Incidental Mutation 'R0147:Pknox1'
ID 60843
Institutional Source Beutler Lab
Gene Symbol Pknox1
Ensembl Gene ENSMUSG00000006705
Gene Name Pbx/knotted 1 homeobox
Synonyms D17Wsu76e, PREP1
MMRRC Submission 038431-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0147 (G1)
Quality Score 152
Status 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: 98.9%
  • 3x: 98.0%
  • 10x: 94.5%
  • 20x: 86.1%
Validation Efficiency 67% (88/131)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Abtb2 A G 2: 103,397,480 (GRCm39) I137V probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Arl6 T C 16: 59,439,153 (GRCm39) probably benign Het
Avl9 T A 6: 56,713,487 (GRCm39) D248E probably benign Het
Becn1 T C 11: 101,192,562 (GRCm39) E40G probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Btbd16 C T 7: 130,381,324 (GRCm39) T19I probably damaging Het
Casc3 T A 11: 98,713,325 (GRCm39) N246K possibly damaging Het
Celf1 G T 2: 90,835,035 (GRCm39) probably benign Het
Chrm3 G T 13: 9,928,780 (GRCm39) N85K probably damaging Het
Cluh T A 11: 74,556,764 (GRCm39) Y935N probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a5 T C 9: 105,802,993 (GRCm39) D1324G unknown Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
D630003M21Rik C T 2: 158,044,987 (GRCm39) probably benign Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dnmt3b T G 2: 153,503,377 (GRCm39) N9K 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
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
Fam98c T A 7: 28,852,146 (GRCm39) R340* probably null Het
Fbxw10 T G 11: 62,738,307 (GRCm39) probably null 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
Gm28042 T A 2: 119,866,944 (GRCm39) S196T probably benign Het
Grid2 T C 6: 64,510,571 (GRCm39) Y734H probably benign Het
Grm6 T A 11: 50,750,144 (GRCm39) I466N possibly damaging Het
Hectd3 T C 4: 116,854,237 (GRCm39) 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
Ip6k1 T A 9: 107,923,093 (GRCm39) D408E probably damaging Het
Irs2 A T 8: 11,057,568 (GRCm39) M288K probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Knop1 C A 7: 118,445,061 (GRCm39) R301L probably benign Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign 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
Mprip T A 11: 59,627,899 (GRCm39) D93E possibly damaging Het
Mtmr14 T A 6: 113,237,627 (GRCm39) probably benign Het
Muc5ac T C 7: 141,364,776 (GRCm39) S1917P probably benign Het
Muc6 C T 7: 141,238,255 (GRCm39) C75Y probably damaging Het
Naip1 A T 13: 100,563,418 (GRCm39) H582Q possibly damaging Het
Nbeal2 G A 9: 110,471,211 (GRCm39) R264* probably null 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
Nsmce2 T G 15: 59,250,806 (GRCm39) S26A probably damaging Het
Or52s19 T C 7: 103,007,613 (GRCm39) T263A possibly damaging Het
Or5m13b T A 2: 85,754,362 (GRCm39) I250N possibly damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pax1 A G 2: 147,215,654 (GRCm39) S424G probably benign 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
Plxna1 C T 6: 89,297,692 (GRCm39) A1831T possibly damaging Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Pygo2 T C 3: 89,340,610 (GRCm39) V299A 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
Rmc1 C T 18: 12,322,328 (GRCm39) R594C probably damaging Het
Rnf13 A G 3: 57,709,889 (GRCm39) D144G 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
Sec23ip C T 7: 128,380,775 (GRCm39) probably benign Het
Slc25a26 T A 6: 94,569,507 (GRCm39) probably null Het
Slc6a7 A G 18: 61,135,183 (GRCm39) probably benign Het
Slco6b1 A T 1: 96,915,562 (GRCm39) noncoding transcript Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Spata22 T A 11: 73,221,979 (GRCm39) M1K probably null 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
Tasor A G 14: 27,193,725 (GRCm39) D975G probably benign Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tm9sf4 G T 2: 153,037,233 (GRCm39) V365L probably benign Het
Tmc3 T C 7: 83,256,950 (GRCm39) V401A probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Unc5b A T 10: 60,608,076 (GRCm39) S675T probably damaging Het
Vmn1r217 A G 13: 23,298,107 (GRCm39) M265T probably benign Het
Vps54 T A 11: 21,250,259 (GRCm39) D548E probably benign 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
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfp710 T A 7: 79,731,721 (GRCm39) C299* probably null 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
R0148: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