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 |
Incidental Mutation