Incidental Mutation 'IGL02668:Phykpl'
ID302832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phykpl
Ensembl Gene ENSMUSG00000020359
Gene Name5-phosphohydroxy-L-lysine phospholyase
SynonymsAgxt2l2, 2900006B13Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.456) question?
Stock #IGL02668
Quality Score
Status
Chromosome11
Chromosomal Location51584757-51604489 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 51593687 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020625] [ENSMUST00000101250] [ENSMUST00000167797]
Predicted Effect probably null
Transcript: ENSMUST00000020625
SMART Domains Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Pfam:Aminotran_3 27 433 2.1e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101250
SMART Domains Protein: ENSMUSP00000098808
Gene: ENSMUSG00000020359

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Pfam:Aminotran_3 33 212 8.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156128
Predicted Effect probably null
Transcript: ENSMUST00000167797
SMART Domains Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Pfam:Aminotran_3 33 373 1.5e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169823
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene overlaps in a tail-to-tail orientation the gene encoding heterogeneous nuclear ribonucleoprotein A/B. The terminal exon of this gene is interspersed with exons of heterogeneous nuclear ribonucleoprotein A/B. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,810,117 M167T probably benign Het
Abcc4 G T 14: 118,611,475 S488R probably damaging Het
Adprm G T 11: 67,040,247 D230E possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Casc1 G T 6: 145,205,257 R30S unknown Het
Ccdc66 T C 14: 27,497,341 K309E possibly damaging Het
Cyb561d2 C T 9: 107,540,172 A127T probably benign Het
Dctn1 T A 6: 83,191,048 M357K possibly damaging Het
Diras2 T C 13: 52,507,770 N167S probably benign Het
Dmgdh T G 13: 93,703,910 V283G probably damaging Het
Dmxl2 A T 9: 54,416,945 W1052R probably damaging Het
Dnah6 A T 6: 73,121,823 V2083D possibly damaging Het
Exoc4 T G 6: 33,921,532 F895L probably benign Het
Fsip1 G T 2: 118,251,725 A76E probably benign Het
Fsip2 A G 2: 82,998,318 I6820V probably benign Het
Hdac10 G A 15: 89,125,644 P395L probably benign Het
Ing3 A G 6: 21,950,059 D17G probably damaging Het
Map3k4 A T 17: 12,235,953 F1383L possibly damaging Het
Mpp6 C T 6: 50,194,529 T386I probably damaging Het
Myct1 C A 10: 5,604,513 P127T probably damaging Het
Olfr593 A T 7: 103,212,735 I281F possibly damaging Het
Osbpl7 G T 11: 97,067,205 A625S possibly damaging Het
Padi2 C T 4: 140,949,880 R660C probably benign Het
Paip1 A T 13: 119,438,071 I185F probably damaging Het
Plekhg6 G A 6: 125,372,803 probably benign Het
Plxna1 A T 6: 89,357,269 L126* probably null Het
Rchy1 A T 5: 91,962,718 M1K probably null Het
Rfx3 T C 19: 27,815,614 probably benign Het
Sdr9c7 T C 10: 127,902,398 F182L probably damaging Het
Sgpl1 A C 10: 61,105,450 V294G probably damaging Het
Sh2b1 A G 7: 126,472,474 S180P possibly damaging Het
Sorbs1 T C 19: 40,314,681 D488G probably damaging Het
Stab2 A G 10: 86,846,163 probably benign Het
Sycp1 A C 3: 102,820,531 probably benign Het
Tmem245 T C 4: 56,925,081 K347E possibly damaging Het
Tnk1 A G 11: 69,856,923 M51T probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubd G T 17: 37,195,529 R102L probably benign Het
Uhrf1bp1 A C 17: 27,886,575 I692L possibly damaging Het
Vmn2r103 G T 17: 19,794,127 A394S probably benign Het
Zfp324 T A 7: 12,970,846 C321S probably damaging Het
Zfp488 G T 14: 33,970,820 Q129K probably benign Het
Zmpste24 T A 4: 121,061,100 N442Y probably damaging Het
Other mutations in Phykpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Phykpl APN 11 51599456 splice site probably benign
IGL01809:Phykpl APN 11 51599524 missense probably benign 0.09
IGL02636:Phykpl APN 11 51598713 missense probably damaging 1.00
R0114:Phykpl UTSW 11 51586653 missense probably benign 0.00
R0308:Phykpl UTSW 11 51593596 splice site probably benign
R0332:Phykpl UTSW 11 51586675 missense probably benign 0.30
R0831:Phykpl UTSW 11 51585539 nonsense probably null
R3434:Phykpl UTSW 11 51598655 missense probably benign
R4272:Phykpl UTSW 11 51585528 missense probably damaging 1.00
R4539:Phykpl UTSW 11 51594088 missense probably damaging 1.00
R4618:Phykpl UTSW 11 51592229 missense probably damaging 1.00
R4633:Phykpl UTSW 11 51593608 missense probably damaging 1.00
R4816:Phykpl UTSW 11 51592953 missense probably benign
R4823:Phykpl UTSW 11 51586593 missense probably damaging 0.99
R5415:Phykpl UTSW 11 51585515 missense probably benign 0.00
R5920:Phykpl UTSW 11 51602795 missense probably benign
R6370:Phykpl UTSW 11 51586716 missense probably damaging 1.00
R6611:Phykpl UTSW 11 51598354 missense probably damaging 1.00
R6617:Phykpl UTSW 11 51593954 missense probably damaging 1.00
R7319:Phykpl UTSW 11 51598703 missense probably benign 0.20
R7340:Phykpl UTSW 11 51599543 missense probably damaging 1.00
Posted On2015-04-16