Incidental Mutation 'R0962:Tex9'
| ID |
81280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex9
|
| Ensembl Gene |
ENSMUSG00000090626 |
| Gene Name |
testis expressed gene 9 |
| Synonyms |
tsec-1 |
| MMRRC Submission |
039091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R0962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72357676-72399494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72391374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 92
(T92A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139212
(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 |
unknown
Transcript: ENSMUST00000183428
AA Change: T43A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183501
AA Change: T13A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183574
AA Change: T92A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139386
Gene: ENSMUSG00000090626
AA Change: T92A
| 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: T92A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139247
Gene: ENSMUSG00000090626
AA Change: T92A
| 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 |
probably benign
Transcript: ENSMUST00000184125
AA Change: T92A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139026
Gene: ENSMUSG00000090626
AA Change: T92A
| 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: T92A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139212
Gene: ENSMUSG00000090626
AA Change: T92A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184312
AA Change: T92A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138844
Gene: ENSMUSG00000090626
AA Change: T92A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184734
|
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.9%
- 20x: 96.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
G |
A |
11: 84,202,129 (GRCm39) |
A196T |
probably damaging |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,798 (GRCm39) |
R97* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,553,465 (GRCm39) |
I5470V |
probably benign |
Het |
| Afg3l2 |
T |
C |
18: 67,538,497 (GRCm39) |
T754A |
possibly damaging |
Het |
| Agfg1 |
T |
C |
1: 82,864,117 (GRCm39) |
F395S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,212 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
T |
C |
5: 114,262,014 (GRCm39) |
K239E |
possibly damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,827,290 (GRCm39) |
C87* |
probably null |
Het |
| Apob |
A |
G |
12: 8,039,191 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,034,121 (GRCm39) |
P188S |
possibly damaging |
Het |
| Atp12a |
G |
A |
14: 56,605,870 (GRCm39) |
E64K |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,416,192 (GRCm39) |
H647Q |
possibly damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,498 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,720,039 (GRCm39) |
V429D |
possibly damaging |
Het |
| Cfap299 |
T |
C |
5: 98,714,420 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,128,266 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,353,696 (GRCm39) |
N757K |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,833,432 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Ebf3 |
T |
C |
7: 136,826,932 (GRCm39) |
T111A |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,010 (GRCm39) |
I319T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,363 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,198,716 (GRCm39) |
W809* |
probably null |
Het |
| Hhipl1 |
A |
G |
12: 108,293,980 (GRCm39) |
K629E |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,134,223 (GRCm39) |
S126T |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,580,832 (GRCm39) |
N24S |
probably benign |
Het |
| Htra3 |
T |
A |
5: 35,825,700 (GRCm39) |
I185F |
probably damaging |
Het |
| Impg1 |
C |
T |
9: 80,289,023 (GRCm39) |
D345N |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kdm7a |
A |
G |
6: 39,124,128 (GRCm39) |
V720A |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,912,293 (GRCm39) |
D212G |
possibly damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,283,846 (GRCm39) |
*139K |
probably null |
Het |
| Lrp11 |
T |
A |
10: 7,466,060 (GRCm39) |
V82D |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,051,964 (GRCm39) |
Y425H |
probably benign |
Het |
| Mfn2 |
T |
C |
4: 147,966,658 (GRCm39) |
N511S |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,979,624 (GRCm39) |
S108P |
probably damaging |
Het |
| Ms4a6c |
C |
T |
19: 11,448,506 (GRCm39) |
T13M |
probably benign |
Het |
| Naip2 |
C |
A |
13: 100,315,893 (GRCm39) |
V296F |
probably damaging |
Het |
| Or2d36 |
T |
A |
7: 106,747,294 (GRCm39) |
F257Y |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,217 (GRCm39) |
V254A |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,834 (GRCm39) |
C141S |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,815,998 (GRCm39) |
M172V |
probably benign |
Het |
| Pcolce2 |
T |
G |
9: 95,552,087 (GRCm39) |
N73K |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,111,098 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
A |
G |
7: 44,997,146 (GRCm39) |
|
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,463 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,450,481 (GRCm39) |
|
probably benign |
Het |
| Rpain |
G |
A |
11: 70,865,867 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,147,630 (GRCm39) |
T1754I |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,880 (GRCm39) |
L267Q |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,968,387 (GRCm39) |
I460F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,780,500 (GRCm39) |
Y1084N |
probably damaging |
Het |
| Utp6 |
A |
G |
11: 79,832,694 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGAAATTACAAGACAGAAATTGCCCAAGA -3'
(R):5'- TGGTTGTGGTGAGCATGGTTATAAGTAAAAG -3'
Sequencing Primer
(F):5'- tacatggtggaaggggagg -3'
(R):5'- tgctgagccatcttgcc -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation