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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |