Incidental Mutation 'R0148:Pknox1'
ID60888
Institutional Source Beutler Lab
Gene Symbol Pknox1
Ensembl Gene ENSMUSG00000006705
Gene NamePbx/knotted 1 homeobox
SynonymsD17Wsu76e, PREP1
MMRRC Submission 038432-MU
Accession Numbers

Genbank: NM_016670; MGI: 1201409

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0148 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location31564749-31607684 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 31604790 bp
ZygosityHeterozygous
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]
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: 121,662,446 probably null Het
Agtr1a T C 13: 30,381,944 S331P probably benign Het
Ank1 T A 8: 23,123,977 N1545K probably damaging Het
Bahcc1 A T 11: 120,268,404 Q152H probably damaging Het
Bend3 T A 10: 43,511,950 Y780N probably damaging Het
Bod1l G T 5: 41,818,697 A1758E possibly damaging Het
Ctcfl T C 2: 173,118,547 D81G possibly damaging Het
Ddx39 C T 8: 83,722,476 R298C possibly damaging Het
Dock8 T C 19: 25,119,459 L577P probably benign Het
Drc1 A T 5: 30,281,489 N13I possibly damaging Het
Efl1 T C 7: 82,671,670 S104P probably damaging Het
Eml4 T A 17: 83,421,652 N85K probably damaging Het
Epb41l4a T C 18: 33,798,800 T581A probably damaging Het
Epha3 T C 16: 63,612,944 D446G possibly damaging Het
Fam209 G T 2: 172,473,980 G92C probably damaging Het
Fbln1 G A 15: 85,230,826 R193H probably damaging Het
Fbxw21 A G 9: 109,148,017 probably null Het
Fgf17 C T 14: 70,638,873 R49Q probably damaging Het
Flnb T C 14: 7,939,077 S2307P probably benign Het
Galr1 A G 18: 82,405,570 L194P probably benign Het
Gar1 T C 3: 129,829,473 H89R probably damaging Het
Gbp4 T A 5: 105,119,496 Y519F probably benign Het
Git1 A G 11: 77,505,728 T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 probably null Het
Gm5142 C T 14: 59,178,670 R13H possibly damaging Het
Gria2 A C 3: 80,707,731 W481G probably damaging Het
Homer2 T C 7: 81,624,278 T57A probably benign Het
Hpse2 A C 19: 42,931,660 probably null Het
Hspb7 T C 4: 141,423,991 I148T probably damaging Het
Htr1d C A 4: 136,443,477 T339K probably damaging Het
Il4ra T A 7: 125,575,537 C306S probably damaging Het
Kansl3 A T 1: 36,353,816 C225S probably damaging Het
Lama3 G A 18: 12,448,272 C596Y probably damaging Het
Lama5 T C 2: 180,190,406 H1714R probably benign Het
March6 C T 15: 31,490,612 V293M probably damaging Het
Med12l A G 3: 59,037,654 D100G probably damaging Het
Mettl14 G A 3: 123,371,394 T316I probably damaging Het
Mmp15 A T 8: 95,372,317 N591Y probably benign Het
Mrpl53 T C 6: 83,109,537 L74P probably damaging Het
Mvp C T 7: 126,989,865 V577M probably damaging Het
Neb T C 2: 52,249,376 K140E probably damaging Het
Nfya A G 17: 48,398,998 V48A possibly damaging Het
Ngf G T 3: 102,509,803 probably benign Het
Nipsnap3b C T 4: 53,017,088 A104V possibly damaging Het
Nlrp14 A G 7: 107,182,721 Y375C probably benign Het
Nod1 A G 6: 54,938,217 Y764H probably damaging Het
Olfr225 G A 11: 59,613,494 V177M probably damaging Het
Olfr270 A T 4: 52,971,232 I204F probably benign Het
Olfr873 T G 9: 20,301,091 M297R probably damaging Het
Pcdhb19 A T 18: 37,497,182 Q10L probably benign Het
Pdcl T C 2: 37,352,130 I203V probably benign Het
Peg10 C A 6: 4,755,711 R96S possibly damaging Het
Prodh T G 16: 18,077,813 Q360P probably damaging Het
Raf1 C T 6: 115,632,973 G202S probably benign Het
Rgs11 T A 17: 26,207,459 probably null Het
Rilp A T 11: 75,510,233 H29L probably damaging Het
Rtel1 T C 2: 181,321,046 C31R probably damaging Het
Rubcnl T A 14: 75,042,458 I427K probably damaging Het
Ryr1 C A 7: 29,052,035 R3706L probably damaging Het
Ryr2 T C 13: 11,714,548 D2396G probably damaging Het
Slc45a2 T C 15: 11,025,868 S435P probably damaging Het
Spata17 A G 1: 187,112,601 V111A probably damaging Het
Svep1 C T 4: 58,116,608 D881N possibly damaging Het
Sypl2 T A 3: 108,219,095 N67I possibly damaging Het
Tenm3 T C 8: 48,236,720 Y1944C probably damaging Het
Tep1 A T 14: 50,824,789 D2535E possibly damaging Het
Tkt T A 14: 30,572,220 I529N probably damaging Het
Trp53i11 T G 2: 93,197,735 V39G probably damaging Het
Trpm2 C T 10: 77,925,825 G997D probably damaging Het
Usp3 A G 9: 66,540,167 V219A possibly damaging Het
Usp4 T A 9: 108,391,671 probably null Het
Wdfy3 A G 5: 101,917,411 V1297A probably benign Het
Wdr46 T A 17: 33,941,023 F70I probably benign Het
Xkr6 T C 14: 63,819,549 V303A unknown Het
Zdbf2 C T 1: 63,304,006 Q515* probably null Het
Zfhx2 A G 14: 55,072,897 Y731H possibly damaging 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
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
R1428:Pknox1 UTSW 17 31592092 splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- ACGTGATACCAATCCTGTCCTGGC -3'
(R):5'- TGCTGTGCAAACAGTGAAGAGTCC -3'

Sequencing Primer
(F):5'- CTGGCTGTGCTTTGCTCTAA -3'
(R):5'- AGTGAAGAGTCCAGCGCC -3'
Posted On2013-07-24