Incidental Mutation 'R6434:Gtse1'
ID 518727
Institutional Source Beutler Lab
Gene Symbol Gtse1
Ensembl Gene ENSMUSG00000022385
Gene Name G two S phase expressed protein 1
Synonyms B99, Gtse-1
MMRRC Submission 044572-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6434 (G1)
Quality Score 108.008
Status Validated
Chromosome 15
Chromosomal Location 85743946-85760774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85759370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 626 (T626K)
Ref Sequence ENSEMBL: ENSMUSP00000155552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023019] [ENSMUST00000162491] [ENSMUST00000170629] [ENSMUST00000231074]
AlphaFold Q8R080
Predicted Effect probably benign
Transcript: ENSMUST00000023019
SMART Domains Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386

DomainStartEndE-ValueType
Pfam:NAD_synthase 1 133 7.7e-7 PFAM
Pfam:ThiI 3 79 7.7e-8 PFAM
Pfam:tRNA_Me_trans 5 383 3.4e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160733
SMART Domains Protein: ENSMUSP00000125331
Gene: ENSMUSG00000022386

DomainStartEndE-ValueType
Pfam:tRNA_Me_trans 4 34 8.2e-9 PFAM
Pfam:tRNA_Me_trans 41 104 5.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162491
SMART Domains Protein: ENSMUSP00000125704
Gene: ENSMUSG00000022386

DomainStartEndE-ValueType
Pfam:NAD_synthase 1 88 1.1e-8 PFAM
Pfam:Asn_synthase 1 90 3e-7 PFAM
Pfam:ThiI 3 84 1.6e-10 PFAM
Pfam:tRNA_Me_trans 5 88 2.9e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162601
Predicted Effect probably benign
Transcript: ENSMUST00000170629
AA Change: T626K

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128759
Gene: ENSMUSG00000022385
AA Change: T626K

DomainStartEndE-ValueType
Pfam:GTSE1_N 10 153 3e-62 PFAM
low complexity region 284 301 N/A INTRINSIC
low complexity region 310 321 N/A INTRINSIC
low complexity region 360 372 N/A INTRINSIC
low complexity region 478 497 N/A INTRINSIC
low complexity region 568 593 N/A INTRINSIC
low complexity region 644 653 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229871
Predicted Effect probably benign
Transcript: ENSMUST00000231074
AA Change: T626K

