Incidental Mutation 'IGL01373:Tex9'
ID |
84090 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tex9
|
Ensembl Gene |
ENSMUSG00000090626 |
Gene Name |
testis expressed gene 9 |
Synonyms |
tsec-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL01373
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
72357676-72399494 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72388036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 134
(D134E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085358]
[ENSMUST00000183574]
[ENSMUST00000183856]
[ENSMUST00000184125]
[ENSMUST00000184557]
[ENSMUST00000184312]
[ENSMUST00000184831]
[ENSMUST00000185151]
|
AlphaFold |
Q9D845 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085358
|
SMART Domains |
Protein: ENSMUSP00000082467 Gene: ENSMUSG00000090626
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
coiled coil region
|
186 |
344 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183428
|
Predicted Effect |
unknown
Transcript: ENSMUST00000183501
AA Change: D53E
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183551
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183574
AA Change: D134E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139386 Gene: ENSMUSG00000090626 AA Change: D134E
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
coiled coil region
|
186 |
208 |
N/A |
INTRINSIC |
coiled coil region
|
231 |
286 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183856
AA Change: D134E
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000139247 Gene: ENSMUSG00000090626 AA Change: D134E
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
coiled coil region
|
186 |
328 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184066
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184125
AA Change: D134E
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139026 Gene: ENSMUSG00000090626 AA Change: D134E
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
coiled coil region
|
186 |
344 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184557
AA Change: D134E
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139212 Gene: ENSMUSG00000090626 AA Change: D134E
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
coiled coil region
|
186 |
280 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184734
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184312
|
SMART Domains |
Protein: ENSMUSP00000138844 Gene: ENSMUSG00000090626
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184831
|
SMART Domains |
Protein: ENSMUSP00000138999 Gene: ENSMUSG00000090626
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
159 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185151
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
C |
T |
7: 119,310,642 (GRCm39) |
R510* |
probably null |
Het |
Adamts12 |
A |
T |
15: 11,310,816 (GRCm39) |
E1024D |
probably benign |
Het |
Aff2 |
T |
A |
X: 68,911,335 (GRCm39) |
D1239E |
possibly damaging |
Het |
Agps |
T |
C |
2: 75,683,128 (GRCm39) |
V151A |
probably benign |
Het |
Cables1 |
A |
T |
18: 12,021,821 (GRCm39) |
R276S |
probably damaging |
Het |
Cep72 |
A |
G |
13: 74,207,578 (GRCm39) |
S64P |
probably damaging |
Het |
Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Cpxm1 |
T |
C |
2: 130,236,055 (GRCm39) |
E369G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,051,731 (GRCm39) |
L3021P |
probably benign |
Het |
Esyt1 |
T |
C |
10: 128,354,810 (GRCm39) |
E530G |
possibly damaging |
Het |
Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
Fbxw24 |
C |
T |
9: 109,452,701 (GRCm39) |
G98D |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,395,350 (GRCm39) |
I361V |
probably benign |
Het |
Gpr19 |
T |
A |
6: 134,847,284 (GRCm39) |
H41L |
possibly damaging |
Het |
Kcnq4 |
A |
G |
4: 120,574,229 (GRCm39) |
