Incidental Mutation 'R4305:Tex11'
ID |
324015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex11
|
Ensembl Gene |
ENSMUSG00000009670 |
Gene Name |
testis expressed gene 11 |
Synonyms |
4930565P14Rik |
MMRRC Submission |
041091-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.203)
|
Stock # |
R4305 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
X |
Chromosomal Location |
100838648-101059667 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 100933415 bp (GRCm38)
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
92% (36/39) |
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
C |
A |
1: 11,972,076 (GRCm38) |
S440* |
probably null |
Het |
Abl2 |
T |
A |
1: 156,641,563 (GRCm38) |
M695K |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,229,481 (GRCm38) |
I426T |
probably damaging |
Het |
Atxn7l1 |
T |
C |
12: 33,341,992 (GRCm38) |
M93T |
probably damaging |
Het |
Ccr5 |
T |
C |
9: 124,125,074 (GRCm38) |
L238P |
possibly damaging |
Het |
Cd27 |
A |
G |
6: 125,234,670 (GRCm38) |
V98A |
probably benign |
Het |
Chrdl2 |
A |
G |
7: 100,022,022 (GRCm38) |
T116A |
probably damaging |
Het |
Epha6 |
T |
C |
16: 60,526,520 (GRCm38) |
|
probably null |
Het |
Fam71f1 |
A |
G |
6: 29,326,612 (GRCm38) |
S243G |
probably damaging |
Het |
Gart |
T |
C |
16: 91,633,992 (GRCm38) |
E394G |
possibly damaging |
Het |
Gm5155 |
T |
A |
7: 17,905,193 (GRCm38) |
Y372N |
probably benign |
Het |
Gm7173 |
C |
G |
X: 79,498,029 (GRCm38) |
K469N |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,850,378 (GRCm38) |
|
probably benign |
Het |
Lpar6 |
G |
A |
14: 73,238,941 (GRCm38) |
R114Q |
probably damaging |
Het |
Med23 |
G |
T |
10: 24,904,270 (GRCm38) |
E573* |
probably null |
Het |
Mtch2 |
A |
G |
2: 90,859,483 (GRCm38) |
I183V |
probably benign |
Het |
Nlrp3 |
C |
T |
11: 59,548,010 (GRCm38) |
R138* |
probably null |
Het |
Notch1 |
T |
C |
2: 26,477,924 (GRCm38) |
D657G |
probably damaging |
Het |
Olfr1281 |
A |
G |
2: 111,329,298 (GRCm38) |
D293G |
probably null |
Het |
Rbm20 |
A |
G |
19: 53,843,260 (GRCm38) |
S642G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,918,337 (GRCm38) |
S4123G |
probably benign |
Het |
Ugt3a1 |
A |
C |
15: 9,306,274 (GRCm38) |
S170R |
possibly damaging |
Het |
Vmn2r71 |
G |
T |
7: 85,624,152 (GRCm38) |
D725Y |
probably damaging |
Het |
Vps9d1 |
G |
T |
8: 123,248,237 (GRCm38) |
|
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,208,422 (GRCm38) |
T808A |
probably damaging |
Het |
Zdhhc4 |
C |
T |
5: 143,324,344 (GRCm38) |
|
probably benign |
Het |
|
Other mutations in Tex11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00536:Tex11
|
APN |
X |
101,032,559 (GRCm38) |
missense |
probably null |
0.00 |
IGL00838:Tex11
|
APN |
X |
100,972,118 (GRCm38) |
missense |
possibly damaging |
0.92 |
IGL02385:Tex11
|
APN |
X |
100,876,529 (GRCm38) |
splice site |
probably benign |
|
R2958:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R2960:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R2963:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R3008:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R3009:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R3010:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R3011:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R3745:Tex11
|
UTSW |
X |
100,916,572 (GRCm38) |
missense |
probably benign |
0.33 |
R3881:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R3882:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R4081:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R4082:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R4159:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R4172:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R4197:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R4201:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R4204:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R4206:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R4304:Tex11
|
UTSW |
X |
100,933,415 (GRCm38) |
missense |
possibly damaging |
0.70 |
R8726:Tex11
|
UTSW |
X |
101,015,585 (GRCm38) |
missense |
possibly damaging |
0.82 |
R8727:Tex11
|
UTSW |
X |
101,015,585 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAATGATGGTTTCCCGAATTCTTGTC -3'
(R):5'- GAGTACTCCTCAACAATTGTGTC -3'
Sequencing Primer
(F):5'- CTTGTCCAATATTTGCCCATTTAAG -3'
(R):5'- GCCATAGCAGAAGTTGAG -3'
|
Posted On |
2015-06-24 |