Incidental Mutation 'R5514:Gtsf1'
ID 440264
Institutional Source Beutler Lab
Gene Symbol Gtsf1
Ensembl Gene ENSMUSG00000022487
Gene Name gametocyte specific factor 1
Synonyms Cue110, 1700006H03Rik
MMRRC Submission 043074-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5514 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 103310885-103338872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103336802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 13 (Q13R)
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
SMART Domains Protein: ENSMUSP00000023129
Gene: ENSMUSG00000022487

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: ENSMUST00000123724
AA Change: Q13R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114733
Gene: ENSMUSG00000022487
AA Change: Q13R

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
SMART Domains Protein: ENSMUSP00000115123
Gene: ENSMUSG00000022487

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
SMART Domains Protein: ENSMUSP00000116366
Gene: ENSMUSG00000022487

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
SMART Domains Protein: ENSMUSP00000119234
Gene: ENSMUSG00000022487

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
SMART Domains Protein: ENSMUSP00000122193
Gene: ENSMUSG00000022487

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: Q20R
SMART Domains Protein: ENSMUSP00000115670
Gene: ENSMUSG00000022487
AA Change: Q20R

DomainStartEndE-ValueType
Pfam:zf-U11-48K 41 65 4e-13 PFAM
Pfam:zf-U11-48K 75 99 1.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147389
SMART Domains Protein: ENSMUSP00000120797
Gene: ENSMUSG00000022487

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
SMART Domains Protein: ENSMUSP00000114244
Gene: ENSMUSG00000022487

DomainStartEndE-ValueType
Pfam:zf-U11-48K 13 39 8.6e-15 PFAM
Pfam:zf-U11-48K 47 73 6.4e-14 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,390,520 (GRCm39) S382G probably damaging Het
Agr2 G A 12: 36,046,090 (GRCm39) V74I probably benign Het
Aldh3a1 T C 11: 61,108,867 (GRCm39) S423P probably damaging Het
Ampd1 C T 3: 102,986,488 (GRCm39) H56Y possibly damaging Het
Arhgef2 C A 3: 88,550,304 (GRCm39) P670T probably benign Het
Blk T G 14: 63,615,930 (GRCm39) D333A probably damaging Het
Bmi1 T C 2: 18,686,714 (GRCm39) I31T probably damaging Het
Cacna1d G A 14: 30,072,790 (GRCm39) Q62* probably null Het
Ccdc88c A G 12: 100,879,698 (GRCm39) S1801P probably damaging Het
Cdkal1 C T 13: 29,961,270 (GRCm39) A100T probably damaging Het
Cfap251 G T 5: 123,425,829 (GRCm39) probably null Het
Chst4 G T 8: 110,756,606 (GRCm39) S419Y probably damaging Het
Cntn4 T C 6: 106,649,844 (GRCm39) I680T probably damaging Het
Ddx55 T C 5: 124,694,875 (GRCm39) V101A probably damaging Het
Ddx60 A T 8: 62,411,091 (GRCm39) E451V probably damaging Het
Dffa T A 4: 149,190,772 (GRCm39) probably null Het
Dgkd A G 1: 87,861,832 (GRCm39) R796G probably damaging Het
Dzank1 T A 2: 144,323,605 (GRCm39) M614L probably benign Het
Elf2 G T 3: 51,215,555 (GRCm39) Q52K probably damaging Het
Fcamr T A 1: 130,741,793 (GRCm39) L522Q probably damaging Het
Fscn2 T C 11: 120,258,858 (GRCm39) Y468H probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm4787 A G 12: 81,425,102 (GRCm39) V352A possibly damaging Het
Itpkb G A 1: 180,241,474 (GRCm39) V715M probably damaging Het
Jmjd1c T A 10: 67,053,928 (GRCm39) S263T probably damaging Het
Krba1 T G 6: 48,390,429 (GRCm39) L736R probably damaging Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Mtor T A 4: 148,630,901 (GRCm39) V2286E probably damaging Het
Mybbp1a T A 11: 72,341,462 (GRCm39) V1100E possibly damaging Het
Myo5a G A 9: 75,061,048 (GRCm39) G518D probably damaging Het
Nalcn A T 14: 123,521,123 (GRCm39) I1594N probably benign Het
Nav1 C G 1: 135,398,299 (GRCm39) G761A probably benign Het
Ncoa2 A T 1: 13,251,445 (GRCm39) L276H probably damaging Het
Ndufaf7 T C 17: 79,245,051 (GRCm39) Y57H probably damaging Het
Nfkb2 A G 19: 46,299,847 (GRCm39) Y807C probably damaging Het
Nid2 A T 14: 19,852,535 (GRCm39) Q1081L probably damaging Het
Nkain2 T A 10: 31,827,189 (GRCm39) I134F probably damaging Het
Nmu A C 5: 76,497,979 (GRCm39) S69A probably damaging Het
Or4c15b A T 2: 89,112,817 (GRCm39) I220N probably damaging Het
Or5t7 T C 2: 86,507,225 (GRCm39) I151V probably benign Het
Pard3 A G 8: 128,153,086 (GRCm39) R886G probably damaging Het
Pde6b G T 5: 108,571,317 (GRCm39) Q423H probably benign Het
Pip5k1b A T 19: 24,327,505 (GRCm39) D450E probably damaging Het
Plcg1 T C 2: 160,595,275 (GRCm39) probably null Het
Pnpt1 T C 11: 29,103,246 (GRCm39) S504P possibly damaging Het
Pomt2 A T 12: 87,175,797 (GRCm39) D312E probably damaging Het
Ppp1r1b T C 11: 98,246,228 (GRCm39) L70P probably damaging Het
Prr5 C A 15: 84,587,096 (GRCm39) P282Q probably benign Het
Reln A T 5: 22,176,883 (GRCm39) W1928R possibly damaging Het
Sacm1l A T 9: 123,415,419 (GRCm39) R465* probably null Het
Sema7a A G 9: 57,863,046 (GRCm39) Y239C probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Svep1 T C 4: 58,044,054 (GRCm39) T3531A possibly damaging Het
Tjp1 A T 7: 65,004,609 (GRCm39) W19R probably damaging Het
Tmc2 T A 2: 130,083,564 (GRCm39) M507K possibly damaging Het
Unc13a A G 8: 72,095,795 (GRCm39) Y1241H probably damaging Het
Upp1 C T 11: 9,081,771 (GRCm39) P103S probably damaging Het
Vldlr A G 19: 27,221,624 (GRCm39) E663G probably damaging Het
Vmn2r68 G A 7: 84,886,767 (GRCm39) T49I possibly damaging Het
Xirp2 A T 2: 67,335,465 (GRCm39) M95L probably benign Het
Other mutations in Gtsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0541:Gtsf1 UTSW 15 103,329,619 (GRCm39) missense possibly damaging 0.92
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
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'- TTCAGGGTAATATGGCTGTAGAC -3'
(R):5'- CTTAGTCATAGGAGTAAAGAATGCC -3'

Sequencing Primer
(F):5'- TGAGCATCTGTATACCTCAATATCAC -3'
(R):5'- TCATAGGAGTAAAGAATGCCTTTAAG -3'
Posted On 2016-11-08