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alcam A C 16: 52,109,190 (GRCm39) probably null Het
Ankle2 A G 5: 110,401,759 (GRCm39) Y807C probably damaging Het
Arhgef26 A C 3: 62,336,335 (GRCm39) M625L probably damaging Het
Aspdh G A 7: 44,116,474 (GRCm39) A86T probably damaging Het
Atl1 G T 12: 70,006,199 (GRCm39) E502* probably null Het
Atp6v1c1 T C 15: 38,677,790 (GRCm39) F105S probably damaging Het
Auh C A 13: 53,083,446 (GRCm39) G17C probably benign Het
Ccdc81 T C 7: 89,525,352 (GRCm39) Y474C probably damaging Het
Ccdc82 T C 9: 13,251,659 (GRCm39) probably benign Het
Ccdc96 T G 5: 36,643,707 (GRCm39) V571G probably damaging Het
Col6a5 C A 9: 105,814,544 (GRCm39) E489D unknown Het
Dchs2 T A 3: 83,176,577 (GRCm39) I845N probably damaging Het
Dnajc11 T C 4: 152,063,751 (GRCm39) V449A probably damaging Het
Ect2 A T 3: 27,193,268 (GRCm39) Y269* probably null Het
Egfr T C 11: 16,819,294 (GRCm39) Y275H probably benign Het
Fan1 T A 7: 64,004,129 (GRCm39) D779V probably damaging Het
Fancm T C 12: 65,123,942 (GRCm39) V200A probably damaging Het
Frem1 A G 4: 82,884,253 (GRCm39) I1214T probably benign Het
Gm3415 T A 5: 146,494,752 (GRCm39) F138L probably benign Het
Herc1 T A 9: 66,393,464 (GRCm39) H4114Q probably damaging Het
Ifi44 T A 3: 151,454,826 (GRCm39) N133I probably benign Het
Ilf3 A G 9: 21,314,447 (GRCm39) probably benign Het
Inpp4a A G 1: 37,437,919 (GRCm39) T593A probably damaging Het
Iqgap2 A T 13: 95,819,441 (GRCm39) W634R possibly damaging Het
Kcnh4 T A 11: 100,641,105 (GRCm39) N448I probably damaging Het
Klhl33 G A 14: 51,130,564 (GRCm39) A310V probably damaging Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lrig2 T C 3: 104,398,863 (GRCm39) K222E possibly damaging Het
Manba G A 3: 135,217,734 (GRCm39) probably null Het
Mga A T 2: 119,754,419 (GRCm39) Q976L probably damaging Het
Mtmr4 A G 11: 87,504,309 (GRCm39) D1086G probably damaging Het
Muc20 A G 16: 32,615,176 (GRCm39) V67A probably benign Het
Myh3 T A 11: 66,973,193 (GRCm39) L97Q probably damaging Het
Nars1 T C 18: 64,640,872 (GRCm39) T195A probably benign Het
Npat A T 9: 53,474,739 (GRCm39) I844L possibly damaging Het
Nrxn3 T C 12: 88,762,285 (GRCm39) F111L probably benign Het
Obp2b T C 2: 25,628,599 (GRCm39) Y118H probably damaging Het
Or5w1 T A 2: 87,486,558 (GRCm39) K236* probably null Het
Or7e170 A T 9: 19,795,141 (GRCm39) Y153* probably null Het
Patj A G 4: 98,379,866 (GRCm39) D215G probably damaging Het
Pex1 T A 5: 3,680,196 (GRCm39) Y979* probably null Het
Septin3 G A 15: 82,163,804 (GRCm39) V54I possibly damaging Het
Shc3 A G 13: 51,603,326 (GRCm39) Y260H probably damaging Het
Simc1 A G 13: 54,674,477 (GRCm39) T942A probably benign Het
Slco1c1 T C 6: 141,493,576 (GRCm39) S371P probably damaging Het
Snrnp200 T A 2: 127,080,574 (GRCm39) I2029N probably damaging Het
Syne1 A G 10: 5,268,422 (GRCm39) V2089A probably benign Het
Syne2 T C 12: 76,088,230 (GRCm39) S5016P probably damaging Het
Tril G C 6: 53,795,493 (GRCm39) D576E probably damaging Het
Tubb2b C T 13: 34,311,561 (GRCm39) A411T probably damaging Het
Ubr4 T C 4: 139,156,949 (GRCm39) Y2325H probably damaging Het
Utp20 A T 10: 88,608,395 (GRCm39) C1547* probably null Het
Utrn A T 10: 12,401,171 (GRCm39) W98R probably damaging Het
