Incidental Mutation 'R3882:Tex11'
| ID |
312838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex11
|
| Ensembl Gene |
ENSMUSG00000009670 |
| Gene Name |
testis expressed gene 11 |
| Synonyms |
4930565P14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R3882 (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: 95.2%
|
| Validation Efficiency |
97% (33/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
T |
9: 106,312,708 (GRCm39) |
T181K |
possibly damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,003 (GRCm39) |
F581L |
probably benign |
Het |
| Amhr2 |
G |
A |
15: 102,354,333 (GRCm39) |
G48D |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,525,661 (GRCm39) |
F1979S |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,526 (GRCm39) |
W24R |
probably damaging |
Het |
| C2 |
T |
C |
17: 35,092,465 (GRCm39) |
T191A |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,227,727 (GRCm39) |
T2454S |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,107 (GRCm39) |
E150G |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,595,492 (GRCm39) |
V1444F |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,162 (GRCm39) |
V319A |
possibly damaging |
Het |
| Gpha2 |
T |
C |
19: 6,276,919 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,137,319 (GRCm39) |
N517S |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,927,480 (GRCm39) |
I874N |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,672,462 (GRCm39) |
V1162E |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,012,063 (GRCm39) |
V698D |
possibly damaging |
Het |
| Miip |
A |
C |
4: 147,945,509 (GRCm39) |
S376A |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,435,983 (GRCm39) |
R285Q |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,517 (GRCm39) |
V281A |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,126,099 (GRCm39) |
L194I |
probably damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,624 (GRCm39) |
I369V |
probably benign |
Het |
| Pcdhga10 |
C |
A |
18: 37,880,494 (GRCm39) |
A85E |
possibly damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,899,719 (GRCm39) |
R137G |
possibly damaging |
Het |
| Rcor1 |
C |
T |
12: 111,070,187 (GRCm39) |
A230V |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,312,623 (GRCm39) |
M1191V |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,950,384 (GRCm39) |
D904G |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,662,313 (GRCm39) |
V706E |
probably benign |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,329 (GRCm39) |
C243S |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,092,536 (GRCm39) |
C1083S |
possibly damaging |
Het |
| Zfp952 |
G |
T |
17: 33,220,949 (GRCm39) |
E18* |
probably null |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,862 (GRCm39) |
G509C |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATGGTTTCCCGAATTCTTG -3'
(R):5'- GAGTACTCCTCAACAATTGTGTC -3'
Sequencing Primer
(F):5'- CTTGTCCAATATTTGCCCATTTAAG -3'
(R):5'- GCCATAGCAGAAGTTGAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation