Incidental Mutation 'IGL01621:Gtse1'
ID 92603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtse1
Ensembl Gene ENSMUSG00000022385
Gene Name G two S phase expressed protein 1
Synonyms B99, Gtse-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL01621
Quality Score
Status
Chromosome 15
Chromosomal Location 85743946-85760774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85759283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 597 (N597S)
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: N597S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000128759
Gene: ENSMUSG00000022385
AA Change: N597S

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: N597S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H 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
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
R6434:Gtse1 UTSW 15 85,759,370 (GRCm39) missense probably benign 0.21
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
Posted On 2013-12-09