Incidental Mutation 'IGL02108:Grsf1'
ID280049
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 #IGL02108
Quality Score
Status
Chromosome5
Chromosomal Location88659448-88676171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 88665903 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 329 (R329Q)
Ref Sequence ENSEMBL: ENSMUSP00000077972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078945] [ENSMUST00000113234] [ENSMUST00000153565]
Predicted Effect probably benign
Transcript: ENSMUST00000078945
AA Change: R329Q

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221
AA Change: R329Q

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 benign
Transcript: ENSMUST00000113234
AA Change: R212Q

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221
AA Change: R212Q

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: ENSMUST00000153565
AA Change: R131Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000123051
Gene: ENSMUSG00000044221
AA Change: R131Q

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccdc190 A G 1: 169,933,986 D219G probably damaging Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Cecr2 G A 6: 120,762,558 probably null Het
Chid1 A T 7: 141,532,928 M1K probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Gpihbp1 T C 15: 75,597,612 V92A probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Lcn2 A T 2: 32,387,605 L124Q probably damaging Het
Mbl1 T C 14: 41,153,651 S21P possibly damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Odf1 C A 15: 38,226,379 Y174* probably null Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Pde9a G A 17: 31,461,693 S316N probably benign Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tmem127 T A 2: 127,257,106 S132T probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P probably damaging 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
IGL02116:Grsf1 APN 5 88670174 critical splice donor site probably null
IGL02713:Grsf1 APN 5 88672730 missense probably damaging 1.00
IGL02881:Grsf1 APN 5 88673830 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 intron 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
R7921: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 On2015-04-16