Incidental Mutation 'R9767:Tex9'
| ID |
733340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex9
|
| Ensembl Gene |
ENSMUSG00000090626 |
| Gene Name |
testis expressed gene 9 |
| Synonyms |
tsec-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R9767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
72357676-72399494 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 72368518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 377
(E377*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034746]
[ENSMUST00000085358]
[ENSMUST00000183574]
[ENSMUST00000183856]
[ENSMUST00000184125]
[ENSMUST00000184312]
[ENSMUST00000184557]
[ENSMUST00000184831]
|
| AlphaFold |
Q9D845 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034746
|
| SMART Domains |
Protein: ENSMUSP00000034746
Gene: ENSMUSG00000032221
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPH
|
117 |
462 |
3.1e-76 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000085358
AA Change: E178*
|
| SMART Domains |
Protein: ENSMUSP00000082467
Gene: ENSMUSG00000090626
AA Change: E178*
| 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 |
probably null
Transcript: ENSMUST00000183574
AA Change: E319*
|
| SMART Domains |
Protein: ENSMUSP00000139386
Gene: ENSMUSG00000090626
AA Change: E319*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139247
Gene: ENSMUSG00000090626
| 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 null
Transcript: ENSMUST00000184125
AA Change: E377*
|
| SMART Domains |
Protein: ENSMUSP00000139026
Gene: ENSMUSG00000090626
AA Change: E377*
| 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: 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: ENSMUST00000184557
|
| SMART Domains |
Protein: ENSMUSP00000139212
Gene: ENSMUSG00000090626
| 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 null
Transcript: ENSMUST00000184831
AA Change: E192*
|
| SMART Domains |
Protein: ENSMUSP00000138999
Gene: ENSMUSG00000090626
AA Change: E192*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
159 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
T |
3: 151,207,394 (GRCm39) |
M314L |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,823,799 (GRCm39) |
S41P |
probably damaging |
Het |
| Aox4 |
A |
C |
1: 58,274,357 (GRCm39) |
N381T |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,751,148 (GRCm39) |
|
probably null |
Het |
| Cep350 |
A |
G |
1: 155,739,018 (GRCm39) |
V2275A |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,655,395 (GRCm39) |
G831E |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dchs2 |
A |
G |
3: 83,212,206 (GRCm39) |
I2002V |
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,483,709 (GRCm39) |
R384C |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,342,796 (GRCm39) |
T136A |
possibly damaging |
Het |
| Eif2s2 |
A |
T |
2: 154,730,125 (GRCm39) |
D57E |
probably benign |
Het |
| Eml2 |
C |
T |
7: 18,920,083 (GRCm39) |
T129I |
probably benign |
Het |
| Flad1 |
A |
C |
3: 89,310,718 (GRCm39) |
I443S |
probably benign |
Het |
| Glis1 |
A |
T |
4: 107,491,794 (GRCm39) |
T741S |
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,818,297 (GRCm39) |
Y331C |
probably damaging |
Het |
| Lrwd1 |
C |
T |
5: 136,162,856 (GRCm39) |
V122M |
possibly damaging |
Het |
| Ndufs2 |
G |
T |
1: 171,068,643 (GRCm39) |
P89Q |
probably damaging |
Het |
| Nkx1-2 |
C |
T |
7: 132,199,402 (GRCm39) |
V120I |
probably benign |
Het |
| Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
| Or7a41 |
T |
C |
10: 78,870,765 (GRCm39) |
L45P |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,096 (GRCm39) |
I183N |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,484,636 (GRCm39) |
D1973G |
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,718,101 (GRCm39) |
S938P |
probably benign |
Het |
| Prss27 |
G |
T |
17: 24,257,283 (GRCm39) |
M1I |
probably null |
Het |
| Rai14 |
T |
C |
15: 10,610,127 (GRCm39) |
T74A |
probably benign |
Het |
| Rcc2 |
C |
T |
4: 140,435,331 (GRCm39) |
R117W |
probably damaging |
Het |
| Rpl31 |
T |
A |
1: 39,410,189 (GRCm39) |
*130R |
probably null |
Het |
| Rplp0 |
T |
C |
5: 115,699,563 (GRCm39) |
S213P |
probably benign |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,057 (GRCm39) |
I152T |
probably damaging |
Het |
| Senp3 |
T |
C |
11: 69,569,013 (GRCm39) |
T383A |
possibly damaging |
Het |
| Sod2 |
C |
A |
17: 13,227,180 (GRCm39) |
Q45K |
probably benign |
Het |
| Speg |
A |
T |
1: 75,403,825 (GRCm39) |
I2669F |
possibly damaging |
Het |
| Stat4 |
T |
G |
1: 52,141,653 (GRCm39) |
F577V |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,875,977 (GRCm39) |
V119D |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,079,234 (GRCm39) |
S1800P |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,212,274 (GRCm39) |
D96G |
probably damaging |
Het |
| Vmn2r51 |
G |
T |
7: 9,839,407 (GRCm39) |
N60K |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,910,403 (GRCm39) |
D3389G |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,879,306 (GRCm39) |
E1506K |
|
Het |
| Zfp1 |
A |
G |
8: 112,396,203 (GRCm39) |
N75D |
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 |
|
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 |
|
X0024:Tex9
|
UTSW |
9 |
72,387,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTCTCCCAGGTCTAGTAG -3'
(R):5'- ACAGCCCTCTCTCGTTACAAAG -3'
Sequencing Primer
(F):5'- CTCCCAGGTCTAGTAGGTCATAAAAG -3'
(R):5'- GCCCTCTCTCGTTACAAAGATCAGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation