Incidental Mutation 'IGL02484:Gse1'
ID 295347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gse1
Ensembl Gene ENSMUSG00000031822
Gene Name genetic suppressor element 1, coiled-coil protein
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # IGL02484
Quality Score
Status
Chromosome 8
Chromosomal Location 120955233-121308122 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 121302001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034278] [ENSMUST00000034279] [ENSMUST00000118136] [ENSMUST00000120493] [ENSMUST00000127664]
AlphaFold Q3U3C9
Predicted Effect probably benign
Transcript: ENSMUST00000034278
SMART Domains Protein: ENSMUSP00000034278
Gene: ENSMUSG00000031821

DomainStartEndE-ValueType
Pfam:Sld5 42 153 9.6e-26 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000034279
AA Change: E1037D
SMART Domains Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: E1037D

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 unknown
Transcript: ENSMUST00000118136
AA Change: E1027D
SMART Domains Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: E1027D

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 unknown
Transcript: ENSMUST00000120493
AA Change: E1024D
SMART Domains Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: E1024D

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: ENSMUST00000146526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147327
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,262,777 (GRCm39) noncoding transcript Het
Araf A G X: 20,720,148 (GRCm39) probably benign Het
Arrb2 T A 11: 70,330,300 (GRCm39) V308E probably damaging Het
Asap3 A G 4: 135,956,768 (GRCm39) probably benign Het
Astn2 G A 4: 65,910,516 (GRCm39) probably benign Het
Cactin T A 10: 81,158,808 (GRCm39) I258N probably benign Het
Calhm6 T C 10: 34,002,400 (GRCm39) T228A probably benign Het
Catsperg1 T C 7: 28,910,345 (GRCm39) probably benign Het
Ccna1 C T 3: 54,955,915 (GRCm39) D146N probably benign Het
Chrna3 T C 9: 54,922,821 (GRCm39) Y329C probably damaging Het
Ctps2 G A X: 161,693,005 (GRCm39) G56D probably damaging Het
Cyp4b1 T C 4: 115,504,754 (GRCm39) D44G probably benign Het
D3Ertd751e A G 3: 41,708,155 (GRCm39) probably null Het
Daxx T C 17: 34,131,216 (GRCm39) V381A probably damaging Het
Dhx37 T A 5: 125,496,401 (GRCm39) I714F possibly damaging Het
Dnah7b T C 1: 46,234,478 (GRCm39) V1470A probably damaging Het
Efl1 T C 7: 82,332,247 (GRCm39) I297T probably damaging Het
Fnd3c2 A T X: 105,289,092 (GRCm39) H442Q probably damaging Het
Glp2r A C 11: 67,630,992 (GRCm39) V126G possibly damaging Het
Gm5699 G T 1: 31,037,843 (GRCm39) noncoding transcript Het
Gpt2 A G 8: 86,242,862 (GRCm39) D298G probably damaging Het
Hand1 T C 11: 57,722,420 (GRCm39) T65A probably benign Het
Ints8 G A 4: 11,208,834 (GRCm39) Q955* probably null Het
Lrguk C T 6: 34,069,726 (GRCm39) P534S probably damaging Het
Lrp6 A G 6: 134,518,886 (GRCm39) F60L probably benign Het
Mamld1 T C X: 70,162,258 (GRCm39) I423T possibly damaging Het
Mrpl22 G A 11: 58,063,888 (GRCm39) S36N possibly damaging Het
Mug2 A G 6: 122,049,712 (GRCm39) E915G probably damaging Het
Oosp2 T C 19: 11,628,847 (GRCm39) T85A probably benign Het
Or5b94 T C 19: 12,652,223 (GRCm39) F218S possibly damaging Het
Or5p68 C T 7: 107,945,813 (GRCm39) R125Q probably damaging Het
Pde4c T A 8: 71,200,701 (GRCm39) probably benign Het
Pdxdc1 T C 16: 13,693,945 (GRCm39) E159G possibly damaging Het
Poln T C 5: 34,286,721 (GRCm39) E149G probably damaging Het
Pou5f2 T G 13: 78,174,024 (GRCm39) L322R probably damaging Het
Ppm1k A T 6: 57,501,997 (GRCm39) S55R possibly damaging Het
Ptges2 T A 2: 32,287,719 (GRCm39) I149N probably damaging Het
Pus7l A G 15: 94,427,369 (GRCm39) V471A possibly damaging Het
Raet1e A T 10: 22,056,666 (GRCm39) M81L probably benign Het
Sipa1l3 A G 7: 29,098,956 (GRCm39) S438P probably damaging Het
Skint5 T A 4: 113,799,750 (GRCm39) K126* probably null Het
Stfa2 T C 16: 36,225,569 (GRCm39) T37A probably damaging Het
Ttll12 A G 15: 83,465,897 (GRCm39) I433T possibly damaging Het
Vmn2r32 C T 7: 7,467,116 (GRCm39) G804D probably damaging Het
