Incidental Mutation 'R6027:Kank3'
ID480138
Institutional Source Beutler Lab
Gene Symbol Kank3
Ensembl Gene ENSMUSG00000042099
Gene NameKN motif and ankyrin repeat domains 3
Synonyms0610013D04Rik, Ankrd47, D17Ertd288e
MMRRC Submission 044199-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #R6027 (G1)
Quality Score225.009
Status Validated
Chromosome17
Chromosomal Location33810520-33822918 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 33818114 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 131 (P131S)
Ref Sequence ENSEMBL: ENSMUSP00000133760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048560] [ENSMUST00000087342] [ENSMUST00000166693] [ENSMUST00000172649] [ENSMUST00000173019] [ENSMUST00000173789] [ENSMUST00000173844] [ENSMUST00000173879]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048560
AA Change: P319S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: P319S

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 possibly damaging
Transcript: ENSMUST00000172649
AA Change: P131S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
AA Change: P131S

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
Meta Mutation Damage Score 0.1201 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,398,177 V2299A probably benign Het
Acacb A G 5: 114,165,600 D28G probably benign Het
Adamts6 G A 13: 104,479,535 G1035D probably damaging Het
Adamts7 A C 9: 90,191,025 Y755S probably damaging Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Ank2 T C 3: 126,997,879 T763A possibly damaging Het
Armc9 G C 1: 86,244,667 L105F probably damaging Het
Asah2 T C 19: 32,044,951 N228D probably benign Het
Ash1l T C 3: 88,985,019 Y1402H probably damaging Het
Aspm T G 1: 139,463,056 V693G probably damaging Het
Bptf T C 11: 107,074,945 E1141G probably damaging Het
Col12a1 C T 9: 79,656,578 probably null Het
Csmd2 G A 4: 128,559,946 D3475N unknown Het
Dctn5 T C 7: 122,133,341 probably benign Het
Dhrs4 A G 14: 55,486,123 K18E probably benign Het
Eci2 A T 13: 34,985,947 probably null Het
Efcab6 A G 15: 83,967,721 F319L probably benign Het
Elane A T 10: 79,887,018 H86L probably damaging Het
Endod1 A T 9: 14,357,597 Y197* probably null Het
Eno4 A G 19: 58,946,830 D158G probably damaging Het
Fam217a T A 13: 34,910,994 T170S possibly damaging Het
Fbxo7 A G 10: 86,048,086 D517G probably damaging Het
Fkbp3 G T 12: 65,073,918 A2E possibly damaging Het
Gan A G 8: 117,158,295 Y54C probably damaging Het
Gdap1l1 T A 2: 163,451,611 N194K possibly damaging Het
Gm15448 T C 7: 3,824,639 Y173C possibly damaging Het
Gnptab A G 10: 88,433,225 T597A probably damaging Het
Hmcn1 A G 1: 150,802,895 S492P possibly damaging Het
Hmox1 C A 8: 75,096,871 H56N probably damaging Het
Kif14 T C 1: 136,483,059 probably null Het
Kif1a A T 1: 93,025,643 M1274K probably benign Het
Kmt2a A T 9: 44,819,290 probably benign Het
Lypla1 T C 1: 4,837,076 probably null Het
Man2b1 C T 8: 85,096,752 T905I probably damaging Het
Mmp15 C A 8: 95,372,176 H544N probably benign Het
Myh7 A T 14: 54,970,802 N1933K probably benign Het
Ndst4 G T 3: 125,713,376 A730S probably benign Het
Nmur1 G A 1: 86,387,331 Q238* probably null Het
Nwd2 C T 5: 63,808,220 P1716S possibly damaging Het
Olfr1085 T G 2: 86,657,804 Y218S probably damaging Het
Olfr157 A G 4: 43,835,842 V216A probably benign Het
Olfr883 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 38,026,540 probably null Het
P2ry6 T G 7: 100,938,508 M215L probably benign Het
Parp4 G A 14: 56,629,158 E1060K probably benign Het
Pde10a A G 17: 8,964,677 I822V possibly damaging Het
Pkd1l1 C A 11: 8,916,272 G528* probably null Het
Ptk2 T A 15: 73,229,913 Q816L probably damaging Het
Ptprg T C 14: 12,220,613 F442L possibly damaging Het
Qrfpr A G 3: 36,222,038 Y68H probably benign Het
Ripk4 A G 16: 97,744,074 W458R probably damaging Het
Ros1 G T 10: 52,163,968 T309N possibly damaging Het
Rps27a T C 11: 29,547,808 probably benign Het
Sarm1 T A 11: 78,483,558 M577L probably benign Het
Scin T C 12: 40,077,516 Y425C probably damaging Het
Serpina12 T A 12: 104,031,077 Y395F probably benign Het
Sfxn2 T A 19: 46,582,852 Y69* probably null Het
Skint6 T C 4: 113,096,564 probably null Het
Slc7a1 A C 5: 148,333,964 I564S possibly damaging Het
Smc6 T A 12: 11,306,178 Y933N probably benign Het
Sp110 T C 1: 85,577,318 S438G possibly damaging Het
St8sia4 T A 1: 95,653,674 R114S probably damaging Het
Trim11 C T 11: 58,978,463 A75V possibly damaging Het
Tufm T A 7: 126,487,748 H68Q probably damaging Het
Ythdc2 T A 18: 44,860,436 D194E probably benign 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
IGL01595:Kank3 APN 17 33819180 critical splice donor site probably null
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
R7936:Kank3 UTSW 17 33818867 missense probably benign 0.01
X0066:Kank3 UTSW 17 33817271 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTCGGATCGTGGAGTGC -3'
(R):5'- AGACTGAGGCCTGGTCACTG -3'

Sequencing Primer
(F):5'- AAGGAGCGCTGCAGGTGCTCGA -3'
(R):5'- GTGGGCCTCCTCCAACTC -3'
Posted On2017-06-26