Incidental Mutation 'IGL00467:Tex9'
| ID |
4850 |
| 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 # |
IGL00467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
72357676-72399494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72385117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 240
(T240A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085358]
[ENSMUST00000183574]
[ENSMUST00000183856]
[ENSMUST00000184831]
[ENSMUST00000184125]
[ENSMUST00000184557]
[ENSMUST00000184312]
[ENSMUST00000185151]
|
| AlphaFold |
Q9D845 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085358
AA Change: T41A
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000082467
Gene: ENSMUSG00000090626
AA Change: T41A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183399
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183574
|
| SMART Domains |
Protein: ENSMUSP00000139386
Gene: ENSMUSG00000090626
| 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: T240A
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139247
Gene: ENSMUSG00000090626
AA Change: T240A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184831
AA Change: T55A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138999
Gene: ENSMUSG00000090626
AA Change: T55A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184125
AA Change: T240A
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139026
Gene: ENSMUSG00000090626
AA Change: T240A
| 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: ENSMUST00000184557
AA Change: T240A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139212
Gene: ENSMUSG00000090626
AA Change: T240A
| 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: ENSMUST00000184066
|
| 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: ENSMUST00000185151
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,036,496 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
C |
A |
15: 101,041,221 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
A |
19: 8,984,587 (GRCm39) |
M1957K |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,512 (GRCm39) |
D653G |
probably damaging |
Het |
| Dcstamp |
T |
A |
15: 39,617,812 (GRCm39) |
C74S |
probably benign |
Het |
| Esrrg |
A |
G |
1: 187,943,107 (GRCm39) |
E360G |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,917,098 (GRCm39) |
|
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,914,286 (GRCm39) |
T216A |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,343,193 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mta3 |
T |
A |
17: 84,063,113 (GRCm39) |
|
probably benign |
Het |
| Nfu1 |
A |
G |
6: 86,997,755 (GRCm39) |
M213V |
possibly damaging |
Het |
| Pam |
A |
T |
1: 97,852,152 (GRCm39) |
|
probably benign |
Het |
| Pcca |
A |
T |
14: 122,820,041 (GRCm39) |
M62L |
probably benign |
Het |
| Phf6 |
A |
G |
X: 52,020,523 (GRCm39) |
Y25C |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,652,422 (GRCm39) |
H589Y |
probably benign |
Het |
| Ppp1r13b |
A |
G |
12: 111,795,804 (GRCm39) |
I956T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,324,379 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,086,656 (GRCm39) |
N973I |
possibly damaging |
Het |
| Rnf20 |
G |
T |
4: 49,655,480 (GRCm39) |
E905* |
probably null |
Het |
| Slc26a6 |
T |
A |
9: 108,733,088 (GRCm39) |
D22E |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taf6l |
A |
T |
19: 8,760,752 (GRCm39) |
N57K |
probably benign |
Het |
| Tas2r109 |
C |
A |
6: 132,956,986 (GRCm39) |
V315L |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,170,121 (GRCm39) |
N350S |
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,193,734 (GRCm39) |
|
probably benign |
Het |
| Trim30c |
A |
T |
7: 104,031,389 (GRCm39) |
Y475* |
probably null |
Het |
| Trim60 |
T |
C |
8: 65,453,371 (GRCm39) |
T293A |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,708 (GRCm39) |
Y1233C |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,841,235 (GRCm39) |
I106V |
probably benign |
Het |
| Zkscan16 |
T |
C |
4: 58,957,709 (GRCm39) |
S664P |
possibly damaging |
Het |
|
| Other mutations in Tex9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Tex9
|
APN |
9 |
72,395,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Tex9
|
APN |
9 |
72,388,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
2012-04-20 |
Incidental Mutation