Incidental Mutation 'IGL01616:Psrc1'
ID92398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psrc1
Ensembl Gene ENSMUSG00000068744
Gene Nameproline/serine-rich coiled-coil 1
SynonymsDDA3, 5430413I02Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.509) question?
Stock #IGL01616
Quality Score
Status
Chromosome3
Chromosomal Location108383839-108388231 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 108386692 bp
ZygosityHeterozygous
Amino Acid Change Serine to Tyrosine at position 275 (S275Y)
Ref Sequence ENSEMBL: ENSMUSP00000099689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090558] [ENSMUST00000090561] [ENSMUST00000102629] [ENSMUST00000128089]
Predicted Effect probably benign
Transcript: ENSMUST00000090558
SMART Domains Protein: ENSMUSP00000088046
Gene: ENSMUSG00000068740

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 35 53 N/A INTRINSIC
CA 203 287 1.36e-26 SMART
CA 311 397 1.33e-29 SMART
CA 421 503 2.59e-27 SMART
CA 527 608 3.33e-30 SMART
CA 632 710 5.18e-18 SMART
CA 734 813 1.08e-29 SMART
CA 837 919 8.08e-29 SMART
low complexity region 920 932 N/A INTRINSIC
CA 943 1021 4.3e-24 SMART
CA 1049 1125 1.87e-1 SMART
low complexity region 1188 1198 N/A INTRINSIC
EGF 1231 1286 1.81e-3 SMART
EGF_CA 1288 1324 2.24e-8 SMART
EGF 1331 1366 6.65e-2 SMART
LamG 1387 1554 8.4e-30 SMART
EGF 1577 1610 8e-5 SMART
LamG 1636 1770 1.56e-24 SMART
EGF 1796 1829 2.35e-2 SMART
EGF 1831 1867 3.88e-3 SMART
TNFR 1908 1943 1.35e-1 SMART
EGF_Lam 1924 1969 9.54e-12 SMART
HormR 1972 2034 1.57e-20 SMART
Pfam:GAIN 2046 2289 3e-62 PFAM
GPS 2315 2368 1.86e-25 SMART
Pfam:7tm_2 2373 2605 1.1e-48 PFAM
low complexity region 2715 2733 N/A INTRINSIC
low complexity region 2857 2873 N/A INTRINSIC
low complexity region 2874 2881 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090561
AA Change: S275Y

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088049
Gene: ENSMUSG00000068744
AA Change: S275Y

DomainStartEndE-ValueType
Pfam:GTSE1_N 7 124 4.8e-24 PFAM
low complexity region 131 143 N/A INTRINSIC
low complexity region 222 231 N/A INTRINSIC
low complexity region 300 316 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102629
AA Change: S275Y

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099689
Gene: ENSMUSG00000068744
AA Change: S275Y

DomainStartEndE-ValueType
Pfam:GTSE1_N 8 108 2e-12 PFAM
low complexity region 131 143 N/A INTRINSIC
low complexity region 222 231 N/A INTRINSIC
low complexity region 300 316 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126461
Predicted Effect probably benign
Transcript: ENSMUST00000128089
SMART Domains Protein: ENSMUSP00000115634
Gene: ENSMUSG00000068744

DomainStartEndE-ValueType
Pfam:GTSE1_N 22 139 6.5e-25 PFAM
low complexity region 146 158 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148509
SMART Domains Protein: ENSMUSP00000120482
Gene: ENSMUSG00000068744

DomainStartEndE-ValueType
Pfam:GTSE1_N 5 106 3.9e-18 PFAM
low complexity region 113 125 N/A INTRINSIC
low complexity region 204 213 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196430
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T A 16: 85,887,814 probably null Het
Afg3l1 T A 8: 123,502,007 W771R probably damaging Het
Braf A G 6: 39,651,652 S348P probably damaging Het
Cd200 T C 16: 45,397,056 T112A possibly damaging Het
Cep350 T C 1: 155,953,247 I304V probably benign Het
Fry A G 5: 150,399,599 T1072A probably damaging Het
Fry A T 5: 150,438,811 probably null Het
Fuk G T 8: 110,890,476 H388N possibly damaging Het
Gcdh C T 8: 84,893,659 G8D probably damaging Het
Ivns1abp C A 1: 151,361,543 T486K possibly damaging Het
Mat1a G A 14: 41,109,479 V55M probably damaging Het
Olfr656 T C 7: 104,617,721 F22S probably damaging Het
Pcnx3 C T 19: 5,667,259 probably benign Het
Ptpn21 A G 12: 98,680,013 L1062P probably damaging Het
Slc22a13b-ps A C 9: 119,220,928 probably benign Het
Slc35b1 T A 11: 95,389,084 M178K probably benign Het
Slc6a11 A T 6: 114,134,868 Q132L possibly damaging Het
Slc9a8 C T 2: 167,424,166 T21I possibly damaging Het
Tox T C 4: 6,688,430 T526A probably damaging Het
Ubr3 C T 2: 70,020,484 P1749S probably benign Het
Wdfy3 C A 5: 101,913,260 A1363S probably damaging Het
Zdhhc23 T A 16: 43,973,480 H277L probably damaging Het
Other mutations in Psrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1481:Psrc1 UTSW 3 108384993 missense probably benign 0.09
R1637:Psrc1 UTSW 3 108385293 missense probably damaging 1.00
R1645:Psrc1 UTSW 3 108385238 missense probably damaging 1.00
R5000:Psrc1 UTSW 3 108380523 unclassified probably benign
R5275:Psrc1 UTSW 3 108386359 missense probably benign 0.01
R5295:Psrc1 UTSW 3 108386359 missense probably benign 0.01
R6810:Psrc1 UTSW 3 108385348 missense possibly damaging 0.87
R7545:Psrc1 UTSW 3 108386443 splice site probably null
R7909:Psrc1 UTSW 3 108385251 missense probably damaging 1.00
R8237:Psrc1 UTSW 3 108386614 missense probably damaging 1.00
R8312:Psrc1 UTSW 3 108386357 missense probably benign 0.01
Z1192:Psrc1 UTSW 3 108386557 nonsense probably null
Posted On2013-12-09