Incidental Mutation 'IGL00673:Tex47'
| ID |
8452 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tex47
|
| Ensembl Gene |
ENSMUSG00000040514 |
| Gene Name |
testis expressed 47 |
| Synonyms |
4921511H03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
7354119-7361491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7355211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 131
(I131F)
|
| 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: I131F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086176
Gene: ENSMUSG00000040514
AA Change: I131F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BLUF
|
47 |
146 |
2e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159546
AA Change: I131F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124368
Gene: ENSMUSG00000040514
AA Change: I131F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BLUF
|
47 |
146 |
2e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160634
AA Change: I131F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125471
Gene: ENSMUSG00000040514
AA Change: I131F
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
C |
9: 90,075,714 (GRCm39) |
S1191P |
possibly damaging |
Het |
| Alg2 |
C |
T |
4: 47,472,329 (GRCm39) |
D160N |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,442 (GRCm39) |
F487Y |
possibly damaging |
Het |
| Cdc27 |
A |
G |
11: 104,419,261 (GRCm39) |
Y224H |
probably damaging |
Het |
| Cdhr1 |
A |
G |
14: 36,807,485 (GRCm39) |
V385A |
probably benign |
Het |
| Cep128 |
G |
T |
12: 91,200,965 (GRCm39) |
H31Q |
probably benign |
Het |
| Ehd4 |
A |
G |
2: 119,932,701 (GRCm39) |
S242P |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,582,078 (GRCm39) |
F647L |
probably damaging |
Het |
| Itgbl1 |
C |
T |
14: 124,083,844 (GRCm39) |
|
probably benign |
Het |
| Kcnj3 |
G |
T |
2: 55,485,284 (GRCm39) |
D461Y |
possibly damaging |
Het |
| Kcnq3 |
G |
A |
15: 65,867,120 (GRCm39) |
T841M |
probably damaging |
Het |
| Kcnt2 |
T |
G |
1: 140,523,789 (GRCm39) |
N1103K |
possibly damaging |
Het |
| Mib1 |
A |
G |
18: 10,798,490 (GRCm39) |
S784G |
probably benign |
Het |
| Miga2 |
T |
G |
2: 30,257,729 (GRCm39) |
M9R |
probably benign |
Het |
| Pals1 |
C |
A |
12: 78,876,573 (GRCm39) |
R506S |
possibly damaging |
Het |
| Prl2a1 |
T |
C |
13: 27,992,436 (GRCm39) |
S187P |
probably damaging |
Het |
| Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
| Ptdss2 |
G |
T |
7: 140,723,038 (GRCm39) |
C84F |
probably benign |
Het |
| Recql |
T |
A |
6: 142,322,647 (GRCm39) |
N85I |
probably null |
Het |
| Tlk1 |
G |
T |
2: 70,575,860 (GRCm39) |
Q323K |
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 |
|
|
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 |
|
|
R6580:Tex47
|
UTSW |
5 |
7,355,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation