Incidental Mutation 'R4204:Tex11'
ID |
318852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex11
|
Ensembl Gene |
ENSMUSG00000009670 |
Gene Name |
testis expressed gene 11 |
Synonyms |
4930565P14Rik |
MMRRC Submission |
041033-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.237)
|
Stock # |
R4204 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
X |
Chromosomal Location |
99882254-100103245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 99977021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 487
(A487S)
|
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: A487S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000009814 Gene: ENSMUSG00000009670 AA Change: A487S
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: A487S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109345 Gene: ENSMUSG00000009670 AA Change: A487S
Domain | Start | End | E-Value | Type |
Pfam:SPO22
|
175 |
433 |
2.1e-70 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113718
AA Change: A487S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109347 Gene: ENSMUSG00000009670 AA Change: A487S
Domain | Start | End | E-Value | Type |
Pfam:SPO22
|
175 |
433 |
3.8e-70 |
PFAM |
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3188 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (46/47) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,090,369 (GRCm39) |
K360R |
probably benign |
Het |
Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
B130006D01Rik |
A |
G |
11: 95,617,250 (GRCm39) |
|
probably benign |
Het |
BC028528 |
A |
T |
3: 95,797,057 (GRCm39) |
Y37* |
probably null |
Het |
Ccdc171 |
A |
T |
4: 83,599,392 (GRCm39) |
M736L |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,413,399 (GRCm39) |
K646E |
probably damaging |
Het |
Fam83b |
T |
C |
9: 76,410,335 (GRCm39) |
T192A |
probably benign |
Het |
Hgs |
C |
A |
11: 120,368,013 (GRCm39) |
P241T |
probably damaging |
Het |
Itga4 |
T |
C |
2: 79,109,505 (GRCm39) |
Y235H |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,706,923 (GRCm39) |
Y32H |
probably damaging |
Het |
Kprp |
A |
C |
3: 92,732,046 (GRCm39) |
S335A |
probably damaging |
Het |
Lgals9 |
C |
T |
11: 78,860,642 (GRCm39) |
|
probably benign |
Het |
Mfrp |
G |
A |
9: 44,016,525 (GRCm39) |
G407S |
possibly damaging |
Het |
Mfsd9 |
C |
T |
1: 40,820,670 (GRCm39) |
G160R |
probably damaging |
Het |
Mrtfb |
A |
T |
16: 13,221,119 (GRCm39) |
Q776L |
possibly damaging |
Het |
Mtcl1 |
T |
C |
17: 66,745,256 (GRCm39) |
Y35C |
probably damaging |
Het |
Nhej1 |
A |
T |
1: 75,085,782 (GRCm39) |
I6N |
probably damaging |
Het |
Npy5r |
G |
T |
8: 67,134,693 (GRCm39) |
Y33* |
probably null |
Het |
Or4c120 |
A |
G |
2: 89,001,124 (GRCm39) |
V144A |
probably benign |
Het |
Pcdha8 |
G |
C |
18: 37,127,737 (GRCm39) |
V740L |
probably damaging |
Het |
Pde8b |
C |
A |
13: 95,359,053 (GRCm39) |
C90F |
probably benign |
Het |
Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
Ppp2r2b |
T |
A |
18: 42,871,115 (GRCm39) |
H62L |
probably benign |
Het |
Prodh |
A |
G |
16: 17,890,182 (GRCm39) |
V553A |
probably damaging |
Het |
Rasgef1c |
G |
A |
11: 49,849,535 (GRCm39) |
V137M |
probably benign |
Het |
Resf1 |
C |
T |
6: 149,231,042 (GRCm39) |
R1363* |
probably null |
Het |
Rgl2 |
G |
T |
17: 34,155,906 (GRCm39) |
V694L |
probably benign |
Het |
Rnf133 |
T |
C |
6: 23,649,048 (GRCm39) |
N294D |
probably benign |
Het |
Rpe65 |
G |
A |
3: 159,310,047 (GRCm39) |
A107T |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,410,892 (GRCm39) |
R56G |
possibly damaging |
Het |
Serp2 |
A |
G |
14: 76,793,902 (GRCm39) |
I18T |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sis |
T |
C |
3: 72,868,415 (GRCm39) |
I92V |
probably benign |
Het |
Tcaim |
A |
G |
9: 122,662,683 (GRCm39) |
K417R |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,640,829 (GRCm39) |
D1000G |
possibly damaging |
Het |
Trpm3 |
T |
A |
19: 22,964,928 (GRCm39) |
D1474E |
probably benign |
Het |
Ubxn2a |
T |
C |
12: 4,944,593 (GRCm39) |
E43G |
probably damaging |
Het |
Utp14b |
G |
A |
1: 78,642,539 (GRCm39) |
E146K |
probably benign |
Het |
Zfp800 |
C |
T |
6: 28,243,180 (GRCm39) |
S595N |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGGTTTCCCGAATTCTTGTC -3'
(R):5'- GAGTACTCCTCAACAATTGTGTC -3'
Sequencing Primer
(F):5'- CTTGTCCAATATTTGCCCATTTAAG -3'
(R):5'- GCCATAGCAGAAGTTGAG -3'
|
Posted On |
2015-06-10 |