Incidental Mutation 'R0541:Gtsf1'
ID 49939
Institutional Source Beutler Lab
Gene Symbol Gtsf1
Ensembl Gene ENSMUSG00000022487
Gene Name gametocyte specific factor 1
Synonyms Cue110, 1700006H03Rik
MMRRC Submission 038733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0541 (G1)
Quality Score 141
Status Validated
Chromosome 15
Chromosomal Location 103310885-103338872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103329619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 100 (V100E)
Ref Sequence ENSEMBL: ENSMUSP00000114733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023129] [ENSMUST00000123724] [ENSMUST00000129837] [ENSMUST00000136480] [ENSMUST00000141364] [ENSMUST00000146675] [ENSMUST00000147389] [ENSMUST00000153930]
AlphaFold Q9DAN6
Predicted Effect probably benign
Transcript: ENSMUST00000023129
AA Change: V81E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000023129
Gene: ENSMUSG00000022487
AA Change: V81E

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 8.6e-15 PFAM
Pfam:zf-U11-48K 47 73 6.4e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123724
AA Change: V100E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114733
Gene: ENSMUSG00000022487
AA Change: V100E

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 benign
Transcript: ENSMUST00000129837
AA Change: V81E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000115123
Gene: ENSMUSG00000022487
AA Change: V81E

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 benign
Transcript: ENSMUST00000136480
AA Change: V81E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000116366
Gene: ENSMUSG00000022487
AA Change: V81E

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 benign
Transcript: ENSMUST00000141364
AA Change: V81E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000119234
Gene: ENSMUSG00000022487
AA Change: V81E

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 benign
Transcript: ENSMUST00000146675
AA Change: V81E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000122193
Gene: ENSMUSG00000022487
AA Change: V81E

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 benign
Transcript: ENSMUST00000147389
AA Change: V81E

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120797
Gene: ENSMUSG00000022487
AA Change: V81E

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 3.6e-14 PFAM
Pfam:zf-U11-48K 47 73 2.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153930
AA Change: V81E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000114244
Gene: ENSMUSG00000022487
AA Change: V81E

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 8.6e-15 PFAM
Pfam:zf-U11-48K 47 73 6.4e-14 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000146736
AA Change: V107E
SMART Domains Protein: ENSMUSP00000115670
Gene: ENSMUSG00000022487
AA Change: V107E

