Incidental Mutation 'IGL00536:Tex11'
| ID |
5640 |
| 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 # |
IGL00536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
99882254-100103245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100076165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 156
(C156Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009814]
[ENSMUST00000113716]
[ENSMUST00000113718]
|
| AlphaFold |
Q14AT2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000009814
AA Change: C156Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000009814
Gene: ENSMUSG00000009670
AA Change: C156Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPO22
|
176 |
431 |
1.1e-62 |
PFAM |
|
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113716
AA Change: C156Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000109345
Gene: ENSMUSG00000009670
AA Change: C156Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPO22
|
175 |
433 |
2.1e-70 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113718
AA Change: C156Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000109347
Gene: ENSMUSG00000009670
AA Change: C156Y
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
C |
T |
5: 99,370,242 (GRCm39) |
C506Y |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,175,871 (GRCm39) |
E1899G |
probably damaging |
Het |
| Celsr3 |
C |
T |
9: 108,706,391 (GRCm39) |
T958I |
probably benign |
Het |
| Dock11 |
T |
C |
X: 35,258,087 (GRCm39) |
V644A |
probably benign |
Het |
| Dyrk2 |
C |
A |
10: 118,696,097 (GRCm39) |
R387L |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,202,202 (GRCm39) |
Y308C |
probably damaging |
Het |
| Ik |
A |
T |
18: 36,889,921 (GRCm39) |
R517* |
probably null |
Het |
| Lipo4 |
T |
A |
19: 33,493,086 (GRCm39) |
Y49F |
probably damaging |
Het |
| Pura |
G |
A |
18: 36,420,943 (GRCm39) |
M243I |
probably benign |
Het |
| Rsph4a |
T |
C |
10: 33,787,652 (GRCm39) |
|
probably benign |
Het |
| Scaf4 |
G |
T |
16: 90,054,250 (GRCm39) |
P213Q |
unknown |
Het |
| Slc39a12 |
A |
T |
2: 14,400,879 (GRCm39) |
|
probably benign |
Het |
| Vdac2 |
G |
A |
14: 21,888,511 (GRCm39) |
G138S |
probably benign |
Het |
| Zan |
C |
T |
5: 137,444,944 (GRCm39) |
V1772I |
unknown |
Het |
| Zscan2 |
C |
T |
7: 80,525,164 (GRCm39) |
T295M |
probably damaging |
Het |
|
| Other mutations in Tex11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Tex11
|
APN |
X |
100,015,724 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
2012-04-20 |
Incidental Mutation