Zc3h14 A G 12: 98,740,560 (GRCm39) T84A probably benign Het
Other mutations in Gse1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Gse1 APN 8 121,280,326 (GRCm39) start codon destroyed probably null 0.79
IGL02931:Gse1 APN 8 121,304,808 (GRCm39) intron probably benign
IGL03193:Gse1 APN 8 121,298,079 (GRCm39) critical splice donor site probably null
R0027:Gse1 UTSW 8 121,293,285 (GRCm39) intron probably benign
R0109:Gse1 UTSW 8 121,294,524 (GRCm39) missense probably damaging 1.00
R0257:Gse1 UTSW 8 121,299,073 (GRCm39) intron probably benign
R0967:Gse1 UTSW 8 121,297,594 (GRCm39) intron probably benign
R1395:Gse1 UTSW 8 121,301,738 (GRCm39) intron probably benign
R1480:Gse1 UTSW 8 121,299,133 (GRCm39) intron probably benign
R1532:Gse1 UTSW 8 121,294,949 (GRCm39) intron probably benign
R1649:Gse1 UTSW 8 121,305,254 (GRCm39) intron probably benign
R1728:Gse1 UTSW 8 121,294,992 (GRCm39) intron probably benign
R1742:Gse1 UTSW 8 121,293,689 (GRCm39) missense probably damaging 1.00
R1784:Gse1 UTSW 8 121,294,992 (GRCm39) intron probably benign
R2081:Gse1 UTSW 8 121,293,219 (GRCm39) missense probably damaging 1.00
R2110:Gse1 UTSW 8 121,293,719 (GRCm39) missense probably damaging 1.00
R2974:Gse1 UTSW 8 121,297,636 (GRCm39) intron probably benign
R3615:Gse1 UTSW 8 121,299,481 (GRCm39) intron probably benign
R3616:Gse1 UTSW 8 121,299,481 (GRCm39) intron probably benign
R3857:Gse1 UTSW 8 121,297,872 (GRCm39) intron probably benign
R4201:Gse1 UTSW 8 121,294,503 (GRCm39) missense probably benign 0.39
R4494:Gse1 UTSW 8 121,297,553 (GRCm39) intron probably benign
R4857:Gse1 UTSW 8 121,299,496 (GRCm39) intron probably benign
R4911:Gse1 UTSW 8 121,295,205 (GRCm39) intron probably benign
R5640:Gse1 UTSW 8 121,289,416 (GRCm39) missense possibly damaging 0.65
R5782:Gse1 UTSW 8 121,293,260 (GRCm39) missense probably damaging 1.00
R5980:Gse1 UTSW 8 120,956,376 (GRCm39) intron probably benign
R6090:Gse1 UTSW 8 121,297,908 (GRCm39) intron probably benign
R6156:Gse1 UTSW 8 121,215,866 (GRCm39) missense possibly damaging 0.95
R6191:Gse1 UTSW 8 121,280,542 (GRCm39) critical splice donor site probably null
R6270:Gse1 UTSW 8 121,295,902 (GRCm39) intron probably benign
R6502:Gse1 UTSW 8 121,280,428 (GRCm39) splice site probably null
R6573:Gse1 UTSW 8 121,294,536 (GRCm39) missense probably damaging 1.00
R6885:Gse1 UTSW 8 120,956,221 (GRCm39) intron probably benign
R6901:Gse1 UTSW 8 120,956,561 (GRCm39) intron probably benign
R6959:Gse1 UTSW 8 121,297,710 (GRCm39) intron probably benign
R7023:Gse1 UTSW 8 120,957,387 (GRCm39) intron probably benign
R7210:Gse1 UTSW 8 120,957,441 (GRCm39) missense unknown
R7263:Gse1 UTSW 8 121,300,910 (GRCm39) missense unknown
R7449:Gse1 UTSW 8 120,956,450 (GRCm39) missense unknown
R7602:Gse1 UTSW 8 121,296,043 (GRCm39) missense unknown
R7627:Gse1 UTSW 8 121,299,516 (GRCm39) missense unknown
R7635:Gse1 UTSW 8 121,299,634 (GRCm39) missense unknown
R7689:Gse1 UTSW 8 121,295,217 (GRCm39) missense unknown
R8108:Gse1 UTSW 8 120,956,549 (GRCm39) missense unknown
R8326:Gse1 UTSW 8 121,305,319 (GRCm39) missense unknown
R8474:Gse1 UTSW 8 121,295,123 (GRCm39) intron probably benign
R8544:Gse1 UTSW 8 121,280,391 (GRCm39) missense probably damaging 1.00
R8783:Gse1 UTSW 8 121,303,117 (GRCm39) missense unknown
R8817:Gse1 UTSW 8 121,294,542 (GRCm39) missense probably damaging 1.00
R8886:Gse1 UTSW 8 121,297,470 (GRCm39) missense unknown
R8896:Gse1 UTSW 8 121,303,185 (GRCm39) missense unknown
R9044:Gse1 UTSW 8 120,957,269 (GRCm39) missense unknown
R9130:Gse1 UTSW 8 121,295,052 (GRCm39) missense unknown
R9185:Gse1 UTSW 8 121,294,908 (GRCm39) missense possibly damaging 0.95
R9398:Gse1 UTSW 8 121,303,074 (GRCm39) missense unknown
R9430:Gse1 UTSW 8 121,299,049 (GRCm39) missense unknown
R9471:Gse1 UTSW 8 121,301,845 (GRCm39) missense unknown
R9696:Gse1 UTSW 8 120,956,280 (GRCm39) missense unknown
R9797:Gse1 UTSW 8 121,215,864 (GRCm39) missense probably damaging 0.99
X0026:Gse1 UTSW 8 121,294,902 (GRCm39) nonsense probably null
Z1177:Gse1 UTSW 8 120,956,591 (GRCm39) missense unknown
Posted On 2015-04-16