Incidental Mutation 'R5640:Gse1'
ID 440610
Institutional Source Beutler Lab
Gene Symbol Gse1
Ensembl Gene ENSMUSG00000031822
Gene Name genetic suppressor element 1, coiled-coil protein
Synonyms
MMRRC Submission 043289-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R5640 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 120955233-121308122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121289416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 90 (H90R)
Ref Sequence ENSEMBL: ENSMUSP00000113577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034279] [ENSMUST00000118136] [ENSMUST00000120493] [ENSMUST00000127664]
AlphaFold Q3U3C9
Predicted Effect possibly damaging
Transcript: ENSMUST00000034279
AA Change: H103R

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: H103R

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 possibly damaging
Transcript: ENSMUST00000118136
AA Change: H93R

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: H93R

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 possibly damaging
Transcript: ENSMUST00000120493
AA Change: H90R

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: H90R

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: ENSMUST00000211997
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,861,511 (GRCm39) Y220C probably damaging Het
Actl6a A G 3: 32,772,199 (GRCm39) T170A probably damaging Het
Adamts8 T C 9: 30,867,796 (GRCm39) V540A probably benign Het
Aga T C 8: 53,964,919 (GRCm39) L27P probably damaging Het
Agmat T A 4: 141,483,134 (GRCm39) H189Q probably damaging Het
Alx3 C A 3: 107,507,977 (GRCm39) T162K probably damaging Het
Armc2 T A 10: 41,887,894 (GRCm39) I30L possibly damaging Het
Atp10d T G 5: 72,404,552 (GRCm39) Y487D probably damaging Het
Atp13a4 C T 16: 29,234,649 (GRCm39) M908I probably damaging Het
B4galt2 T G 4: 117,731,195 (GRCm39) N322T probably benign Het
Bmal1 C T 7: 112,907,888 (GRCm39) P530L probably damaging Het
Brdt A T 5: 107,507,174 (GRCm39) K525* probably null Het
Ccdc168 T C 1: 44,101,087 (GRCm39) I4V probably benign Het
Ces3a T A 8: 105,778,377 (GRCm39) M246K probably benign Het
Chd9 T A 8: 91,763,190 (GRCm39) H2338Q probably damaging Het
Cyp3a16 T A 5: 145,389,633 (GRCm39) D244V possibly damaging Het
Dhrs9 C A 2: 69,224,822 (GRCm39) A170E probably damaging Het
Dlg5 T C 14: 24,220,529 (GRCm39) N550D probably damaging Het
Dnah8 C T 17: 31,022,082 (GRCm39) T3894I probably damaging Het
Dpys T C 15: 39,705,462 (GRCm39) H217R probably damaging Het
Dpysl2 C T 14: 67,071,817 (GRCm39) V108I probably benign Het
Eprs1 A G 1: 185,106,381 (GRCm39) T199A probably benign Het
Fads1 A G 19: 10,163,767 (GRCm39) D183G probably damaging Het
Fam110b T G 4: 5,798,689 (GRCm39) Y36D probably damaging Het
Fbxl21 G A 13: 56,685,194 (GRCm39) D407N probably benign Het
Fuca2 G A 10: 13,383,174 (GRCm39) probably null Het
Gnas C A 2: 174,126,764 (GRCm39) R100S probably benign Het
Hoxc10 G T 15: 102,875,702 (GRCm39) C137F probably benign Het
Ipp T G 4: 116,377,886 (GRCm39) L252R possibly damaging Het
Jmjd1c T A 10: 67,061,857 (GRCm39) S1403R probably benign Het
Kif19a A G 11: 114,670,041 (GRCm39) M79V probably benign Het
Lipo4 T C 19: 33,478,986 (GRCm39) T285A possibly damaging Het
Lrrc66 A T 5: 73,765,977 (GRCm39) D355E probably benign Het
Lrsam1 T A 2: 32,835,864 (GRCm39) Q301L probably benign Het
Med6 C T 12: 81,628,628 (GRCm39) R138Q probably damaging Het
Nlrc5 A G 8: 95,202,421 (GRCm39) T174A probably benign Het
Nrbp1 C T 5: 31,406,929 (GRCm39) R322W possibly damaging Het
Or10ak14 T A 4: 118,610,986 (GRCm39) T250S probably benign Het
Or11g24 C A 14: 50,662,111 (GRCm39) A45D probably benign Het
Or4a47 T A 2: 89,666,282 (GRCm39) E2D probably benign Het
Pde3a A G 6: 141,429,641 (GRCm39) E734G probably damaging Het
Pgap6 C T 17: 26,337,846 (GRCm39) T410I possibly damaging Het
Pnpla7 C T 2: 24,893,013 (GRCm39) T167I possibly damaging Het
Pop7 T C 5: 137,500,321 (GRCm39) N4S possibly damaging Het
Ppm1h C A 10: 122,618,183 (GRCm39) P114Q probably benign Het
Prdm16 T C 4: 154,426,367 (GRCm39) T473A probably benign Het
Prdm6 T C 18: 53,669,813 (GRCm39) probably null Het
Prkdc T G 16: 15,647,633 (GRCm39) W3686G possibly damaging Het
Ptchd4 C A 17: 42,814,026 (GRCm39) H642Q possibly damaging Het
Rad1 A G 15: 10,496,009 (GRCm39) Y228C possibly damaging Het
Rgs22 G A 15: 36,107,101 (GRCm39) T56I probably benign Het
Rnf135 C A 11: 80,084,733 (GRCm39) H169N probably benign Het
Rnft1 C T 11: 86,377,319 (GRCm39) Q128* probably null Het
Sez6 T C 11: 77,864,585 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,649,769 (GRCm39) S125G probably benign Het
Sik2 T C 9: 50,826,806 (GRCm39) E295G possibly damaging Het
Themis A G 10: 28,739,372 (GRCm39) Q614R probably damaging Het
Thsd7b T A 1: 130,044,408 (GRCm39) C1129* probably null Het
Tmem68 A T 4: 3,569,512 (GRCm39) F59L probably benign Het
Vmn2r107 A G 17: 20,595,426 (GRCm39) T660A probably damaging Het
Vwa5b2 G T 16: 20,416,292 (GRCm39) C484F probably damaging Het
Zfp418 T A 7: 7,184,980 (GRCm39) C314* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CATTCACTCAATATGGCCGATCC -3'
(R):5'- GTGGACAGAAAACAGCCTGC -3'

Sequencing Primer
(F):5'- CAGAATGGCTGTGGGTCC -3'
(R):5'- GAAAACAGCCTGCAGGAAC -3'
Posted On 2016-11-08