Incidental Mutation 'R3412:Tex9'
| ID |
267773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex9
|
| Ensembl Gene |
ENSMUSG00000090626 |
| Gene Name |
testis expressed gene 9 |
| Synonyms |
tsec-1 |
| MMRRC Submission |
040630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R3412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72357676-72399494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72385040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 265
(Q265H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085358]
[ENSMUST00000183574]
[ENSMUST00000183856]
[ENSMUST00000184125]
[ENSMUST00000184557]
[ENSMUST00000184831]
[ENSMUST00000185151]
[ENSMUST00000184312]
|
| AlphaFold |
Q9D845 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085358
AA Change: Q66H
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000082467
Gene: ENSMUSG00000090626
AA Change: Q66H
| 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 |
possibly damaging
Transcript: ENSMUST00000183856
AA Change: Q265H
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139247
Gene: ENSMUSG00000090626
AA Change: Q265H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184125
AA Change: Q265H
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139026
Gene: ENSMUSG00000090626
AA Change: Q265H
| 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: Q265H
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139212
Gene: ENSMUSG00000090626
AA Change: Q265H
| 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: ENSMUST00000184831
AA Change: Q80H
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000138999
Gene: ENSMUSG00000090626
AA Change: Q80H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
159 |
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: ENSMUST00000185151
|
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
T |
C |
13: 8,802,654 (GRCm39) |
F643S |
probably damaging |
Het |
| Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,724 (GRCm39) |
I492V |
probably benign |
Het |
| Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,415,545 (GRCm39) |
|
probably benign |
Het |
| Duxf4 |
G |
A |
10: 58,072,175 (GRCm39) |
T13I |
possibly damaging |
Het |
| Esp24 |
T |
A |
17: 39,349,207 (GRCm39) |
I11N |
possibly damaging |
Het |
| Exoc4 |
A |
G |
6: 33,242,910 (GRCm39) |
E41G |
probably damaging |
Het |
| Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
| Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
| Gria4 |
T |
A |
9: 4,513,278 (GRCm39) |
D277V |
probably benign |
Het |
| Il18r1 |
A |
T |
1: 40,530,227 (GRCm39) |
D318V |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
| Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
| Krt90 |
T |
A |
15: 101,469,028 (GRCm39) |
L171F |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,523 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
T |
C |
7: 102,423,962 (GRCm39) |
L77P |
possibly damaging |
Het |
| Or51q1 |
T |
C |
7: 103,628,609 (GRCm39) |
L76P |
probably damaging |
Het |
| Or5an1c |
T |
C |
19: 12,218,954 (GRCm39) |
I24V |
probably benign |
Het |
| Or6c1b |
A |
T |
10: 129,273,176 (GRCm39) |
D165V |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
| Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
| Prss43 |
G |
C |
9: 110,658,532 (GRCm39) |
Q277H |
probably damaging |
Het |
| Ramp2 |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
11: 101,137,371 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,810,351 (GRCm39) |
D10G |
probably benign |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,714,146 (GRCm39) |
D1108G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,336,724 (GRCm39) |
T2369A |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,470,030 (GRCm39) |
I933V |
possibly damaging |
Het |
| Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,004,479 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
| Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
probably damaging |
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 |
|
R0962:Tex9
|
UTSW |
9 |
72,391,374 (GRCm39) |
missense |
probably benign |
|
|
R2212: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'- AATCAACCCCAGCGACTGTG -3'
(R):5'- CCAAGACCATCTGAGGCTCTTG -3'
Sequencing Primer
(F):5'- ACGGACTGAACTGCGTACTTTAC -3'
(R):5'- AAGACCATCTGAGGCTCTTGTTTTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation