Incidental Mutation 'R6580:Tex47'
| ID |
524070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex47
|
| Ensembl Gene |
ENSMUSG00000040514 |
| Gene Name |
testis expressed 47 |
| Synonyms |
4921511H03Rik |
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
7354119-7361491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7355212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 131
(I131T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088796]
[ENSMUST00000159546]
[ENSMUST00000160634]
[ENSMUST00000200317]
|
| AlphaFold |
Q9D5W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088796
AA Change: I131T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086176
Gene: ENSMUSG00000040514
AA Change: I131T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BLUF
|
47 |
146 |
2e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159546
AA Change: I131T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124368
Gene: ENSMUSG00000040514
AA Change: I131T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BLUF
|
47 |
146 |
2e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160634
AA Change: I131T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125471
Gene: ENSMUSG00000040514
AA Change: I131T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BLUF
|
47 |
146 |
2e-20 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200317
|
| SMART Domains |
Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
56 |
80 |
2e-2 |
SMART |
|
low complexity region
|
958 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
1155 |
1179 |
N/A |
INTRINSIC |
|
low complexity region
|
1196 |
1207 |
N/A |
INTRINSIC |
|
low complexity region
|
1215 |
1234 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4259 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
| Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
probably damaging |
Het |
|
| Other mutations in Tex47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Tex47
|
APN |
5 |
7,355,468 (GRCm39) |
nonsense |
probably null |
|
|
IGL00673:Tex47
|
APN |
5 |
7,355,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Tex47
|
UTSW |
5 |
7,355,011 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0648:Tex47
|
UTSW |
5 |
7,355,215 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1911:Tex47
|
UTSW |
5 |
7,355,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2163:Tex47
|
UTSW |
5 |
7,355,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3690:Tex47
|
UTSW |
5 |
7,354,777 (GRCm39) |
intron |
probably benign |
|
|
R3762:Tex47
|
UTSW |
5 |
7,355,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4423:Tex47
|
UTSW |
5 |
7,355,364 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4424:Tex47
|
UTSW |
5 |
7,355,364 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5107:Tex47
|
UTSW |
5 |
7,354,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5379:Tex47
|
UTSW |
5 |
7,354,843 (GRCm39) |
missense |
probably null |
0.01 |
|
R5589:Tex47
|
UTSW |
5 |
7,354,834 (GRCm39) |
missense |
probably benign |
|
|
R6265:Tex47
|
UTSW |
5 |
7,355,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6325:Tex47
|
UTSW |
5 |
7,354,935 (GRCm39) |
nonsense |
probably null |
|
|
R8390:Tex47
|
UTSW |
5 |
7,355,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8889:Tex47
|
UTSW |
5 |
7,355,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8892:Tex47
|
UTSW |
5 |
7,355,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9416:Tex47
|
UTSW |
5 |
7,355,194 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCTACATACAAGGCAAC -3'
(R):5'- TCTTGTAAAGTTGGAGTGCCAG -3'
Sequencing Primer
(F):5'- GGACATCTCTGAGTACTATGAGC -3'
(R):5'- AGTGCCAGTTTGTGAGTCATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation