Incidental Mutation 'IGL00838:Tex11'
ID 14429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tex11
Ensembl Gene ENSMUSG00000009670
Gene Name testis expressed gene 11
Synonyms 4930565P14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # IGL00838
Quality Score
Status
Chromosome X
Chromosomal Location 99882254-100103245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100015724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 328 (I328N)
Ref Sequence ENSEMBL: ENSMUSP00000109347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009814] [ENSMUST00000113716] [ENSMUST00000113718]
AlphaFold Q14AT2
Predicted Effect possibly damaging
Transcript: ENSMUST00000009814
AA Change: I328N

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000009814
Gene: ENSMUSG00000009670
AA Change: I328N

DomainStartEndE-ValueType
Pfam:SPO22 176 431 1.1e-62 PFAM
low complexity region 702 713 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113716
AA Change: I328N

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109345
Gene: ENSMUSG00000009670
AA Change: I328N

DomainStartEndE-ValueType
Pfam:SPO22 175 433 2.1e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113718
AA Change: I328N

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109347
Gene: ENSMUSG00000009670
AA Change: I328N

DomainStartEndE-ValueType
Pfam:SPO22 175 433 3.8e-70 PFAM
low complexity region 702 713 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Miche homozygous for a knockout allele exhibit abnormal male meiosis. Mice homozygous for a conditional knockout exhibit male infertility and reduced female fecundity due to abnormal meiosis following cre recombination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 C A 1: 93,330,479 (GRCm39) N834K possibly damaging Het
Armc10 T A 5: 21,866,579 (GRCm39) V281E probably damaging Het
Baat A T 4: 49,490,352 (GRCm39) M244K probably damaging Het
Cryz T A 3: 154,324,112 (GRCm39) C166S probably damaging Het
D430041D05Rik T A 2: 104,031,648 (GRCm39) K1649N probably damaging Het
Dennd5b T C 6: 148,906,861 (GRCm39) probably benign Het
Dock8 A T 19: 25,152,823 (GRCm39) R1630* probably null Het
Gstm5 A G 3: 107,804,874 (GRCm39) N122S probably benign Het
Klra5 C A 6: 129,888,322 (GRCm39) G35C possibly damaging Het
Klrb1f G A 6: 129,031,279 (GRCm39) V159I possibly damaging Het
Mgl2 A T 11: 70,025,038 (GRCm39) M14L probably benign Het
Mob1a C T 6: 83,315,313 (GRCm39) R78C possibly damaging Het
Pigo C T 4: 43,021,767 (GRCm39) A392T possibly damaging Het
Polr3a A T 14: 24,525,931 (GRCm39) N436K probably benign Het
Prokr1 T C 6: 87,565,675 (GRCm39) T57A possibly damaging Het
Ror1 T G 4: 100,190,940 (GRCm39) V99G probably damaging Het
Ryr2 A T 13: 11,583,389 (GRCm39) I4755N probably damaging Het
Senp5 T C 16: 31,807,991 (GRCm39) D394G probably damaging Het
Skic3 T C 13: 76,282,910 (GRCm39) L744P probably damaging Het
Speg A G 1: 75,387,034 (GRCm39) I1318V possibly damaging Het
Syt6 T A 3: 103,532,942 (GRCm39) M357K probably damaging Het
Vnn1 T C 10: 23,776,677 (GRCm39) F343L possibly damaging Het
Wdr72 A T 9: 74,062,411 (GRCm39) E519V probably damaging Het
Other mutations in Tex11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Tex11 APN X 100,076,165 (GRCm39) missense probably null 0.00
IGL02385:Tex11 APN X 99,920,135 (GRCm39) splice site probably benign
R2958:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R2960:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R2963:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R3008:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R3009:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R3010:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R3011:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R3745:Tex11 UTSW X 99,960,178 (GRCm39) missense probably benign 0.33
R3881:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R3882:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4081:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4082:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4159:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4172:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4197:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4201:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4204:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4206:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4304:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R4305:Tex11 UTSW X 99,977,021 (GRCm39) missense possibly damaging 0.70
R8726:Tex11 UTSW X 100,059,191 (GRCm39) missense possibly damaging 0.82
R8727:Tex11 UTSW X 100,059,191 (GRCm39) missense possibly damaging 0.82
Posted On 2012-12-06