Incidental Mutation 'IGL02707:Pknox1'
ID304386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pknox1
Ensembl Gene ENSMUSG00000006705
Gene NamePbx/knotted 1 homeobox
SynonymsD17Wsu76e, PREP1
Accession Numbers

Genbank: NM_016670; MGI: 1201409

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02707
Quality Score
Status
Chromosome17
Chromosomal Location31564749-31607684 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31602819 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 295 (I295V)
Ref Sequence ENSEMBL: ENSMUSP00000135804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097352] [ENSMUST00000175806] [ENSMUST00000176701]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097352
AA Change: I295V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705
AA Change: I295V

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 possibly damaging
Transcript: ENSMUST00000175806
AA Change: I295V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705
AA Change: I295V

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 noncoding transcript
Transcript: ENSMUST00000176513
Predicted Effect possibly damaging
Transcript: ENSMUST00000176701
AA Change: I295V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705
AA Change: I295V

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
Coding Region Coverage
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,258,645 T149A probably benign Het
4932414N04Rik A C 2: 68,731,130 Q267P possibly damaging Het
Actr5 T C 2: 158,636,697 V489A probably benign Het
Adam26b T C 8: 43,519,858 probably benign Het
Aff4 A G 11: 53,399,740 N509S probably benign Het
Arhgap22 C T 14: 33,363,272 probably benign Het
Arhgap9 C A 10: 127,329,607 H628Q probably damaging Het
Asap1 A T 15: 64,129,274 I486N probably damaging Het
Asb15 A T 6: 24,558,788 probably benign Het
Avil A G 10: 127,006,562 D70G probably damaging Het
Cct6b T C 11: 82,754,954 probably benign Het
Cep63 A T 9: 102,586,981 I717K probably damaging Het
Chd4 G T 6: 125,108,767 A875S probably damaging Het
Col4a4 A T 1: 82,493,516 M706K unknown Het
Cr1l T C 1: 195,123,711 T155A probably benign Het
Ctnna3 A G 10: 63,504,065 N10S probably benign Het
Cubn A G 2: 13,446,032 V854A probably damaging Het
Dgkh T C 14: 78,585,651 T845A possibly damaging Het
F10 G A 8: 13,048,252 A152T probably damaging Het
Gabrg3 C A 7: 56,982,691 E170* probably null Het
Heatr5a A G 12: 51,921,366 V829A probably benign Het
Htt T A 5: 34,829,881 probably null Het
Icam4 T C 9: 21,030,474 Y257H possibly damaging Het
Jph1 A G 1: 17,004,451 S448P probably benign Het
Kansl1l G A 1: 66,773,445 L125F probably damaging Het
Kifc1 A T 17: 33,881,493 C46* probably null Het
Lce3b A G 3: 92,933,886 D96G unknown Het
Mab21l1 A T 3: 55,783,084 I31F possibly damaging Het
Mctp2 A G 7: 72,259,341 Y75H possibly damaging Het
Mesp2 A G 7: 79,811,526 I200V probably benign Het
Msr1 T C 8: 39,632,829 probably benign Het
Mtfr2 C T 10: 20,348,338 T6I probably benign Het
Myo5b T C 18: 74,695,367 probably benign Het
Myoc T A 1: 162,639,460 I66N probably benign Het
Olfr1242 A T 2: 89,493,827 Y162N probably damaging Het
Olfr1355 T C 10: 78,879,925 L251S probably damaging Het
Olfr149 T C 9: 39,702,641 I43V probably damaging Het
Olfr639 A C 7: 104,012,402 L100W probably damaging Het
Olfr659 T C 7: 104,670,929 C76R probably damaging Het
Olfr667 A G 7: 104,916,652 C215R probably damaging Het
Per2 T C 1: 91,450,728 D33G possibly damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rhot2 A G 17: 25,844,296 S19P probably damaging Het
Rps6kb1 C A 11: 86,535,410 probably null Het
Serpinb1b C T 13: 33,091,665 T194I probably benign Het
Smarcad1 T A 6: 65,052,806 probably benign Het
Stxbp4 A G 11: 90,537,933 S449P probably benign Het
Thrb A C 14: 18,026,721 I275L probably benign Het
Tjp1 T A 7: 65,329,683 K365* probably null Het
Tjp1 T A 7: 65,329,682 K365I possibly damaging Het
Tm4sf4 C A 3: 57,426,518 C75* probably null Het
Tmem131 T C 1: 36,825,479 T558A probably benign Het
Txndc16 T C 14: 45,162,273 T408A probably benign Het
Ube2j1 T C 4: 33,038,206 L38P possibly damaging Het
Urb2 T C 8: 124,030,686 I1044T 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
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
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
Posted On2015-04-16