Incidental Mutation 'R7046:Theg'
ID547329
Institutional Source Beutler Lab
Gene Symbol Theg
Ensembl Gene ENSMUSG00000020317
Gene Nametesticular haploid expressed gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7046 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location79576379-79587331 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 79586962 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 35 (D35E)
Ref Sequence ENSEMBL: ENSMUSP00000076647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020566] [ENSMUST00000077433]
Predicted Effect probably benign
Transcript: ENSMUST00000020566
AA Change: D35E

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020566
Gene: ENSMUSG00000020317
AA Change: D35E

DomainStartEndE-ValueType
THEG 9 28 1.68e2 SMART
low complexity region 58 73 N/A INTRINSIC
THEG 110 129 2.22e-2 SMART
THEG 176 195 4.69e-1 SMART
THEG 214 233 9.16e-4 SMART
THEG 250 269 7.22e-2 SMART
THEG 282 301 2.31e0 SMART
THEG 318 337 4.45e-2 SMART
THEG 352 371 1.96e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077433
AA Change: D35E

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076647
Gene: ENSMUSG00000020317
AA Change: D35E

DomainStartEndE-ValueType
THEG 9 28 6.2e-1 SMART
low complexity region 58 73 N/A INTRINSIC
THEG 110 129 7.8e-5 SMART
THEG 152 171 1.7e-3 SMART
THEG 190 209 3.3e-6 SMART
THEG 226 245 2.5e-4 SMART
THEG 258 277 8.3e-3 SMART
THEG 294 313 1.6e-4 SMART
THEG 328 347 7e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Males homozygotes for a transgenic insertional mutation are sterile due to a block in spermiogenesis. Testis weights are reduced, and mutants exhibit multiple abnormalities in elongated spermatids in the seminiferous tubule lumen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 46,122,940 Y805C probably damaging Het
Cabp7 T A 11: 4,738,886 I195F probably damaging Het
Camsap1 T C 2: 25,945,189 N317S probably damaging Het
Ccdc127 T G 13: 74,352,875 L4V probably damaging Het
Ccdc7a T C 8: 129,047,619 E145G probably damaging Het
Cdh10 T A 15: 19,013,201 V629D probably damaging Het
Cdh23 A C 10: 60,378,751 L1497R probably damaging Het
Chsy3 A G 18: 59,409,803 K671R probably benign Het
Clca4b T C 3: 144,915,606 Y569C probably damaging Het
Cnga1 T C 5: 72,629,353 probably benign Het
Cyp51 T A 5: 4,100,188 E178D probably damaging Het
Defa30 T A 8: 21,135,455 N78K probably benign Het
Disp1 C A 1: 183,087,466 R1130L probably damaging Het
Dnah14 G T 1: 181,623,003 C727F probably benign Het
Egf A T 3: 129,754,958 W3R unknown Het
Egfem1 G A 3: 29,082,215 probably null Het
Epb41l1 G T 2: 156,526,892 V682L possibly damaging Het
Etv1 A G 12: 38,784,370 probably null Het
Faap100 A G 11: 120,377,374 F191S possibly damaging Het
Fam208a A T 14: 27,472,435 L1197F probably damaging Het
Fmo1 T A 1: 162,839,694 D184V possibly damaging Het
Ghrl A G 6: 113,719,383 L16P probably damaging Het
Gria4 T A 9: 4,420,278 L861F probably damaging Het
Gsr T A 8: 33,695,062 M428K probably damaging Het
Hspa5 C T 2: 34,773,192 P127L probably damaging Het
Kbtbd12 A G 6: 88,618,515 M111T possibly damaging Het
Krtap21-1 G T 16: 89,403,735 Y6* probably null Het
Lin9 A G 1: 180,667,370 D219G probably damaging Het
Lrrc38 A G 4: 143,350,169 M1V probably null Het
Macc1 T G 12: 119,447,038 F514V probably benign Het
Madcam1 C T 10: 79,668,305 R242C probably benign Het
Mfhas1 T C 8: 35,664,790 S1037P probably benign Het
Micall2 C T 5: 139,708,944 probably benign Het
Mtr C A 13: 12,190,209 A1122S possibly damaging Het
Muc6 T A 7: 141,640,189 probably benign Het
Myh15 T A 16: 49,109,299 C529* probably null Het
Napsa T C 7: 44,585,085 V247A probably damaging Het
Nr2c2 A G 6: 92,158,357 T309A probably damaging Het
Olfr133 A T 17: 38,148,800 M71L probably benign Het
Olfr357 T A 2: 36,997,161 V117E probably benign Het
Olfr385 A T 11: 73,589,732 I2K probably benign Het
Osgepl1 A T 1: 53,321,551 I384F possibly damaging Het
Otud4 C T 8: 79,651,042 L111F possibly damaging Het
Pds5b A G 5: 150,749,920 Y481C probably damaging Het
Pdzrn4 T A 15: 92,770,422 Y818* probably null Het
Pin1rt1 T C 2: 104,714,422 S122G probably benign Het
Pkdcc A T 17: 83,224,258 Y487F probably damaging Het
Plxna4 C T 6: 32,516,505 C392Y probably damaging Het
Psd4 T G 2: 24,394,973 M283R probably benign Het
Ralgds G T 2: 28,540,729 G68W probably damaging Het
Rmdn2 T A 17: 79,621,379 I20N probably damaging Het
Sestd1 A G 2: 77,192,566 V486A probably benign Het
Svs1 T A 6: 48,987,578 D173E probably benign Het
Tango6 A G 8: 106,807,116 H958R possibly damaging Het
Taok3 C T 5: 117,273,706 R857C probably damaging Het
Trio T C 15: 27,832,051 E1245G probably damaging Het
Usp19 C T 9: 108,497,135 H763Y possibly damaging Het
Vmn1r185 A G 7: 26,611,226 S285P probably damaging Het
Vmn1r45 T G 6: 89,933,556 Y144S probably benign Het
Vwa3b G A 1: 37,173,878 E152K probably benign Het
Wdr61 T A 9: 54,719,255 D275V probably damaging Het
Xrcc5 G A 1: 72,394,716 M731I probably benign Het
Zfp619 G A 7: 39,537,363 S939N possibly damaging Het
Zfp874a C A 13: 67,442,299 C422F probably damaging Het
Zfp948 A G 17: 21,588,457 D637G possibly damaging Het
Other mutations in Theg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Theg APN 10 79576599 missense probably damaging 0.99
IGL02013:Theg APN 10 79579935 splice site probably null
R0087:Theg UTSW 10 79585951 nonsense probably null
R1035:Theg UTSW 10 79583850 missense probably damaging 1.00
R4133:Theg UTSW 10 79580050 missense probably damaging 0.97
R5960:Theg UTSW 10 79585931 missense possibly damaging 0.76
R5971:Theg UTSW 10 79584755 missense probably damaging 1.00
R6067:Theg UTSW 10 79584755 missense probably damaging 1.00
R6138:Theg UTSW 10 79584755 missense probably damaging 1.00
R6357:Theg UTSW 10 79586955 missense probably benign 0.28
R7117:Theg UTSW 10 79584907 splice site probably null
R7463:Theg UTSW 10 79576715 missense probably damaging 0.99
R8441:Theg UTSW 10 79576676 missense probably damaging 1.00
U15987:Theg UTSW 10 79584755 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTAGCATCTGCCTCCTTGG -3'
(R):5'- ACCATAGGTCCATTTGGGTGC -3'

Sequencing Primer
(F):5'- TACCTGCCCACTGGGTC -3'
(R):5'- ATAGGTCCATTTGGGTGCTGAGG -3'
Posted On2019-05-13