Incidental Mutation 'IGL02217:Proser1'
ID284943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Proser1
Ensembl Gene ENSMUSG00000049504
Gene Nameproline and serine rich 1
Synonyms2810046L04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02217
Quality Score
Status
Chromosome3
Chromosomal Location53463666-53481755 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53471491 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 115 (K115E)
Ref Sequence ENSEMBL: ENSMUSP00000055253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058577]
Predicted Effect probably damaging
Transcript: ENSMUST00000058577
AA Change: K115E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: K115E

DomainStartEndE-ValueType
Pfam:DUF4476 1 63 5e-12 PFAM
Pfam:DUF4476 30 121 4e-27 PFAM
low complexity region 227 246 N/A INTRINSIC
low complexity region 276 297 N/A INTRINSIC
low complexity region 302 316 N/A INTRINSIC
low complexity region 321 331 N/A INTRINSIC
low complexity region 335 357 N/A INTRINSIC
low complexity region 399 412 N/A INTRINSIC
low complexity region 696 718 N/A INTRINSIC
low complexity region 781 804 N/A INTRINSIC
low complexity region 806 817 N/A INTRINSIC
low complexity region 820 834 N/A INTRINSIC
low complexity region 854 880 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141418
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 conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,470,898 probably benign Het
Actn1 G A 12: 80,174,094 Q647* probably null Het
Adamts6 T A 13: 104,462,365 probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabin1 G A 10: 75,700,047 T1389I possibly damaging Het
Cenpc1 A G 5: 86,029,200 probably benign Het
Clca4a T A 3: 144,961,996 T405S possibly damaging Het
Cntln G A 4: 85,100,258 V1168M probably damaging Het
Col18a1 A G 10: 77,053,298 S1494P probably damaging Het
Cps1 A T 1: 67,174,382 T758S probably benign Het
Cul3 A T 1: 80,283,767 M247K probably damaging Het
Cyp3a57 A G 5: 145,369,143 probably null Het
Dennd4c T A 4: 86,813,799 C917S probably benign Het
Dhrs11 A T 11: 84,822,395 Y166* probably null Het
Dtl A G 1: 191,568,314 V146A probably damaging Het
Exosc9 A G 3: 36,552,744 E20G probably damaging Het
Fer A G 17: 64,138,965 K437R probably benign Het
Fkbp6 A T 5: 135,337,630 V284E probably benign Het
Foxq1 A T 13: 31,559,169 S85C probably damaging Het
Galnt12 T A 4: 47,113,832 S83R probably damaging Het
Gm5244 A T 19: 12,846,863 noncoding transcript Het
Gm765 T A 6: 98,248,072 E83D possibly damaging Het
Gm884 T C 11: 103,612,871 probably benign Het
Gpr156 A G 16: 38,005,311 D630G probably benign Het
Hace1 A T 10: 45,590,375 probably null Het
Hemgn G T 4: 46,396,420 T272K probably damaging Het
Ifi213 T G 1: 173,595,032 E89A possibly damaging Het
Jarid2 A G 13: 44,913,201 E954G probably damaging Het
Kcnu1 A G 8: 25,858,184 D126G probably damaging Het
Lbh A T 17: 72,921,252 I31F possibly damaging Het
Muc6 T C 7: 141,649,624 E490G probably damaging Het
Ncoa3 T C 2: 166,055,346 S686P probably damaging Het
Nme4 A G 17: 26,093,860 M108T probably damaging Het
Nod1 A C 6: 54,943,419 V638G possibly damaging Het
Nrip2 A G 6: 128,406,539 N70S probably damaging Het
Olfr1111 A G 2: 87,149,887 M258T probably benign Het
Olfr1344 T A 7: 6,440,245 I115N probably damaging Het
Pitrm1 G A 13: 6,567,341 probably benign Het
Ptov1 C T 7: 44,867,476 G70R probably damaging Het
Qtrt1 T G 9: 21,417,389 probably null Het
Rbbp8nl A G 2: 180,278,188 probably benign Het
Rtn3 G A 19: 7,435,084 T794I probably damaging Het
Setd4 A G 16: 93,593,295 L82P probably damaging Het
Shank2 C T 7: 144,285,047 L27F possibly damaging Het
Srpk2 A C 5: 23,545,570 V45G probably damaging Het
Utrn A G 10: 12,751,559 F57S probably damaging Het
Vcan T G 13: 89,703,077 T1255P probably damaging Het
Vmn2r16 A C 5: 109,339,810 H183P probably damaging Het
Wdr48 T C 9: 119,909,535 I286T probably benign Het
Other mutations in Proser1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Proser1 APN 3 53478830 missense probably benign 0.00
IGL02260:Proser1 APN 3 53478944 missense probably damaging 1.00
IGL02943:Proser1 APN 3 53479103 missense probably damaging 0.98
donatello UTSW 3 53467151 missense probably damaging 1.00
R0166:Proser1 UTSW 3 53480617 missense possibly damaging 0.89
R0230:Proser1 UTSW 3 53478962 missense probably damaging 0.99
R0579:Proser1 UTSW 3 53467151 missense probably damaging 1.00
R0599:Proser1 UTSW 3 53479064 missense probably benign 0.04
R0616:Proser1 UTSW 3 53474697 missense probably damaging 0.98
R0622:Proser1 UTSW 3 53477860 missense probably benign 0.22
R0629:Proser1 UTSW 3 53479064 missense probably benign 0.04
R0707:Proser1 UTSW 3 53478776 missense probably damaging 1.00
R1568:Proser1 UTSW 3 53477759 missense possibly damaging 0.54
R1997:Proser1 UTSW 3 53478871 missense probably benign 0.10
R2129:Proser1 UTSW 3 53477945 missense probably benign 0.20
R2207:Proser1 UTSW 3 53478391 missense probably benign 0.00
R2851:Proser1 UTSW 3 53480545 missense probably benign 0.07
R4077:Proser1 UTSW 3 53478541 missense probably damaging 1.00
R4093:Proser1 UTSW 3 53479712 critical splice donor site probably null
R4970:Proser1 UTSW 3 53464306 missense probably damaging 1.00
R4988:Proser1 UTSW 3 53479625 missense probably damaging 0.98
R5611:Proser1 UTSW 3 53478875 missense probably benign 0.10
R6090:Proser1 UTSW 3 53478667 missense probably benign 0.00
R6146:Proser1 UTSW 3 53478119 missense probably damaging 1.00
R6459:Proser1 UTSW 3 53478329 missense possibly damaging 0.51
R6880:Proser1 UTSW 3 53477839 missense probably benign
Posted On2015-04-16