Incidental Mutation 'IGL03381:Psip1'
ID420698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psip1
Ensembl Gene ENSMUSG00000028484
Gene NamePC4 and SFRS1 interacting protein 1
SynonymsPsip2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.487) question?
Stock #IGL03381
Quality Score
Status
Chromosome4
Chromosomal Location83455680-83486459 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83485785 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 2 (T2A)
Ref Sequence ENSEMBL: ENSMUSP00000102833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030207] [ENSMUST00000107214] [ENSMUST00000107215] [ENSMUST00000130626]
Predicted Effect probably benign
Transcript: ENSMUST00000030207
AA Change: T2A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484
AA Change: T2A

DomainStartEndE-ValueType
PWWP 5 62 1.98e-17 SMART
low complexity region 143 155 N/A INTRINSIC
low complexity region 212 255 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 327 343 N/A INTRINSIC
Pfam:LEDGF 347 448 4.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107214
AA Change: T2A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102832
Gene: ENSMUSG00000028484
AA Change: T2A

DomainStartEndE-ValueType
PWWP 5 62 1.98e-17 SMART
low complexity region 143 155 N/A INTRINSIC
low complexity region 212 255 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107215
AA Change: T2A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102833
Gene: ENSMUSG00000028484
AA Change: T2A

DomainStartEndE-ValueType
PWWP 5 62 1.98e-17 SMART
low complexity region 143 155 N/A INTRINSIC
low complexity region 212 255 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 316 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130626
AA Change: T2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121950
Gene: ENSMUSG00000028484
AA Change: T2A

DomainStartEndE-ValueType
PWWP 5 62 1.98e-17 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene tend to die perinatally. Survivors show reduced fertility and a variety of skeletal and behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T C 6: 50,589,136 S120G probably damaging Het
A330017A19Rik T C 17: 46,889,886 probably benign Het
Abca16 T C 7: 120,527,818 F1243S probably benign Het
Adgrv1 A G 13: 81,517,967 V1990A probably damaging Het
Arhgdib G A 6: 136,932,316 T69I probably benign Het
Atf2 G A 2: 73,828,668 A214V probably benign Het
Ccr2 G A 9: 124,106,372 V230I probably benign Het
Cnksr1 T C 4: 134,232,171 E384G probably damaging Het
Epha5 T A 5: 84,331,332 D271V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm13083 T C 4: 143,617,055 probably benign Het
Gpr15 A G 16: 58,717,976 F250S probably damaging Het
Gzmf A T 14: 56,206,993 V41E probably benign Het
H2-T10 C T 17: 36,119,354 D232N probably benign Het
H2-T10 T A 17: 36,119,357 K231* probably null Het
Hsd3b6 A G 3: 98,807,812 V88A possibly damaging Het
Kit C T 5: 75,607,128 T57M probably benign Het
Klhl22 A G 16: 17,792,727 D614G possibly damaging Het
Matr3 T A 18: 35,579,025 probably benign Het
Mff A G 1: 82,741,940 Y213C probably damaging Het
Mrnip A G 11: 50,199,590 T194A probably benign Het
Msh6 T C 17: 87,985,109 F431L probably damaging Het
Mttp G A 3: 138,104,943 R637C probably damaging Het
Nlrc3 A G 16: 3,964,315 V410A probably benign Het
Olfr1225 A G 2: 89,171,179 I11T possibly damaging Het
Olfr1462 T A 19: 13,191,405 V246D probably damaging Het
Olfr69 T C 7: 103,767,837 I187V probably benign Het
Rbm33 T C 5: 28,394,392 F921L unknown Het
Rhbdl2 T C 4: 123,822,817 V189A possibly damaging Het
Rpap2 C T 5: 107,620,201 P302S probably benign Het
Sec23ip T A 7: 128,750,305 V32D probably damaging Het
Sh3yl1 T C 12: 30,926,837 I47T possibly damaging Het
Tenm2 A C 11: 36,068,411 S1104A probably benign Het
Ufd1 A G 16: 18,825,757 D190G probably damaging Het
Ugt1a7c T C 1: 88,095,790 F224L probably benign Het
Utp20 G T 10: 88,822,005 F64L probably damaging Het
Vmn1r198 A G 13: 22,354,836 Y164C probably benign Het
Wdcp T A 12: 4,851,926 V594D probably damaging Het
Xirp2 A C 2: 67,514,226 E2270D probably benign Het
Other mutations in Psip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02414:Psip1 APN 4 83468637 missense probably benign 0.00
IGL02801:Psip1 APN 4 83458120 missense probably benign 0.02
IGL02995:Psip1 APN 4 83463717 intron probably benign
IGL03070:Psip1 APN 4 83465081 missense probably damaging 0.99
R0167:Psip1 UTSW 4 83466818 unclassified probably null
R0288:Psip1 UTSW 4 83464959 missense probably damaging 1.00
R0365:Psip1 UTSW 4 83485712 splice site probably null
R0514:Psip1 UTSW 4 83460037 missense probably damaging 1.00
R0590:Psip1 UTSW 4 83458144 missense probably benign 0.00
R0734:Psip1 UTSW 4 83463588 intron probably benign
R0774:Psip1 UTSW 4 83460452 frame shift probably null
R1016:Psip1 UTSW 4 83459898 missense possibly damaging 0.48
R1256:Psip1 UTSW 4 83474367 missense probably benign
R1819:Psip1 UTSW 4 83458163 missense probably benign 0.01
R1993:Psip1 UTSW 4 83482532 missense probably damaging 0.99
R5423:Psip1 UTSW 4 83460130 intron probably benign
R5940:Psip1 UTSW 4 83476322 missense probably damaging 1.00
R6173:Psip1 UTSW 4 83473049 unclassified probably null
R6200:Psip1 UTSW 4 83474373 missense probably benign 0.20
R6809:Psip1 UTSW 4 83468642 missense probably benign 0.00
Posted On2016-08-02