Incidental Mutation 'R4159:Tex11'
ID |
315684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex11
|
Ensembl Gene |
ENSMUSG00000009670 |
Gene Name |
testis expressed gene 11 |
Synonyms |
4930565P14Rik |
MMRRC Submission |
041002-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.237)
|
Stock # |
R4159 (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: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (45/47) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
T |
G |
12: 81,466,806 (GRCm39) |
D605A |
probably damaging |
Het |
Adcy1 |
A |
G |
11: 7,013,889 (GRCm39) |
H97R |
probably damaging |
Het |
Amdhd1 |
A |
G |
10: 93,370,512 (GRCm39) |
Y109H |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,722,593 (GRCm39) |
N372S |
possibly damaging |
Het |
Aoc2 |
G |
A |
11: 101,216,122 (GRCm39) |
M68I |
probably damaging |
Het |
Aspscr1 |
G |
A |
11: 120,599,502 (GRCm39) |
A377T |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,985,232 (GRCm39) |
M854K |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
Cacnb1 |
G |
C |
11: 97,903,100 (GRCm39) |
C154W |
probably damaging |
Het |
Ccdc186 |
G |
A |
19: 56,781,924 (GRCm39) |
R27* |
probably null |
Het |
Clnk |
C |
A |
5: 38,899,138 (GRCm39) |
|
probably benign |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Fut8 |
T |
C |
12: 77,440,523 (GRCm39) |
L170P |
probably damaging |
Het |
G3bp2 |
T |
C |
5: 92,212,260 (GRCm39) |
H217R |
probably benign |
Het |
Gm19345 |
G |
A |
7: 19,588,886 (GRCm39) |
|
probably benign |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
Met |
G |
T |
6: 17,562,271 (GRCm39) |
|
probably null |
Het |
Mfsd3 |
T |
C |
15: 76,585,945 (GRCm39) |
L26P |
probably damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pde8a |
A |
G |
7: 80,970,407 (GRCm39) |
I510V |
probably benign |
Het |
Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
Phkb |
T |
A |
8: 86,748,162 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
Slc15a5 |
G |
T |
6: 138,049,938 (GRCm39) |
T159K |
possibly damaging |
Het |
Slc39a6 |
A |
G |
18: 24,730,885 (GRCm39) |
V362A |
possibly damaging |
Het |
Spef2 |
A |
T |
15: 9,676,407 (GRCm39) |
D721E |
probably damaging |
Het |
Sting1 |
A |
T |
18: 35,872,272 (GRCm39) |
Y77N |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
Ttll8 |
T |
C |
15: 88,801,444 (GRCm39) |
N415D |
probably benign |
Het |
Ube2d2a |
A |
T |
18: 35,903,577 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,036,512 (GRCm39) |
|
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,898,088 (GRCm39) |
C368S |
probably damaging |
Het |
Vmn2r3 |
G |
A |
3: 64,194,850 (GRCm39) |
Q23* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTCAAATGATGGTTTCCCG -3'
(R):5'- GAGTACTCCTCAACAATTGTGTC -3'
Sequencing Primer
(F):5'- GCTCAAATGATGGTTTCCCGAATTC -3'
(R):5'- GCCATAGCAGAAGTTGAG -3'
|
Posted On |
2015-05-14 |