DomainStartEndE-ValueType
Pfam:zf-U11-48K 41 65 4e-13 PFAM
Pfam:zf-U11-48K 75 99 1.2e-11 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,872 (GRCm39) M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,227 (GRCm39) probably null Het
Abca7 C T 10: 79,843,185 (GRCm39) A1220V probably benign Het
Adamts19 G A 18: 59,060,372 (GRCm39) probably null Het
Agbl1 G A 7: 76,058,993 (GRCm39) V194M probably benign Het
Arhgap20 G T 9: 51,760,963 (GRCm39) S902I probably damaging Het
Atp11b T G 3: 35,861,093 (GRCm39) D193E probably damaging Het
B3gntl1 A T 11: 121,535,430 (GRCm39) probably benign Het
C2cd2 T C 16: 97,723,496 (GRCm39) E7G possibly damaging Het
Camta2 A G 11: 70,572,447 (GRCm39) L259P probably benign Het
Ccni T C 5: 93,335,563 (GRCm39) N192D probably benign Het
Cgnl1 A G 9: 71,558,535 (GRCm39) I946T possibly damaging Het
Chil3 T C 3: 106,068,548 (GRCm39) probably null Het
Cntn5 A G 9: 9,673,407 (GRCm39) probably benign Het
Cpn2 C T 16: 30,078,169 (GRCm39) G511S possibly damaging Het
Dagla C A 19: 10,232,170 (GRCm39) probably null Het
Dcc T C 18: 71,392,086 (GRCm39) N1440S probably damaging Het
Drosha T A 15: 12,907,474 (GRCm39) N1069K probably benign Het
Edc4 A G 8: 106,616,060 (GRCm39) T812A probably benign Het
Eml4 A G 17: 83,747,471 (GRCm39) I238V probably benign Het
Ep400 T C 5: 110,852,882 (GRCm39) T1288A unknown Het
Fastkd1 A C 2: 69,532,750 (GRCm39) L539R probably damaging Het
Fbln7 G A 2: 128,719,454 (GRCm39) probably benign Het
Fbxo39 A G 11: 72,209,297 (GRCm39) I386V probably benign Het
Gm17430 T C 18: 9,726,267 (GRCm39) K135R probably damaging Het
Gm3646 T A 1: 39,843,483 (GRCm39) T8S unknown Het
Helz2 A G 2: 180,876,618 (GRCm39) F1292S possibly damaging Het
Igf2bp3 G A 6: 49,084,401 (GRCm39) probably benign Het
Ip6k2 T G 9: 108,681,826 (GRCm39) D252E probably damaging Het
Iqck T A 7: 118,514,817 (GRCm39) L232Q probably damaging Het
Kif18b A G 11: 102,806,001 (GRCm39) V186A probably damaging Het
Klhl6 T A 16: 19,768,197 (GRCm39) probably null Het
Lao1 C T 4: 118,820,999 (GRCm39) T75I probably benign Het
Lyst T C 13: 13,855,878 (GRCm39) F2400L probably benign Het
Map3k9 A T 12: 81,780,997 (GRCm39) S388T possibly damaging Het
Mmp11 G T 10: 75,762,767 (GRCm39) H229N probably damaging Het
Myh7 T G 14: 55,212,158 (GRCm39) I1529L probably benign Het
Nckap5 G T 1: 126,623,459 (GRCm39) D11E possibly damaging Het
Ncoa1 A T 12: 4,373,033 (GRCm39) F123I probably damaging Het
Nelfb A T 2: 25,093,992 (GRCm39) D385E probably benign Het
Obscn C T 11: 58,972,810 (GRCm39) V2288M probably damaging Het
Or2f1b A G 6: 42,739,154 (GRCm39) H56R probably damaging Het
Or4d6 C T 19: 12,086,884 (GRCm39) V9M possibly damaging Het
Or52x1 A T 7: 104,853,367 (GRCm39) M61K probably damaging Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Otog T A 7: 45,918,673 (GRCm39) probably benign Het
Oxa1l A G 14: 54,605,646 (GRCm39) E375G possibly damaging Het
Pan2 T A 10: 128,144,091 (GRCm39) I129K possibly damaging Het
Parp1 A G 1: 180,426,616 (GRCm39) I919M probably benign Het
Pnpla7 T C 2: 24,885,305 (GRCm39) Y174H probably damaging Het
Polr3b T C 10: 84,473,928 (GRCm39) F169S probably damaging Het
Rab10 T C 12: 3,314,743 (GRCm39) D45G probably damaging Het
Reln A G 5: 22,185,107 (GRCm39) S1537P possibly damaging Het
Sema6d T A 2: 124,507,197 (GRCm39) S1045T probably benign Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Spidr T A 16: 15,733,229 (GRCm39) I589F probably damaging Het
Stmn4 A C 14: 66,595,388 (GRCm39) I165L probably benign Het
Stx5a T C 19: 8,727,301 (GRCm39) M177T probably damaging Het
Tll1 T C 8: 64,491,486 (GRCm39) probably null Het
Tmem192 T C 8: 65,416,912 (GRCm39) Y168H probably damaging Het
Ttc21a C T 9: 119,785,892 (GRCm39) probably benign Het
Ush2a A G 1: 188,446,663 (GRCm39) probably benign Het
Vezf1 A G 11: 87,972,403 (GRCm39) M255V possibly damaging Het
Vmn2r25 A G 6: 123,816,786 (GRCm39) F265S probably damaging Het
Vps13a A G 19: 16,681,941 (GRCm39) S1021P probably benign Het
Wfdc16 T C 2: 164,477,773 (GRCm39) E92G possibly damaging Het
Zkscan2 T C 7: 123,079,423 (GRCm39) T845A possibly damaging Het
Other mutations in Gtsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1194:Gtsf1 UTSW 15 103,333,901 (GRCm39) missense probably damaging 1.00
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'- CTGTTCAGAAGAGAAAGCAGTCTGACC -3'
(R):5'- TGCCACCACACCTGAGATATAAACTTG -3'

Sequencing Primer
(F):5'- CCTATATAGAAGCTAACAACCCACTG -3'
(R):5'- GGCTACTTGTCCCTTCAATGCT -3'
Posted On 2013-06-12