Incidental Mutation 'IGL02881:Grsf1'
ID 362805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grsf1
Ensembl Gene ENSMUSG00000044221
Gene Name G-rich RNA sequence binding factor 1
Synonyms D5Wsu31e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02881
Quality Score
Chromosome 5
Chromosomal Location 88807307-88824030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88821689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 125 (L125Q)
Ref Sequence ENSEMBL: ENSMUSP00000077972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078945] [ENSMUST00000113234] [ENSMUST00000133532] [ENSMUST00000150438] [ENSMUST00000153565]
AlphaFold Q8C5Q4
Predicted Effect probably damaging
Transcript: ENSMUST00000078945
AA Change: L125Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221
AA Change: L125Q

low complexity region 13 24 N/A INTRINSIC
low complexity region 45 60 N/A INTRINSIC
low complexity region 64 101 N/A INTRINSIC
low complexity region 124 139 N/A INTRINSIC
RRM 150 224 1.65e-6 SMART
RRM 250 321 1.79e-11 SMART
RRM 401 471 1.54e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113234
AA Change: L8Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221
AA Change: L8Q

low complexity region 7 22 N/A INTRINSIC
RRM 33 107 1.65e-6 SMART
RRM 133 204 1.79e-11 SMART
RRM 284 354 1.54e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130408
Predicted Effect probably benign
Transcript: ENSMUST00000133532
SMART Domains Protein: ENSMUSP00000114732
Gene: ENSMUSG00000044221

Blast:RRM 1 26 6e-11 BLAST
PDB:2LMI|A 1 46 3e-26 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137725
Predicted Effect probably benign
Transcript: ENSMUST00000150438
Predicted Effect probably benign
Transcript: ENSMUST00000153565
SMART Domains Protein: ENSMUSP00000123051
Gene: ENSMUSG00000044221

internal_repeat_1 2 33 5.45e-5 PROSPERO
RRM 52 123 1.79e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C A 8: 13,605,999 (GRCm39) probably benign Het
Aatf A G 11: 84,362,115 (GRCm39) probably benign Het
Asap3 A T 4: 135,966,548 (GRCm39) H542L probably benign Het
Cyp4v3 A T 8: 45,761,753 (GRCm39) L389H probably damaging Het
Dnah17 C T 11: 117,932,944 (GRCm39) E3605K probably damaging Het
Fry C T 5: 150,282,516 (GRCm39) T347M probably damaging Het
Glul C A 1: 153,782,862 (GRCm39) T191K probably benign Het
Hfm1 A G 5: 107,022,118 (GRCm39) I976T probably damaging Het
Itgb5 A G 16: 33,740,275 (GRCm39) T462A probably benign Het
Lmna G T 3: 88,410,233 (GRCm39) R60S possibly damaging Het
Mrpl10 T A 11: 96,937,899 (GRCm39) V89D probably damaging Het
Muc5b C T 7: 141,411,449 (GRCm39) T1465I unknown Het
Myh15 A C 16: 48,937,628 (GRCm39) D743A possibly damaging Het
Noxo1 C A 17: 24,918,409 (GRCm39) L190I probably damaging Het
Noxo1 T A 17: 24,918,410 (GRCm39) L190Q probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or2aj5 A T 16: 19,425,050 (GRCm39) Y123N probably damaging Het
Or4c121 T A 2: 89,023,985 (GRCm39) Y131F probably damaging Het
Or5m13 A G 2: 85,748,460 (GRCm39) S64G probably benign Het
Or8h8 A G 2: 86,753,057 (GRCm39) V273A possibly damaging Het
Pfkfb4 A G 9: 108,836,364 (GRCm39) T131A probably null Het
Phf20l1 T C 15: 66,466,829 (GRCm39) probably null Het
Pnliprp2 A G 19: 58,759,878 (GRCm39) D363G probably benign Het
Prpf6 C T 2: 181,273,864 (GRCm39) T336I probably benign Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Sae1 T G 7: 16,093,043 (GRCm39) K221N probably damaging Het
Slc45a1 T C 4: 150,722,987 (GRCm39) K299R probably benign Het
Slco1a8 T C 6: 141,917,969 (GRCm39) R636G probably benign Het
Smad2 C A 18: 76,432,851 (GRCm39) probably null Het
Tmem117 T C 15: 94,777,306 (GRCm39) F152S probably damaging Het
Tmem232 C T 17: 65,757,365 (GRCm39) C276Y probably damaging Het
Tor1b A T 2: 30,843,865 (GRCm39) K47* probably null Het
Ttn A G 2: 76,740,147 (GRCm39) V3464A probably benign Het
Ube3b A G 5: 114,550,945 (GRCm39) T870A possibly damaging Het
Zscan25 T G 5: 145,227,296 (GRCm39) L320R probably benign Het
Other mutations in Grsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Grsf1 APN 5 88,818,137 (GRCm39) missense probably damaging 1.00
IGL01505:Grsf1 APN 5 88,820,608 (GRCm39) nonsense probably null
IGL02108:Grsf1 APN 5 88,813,762 (GRCm39) missense probably benign 0.35
IGL02116:Grsf1 APN 5 88,818,033 (GRCm39) critical splice donor site probably null
IGL02713:Grsf1 APN 5 88,820,589 (GRCm39) missense probably damaging 1.00
R0336:Grsf1 UTSW 5 88,811,012 (GRCm39) missense probably damaging 0.96
R1381:Grsf1 UTSW 5 88,813,723 (GRCm39) missense probably benign 0.10
R1398:Grsf1 UTSW 5 88,813,706 (GRCm39) missense probably benign 0.03
R2136:Grsf1 UTSW 5 88,820,517 (GRCm39) missense probably benign 0.05
R2398:Grsf1 UTSW 5 88,821,695 (GRCm39) missense probably damaging 1.00
R4181:Grsf1 UTSW 5 88,812,015 (GRCm39) missense probably benign 0.00
R4182:Grsf1 UTSW 5 88,812,015 (GRCm39) missense probably benign 0.00
R4183:Grsf1 UTSW 5 88,812,015 (GRCm39) missense probably benign 0.00
R4184:Grsf1 UTSW 5 88,812,015 (GRCm39) missense probably benign 0.00
R5315:Grsf1 UTSW 5 88,821,634 (GRCm39) start gained probably benign
R6246:Grsf1 UTSW 5 88,810,451 (GRCm39) missense possibly damaging 0.81
R7359:Grsf1 UTSW 5 88,813,423 (GRCm39) splice site probably null
R7381:Grsf1 UTSW 5 88,813,666 (GRCm39) missense probably benign 0.02
R7430:Grsf1 UTSW 5 88,811,086 (GRCm39) missense possibly damaging 0.67
R7703:Grsf1 UTSW 5 88,819,150 (GRCm39) missense probably damaging 1.00
R7838:Grsf1 UTSW 5 88,823,523 (GRCm39) start gained probably benign
R8013:Grsf1 UTSW 5 88,823,615 (GRCm39) critical splice donor site probably null
R9334:Grsf1 UTSW 5 88,820,469 (GRCm39) missense probably damaging 0.99
YA93:Grsf1 UTSW 5 88,821,594 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18