Incidental Mutation 'IGL02881:Grsf1'
ID362805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grsf1
Ensembl Gene ENSMUSG00000044221
Gene NameG-rich RNA sequence binding factor 1
SynonymsD5Wsu31e
Accession Numbers

Genbank: NM_178700; MGI: 106479

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02881
Quality Score
Status
Chromosome5
Chromosomal Location88659448-88676171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88673830 bp
ZygosityHeterozygous
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]
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

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: L8Q

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

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
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: 13,555,999 probably benign Het
Aatf A G 11: 84,471,289 probably benign Het
Asap3 A T 4: 136,239,237 H542L probably benign Het
Cyp4v3 A T 8: 45,308,716 L389H probably damaging Het
Dnah17 C T 11: 118,042,118 E3605K probably damaging Het
Fry C T 5: 150,359,051 T347M probably damaging Het
Glul C A 1: 153,907,116 T191K probably benign Het
Gm6614 T C 6: 141,972,243 R636G probably benign Het
Hfm1 A G 5: 106,874,252 I976T probably damaging Het
Itgb5 A G 16: 33,919,905 T462A probably benign Het
Lmna G T 3: 88,502,926 R60S possibly damaging Het
Mrpl10 T A 11: 97,047,073 V89D probably damaging Het
Muc5b C T 7: 141,857,712 T1465I unknown Het
Myh15 A C 16: 49,117,265 D743A possibly damaging Het
Noxo1 C A 17: 24,699,435 L190I probably damaging Het
Noxo1 T A 17: 24,699,436 L190Q probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1025-ps1 A G 2: 85,918,116 S64G probably benign Het
Olfr1098 A G 2: 86,922,713 V273A possibly damaging Het
Olfr1226 T A 2: 89,193,641 Y131F probably damaging Het
Olfr170 A T 16: 19,606,300 Y123N probably damaging Het
Pfkfb4 A G 9: 109,007,296 T131A probably null Het
Phf20l1 T C 15: 66,594,980 probably null Het
Pnliprp2 A G 19: 58,771,446 D363G probably benign Het
Prpf6 C T 2: 181,632,071 T336I probably benign Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Sae1 T G 7: 16,359,118 K221N probably damaging Het
Slc45a1 T C 4: 150,638,530 K299R probably benign Het
Smad2 C A 18: 76,299,780 probably null Het
Tmem117 T C 15: 94,879,425 F152S probably damaging Het
Tmem232 C T 17: 65,450,370 C276Y probably damaging Het
Tor1b A T 2: 30,953,853 K47* probably null Het
Ttn A G 2: 76,909,803 V3464A probably benign Het
Ube3b A G 5: 114,412,884 T870A possibly damaging Het
Zscan25 T G 5: 145,290,486 L320R probably benign Het
Other mutations in Grsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Grsf1 APN 5 88670278 missense probably damaging 1.00
IGL01505:Grsf1 APN 5 88672749 nonsense probably null
IGL02108:Grsf1 APN 5 88665903 missense probably benign 0.35
IGL02116:Grsf1 APN 5 88670174 critical splice donor site probably null
IGL02713:Grsf1 APN 5 88672730 missense probably damaging 1.00
R0336:Grsf1 UTSW 5 88663153 missense probably damaging 0.96
R1381:Grsf1 UTSW 5 88665864 missense probably benign 0.10
R1398:Grsf1 UTSW 5 88665847 missense probably benign 0.03
R2136:Grsf1 UTSW 5 88672658 missense probably benign 0.05
R2398:Grsf1 UTSW 5 88673836 missense probably damaging 1.00
R4181:Grsf1 UTSW 5 88664156 missense probably benign 0.00
R4182:Grsf1 UTSW 5 88664156 missense probably benign 0.00
R4183:Grsf1 UTSW 5 88664156 missense probably benign 0.00
R4184:Grsf1 UTSW 5 88664156 missense probably benign 0.00
R5315:Grsf1 UTSW 5 88673775 start gained probably benign
R6246:Grsf1 UTSW 5 88662592 missense possibly damaging 0.81
R7359:Grsf1 UTSW 5 88665564 splice site probably null
R7381:Grsf1 UTSW 5 88665807 missense probably benign 0.02
R7430:Grsf1 UTSW 5 88663227 missense possibly damaging 0.67
R7703:Grsf1 UTSW 5 88671291 missense probably damaging 1.00
R7838:Grsf1 UTSW 5 88675664 start gained probably benign
R8013:Grsf1 UTSW 5 88675756 critical splice donor site probably null
YA93:Grsf1 UTSW 5 88673735 missense probably damaging 1.00
Posted On2015-12-18