Incidental Mutation 'YA93:Grsf1'
ID 80
Institutional Source Beutler Lab
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 # YA93 of strain inept
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 88807307-88824030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88821594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 157 (P157S)
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: P157S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221
AA Change: P157S

DomainStartEndE-ValueType
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: P40S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221
AA Change: P40S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
internal_repeat_1 2 33 5.45e-5 PROSPERO
RRM 52 123 1.79e-11 SMART
Meta Mutation Damage Score 0.6513 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 81.3%
Validation Efficiency 88% (101/115)
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 C T 1: 34,771,298 (GRCm39) R1202W probably benign Het
B4galnt4 T A 7: 140,647,324 (GRCm39) I358K possibly damaging Homo
Ccdc168 A G 1: 44,104,245 (GRCm39) probably benign Het
Chodl A G 16: 78,738,170 (GRCm39) H46R probably benign Homo
Cubn C A 2: 13,388,803 (GRCm39) R1468L probably benign Het
Dlg5 G A 14: 24,205,201 (GRCm39) probably benign Het
Dntt A C 19: 41,041,626 (GRCm39) M437L probably benign Het
Lct C T 1: 128,229,057 (GRCm39) G812D probably damaging Het
Osbpl5 T A 7: 143,247,607 (GRCm39) I720F probably benign Homo
Pbld2 T A 10: 62,890,224 (GRCm39) Y211N possibly damaging Het
Peg3 T A 7: 6,714,646 (GRCm39) E192V probably damaging Het
Ptbp3 T C 4: 59,524,413 (GRCm39) T38A possibly damaging Het
Rpap3 T A 15: 97,591,114 (GRCm39) E241V possibly damaging Het
Scara3 C A 14: 66,168,398 (GRCm39) M406I probably damaging Het
Serpinf2 C A 11: 75,323,510 (GRCm39) V399L 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
IGL02881:Grsf1 APN 5 88,821,689 (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
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 529 of the Grsf1 transcript in exon 3 of 11 total exons. Two transcripts of the Grsf1 gene are displayed on Ensembl. The mutated nucleotide causes a proline to serine substitution at amino acid 157 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Grsf1 gene encodes a 479 amino acid protein known as G-rich sequence factor 1 (GRSF-1) that binds RNAs containing a 14 base G-rich element. GRSF1 contains three RNA recognition motifs (RRM) domains at amino acids 149-245, 249-325, 400-479, and 55-113 (Uniprot Q8C5Q4).
 
The P157S change occurs in the first RRM domain and is predicted to be probably damaging by the PolyPhen program.
Posted On 2010-03-01