Incidental Mutation 'R1428:Pknox1'
ID 161418
Institutional Source Beutler Lab
Gene Symbol Pknox1
Ensembl Gene ENSMUSG00000006705
Gene Name Pbx/knotted 1 homeobox
Synonyms D17Wsu76e, PREP1
MMRRC Submission 039484-MU
Accession Numbers

Genbank: NM_016670; MGI: 1201409
Essential gene? Essential (E-score: 1.000) question?
Stock # R1428 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 31564749-31607684 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 31592092 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097352] [ENSMUST00000175806] [ENSMUST00000176701]
AlphaFold O70477
Predicted Effect probably benign
Transcript: ENSMUST00000097352
SMART Domains Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705

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 noncoding transcript
Transcript: ENSMUST00000175709
Predicted Effect probably benign
Transcript: ENSMUST00000175806
SMART Domains Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705

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: ENSMUST00000175812
Predicted Effect probably benign
Transcript: ENSMUST00000176701
SMART Domains Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705

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: ENSMUST00000176895
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.2%
Validation Efficiency 98% (56/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,952,411 I249M possibly damaging Het
2410089E03Rik T A 15: 8,219,369 Y1801N possibly damaging Het
Abl1 G T 2: 31,801,810 A1114S probably damaging Het
Acbd5 T C 2: 23,099,721 V452A probably damaging Het
Armc12 A G 17: 28,537,936 D225G probably damaging Het
Atad3a T A 4: 155,755,682 Q121H probably damaging Het
Bptf T A 11: 107,073,047 I1711F probably damaging Het
C2cd4c A T 10: 79,612,230 I361N probably damaging Het
Canx A G 11: 50,308,394 probably benign Het
Ccdc127 C T 13: 74,356,915 T194I probably benign Het
Cdc42ep3 T C 17: 79,335,036 K152E probably benign Het
Cdh15 G C 8: 122,857,495 E112Q probably damaging Het
Cnbd2 T C 2: 156,339,284 probably null Het
Crybg1 T C 10: 43,975,078 N1599S probably benign Het
Cyc1 T C 15: 76,344,348 V59A probably benign Het
Cyp2j11 T C 4: 96,294,880 K484E probably benign Het
Ddx60 T C 8: 61,958,159 probably benign Het
Epg5 T C 18: 77,962,427 S711P probably damaging Het
Espl1 A T 15: 102,305,685 Q649L probably benign Het
Eya1 G A 1: 14,304,414 probably benign Het
Fam214a A T 9: 75,006,321 T79S probably benign Het
Fam71e2 T A 7: 4,757,688 H675L possibly damaging Het
Fat2 T A 11: 55,296,087 Y1311F probably damaging Het
Gins4 T C 8: 23,227,128 Y208C probably damaging Het
Gsk3b T C 16: 38,090,575 V17A probably benign Het
Gykl1 A T 18: 52,694,761 K347I probably benign Het
Helz T A 11: 107,592,840 probably benign Het
Hivep3 C T 4: 120,096,575 T696I possibly damaging Het
Ifi27l2a G T 12: 103,442,834 probably benign Het
Kif13a A G 13: 46,791,511 probably benign Het
Kpna3 C T 14: 61,383,220 probably benign Het
Mmp15 C G 8: 95,369,562 P327R probably benign Het
Mrc1 A T 2: 14,315,263 T1003S probably benign Het
Mtss1 T C 15: 58,947,390 D393G probably benign Het
Olfm4 T A 14: 80,021,403 Y331N probably damaging Het
Olfr1255 G C 2: 89,816,381 L12F probably damaging Het
Olfr517 T A 7: 108,868,960 N65Y probably damaging Het
P2rx3 G C 2: 85,024,950 T54R possibly damaging Het
Pacsin1 C T 17: 27,705,963 T217I probably damaging Het
Phlpp1 A G 1: 106,380,425 probably null Het
Plb1 A G 5: 32,264,912 R70G possibly damaging Het
Rab3gap2 G A 1: 185,247,904 A340T probably damaging Het
Rnf103 T A 6: 71,508,999 W205R probably damaging Het
Rps6kc1 G A 1: 190,798,726 T936M probably damaging Het
Spef2 T C 15: 9,596,707 probably benign Het
Sstr4 A G 2: 148,396,359 S297G probably benign Het
Timm8a1 C T X: 134,538,123 E93K probably benign Het
Uck1 A C 2: 32,258,355 Y150D probably damaging Het
Yipf4 A G 17: 74,498,305 probably benign Het
Other mutations in Pknox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Pknox1 APN 17 31599645 critical splice donor site probably null
IGL01830:Pknox1 APN 17 31595310 missense probably benign 0.21
IGL02070:Pknox1 APN 17 31603365 splice site probably benign
IGL02309:Pknox1 APN 17 31590709 missense probably benign 0.34
IGL02707:Pknox1 APN 17 31602819 missense possibly damaging 0.84
3-1:Pknox1 UTSW 17 31588462 missense probably benign 0.02
R0001:Pknox1 UTSW 17 31599636 missense probably damaging 0.98
R0147:Pknox1 UTSW 17 31604790 missense probably benign 0.01
R0148:Pknox1 UTSW 17 31604790 missense probably benign 0.01
R0388:Pknox1 UTSW 17 31603192 missense probably damaging 1.00
R0443:Pknox1 UTSW 17 31592219 missense probably damaging 1.00
R0920:Pknox1 UTSW 17 31596891 missense probably damaging 0.99
R1563:Pknox1 UTSW 17 31595282 missense probably damaging 1.00
R4199:Pknox1 UTSW 17 31602816 missense probably damaging 0.96
R4200:Pknox1 UTSW 17 31599610 missense probably benign 0.04
R4665:Pknox1 UTSW 17 31595326 critical splice donor site probably null
R4700:Pknox1 UTSW 17 31603312 missense probably damaging 1.00
R4764:Pknox1 UTSW 17 31590713 missense possibly damaging 0.92
R5127:Pknox1 UTSW 17 31590739 missense probably benign 0.00
R6220:Pknox1 UTSW 17 31603203 nonsense probably null
R6712:Pknox1 UTSW 17 31595316 missense probably benign 0.23
R6865:Pknox1 UTSW 17 31588560 missense probably damaging 0.98
R7186:Pknox1 UTSW 17 31603198 missense probably damaging 1.00
R8746:Pknox1 UTSW 17 31590650 missense possibly damaging 0.83
R8781:Pknox1 UTSW 17 31602863 critical splice donor site probably benign
R8865:Pknox1 UTSW 17 31599546 missense probably benign 0.01
R9032:Pknox1 UTSW 17 31603255 missense possibly damaging 0.48
R9085:Pknox1 UTSW 17 31603255 missense possibly damaging 0.48
R9265:Pknox1 UTSW 17 31590698 missense probably damaging 1.00
R9359:Pknox1 UTSW 17 31603255 missense possibly damaging 0.48
R9401:Pknox1 UTSW 17 31583778 missense probably benign 0.30
R9516:Pknox1 UTSW 17 31603209 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCTGAAGGAGGAACTCTGCTCTG -3'
(R):5'- AGAGTCTCCGTCATCAAGGAAGCC -3'

Sequencing Primer
(F):5'- GAACTCTGCTCTGTATGGCAC -3'
(R):5'- GTTAACGCTGAGTGACCAATAC -3'
Posted On 2014-03-14