Incidental Mutation 'R1742:Gse1'
ID 200428
Institutional Source Beutler Lab
Gene Symbol Gse1
Ensembl Gene ENSMUSG00000031822
Gene Name genetic suppressor element 1, coiled-coil protein
Synonyms
MMRRC Submission 039774-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R1742 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 120955233-121308122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121293689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 205 (V205E)
Ref Sequence ENSEMBL: ENSMUSP00000113577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034279] [ENSMUST00000118136] [ENSMUST00000120493] [ENSMUST00000127664]
AlphaFold Q3U3C9
Predicted Effect probably damaging
Transcript: ENSMUST00000034279
AA Change: V218E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: V218E

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 damaging
Transcript: ENSMUST00000118136
AA Change: V208E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: V208E

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 damaging
Transcript: ENSMUST00000120493
AA Change: V205E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: V205E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211997
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 C A 18: 36,758,318 (GRCm39) A1004E probably damaging Het
Arfgef2 A G 2: 166,708,900 (GRCm39) S1071G probably damaging Het
Arhgef5 T A 6: 43,257,133 (GRCm39) I1228N probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bptf A G 11: 107,001,777 (GRCm39) V445A probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Bves C T 10: 45,223,961 (GRCm39) T207M probably damaging Het
Ccdc171 T A 4: 83,599,521 (GRCm39) S779T probably damaging Het
Ccdc54 T C 16: 50,410,601 (GRCm39) K222E possibly damaging Het
Cebpe A G 14: 54,949,057 (GRCm39) V120A probably benign Het
Clhc1 T A 11: 29,507,647 (GRCm39) probably null Het
Col22a1 C T 15: 71,673,762 (GRCm39) G985S unknown Het
Col6a3 T A 1: 90,741,516 (GRCm39) I639F probably damaging Het
Cryga C A 1: 65,142,280 (GRCm39) V38L probably benign Het
Dll3 T C 7: 27,993,848 (GRCm39) T530A probably benign Het
Dnaaf9 A T 2: 130,582,315 (GRCm39) probably null Het
Dnah7a G A 1: 53,495,843 (GRCm39) P3205S probably benign Het
Dpp10 T A 1: 123,372,935 (GRCm39) Y224F probably damaging Het
Eif1ad10 C T 12: 88,216,453 (GRCm39) D140N unknown Het
Fcrl2 T C 3: 87,166,350 (GRCm39) T142A possibly damaging Het
Fyttd1 C T 16: 32,725,923 (GRCm39) R175* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gpr33 T C 12: 52,071,045 (GRCm39) probably null Het
Herc4 C A 10: 63,123,728 (GRCm39) N461K probably benign Het
Ifi206 G A 1: 173,309,537 (GRCm39) T153I probably benign Het
Iqca1 T C 1: 90,025,773 (GRCm39) I341V probably benign Het
Itsn1 T G 16: 91,613,847 (GRCm39) probably null Het
Kcnk5 T A 14: 20,191,925 (GRCm39) Y412F probably benign Het
Lemd1 T A 1: 132,156,036 (GRCm39) I26K probably damaging Het
Lipc A T 9: 70,727,811 (GRCm39) L12Q probably damaging Het
Lrrtm1 C A 6: 77,221,074 (GRCm39) P177Q probably damaging Het
Mcph1 G A 8: 18,657,379 (GRCm39) G73R probably benign Het
Msantd5f6 T C 4: 73,319,447 (GRCm39) D99G probably damaging Het
Myh11 A T 16: 14,037,908 (GRCm39) L899Q probably damaging Het
Myo18a G T 11: 77,732,293 (GRCm39) R822L probably damaging Het
Nav3 T C 10: 109,605,074 (GRCm39) T1000A probably benign Het
Nox4 T C 7: 86,945,026 (GRCm39) V94A possibly damaging Het
Or10ag53 T A 2: 87,083,122 (GRCm39) N280K probably benign Het
Or4c123 G T 2: 89,126,768 (GRCm39) P282H probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Oxr1 T C 15: 41,713,955 (GRCm39) L679P probably damaging Het
Pcdhb17 T C 18: 37,619,629 (GRCm39) I473T probably damaging Het
Pgbd5 T A 8: 125,107,046 (GRCm39) E165D probably damaging Het
Pgpep1l A T 7: 67,886,802 (GRCm39) V169D probably damaging Het
Phf12 C T 11: 77,900,312 (GRCm39) T136I probably benign Het
Pif1 T A 9: 65,495,132 (GRCm39) M14K probably benign Het
Pigr A G 1: 130,772,823 (GRCm39) E347G probably damaging Het
Plekha3 G A 2: 76,513,223 (GRCm39) E103K possibly damaging Het
Ptgs2 A G 1: 149,980,150 (GRCm39) I363V probably damaging Het
Rasl11a T A 5: 146,783,805 (GRCm39) probably null Het
Recql T C 6: 142,310,298 (GRCm39) T511A probably damaging Het
Rgl2 T A 17: 34,156,197 (GRCm39) probably null Het
Rpp25l T C 4: 41,712,763 (GRCm39) Y4C probably damaging Het
Sass6 T G 3: 116,401,126 (GRCm39) C156G probably damaging Het
Sgta T G 10: 80,882,111 (GRCm39) N288T probably damaging Het
Slco1a4 T A 6: 141,770,771 (GRCm39) T282S probably benign Het
Smad4 T C 18: 73,808,968 (GRCm39) R100G probably damaging Het
Sox8 C T 17: 25,786,915 (GRCm39) V263M probably damaging Het
Sp8 A G 12: 118,813,552 (GRCm39) H469R probably benign Het
Spata1 A T 3: 146,175,378 (GRCm39) probably null Het
Taar7a G A 10: 23,869,117 (GRCm39) S88F probably damaging Het
Tnks2 T C 19: 36,853,661 (GRCm39) L749S probably damaging Het
Tollip C A 7: 141,446,592 (GRCm39) R19L probably damaging Het
Tox2 G A 2: 163,067,446 (GRCm39) R55H probably benign Het
Vmn2r27 T C 6: 124,177,636 (GRCm39) E456G possibly damaging Het
Vmn2r77 T A 7: 86,444,543 (GRCm39) N65K probably benign Het
Vwf T C 6: 125,644,513 (GRCm39) M2456T probably benign Het
Zfp526 A G 7: 24,923,939 (GRCm39) N66S possibly damaging Het
Zic1 T C 9: 91,243,629 (GRCm39) Y446C probably 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCTGAGAGTTTGCACTGGCAGAG -3'
(R):5'- ACAGATTAGCACACAGGGCAGC -3'

Sequencing Primer
(F):5'- TGAGACAGACTTATCAGGTGTCC -3'
(R):5'- GGACGCCTCACCTGAAG -3'
Posted On 2014-05-23