Incidental Mutation 'R1194:Gtsf1'
ID 101005
Institutional Source Beutler Lab
Gene Symbol Gtsf1
Ensembl Gene ENSMUSG00000022487
Gene Name gametocyte specific factor 1
Synonyms Cue110, 1700006H03Rik
MMRRC Submission 039266-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1194 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 103310885-103338872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103333901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 25 (I25T)
Ref Sequence ENSEMBL: ENSMUSP00000114244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023129] [ENSMUST00000123724] [ENSMUST00000129837] [ENSMUST00000136480] [ENSMUST00000141364] [ENSMUST00000146675] [ENSMUST00000153930] [ENSMUST00000147389]
AlphaFold Q9DAN6
Predicted Effect probably damaging
Transcript: ENSMUST00000023129
AA Change: I25T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023129
Gene: ENSMUSG00000022487
AA Change: I25T

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 8.6e-15 PFAM
Pfam:zf-U11-48K 47 73 6.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123724
AA Change: I44T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114733
Gene: ENSMUSG00000022487
AA Change: I44T

DomainStartEndE-ValueType
Pfam:zf-U11-48K 33 57 8.5e-14 PFAM
Pfam:zf-U11-48K 67 91 2.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129837
AA Change: I25T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115123
Gene: ENSMUSG00000022487
AA Change: I25T

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 2.4e-14 PFAM
Pfam:zf-U11-48K 47 73 1.8e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136480
AA Change: I25T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116366
Gene: ENSMUSG00000022487
AA Change: I25T

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 8.6e-15 PFAM
Pfam:zf-U11-48K 47 73 6.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141364
AA Change: I25T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119234
Gene: ENSMUSG00000022487
AA Change: I25T

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 8.6e-15 PFAM
Pfam:zf-U11-48K 47 73 6.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146675
AA Change: I25T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122193
Gene: ENSMUSG00000022487
AA Change: I25T

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 8.6e-15 PFAM
Pfam:zf-U11-48K 47 73 6.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153930
AA Change: I25T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114244
Gene: ENSMUSG00000022487
AA Change: I25T

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 8.6e-15 PFAM
Pfam:zf-U11-48K 47 73 6.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147389
AA Change: I25T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120797
Gene: ENSMUSG00000022487
AA Change: I25T

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 3.6e-14 PFAM
Pfam:zf-U11-48K 47 73 2.7e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000146736
AA Change: I51T
SMART Domains Protein: ENSMUSP00000115670
Gene: ENSMUSG00000022487
AA Change: I51T

DomainStartEndE-ValueType
Pfam:zf-U11-48K 41 65 4e-13 PFAM
Pfam:zf-U11-48K 75 99 1.2e-11 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 90.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit male infertility due to arrested male meiosis and apoptosis of male germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,873 (GRCm39) R48G unknown Het
Dock4 T C 12: 40,879,615 (GRCm39) F1533S probably damaging Het
Dsg3 A G 18: 20,658,277 (GRCm39) E296G probably damaging Het
Ehhadh T C 16: 21,580,841 (GRCm39) K717R probably benign Het
Emx2 C T 19: 59,447,984 (GRCm39) Q12* probably null Het
Fubp1 TA T 3: 151,937,606 (GRCm39) probably null Het
Krt78 A G 15: 101,860,221 (GRCm39) S232P probably damaging Het
Myh4 G A 11: 67,146,560 (GRCm39) probably null Het
Nkapl A G 13: 21,652,478 (GRCm39) L45P unknown Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or2m13 T A 16: 19,225,930 (GRCm39) T280S possibly damaging Het
Prkg2 A G 5: 99,119,785 (GRCm39) S445P probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Slc12a1 G A 2: 125,026,687 (GRCm39) V441I probably benign Het
Slc7a15 T A 12: 8,585,772 (GRCm39) T8S probably damaging Het
Spon1 A G 7: 113,486,031 (GRCm39) R194G probably benign Het
Syne2 T C 12: 75,981,287 (GRCm39) Y1531H probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Other mutations in Gtsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0541:Gtsf1 UTSW 15 103,329,619 (GRCm39) missense possibly damaging 0.92
R1424:Gtsf1 UTSW 15 103,318,070 (GRCm39) nonsense probably null
R2264:Gtsf1 UTSW 15 103,328,391 (GRCm39) missense possibly damaging 0.81
R3832:Gtsf1 UTSW 15 103,333,902 (GRCm39) missense probably damaging 1.00
R4666:Gtsf1 UTSW 15 103,329,632 (GRCm39) missense probably benign 0.35
R5514:Gtsf1 UTSW 15 103,336,802 (GRCm39) missense probably benign
R6555:Gtsf1 UTSW 15 103,333,902 (GRCm39) missense probably damaging 1.00
R6820:Gtsf1 UTSW 15 103,328,954 (GRCm39) missense probably benign 0.00
R7087:Gtsf1 UTSW 15 103,333,876 (GRCm39) missense probably damaging 1.00
R7178:Gtsf1 UTSW 15 103,328,388 (GRCm39) missense probably benign 0.22
R7783:Gtsf1 UTSW 15 103,336,996 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- AGTACCACCAAACCCATGTGTGATTG -3'
(R):5'- GTAAGTGAAGCCTCAGTACACCATTCC -3'

Sequencing Primer
(F):5'- TGTGATTGTACATGCCTAGATACTC -3'
(R):5'- tgtttgtttgtttgtttgtttgtttg -3'
Posted On 2014-01-15