V143A |
probably damaging |
Het |
Larp7-ps |
A |
G |
4: 92,079,862 (GRCm39) |
V42A |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
Lpin3 |
G |
T |
2: 160,745,649 (GRCm39) |
D651Y |
probably damaging |
Het |
Ms4a6b |
A |
T |
19: 11,506,871 (GRCm39) |
H220L |
possibly damaging |
Het |
Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
Nxnl2 |
T |
C |
13: 51,325,488 (GRCm39) |
F44L |
probably damaging |
Het |
Or11g2 |
T |
A |
14: 50,856,069 (GRCm39) |
I130N |
probably damaging |
Het |
Or2ag16 |
T |
C |
7: 106,351,653 (GRCm39) |
|
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,639,621 (GRCm39) |
R716W |
probably benign |
Het |
Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
Plekhf1 |
T |
C |
7: 37,921,221 (GRCm39) |
T116A |
probably benign |
Het |
Psmb2 |
G |
T |
4: 126,580,885 (GRCm39) |
R93L |
probably damaging |
Het |
Pstpip2 |
T |
A |
18: 77,922,916 (GRCm39) |
L42* |
probably null |
Het |
Ptpn22 |
A |
T |
3: 103,793,520 (GRCm39) |
D557V |
probably damaging |
Het |
Rbbp5 |
G |
A |
1: 132,420,339 (GRCm39) |
V191I |
probably benign |
Het |
Rgs1 |
T |
A |
1: 144,121,116 (GRCm39) |
D185V |
probably damaging |
Het |
Selenoh |
A |
G |
2: 84,500,938 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
C |
T |
7: 49,567,481 (GRCm39) |
P312S |
probably benign |
Het |
Snapc1 |
T |
A |
12: 74,011,454 (GRCm39) |
M40K |
probably benign |
Het |
Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
Syne2 |
T |
C |
12: 76,033,881 (GRCm39) |
I3710T |
probably damaging |
Het |
Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
Ttc41 |
G |
T |
10: 86,611,821 (GRCm39) |
C1063F |
possibly damaging |
Het |
Usp38 |
C |
A |
8: 81,716,647 (GRCm39) |
A496S |
possibly damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,304,568 (GRCm39) |
Y621F |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
probably benign |
Het |
|
Other mutations in Tex9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00467:Tex9
|
APN |
9 |
72,385,117 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01109:Tex9
|
APN |
9 |
72,395,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02496:Tex9
|
APN |
9 |
72,389,774 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02569:Tex9
|
APN |
9 |
72,385,645 (GRCm39) |
missense |
probably damaging |
1.00 |
barbacoa
|
UTSW |
9 |
72,394,060 (GRCm39) |
critical splice donor site |
probably null |
|
R0068:Tex9
|
UTSW |
9 |
72,394,051 (GRCm39) |
splice site |
probably benign |
|
R0481:Tex9
|
UTSW |
9 |
72,385,678 (GRCm39) |
nonsense |
probably null |
|
R0628:Tex9
|
UTSW |
9 |
72,399,233 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R0962:Tex9
|
UTSW |
9 |
72,391,374 (GRCm39) |
missense |
probably benign |
|
R2212:Tex9
|
UTSW |
9 |
72,385,040 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3412:Tex9
|
UTSW |
9 |
72,385,040 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4373:Tex9
|
UTSW |
9 |
72,387,877 (GRCm39) |
critical splice donor site |
probably null |
|
R4972:Tex9
|
UTSW |
9 |
72,385,620 (GRCm39) |
critical splice donor site |
probably null |
|
R5323:Tex9
|
UTSW |
9 |
72,385,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R5401:Tex9
|
UTSW |
9 |
72,394,060 (GRCm39) |
critical splice donor site |
probably null |
|
R6149:Tex9
|
UTSW |
9 |
72,369,282 (GRCm39) |
splice site |
probably null |
|
R7396:Tex9
|
UTSW |
9 |
72,388,072 (GRCm39) |
splice site |
probably null |
|
R7412:Tex9
|
UTSW |
9 |
72,394,060 (GRCm39) |
critical splice donor site |
probably null |
|
R8198:Tex9
|
UTSW |
9 |
72,387,940 (GRCm39) |
start gained |
probably benign |
|
R8745:Tex9
|
UTSW |
9 |
72,389,778 (GRCm39) |
missense |
probably benign |
0.00 |
R9767:Tex9
|
UTSW |
9 |
72,368,518 (GRCm39) |
nonsense |
probably null |
|
X0024:Tex9
|
UTSW |
9 |
72,387,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-11 |