Incidental Mutation 'IGL03193:Gse1'
ID 412726
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 # IGL03193
Quality Score
Status
Chromosome 8
Chromosomal Location 120955233-121308122 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 121298079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034279] [ENSMUST00000118136] [ENSMUST00000120493] [ENSMUST00000127664]
AlphaFold Q3U3C9
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: 60,379,137 (GRCm39) noncoding transcript Het
Arhgef12 T C 9: 42,903,829 (GRCm39) probably benign Het
Bmper C A 9: 23,277,544 (GRCm39) H211Q possibly damaging Het
C130074G19Rik A T 1: 184,614,899 (GRCm39) L97Q probably damaging Het
Csmd3 A T 15: 47,492,626 (GRCm39) probably benign Het
Cyb561a3 T C 19: 10,559,764 (GRCm39) Y30H probably benign Het
Cyp2a22 T A 7: 26,635,846 (GRCm39) D239V probably benign Het
Fras1 A T 5: 96,925,965 (GRCm39) Y3723F probably damaging Het
Frem1 C T 4: 82,912,263 (GRCm39) probably benign Het
Gm382 G A X: 125,971,321 (GRCm39) A1169T probably damaging Het
Golga2 T C 2: 32,195,020 (GRCm39) L696P probably damaging Het
Herc1 T C 9: 66,309,962 (GRCm39) L1104P probably benign Het
Myh14 A G 7: 44,279,369 (GRCm39) V945A possibly damaging Het
Myo7a A G 7: 97,740,264 (GRCm39) F577L probably damaging Het
Ndst2 A T 14: 20,779,917 (GRCm39) S108T probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Neo1 T C 9: 58,815,767 (GRCm39) Y836C probably damaging Het
Nlrp4e T C 7: 23,020,251 (GRCm39) L246P probably damaging Het
Or52n2 A G 7: 104,542,263 (GRCm39) C191R probably benign Het
Osbpl9 A G 4: 108,924,163 (GRCm39) S471P possibly damaging Het
Patl1 T A 19: 11,898,204 (GRCm39) D127E possibly damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Prlr T A 15: 10,328,376 (GRCm39) S284T possibly damaging Het
Prps2 A T X: 166,157,080 (GRCm39) N75K possibly damaging Het
Sec16b A T 1: 157,362,963 (GRCm39) M265L probably benign Het
Slc9a2 G T 1: 40,795,431 (GRCm39) V511L probably benign Het
Tm9sf5 A G X: 56,463,503 (GRCm39) probably benign Het
Tnp1 G A 1: 73,054,923 (GRCm39) R34W probably damaging Het
Tpr A G 1: 150,315,831 (GRCm39) D2036G possibly damaging Het
Trpm6 T C 19: 18,803,236 (GRCm39) V893A possibly damaging Het
Tshb T C 3: 102,685,515 (GRCm39) Y38C probably damaging Het
Usp17lb A T 7: 104,490,484 (GRCm39) S148T possibly damaging Het
Other mutations in Gse1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Gse1 APN 8 121,280,326 (GRCm39) start codon destroyed probably null 0.79
IGL02484:Gse1 APN 8 121,302,001 (GRCm39) intron probably benign
IGL02931:Gse1 APN 8 121,304,808 (GRCm39) intron probably benign
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 2016-08-02