Incidental Mutation 'R0148:Pknox1'
ID 60888
Institutional Source Beutler Lab
Gene Symbol Pknox1
Ensembl Gene ENSMUSG00000006705
Gene Name Pbx/knotted 1 homeobox
Synonyms D17Wsu76e, PREP1
MMRRC Submission 038432-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0148 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 31783708-31826667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31823764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 379 (N379K)
Ref Sequence ENSEMBL: ENSMUSP00000135804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097352] [ENSMUST00000175806] [ENSMUST00000176701]
AlphaFold O70477
Predicted Effect probably benign
Transcript: ENSMUST00000097352
AA Change: N379K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705
AA Change: N379K

DomainStartEndE-ValueType
Pfam:Meis_PKNOX_N 80 165 1.7e-39 PFAM
low complexity region 208 227 N/A INTRINSIC
low complexity region 236 252 N/A INTRINSIC
HOX 259 324 9.8e-12 SMART
low complexity region 404 415 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175806
AA Change: N379K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705
AA Change: N379K

DomainStartEndE-ValueType
low complexity region 208 227 N/A INTRINSIC
low complexity region 236 252 N/A INTRINSIC
HOX 259 324 9.8e-12 SMART
low complexity region 404 415 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176513
Predicted Effect probably benign
Transcript: ENSMUST00000176701
AA Change: N379K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705
AA Change: N379K

DomainStartEndE-ValueType
low complexity region 208 227 N/A INTRINSIC
low complexity region 236 252 N/A INTRINSIC
HOX 259 324 9.8e-12 SMART
low complexity region 404 415 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 86% (30/35)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during fetal growth and development with variable penetrance, decreased body weight, and impaired T cell development. [provided by MGI curators]
Allele List at MGI

All alleles(80) : Targeted, knock-out(1) Gene trapped(79)

Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Agtr1a T C 13: 30,565,927 (GRCm39) S331P probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Bahcc1 A T 11: 120,159,230 (GRCm39) Q152H probably damaging Het
Bend3 T A 10: 43,387,946 (GRCm39) Y780N probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Efl1 T C 7: 82,320,878 (GRCm39) S104P probably damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fbln1 G A 15: 85,115,027 (GRCm39) R193H probably damaging Het
Fbxw21 A G 9: 108,977,085 (GRCm39) probably null Het
Fgf17 C T 14: 70,876,313 (GRCm39) R49Q probably damaging Het
Flnb T C 14: 7,939,077 (GRCm38) S2307P probably benign Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Git1 A G 11: 77,396,554 (GRCm39) T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 (GRCm39) probably null Het
Gm5142 C T 14: 59,416,119 (GRCm39) R13H possibly damaging Het
Gria2 A C 3: 80,615,038 (GRCm39) W481G probably damaging Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Il4ra T A 7: 125,174,709 (GRCm39) C306S probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Lama3 G A 18: 12,581,329 (GRCm39) C596Y probably damaging Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Marchf6 C T 15: 31,490,758 (GRCm39) V293M probably damaging Het
Med12l A G 3: 58,945,075 (GRCm39) D100G probably damaging Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mrpl53 T C 6: 83,086,518 (GRCm39) L74P probably damaging Het
Mvp C T 7: 126,589,037 (GRCm39) V577M probably damaging Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nipsnap3b C T 4: 53,017,088 (GRCm39) A104V possibly damaging Het
Nlrp14 A G 7: 106,781,928 (GRCm39) Y375C probably benign Het
Nod1 A G 6: 54,915,202 (GRCm39) Y764H probably damaging Het
Or13d1 A T 4: 52,971,232 (GRCm39) I204F probably benign Het
Or2w25 G A 11: 59,504,320 (GRCm39) V177M probably damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Peg10 C A 6: 4,755,711 (GRCm39) R96S possibly damaging Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rilp A T 11: 75,401,059 (GRCm39) H29L probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Ryr1 C A 7: 28,751,460 (GRCm39) R3706L probably damaging Het
Ryr2 T C 13: 11,729,434 (GRCm39) D2396G probably damaging Het
Slc45a2 T C 15: 11,025,954 (GRCm39) S435P probably damaging Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tep1 A T 14: 51,062,246 (GRCm39) D2535E possibly damaging Het
Tkt T A 14: 30,294,177 (GRCm39) I529N probably damaging Het
Trp53i11 T G 2: 93,028,080 (GRCm39) V39G probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Usp3 A G 9: 66,447,449 (GRCm39) V219A possibly damaging Het
Usp4 T A 9: 108,268,870 (GRCm39) probably null Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Xkr6 T C 14: 64,056,998 (GRCm39) V303A unknown Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfhx2 A G 14: 55,310,354 (GRCm39) Y731H possibly damaging Het
Other mutations in Pknox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Pknox1 APN 17 31,818,619 (GRCm39) critical splice donor site probably null
IGL01830:Pknox1 APN 17 31,814,284 (GRCm39) missense probably benign 0.21
IGL02070:Pknox1 APN 17 31,822,339 (GRCm39) splice site probably benign
IGL02309:Pknox1 APN 17 31,809,683 (GRCm39) missense probably benign 0.34
IGL02707:Pknox1 APN 17 31,821,793 (GRCm39) missense possibly damaging 0.84
3-1:Pknox1 UTSW 17 31,807,436 (GRCm39) missense probably benign 0.02
R0001:Pknox1 UTSW 17 31,818,610 (GRCm39) missense probably damaging 0.98
R0147:Pknox1 UTSW 17 31,823,764 (GRCm39) missense probably benign 0.01
R0388:Pknox1 UTSW 17 31,822,166 (GRCm39) missense probably damaging 1.00
R0443:Pknox1 UTSW 17 31,811,193 (GRCm39) missense probably damaging 1.00
R0920:Pknox1 UTSW 17 31,815,865 (GRCm39) missense probably damaging 0.99
R1428:Pknox1 UTSW 17 31,811,066 (GRCm39) splice site probably benign
R1563:Pknox1 UTSW 17 31,814,256 (GRCm39) missense probably damaging 1.00
R4199:Pknox1 UTSW 17 31,821,790 (GRCm39) missense probably damaging 0.96
R4200:Pknox1 UTSW 17 31,818,584 (GRCm39) missense probably benign 0.04
R4665:Pknox1 UTSW 17 31,814,300 (GRCm39) critical splice donor site probably null
R4700:Pknox1 UTSW 17 31,822,286 (GRCm39) missense probably damaging 1.00
R4764:Pknox1 UTSW 17 31,809,687 (GRCm39) missense possibly damaging 0.92
R5127:Pknox1 UTSW 17 31,809,713 (GRCm39) missense probably benign 0.00
R6220:Pknox1 UTSW 17 31,822,177 (GRCm39) nonsense probably null
R6712:Pknox1 UTSW 17 31,814,290 (GRCm39) missense probably benign 0.23
R6865:Pknox1 UTSW 17 31,807,534 (GRCm39) missense probably damaging 0.98
R7186:Pknox1 UTSW 17 31,822,172 (GRCm39) missense probably damaging 1.00
R8746:Pknox1 UTSW 17 31,809,624 (GRCm39) missense possibly damaging 0.83
R8781:Pknox1 UTSW 17 31,821,837 (GRCm39) critical splice donor site probably benign
R8865:Pknox1 UTSW 17 31,818,520 (GRCm39) missense probably benign 0.01
R9032:Pknox1 UTSW 17 31,822,229 (GRCm39) missense possibly damaging 0.48
R9085:Pknox1 UTSW 17 31,822,229 (GRCm39) missense possibly damaging 0.48
R9265:Pknox1 UTSW 17 31,809,672 (GRCm39) missense probably damaging 1.00
R9359:Pknox1 UTSW 17 31,822,229 (GRCm39) missense possibly damaging 0.48
R9401:Pknox1 UTSW 17 31,802,752 (GRCm39) missense probably benign 0.30
R9516:Pknox1 UTSW 17 31,822,183 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACGTGATACCAATCCTGTCCTGGC -3'
(R):5'- TGCTGTGCAAACAGTGAAGAGTCC -3'

Sequencing Primer
(F):5'- CTGGCTGTGCTTTGCTCTAA -3'
(R):5'- AGTGAAGAGTCCAGCGCC -3'
Posted On 2013-07-24