Incidental Mutation 'R8516:Psip1'
ID 656131
Institutional Source Beutler Lab
Gene Symbol Psip1
Ensembl Gene ENSMUSG00000028484
Gene Name PC4 and SFRS1 interacting protein 1
Synonyms Psip2
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.500) question?
Stock # R8516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 83455680-83486459 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83466715 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 207 (G207S)
Ref Sequence ENSEMBL: ENSMUSP00000030207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030207] [ENSMUST00000107214] [ENSMUST00000107215] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000143533]
AlphaFold Q99JF8
Predicted Effect probably benign
Transcript: ENSMUST00000030207
AA Change: G207S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484
AA Change: G207S

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: G207S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102832
Gene: ENSMUSG00000028484
AA Change: G207S

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: G207S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102833
Gene: ENSMUSG00000028484
AA Change: G207S

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: ENSMUST00000123262
SMART Domains Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124856
SMART Domains Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126706
SMART Domains Protein: ENSMUSP00000120799
Gene: ENSMUSG00000028484

DomainStartEndE-ValueType
low complexity region 1 20 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143533
SMART Domains Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,373 S22T probably benign Het
Actr8 G T 14: 29,990,899 A500S probably benign Het
Adamtsl1 A G 4: 86,342,543 Y1005C probably damaging Het
Ank3 T A 10: 69,927,729 Y884* probably null Het
Arhgap28 T C 17: 67,873,073 R306G probably benign Het
Atp8a2 A C 14: 59,691,472 I1044M probably benign Het
Bahd1 A G 2: 118,916,971 Y357C probably benign Het
Btd A T 14: 31,666,867 T182S probably damaging Het
Casc3 C T 11: 98,822,781 R280C probably damaging Het
Cisd2 T C 3: 135,411,013 T106A probably damaging Het
Cldn15 G T 5: 136,974,696 C184F probably damaging Het
Clk4 G A 11: 51,275,261 R198Q probably damaging Het
Coprs G T 8: 13,885,065 F163L probably damaging Het
Csmd3 G A 15: 47,629,365 R2216* probably null Het
Defb7 A T 8: 19,497,607 I43F possibly damaging Het
Dpp8 C A 9: 65,078,009 T783K probably damaging Het
Eif2s1 G A 12: 78,881,162 G204D probably damaging Het
Elavl4 T C 4: 110,251,379 N56S probably damaging Het
Emilin1 G A 5: 30,917,171 R252H probably damaging Het
Exd1 A T 2: 119,520,073 L569Q probably damaging Het
Gm498 T A 7: 143,897,274 I342N probably damaging Het
Gpn2 C T 4: 133,584,831 R125C probably damaging Het
Gria2 T C 3: 80,706,987 E582G probably benign Het
Hadha A T 5: 30,126,584 V458E probably damaging Het
Hap1 T C 11: 100,356,067 K4R possibly damaging Het
Hectd4 A T 5: 121,349,010 H3356L possibly damaging Het
Herc2 G A 7: 56,206,570 V3919I probably benign Het
Lgr6 G T 1: 135,075,283 N76K probably damaging Het
Olfr692 A G 7: 105,368,769 I148V probably benign Het
P4ha3 A G 7: 100,314,662 M462V probably damaging Het
Pde3b A T 7: 114,526,849 M773L probably benign Het
Peak1 T C 9: 56,260,000 S215G probably damaging Het
Pgm5 T A 19: 24,815,710 M331L probably benign Het
Piwil2 A G 14: 70,420,739 V213A probably benign Het
Plch2 T C 4: 154,986,307 H1205R probably benign Het
Pop4 A T 7: 38,267,402 M85K probably benign Het
Ppp3ca T A 3: 136,877,768 I212N probably damaging Het
Prom1 T C 5: 44,007,099 K714R probably benign Het
Rgs22 A G 15: 36,010,335 *1259Q probably null Het
Scn1a C T 2: 66,326,134 G477D possibly damaging Het
Sf3b1 T C 1: 55,012,103 E222G probably null Het
Snrpa1 G A 7: 66,070,633 G195R probably benign Het
Spem2 T C 11: 69,816,895 R415G possibly damaging Het
Tmem167 T A 13: 90,098,396 V13E probably damaging Het
Trim2 C T 3: 84,208,320 A102T probably damaging Het
Trim30b A G 7: 104,357,404 S82P probably benign Het
Uba6 A C 5: 86,127,748 S760R possibly damaging Het
Upf2 T C 2: 6,018,971 F711L unknown Het
Utrn T A 10: 12,486,510 D2693V probably damaging Het
Vmn1r30 T G 6: 58,435,124 Y241S probably damaging Het
Vmn2r110 A G 17: 20,574,613 L598P probably damaging Het
Wfdc18 T A 11: 83,709,158 F14Y probably benign Het
Wnt10b A T 15: 98,772,880 C256S probably damaging Het
Xrn1 T A 9: 96,048,391 Y1554* probably null Het
Zc3h12a T A 4: 125,119,839 S411C probably damaging Het
Zfp112 G A 7: 24,123,964 G63E probably benign Het
Zfp786 A T 6: 47,820,543 L487Q probably damaging Het
Zfp953 T A 13: 67,345,355 Y75F possibly damaging 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
IGL03381:Psip1 APN 4 83485785 missense probably benign 0.03
R0167:Psip1 UTSW 4 83466818 splice site 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 splice site probably null
R6200:Psip1 UTSW 4 83474373 missense probably benign 0.20
R6809:Psip1 UTSW 4 83468642 missense probably benign 0.00
R7488:Psip1 UTSW 4 83473038 critical splice donor site probably null
R8021:Psip1 UTSW 4 83459955 missense possibly damaging 0.75
RF005:Psip1 UTSW 4 83460498 missense probably damaging 1.00
RF024:Psip1 UTSW 4 83460498 missense probably damaging 1.00
Z1176:Psip1 UTSW 4 83459874 missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- CCCTGTTAGCCTACATGACC -3'
(R):5'- CTATCCCTGGGGTCACTAGTTG -3'

Sequencing Primer
(F):5'- AGAGCAGAAGCAGACTTC -3'
(R):5'- CTGCCTATATATGCCTTGCAT -3'
Posted On 2020-10-20