Incidental Mutation 'IGL03193:Gse1'
ID412726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gse1
Ensembl Gene ENSMUSG00000031822
Gene Namegenetic suppressor element 1, coiled-coil protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.166) question?
Stock #IGL03193
Quality Score
Status
Chromosome8
Chromosomal Location120228456-120581390 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 120571340 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034279] [ENSMUST00000118136] [ENSMUST00000120493] [ENSMUST00000127664]
Predicted Effect probably null
Transcript: ENSMUST00000034279
SMART Domains Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
Pfam:DUF3736 81 216 2.9e-21 PFAM
coiled coil region 329 414 N/A INTRINSIC
Pfam:DUF3736 742 883 9.7e-46 PFAM
low complexity region 959 973 N/A INTRINSIC
low complexity region 1103 1124 N/A INTRINSIC
coiled coil region 1133 1207 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118136
SMART Domains Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822

DomainStartEndE-ValueType
low complexity region 51 63 N/A INTRINSIC
Pfam:DUF3736 70 203 2.2e-39 PFAM
low complexity region 204 211 N/A INTRINSIC
coiled coil region 319 404 N/A INTRINSIC
Pfam:DUF3736 731 874 7.5e-48 PFAM
low complexity region 949 963 N/A INTRINSIC
low complexity region 1093 1114 N/A INTRINSIC
coiled coil region 1123 1197 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000120493
SMART Domains Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822

DomainStartEndE-ValueType
low complexity region 48 60 N/A INTRINSIC
Pfam:DUF3736 67 200 2.2e-39 PFAM
low complexity region 201 208 N/A INTRINSIC
coiled coil region 316 401 N/A INTRINSIC
Pfam:DUF3736 728 871 7.5e-48 PFAM
low complexity region 946 960 N/A INTRINSIC
low complexity region 1090 1111 N/A INTRINSIC
coiled coil region 1120 1194 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147327
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530053G22Rik T C 6: 60,402,152 noncoding transcript Het
Arhgef12 T C 9: 42,992,533 probably benign Het
Bmper C A 9: 23,366,248 H211Q possibly damaging Het
C130074G19Rik A T 1: 184,882,702 L97Q probably damaging Het
Csmd3 A T 15: 47,629,230 probably benign Het
Cyb561a3 T C 19: 10,582,400 Y30H probably benign Het
Cyp2a22 T A 7: 26,936,421 D239V probably benign Het
Fras1 A T 5: 96,778,106 Y3723F probably damaging Het
Frem1 C T 4: 82,994,026 probably benign Het
Gm364 A G X: 57,418,143 probably benign Het
Gm382 G A X: 127,063,698 A1169T probably damaging Het
Golga2 T C 2: 32,305,008 L696P probably damaging Het
Herc1 T C 9: 66,402,680 L1104P probably benign Het
Myh14 A G 7: 44,629,945 V945A possibly damaging Het
Myo7a A G 7: 98,091,057 F577L probably damaging Het
Ndst2 A T 14: 20,729,849 S108T probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Neo1 T C 9: 58,908,484 Y836C probably damaging Het
Nlrp4e T C 7: 23,320,826 L246P probably damaging Het
Olfr666 A G 7: 104,893,056 C191R probably benign Het
Osbpl9 A G 4: 109,066,966 S471P possibly damaging Het
Patl1 T A 19: 11,920,840 D127E possibly damaging Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Prlr T A 15: 10,328,290 S284T possibly damaging Het
Prps2 A T X: 167,374,084 N75K possibly damaging Het
Sec16b A T 1: 157,535,393 M265L probably benign Het
Slc9a2 G T 1: 40,756,271 V511L probably benign Het
Tnp1 G A 1: 73,015,764 R34W probably damaging Het
Tpr A G 1: 150,440,080 D2036G possibly damaging Het
Trpm6 T C 19: 18,825,872 V893A possibly damaging Het
Tshb T C 3: 102,778,199 Y38C probably damaging Het
Usp17lb A T 7: 104,841,277 S148T possibly damaging Het
Other mutations in Gse1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Gse1 APN 8 120553587 start codon destroyed probably null 0.79
IGL02484:Gse1 APN 8 120575262 intron probably benign
IGL02931:Gse1 APN 8 120578069 intron probably benign
R0027:Gse1 UTSW 8 120566546 intron probably benign
R0109:Gse1 UTSW 8 120567785 missense probably damaging 1.00
R0257:Gse1 UTSW 8 120572334 intron probably benign
R0967:Gse1 UTSW 8 120570855 intron probably benign
R1395:Gse1 UTSW 8 120574999 intron probably benign
R1480:Gse1 UTSW 8 120572394 intron probably benign
R1532:Gse1 UTSW 8 120568210 intron probably benign
R1649:Gse1 UTSW 8 120578515 intron probably benign
R1728:Gse1 UTSW 8 120568253 intron probably benign
R1742:Gse1 UTSW 8 120566950 missense probably damaging 1.00
R1784:Gse1 UTSW 8 120568253 intron probably benign
R2081:Gse1 UTSW 8 120566480 missense probably damaging 1.00
R2110:Gse1 UTSW 8 120566980 missense probably damaging 1.00
R2974:Gse1 UTSW 8 120570897 intron probably benign
R3615:Gse1 UTSW 8 120572742 intron probably benign
R3616:Gse1 UTSW 8 120572742 intron probably benign
R3857:Gse1 UTSW 8 120571133 intron probably benign
R4201:Gse1 UTSW 8 120567764 missense probably benign 0.39
R4494:Gse1 UTSW 8 120570814 intron probably benign
R4857:Gse1 UTSW 8 120572757 intron probably benign
R4911:Gse1 UTSW 8 120568466 intron probably benign
R5640:Gse1 UTSW 8 120562677 missense possibly damaging 0.65
R5782:Gse1 UTSW 8 120566521 missense probably damaging 1.00
R5980:Gse1 UTSW 8 120229637 intron probably benign
R6090:Gse1 UTSW 8 120571169 intron probably benign
R6156:Gse1 UTSW 8 120489127 missense possibly damaging 0.95
R6191:Gse1 UTSW 8 120553803 critical splice donor site probably null
R6270:Gse1 UTSW 8 120569163 intron probably benign
R6502:Gse1 UTSW 8 120553689 unclassified probably null
R6573:Gse1 UTSW 8 120567797 missense probably damaging 1.00
R6885:Gse1 UTSW 8 120229482 intron probably benign
R6901:Gse1 UTSW 8 120229822 intron probably benign
R6959:Gse1 UTSW 8 120570971 intron probably benign
R7023:Gse1 UTSW 8 120230648 intron probably benign
R7210:Gse1 UTSW 8 120230702 missense unknown
R7263:Gse1 UTSW 8 120574171 missense unknown
R7449:Gse1 UTSW 8 120229711 missense unknown
R7602:Gse1 UTSW 8 120569304 missense unknown
R7627:Gse1 UTSW 8 120572777 missense unknown
R7635:Gse1 UTSW 8 120572895 missense unknown
R7689:Gse1 UTSW 8 120568478 missense unknown
X0026:Gse1 UTSW 8 120568163 nonsense probably null
Z1177:Gse1 UTSW 8 120229852 missense unknown
Posted On2016-08-02