Incidental Mutation 'R6156:Gse1'
ID 489589
Institutional Source Beutler Lab
Gene Symbol Gse1
Ensembl Gene ENSMUSG00000031822
Gene Name genetic suppressor element 1, coiled-coil protein
Synonyms
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R6156 (G1)
Quality Score 175.009
Status Validated
Chromosome 8
Chromosomal Location 120955233-121308122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121215866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 5 (K5E)
Ref Sequence ENSEMBL: ENSMUSP00000034279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034279] [ENSMUST00000127664] [ENSMUST00000180448]
AlphaFold Q3U3C9
Predicted Effect possibly damaging
Transcript: ENSMUST00000034279
AA Change: K5E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: K5E

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 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 probably benign
Transcript: ENSMUST00000180448
Meta Mutation Damage Score 0.0714 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T 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
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
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
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'- ACTGGTTTCTACCCACGGTG -3'
(R):5'- GCGGGAAAGTAACTTCACACCC -3'

Sequencing Primer
(F):5'- GCTCCGGGGATCGCTCTTC -3'
(R):5'- GTAACTTCACACCCGCGCG -3'
Posted On 2017-10-10