Incidental Mutation 'IGL01612:Gtsf2'
ID 92157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtsf2
Ensembl Gene ENSMUSG00000053508
Gene Name gametocyte specific factor 2
Synonyms BC048502
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL01612
Quality Score
Status
Chromosome 15
Chromosomal Location 103347384-103356896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103353340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 9 (C9S)
Ref Sequence ENSEMBL: ENSMUSP00000068158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065978] [ENSMUST00000229158]
AlphaFold Q80Y74
Predicted Effect probably damaging
Transcript: ENSMUST00000065978
AA Change: C9S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068158
Gene: ENSMUSG00000053508
AA Change: C9S

DomainStartEndE-ValueType
Pfam:zf-U11-48K 8 30 1.3e-14 PFAM
Pfam:zf-U11-48K 40 63 2.9e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000229158
AA Change: C9S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with normal testes morphology and spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,381,988 (GRCm39) T1326A possibly damaging Het
Afg3l1 C T 8: 124,221,592 (GRCm39) R484C probably benign Het
Atg2a C A 19: 6,302,514 (GRCm39) Q946K probably benign Het
Cdh20 T C 1: 104,921,895 (GRCm39) Y731H probably benign Het
Cdk15 A G 1: 59,328,932 (GRCm39) D282G possibly damaging Het
Ctnnd2 T C 15: 31,005,164 (GRCm39) S1073P probably damaging Het
Dnah2 T C 11: 69,355,889 (GRCm39) probably benign Het
Evi2a T A 11: 79,417,978 (GRCm39) R211W probably damaging Het
Fmo1 T A 1: 162,661,168 (GRCm39) I372F probably benign Het
Glyctk T C 9: 106,032,471 (GRCm39) D514G probably damaging Het
Gmnc G A 16: 26,779,069 (GRCm39) Q313* probably null Het
Grik1 T C 16: 87,743,623 (GRCm39) T520A probably damaging Het
Ift80 T G 3: 68,870,996 (GRCm39) N200T possibly damaging Het
Ints1 A G 5: 139,742,047 (GRCm39) S1771P probably benign Het
Lrba A G 3: 86,683,484 (GRCm39) T2769A possibly damaging Het
Lrfn2 G T 17: 49,377,425 (GRCm39) V169L possibly damaging Het
Mei1 G A 15: 81,973,753 (GRCm39) R80H probably damaging Het
Nbeal2 A T 9: 110,473,746 (GRCm39) V31E probably damaging Het
Ncapd2 G T 6: 125,154,835 (GRCm39) P546T probably benign Het
Or52l1 A G 7: 104,829,929 (GRCm39) V212A probably damaging Het
Pan3 T C 5: 147,390,052 (GRCm39) probably benign Het
Rab3b T A 4: 108,781,223 (GRCm39) probably null Het
Rabl2 T C 15: 89,467,615 (GRCm39) K119E probably benign Het
Reln A G 5: 22,101,928 (GRCm39) V3334A probably damaging Het
Rfx1 A G 8: 84,819,601 (GRCm39) probably null Het
Rhod T C 19: 4,476,247 (GRCm39) Y168C probably damaging Het
Sag T C 1: 87,733,071 (GRCm39) I13T probably damaging Het
Sat2 T C 11: 69,513,789 (GRCm39) probably null Het
Scn5a A T 9: 119,315,091 (GRCm39) D1872E possibly damaging Het
Sh2b2 T G 5: 136,260,656 (GRCm39) I187L probably benign Het
Slit3 G A 11: 35,591,211 (GRCm39) G1341D possibly damaging Het
Tmed11 A T 5: 108,927,750 (GRCm39) S95T possibly damaging Het
Tmem186 A G 16: 8,453,733 (GRCm39) V176A possibly damaging Het
Trim12c A T 7: 103,997,422 (GRCm39) S45T possibly damaging Het
Ube4b C A 4: 149,468,275 (GRCm39) R167L probably damaging Het
Zfp335 A T 2: 164,752,540 (GRCm39) probably null Het
Other mutations in Gtsf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0504:Gtsf2 UTSW 15 103,352,988 (GRCm39) missense probably damaging 1.00
R1300:Gtsf2 UTSW 15 103,352,780 (GRCm39) missense possibly damaging 0.79
R1469:Gtsf2 UTSW 15 103,349,644 (GRCm39) missense probably benign 0.34
R1469:Gtsf2 UTSW 15 103,349,644 (GRCm39) missense probably benign 0.34
R2113:Gtsf2 UTSW 15 103,348,100 (GRCm39) missense probably benign 0.01
R4964:Gtsf2 UTSW 15 103,352,755 (GRCm39) missense possibly damaging 0.55
R4966:Gtsf2 UTSW 15 103,352,755 (GRCm39) missense possibly damaging 0.55
R5228:Gtsf2 UTSW 15 103,353,042 (GRCm39) missense probably damaging 1.00
R5867:Gtsf2 UTSW 15 103,348,063 (GRCm39) missense probably benign 0.41
R8925:Gtsf2 UTSW 15 103,352,783 (GRCm39) missense probably benign
R8927:Gtsf2 UTSW 15 103,352,783 (GRCm39) missense probably benign
R9361:Gtsf2 UTSW 15 103,348,066 (GRCm39) nonsense probably null
Posted On 2013-12-09