Vps35 C T 8: 86,000,124 (GRCm39) D501N possibly damaging Het
Wdr48 T C 9: 119,745,879 (GRCm39) S421P possibly damaging Het
Yju2b A G 8: 84,989,630 (GRCm39) I63T probably damaging Het
Zfp719 C A 7: 43,240,412 (GRCm39) H667N probably damaging Het
Other mutations in Gtse1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Gtse1 APN 15 85,753,018 (GRCm39) missense possibly damaging 0.54
IGL01344:Gtse1 APN 15 85,746,267 (GRCm39) critical splice acceptor site probably null
IGL01541:Gtse1 APN 15 85,759,855 (GRCm39) nonsense probably null
IGL01621:Gtse1 APN 15 85,759,283 (GRCm39) missense probably benign 0.01
IGL01945:Gtse1 APN 15 85,755,748 (GRCm39) missense probably benign 0.00
IGL02193:Gtse1 APN 15 85,746,531 (GRCm39) missense probably benign 0.27
IGL02215:Gtse1 APN 15 85,746,799 (GRCm39) missense possibly damaging 0.92
IGL02494:Gtse1 APN 15 85,751,704 (GRCm39) missense probably damaging 1.00
IGL02879:Gtse1 APN 15 85,753,264 (GRCm39) splice site probably benign
R0009:Gtse1 UTSW 15 85,746,636 (GRCm39) missense probably benign 0.06
R0047:Gtse1 UTSW 15 85,746,579 (GRCm39) missense probably damaging 1.00
R0047:Gtse1 UTSW 15 85,746,579 (GRCm39) missense probably damaging 1.00
R0576:Gtse1 UTSW 15 85,753,252 (GRCm39) missense probably damaging 1.00
R1078:Gtse1 UTSW 15 85,746,508 (GRCm39) missense probably damaging 0.98
R1442:Gtse1 UTSW 15 85,744,303 (GRCm39) splice site probably benign
R1623:Gtse1 UTSW 15 85,751,779 (GRCm39) missense probably benign
R1925:Gtse1 UTSW 15 85,757,939 (GRCm39) missense probably benign 0.00
R1928:Gtse1 UTSW 15 85,746,264 (GRCm39) splice site probably benign
R4565:Gtse1 UTSW 15 85,759,385 (GRCm39) missense probably damaging 0.99
R5170:Gtse1 UTSW 15 85,748,465 (GRCm39) critical splice donor site probably null
R5310:Gtse1 UTSW 15 85,757,993 (GRCm39) missense probably benign 0.04
R5428:Gtse1 UTSW 15 85,746,340 (GRCm39) missense probably benign 0.12
R5748:Gtse1 UTSW 15 85,751,778 (GRCm39) missense probably benign
R5996:Gtse1 UTSW 15 85,748,381 (GRCm39) missense probably benign 0.00
R6179:Gtse1 UTSW 15 85,753,158 (GRCm39) missense possibly damaging 0.95
R6379:Gtse1 UTSW 15 85,748,425 (GRCm39) missense probably benign 0.01
R6381:Gtse1 UTSW 15 85,746,349 (GRCm39) missense probably benign 0.00
R7086:Gtse1 UTSW 15 85,759,750 (GRCm39) missense probably damaging 1.00
R7304:Gtse1 UTSW 15 85,755,748 (GRCm39) missense probably benign 0.00
R7485:Gtse1 UTSW 15 85,752,901 (GRCm39) missense probably benign 0.04
R7580:Gtse1 UTSW 15 85,746,432 (GRCm39) missense probably damaging 1.00
R7856:Gtse1 UTSW 15 85,748,342 (GRCm39) missense probably benign 0.09
R8496:Gtse1 UTSW 15 85,746,283 (GRCm39) missense probably damaging 1.00
R8674:Gtse1 UTSW 15 85,746,376 (GRCm39) missense probably damaging 1.00
R8987:Gtse1 UTSW 15 85,753,109 (GRCm39) missense probably benign 0.00
R9491:Gtse1 UTSW 15 85,755,734 (GRCm39) missense probably damaging 1.00
R9642:Gtse1 UTSW 15 85,751,697 (GRCm39) missense probably damaging 0.98
Z1176:Gtse1 UTSW 15 85,752,947 (GRCm39) missense possibly damaging 0.85
Z1177:Gtse1 UTSW 15 85,759,938 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AAGAGCGATCGTATACGTTTTCC -3'
(R):5'- ATAGAGCTTCAGCCTGTCCC -3'

Sequencing Primer
(F):5'- TTTTCCCCCAGAGCAGAGCTG -3'
(R):5'- TAGAGCTTCAGCCTGTCCCTACTC -3'
Posted On 2018-05-24