Incidental Mutation 'R4172:Tex11'
ID |
318197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex11
|
Ensembl Gene |
ENSMUSG00000009670 |
Gene Name |
testis expressed gene 11 |
Synonyms |
4930565P14Rik |
MMRRC Submission |
044391-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.237)
|
Stock # |
R4172 (G1)
|
Quality Score |
222 |
Status
|
Not 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: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
Cdc5l |
A |
G |
17: 45,730,698 (GRCm39) |
I196T |
probably damaging |
Het |
Dnah7b |
G |
T |
1: 46,266,106 (GRCm39) |
R2225L |
probably damaging |
Het |
Gfra2 |
C |
A |
14: 71,133,521 (GRCm39) |
T117K |
possibly damaging |
Het |
Gle1 |
T |
C |
2: 29,828,538 (GRCm39) |
I120T |
probably benign |
Het |
Guf1 |
T |
A |
5: 69,715,572 (GRCm39) |
N52K |
possibly damaging |
Het |
Helq |
T |
C |
5: 100,919,713 (GRCm39) |
K813E |
probably benign |
Het |
Ighv7-4 |
A |
T |
12: 114,186,635 (GRCm39) |
F46I |
probably damaging |
Het |
Il6st |
G |
A |
13: 112,631,861 (GRCm39) |
D467N |
probably benign |
Het |
Jak1 |
C |
A |
4: 101,016,329 (GRCm39) |
V812L |
probably benign |
Het |
Kank4 |
G |
T |
4: 98,667,358 (GRCm39) |
T363K |
probably damaging |
Het |
Lcat |
C |
A |
8: 106,669,059 (GRCm39) |
W72L |
possibly damaging |
Het |
Map2 |
T |
C |
1: 66,452,759 (GRCm39) |
S392P |
possibly damaging |
Het |
Mtmr2 |
T |
C |
9: 13,711,358 (GRCm39) |
F456L |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,183,247 (GRCm39) |
R709W |
probably damaging |
Het |
Nop14 |
T |
C |
5: 34,807,951 (GRCm39) |
N337S |
probably damaging |
Het |
Npbwr1 |
A |
G |
1: 5,987,155 (GRCm39) |
Y120H |
probably damaging |
Het |
Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
Oxsm |
A |
T |
14: 16,242,079 (GRCm38) |
V230E |
probably damaging |
Het |
Paox |
G |
A |
7: 139,713,941 (GRCm39) |
G234R |
probably damaging |
Het |
Polq |
C |
T |
16: 36,881,120 (GRCm39) |
H1095Y |
probably benign |
Het |
Rad51c |
T |
C |
11: 87,293,572 (GRCm39) |
T77A |
probably damaging |
Het |
Ryr3 |
C |
A |
2: 112,624,815 (GRCm39) |
V2202F |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Snx27 |
T |
C |
3: 94,410,794 (GRCm39) |
H452R |
probably benign |
Het |
Son |
C |
T |
16: 91,456,250 (GRCm39) |
H1666Y |
probably damaging |
Het |
Spata25 |
C |
A |
2: 164,669,408 (GRCm39) |
W201L |
possibly damaging |
Het |
Spint2 |
A |
G |
7: 28,963,097 (GRCm39) |
V67A |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,691,268 (GRCm39) |
Y322C |
probably benign |
Het |
Synm |
T |
C |
7: 67,385,109 (GRCm39) |
Y409C |
probably damaging |
Het |
Tpm1 |
T |
C |
9: 66,930,649 (GRCm39) |
N283D |
probably benign |
Het |
Trpv6 |
T |
C |
6: 41,602,432 (GRCm39) |
D318G |
probably damaging |
Het |
Ube2j2 |
A |
G |
4: 156,033,543 (GRCm39) |
D39G |
probably damaging |
Het |
Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
Vwa5a |
T |
C |
9: 38,635,166 (GRCm39) |
F224L |
probably damaging |
Het |
Zfp445 |
T |
A |
9: 122,681,002 (GRCm39) |
M980L |
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 |
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'- AATGATGGTTTCCCGAATTCTTGTC -3'
(R):5'- GAGTACTCCTCAACAATTGTGTC -3'
Sequencing Primer
(F):5'- CTTGTCCAATATTTGCCCATTTAAG -3'
(R):5'- GCCATAGCAGAAGTTGAG -3'
|
Posted On |
2015-06-10 |