771Q possibly damaging Het
Fat2 T A 11: 55,200,993 (GRCm39) M694L probably benign Het
Fat2 C A 11: 55,201,986 (GRCm39) E363* probably null Het
Gdpgp1 A G 7: 79,888,826 (GRCm39) I286V probably damaging Het
Gps1 T A 11: 120,677,199 (GRCm39) V166E probably damaging Het
H60b T A 10: 22,162,055 (GRCm39) N93K probably benign Het
Imp4 C T 1: 34,482,114 (GRCm39) T79I probably benign Het
Kcnv2 A G 19: 27,300,167 (GRCm39) N6S probably benign Het
Krba1 A T 6: 48,388,603 (GRCm39) Q534L probably damaging Het
Lgr4 A G 2: 109,836,863 (GRCm39) N399S probably damaging Het
Lgr5 A G 10: 115,288,952 (GRCm39) V564A probably damaging Het
Lrtm2 A G 6: 119,297,394 (GRCm39) F216L probably benign Het
Lsm8 T A 6: 18,849,658 (GRCm39) M22K probably benign Het
Mboat2 C T 12: 25,005,392 (GRCm39) T389M probably damaging Het
Mcoln1 T G 8: 3,555,924 (GRCm39) I73S probably damaging Het
Myh7 T A 14: 55,216,920 (GRCm39) I1146F possibly damaging Het
Naa16 G A 14: 79,578,486 (GRCm39) T666I possibly damaging Het
Ncoa1 A G 12: 4,385,873 (GRCm39) S88P possibly damaging Het
Obscn T C 11: 58,941,334 (GRCm39) T4496A possibly damaging Het
Or13a28 T C 7: 140,217,652 (GRCm39) F13L probably damaging Het
Or7a35 T A 10: 78,853,872 (GRCm39) F239I probably damaging Het
Pdxk G T 10: 78,277,012 (GRCm39) A262D possibly damaging Het
Pebp4 T A 14: 70,089,082 (GRCm39) L68Q probably damaging Het
Pfdn5 C T 15: 102,236,978 (GRCm39) H77Y possibly damaging Het
Pld1 T C 3: 28,130,651 (GRCm39) Y484H probably damaging Het
Pou3f3 C A 1: 42,736,560 (GRCm39) N85K unknown Het
Ppm1m C A 9: 106,075,144 (GRCm39) A134S probably damaging Het
Prdm11 A T 2: 92,806,106 (GRCm39) S281R possibly damaging Het
Prdm2 C A 4: 142,862,434 (GRCm39) L285F probably damaging Het
Ptchd3 C T 11: 121,721,939 (GRCm39) R271* probably null Het
Ptprq A C 10: 107,488,572 (GRCm39) V955G probably damaging Het
Pygb A T 2: 150,657,589 (GRCm39) M351L probably benign Het
Rcl1 G A 19: 29,095,805 (GRCm39) probably null Het
Sgip1 A T 4: 102,786,097 (GRCm39) T351S possibly damaging Het
Slc22a5 T C 11: 53,760,215 (GRCm39) N367S probably damaging Het
Sox6 A G 7: 115,143,830 (GRCm39) V437A probably benign Het
Spata16 T A 3: 26,721,572 (GRCm39) M31K possibly damaging Het
Stab1 C A 14: 30,879,372 (GRCm39) V703F possibly damaging Het
Tbc1d4 C T 14: 101,703,190 (GRCm39) G752R probably damaging Het
Tent4b G A 8: 88,978,913 (GRCm39) G505R probably null Het
Tes3-ps C T 13: 49,647,460 (GRCm39) A112V probably benign Het
Tnfrsf19 T C 14: 61,208,382 (GRCm39) T380A probably benign Het
Trim75 C T 8: 65,435,190 (GRCm39) G420E probably damaging Het
Txlnb A G 10: 17,703,712 (GRCm39) D290G probably benign Het
Unc5c T A 3: 141,534,238 (GRCm39) F920I possibly damaging Het
Vmn1r233 T A 17: 21,214,237 (GRCm39) R238* probably null Het
Vmn2r113 A G 17: 23,176,917 (GRCm39) E567G probably benign Het
Vmn2r97 T A 17: 19,150,662 (GRCm39) I503K probably damaging Het
Wdr62 A G 7: 29,964,584 (GRCm39) W387R probably damaging Het
Zfp36l2 A T 17: 84,495,090 (GRCm39) D11E probably benign 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
IGL01106: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
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
Predicted Primers PCR Primer
(F):5'- TCCTTTCCATAGCAGCCACAG -3'
(R):5'- GGAAAGAGGCTATCCGCATTC -3'

Sequencing Primer
(F):5'- GACACAGGCTATTAATCCCAGTTCTG -3'
(R):5'- GCTATCCGCATTCCAAATCTTTAGAG -3'
Posted On 2020-09-15