Incidental Mutation 'IGL01455:Pip5k1a'
ID84751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pip5k1a
Ensembl Gene ENSMUSG00000028126
Gene Namephosphatidylinositol-4-phosphate 5-kinase, type 1 alpha
SynonymsPipk5a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01455
Quality Score
Status
Chromosome3
Chromosomal Location95058530-95106930 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95068160 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 333 (D333G)
Ref Sequence ENSEMBL: ENSMUSP00000005768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005768] [ENSMUST00000107232] [ENSMUST00000107233] [ENSMUST00000107236]
Predicted Effect probably benign
Transcript: ENSMUST00000005768
AA Change: D333G

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
AA Change: D333G

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
PIPKc 93 434 2.79e-184 SMART
low complexity region 447 461 N/A INTRINSIC
low complexity region 508 523 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107231
Predicted Effect probably benign
Transcript: ENSMUST00000107232
AA Change: D333G

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
AA Change: D333G

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
PIPKc 93 434 2.79e-184 SMART
low complexity region 460 475 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107233
AA Change: D335G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
AA Change: D335G

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 18 30 N/A INTRINSIC
PIPKc 95 436 2.79e-184 SMART
low complexity region 449 463 N/A INTRINSIC
low complexity region 510 525 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107236
AA Change: D334G

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
AA Change: D334G

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 18 29 N/A INTRINSIC
PIPKc 94 435 2.79e-184 SMART
low complexity region 448 462 N/A INTRINSIC
low complexity region 509 524 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a knock-out allele exhibit partial lethality and reduced male fertility associated with asthenozoospermia and abnormal midpiece morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,323,305 D87G possibly damaging Het
Adgra3 G A 5: 49,987,557 R565* probably null Het
Akap12 C T 10: 4,356,886 T1232I probably damaging Het
B3gnt2 A T 11: 22,837,042 W49R probably damaging Het
Ccdc112 T A 18: 46,293,444 K137N possibly damaging Het
Ccdc117 G T 11: 5,534,297 T181K possibly damaging Het
Cfh T C 1: 140,105,539 K756E possibly damaging Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cyp2c29 T A 19: 39,329,117 I349K possibly damaging Het
Dcaf15 T C 8: 84,098,590 T434A probably benign Het
Entpd5 T C 12: 84,394,677 I106V probably benign Het
Eps8l1 T A 7: 4,478,923 probably benign Het
Erbin G T 13: 103,859,387 P269Q probably damaging Het
Fam172a A T 13: 77,902,647 probably benign Het
Fbxw22 C T 9: 109,384,994 M251I probably benign Het
Fgd4 T A 16: 16,490,490 T9S probably benign Het
Gm17689 T A 9: 36,581,363 H82L probably benign Het
Haus8 T C 8: 71,253,231 I270V probably benign Het
Herc4 T A 10: 63,286,143 probably null Het
Hspg2 G A 4: 137,553,817 V3367M probably damaging Het
Htr1f A T 16: 64,926,022 F302L probably damaging Het
Inpp5f T C 7: 128,678,049 C458R probably damaging Het
Klhl18 T C 9: 110,432,443 E411G probably damaging Het
Krt20 A T 11: 99,431,943 F289I probably benign Het
Mical1 T C 10: 41,479,069 probably null Het
Nav1 T C 1: 135,469,635 D932G probably benign Het
Nme4 A T 17: 26,092,062 D176E probably benign Het
Nox4 C T 7: 87,376,216 S517L possibly damaging Het
Olfr341 A T 2: 36,479,356 L258H probably damaging Het
Polb T C 8: 22,653,072 Y36C probably damaging Het
Spta1 T C 1: 174,203,311 I953T possibly damaging Het
Sptb A T 12: 76,612,912 D1071E probably damaging Het
Stxbp3-ps T C 19: 9,558,007 noncoding transcript Het
Tmcc3 A T 10: 94,586,755 I356F probably damaging Het
Tmem262 G T 19: 6,080,159 R6L probably damaging Het
Tnks C A 8: 34,940,900 V225L probably damaging Het
Other mutations in Pip5k1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Pip5k1a APN 3 95074072 missense probably damaging 1.00
IGL02536:Pip5k1a APN 3 95064396 missense probably benign 0.01
IGL02612:Pip5k1a APN 3 95067413 missense probably benign 0.02
Biden UTSW 3 95068121 missense probably damaging 1.00
Time UTSW 3 95060498 missense possibly damaging 0.76
R0109:Pip5k1a UTSW 3 95065442 missense probably benign 0.03
R0217:Pip5k1a UTSW 3 95073991 critical splice donor site probably null
R0891:Pip5k1a UTSW 3 95065520 splice site probably benign
R1157:Pip5k1a UTSW 3 95078112 missense probably benign 0.15
R1692:Pip5k1a UTSW 3 95063730 missense probably benign 0.00
R2176:Pip5k1a UTSW 3 95065496 missense probably damaging 1.00
R2187:Pip5k1a UTSW 3 95071918 missense probably damaging 1.00
R3693:Pip5k1a UTSW 3 95078187 splice site probably benign
R3933:Pip5k1a UTSW 3 95072003 missense probably benign 0.00
R4405:Pip5k1a UTSW 3 95068059 critical splice donor site probably null
R4903:Pip5k1a UTSW 3 95070783 missense probably benign 0.01
R4964:Pip5k1a UTSW 3 95070783 missense probably benign 0.01
R5652:Pip5k1a UTSW 3 95067439 missense probably benign
R6314:Pip5k1a UTSW 3 95068121 missense probably damaging 1.00
R6954:Pip5k1a UTSW 3 95068247 missense probably damaging 1.00
R7090:Pip5k1a UTSW 3 95060498 missense possibly damaging 0.76
R7432:Pip5k1a UTSW 3 95074120 missense probably benign 0.01
X0017:Pip5k1a UTSW 3 95078163 missense probably benign 0.00
Posted On2013-11-11