Incidental Mutation 'R0096:Gtsf1l'
ID 64051
Institutional Source Beutler Lab
Gene Symbol Gtsf1l
Ensembl Gene ENSMUSG00000070708
Gene Name gametocyte specific factor 1-like
Synonyms 2410116G06Rik
MMRRC Submission 038382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R0096 (G1)
Quality Score 91
Status Validated
Chromosome 2
Chromosomal Location 162928954-162929775 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 162929456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 9 (C9Y)
Ref Sequence ENSEMBL: ENSMUSP00000092237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018005] [ENSMUST00000094653] [ENSMUST00000142729]
AlphaFold Q9CWD0
Predicted Effect probably benign
Transcript: ENSMUST00000018005
SMART Domains Protein: ENSMUSP00000018005
Gene: ENSMUSG00000017861

DomainStartEndE-ValueType
SANT 30 79 1.38e-16 SMART
SANT 82 131 5.77e-19 SMART
SANT 134 182 2.12e-17 SMART
low complexity region 232 252 N/A INTRINSIC
low complexity region 339 366 N/A INTRINSIC
Pfam:Cmyb_C 454 610 6.4e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094653
AA Change: C9Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092237
Gene: ENSMUSG00000070708
AA Change: C9Y

DomainStartEndE-ValueType
Pfam:zf-U11-48K 6 30 2.6e-14 PFAM
Pfam:zf-U11-48K 40 63 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142729
SMART Domains Protein: ENSMUSP00000114710
Gene: ENSMUSG00000017861

DomainStartEndE-ValueType
Pfam:Cmyb_C 16 71 1.9e-23 PFAM
Pfam:Cmyb_C 99 215 4e-36 PFAM
Meta Mutation Damage Score 0.9138 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.5%
Validation Efficiency 100% (69/69)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamts3 G A 5: 89,849,576 (GRCm39) Q615* probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Anks1b T C 10: 89,909,924 (GRCm39) S48P possibly damaging Het
Aoc1l2 A C 6: 48,908,122 (GRCm39) Q374P probably damaging Het
Arfip2 T A 7: 105,287,437 (GRCm39) K94N probably damaging Het
Arhgap42 G T 9: 9,009,314 (GRCm39) N524K probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Arid4b T C 13: 14,303,779 (GRCm39) V68A probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Capn3 A T 2: 120,333,010 (GRCm39) H592L possibly damaging Het
Dglucy A T 12: 100,804,910 (GRCm39) I134F possibly damaging Het
Dhh T A 15: 98,791,869 (GRCm39) M380L probably benign Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dthd1 A T 5: 63,000,383 (GRCm39) R568S possibly damaging Het
Efr3a A G 15: 65,727,290 (GRCm39) N613S probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Fam120c CCAGCAGCAGCAGCAGCA CCAGCAGCAGCAGCA X: 150,127,341 (GRCm39) probably benign Het
Fbrs C T 7: 127,088,659 (GRCm39) A145V probably damaging Het
Gm4736 T C 6: 132,092,569 (GRCm39) noncoding transcript Het
Gm9873 A T 2: 168,863,029 (GRCm39) noncoding transcript Het
Grik1 T C 16: 87,831,114 (GRCm39) M219V possibly damaging Het
Itih5 G A 2: 10,256,189 (GRCm39) R885Q probably benign Het
Kdm4c A G 4: 74,275,580 (GRCm39) E752G probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lama1 T A 17: 68,112,408 (GRCm39) F2283I probably benign Het
Luc7l3 A G 11: 94,192,320 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Map1a A G 2: 121,131,986 (GRCm39) E696G probably damaging Het
Mrps34 A G 17: 25,114,643 (GRCm39) D110G probably damaging Het
Myh11 T A 16: 14,022,231 (GRCm39) K1710M possibly damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Nos1ap T C 1: 170,156,816 (GRCm39) D214G probably damaging Het
Or4c119 A T 2: 88,986,640 (GRCm39) M293K probably benign Het
Or8b46 A T 9: 38,450,832 (GRCm39) I214F probably damaging Het
Pate4 T G 9: 35,523,130 (GRCm39) T5P probably damaging Het
Pygl A T 12: 70,237,940 (GRCm39) probably benign Het
Samd4 A T 14: 47,301,754 (GRCm39) M252L possibly damaging Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Sis A T 3: 72,835,600 (GRCm39) W921R probably damaging Het
Skint5 A T 4: 113,454,965 (GRCm39) probably benign Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Sycp2 G T 2: 178,045,528 (GRCm39) Q31K probably damaging Het
Taar7f A G 10: 23,926,152 (GRCm39) M249V probably benign Het
Tarm1 T C 7: 3,546,067 (GRCm39) T79A probably benign Het
Tektl1 T A 10: 78,584,539 (GRCm39) I328L probably benign Het
Trf A G 9: 103,099,358 (GRCm39) F300L probably damaging Het
Vmn1r69 T A 7: 10,313,985 (GRCm39) I170F probably damaging Het
Vmn2r105 A G 17: 20,447,741 (GRCm39) F361S possibly damaging Het
Vmn2r79 A G 7: 86,686,527 (GRCm39) Y636C probably damaging Het
Wdr59 T C 8: 112,231,005 (GRCm39) N68D probably damaging Het
Zfp345 T A 2: 150,314,220 (GRCm39) H439L probably damaging Het
Other mutations in Gtsf1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0141:Gtsf1l UTSW 2 162,929,246 (GRCm39) missense probably benign 0.39
R5014:Gtsf1l UTSW 2 162,929,112 (GRCm39) missense probably damaging 1.00
R6265:Gtsf1l UTSW 2 162,929,583 (GRCm39) unclassified probably benign
R6798:Gtsf1l UTSW 2 162,929,391 (GRCm39) missense probably benign 0.05
R9764:Gtsf1l UTSW 2 162,929,052 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAGCCAGCTTTCTGATGGGAAC -3'
(R):5'- TGAACAGCAGCTTTCCTCAAGCC -3'

Sequencing Primer
(F):5'- GGGTTCTTCTTCCTGCATGA -3'
(R):5'- GGGTATCTTAGCGTCAAAGCATC -3'
Posted On 2013-08-06