Incidental Mutation 'IGL01979:Tex55'
ID |
181798 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tex55
|
Ensembl Gene |
ENSMUSG00000022798 |
Gene Name |
testis expressed 55 |
Synonyms |
4930435E12Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL01979
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
38632568-38649111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 38648255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 285
(S285A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122078]
|
AlphaFold |
A6X8Z9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122078
AA Change: S285A
PolyPhen 2
Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113120 Gene: ENSMUSG00000022798 AA Change: S285A
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
97 |
N/A |
INTRINSIC |
low complexity region
|
244 |
254 |
N/A |
INTRINSIC |
low complexity region
|
307 |
317 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130241
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148657
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209595
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,584,971 (GRCm39) |
L394* |
probably null |
Het |
Cdk2ap1 |
C |
T |
5: 124,486,772 (GRCm39) |
V57M |
probably damaging |
Het |
Csnk2b |
T |
A |
17: 35,336,992 (GRCm39) |
N65I |
possibly damaging |
Het |
Dennd4a |
G |
A |
9: 64,801,691 (GRCm39) |
E945K |
probably benign |
Het |
Eif2b2 |
A |
G |
12: 85,266,608 (GRCm39) |
D59G |
probably benign |
Het |
Ero1a |
A |
T |
14: 45,525,201 (GRCm39) |
N441K |
probably damaging |
Het |
Fam91a1 |
A |
G |
15: 58,304,433 (GRCm39) |
D383G |
probably damaging |
Het |
Fbxl7 |
C |
A |
15: 26,789,649 (GRCm39) |
S26I |
probably damaging |
Het |
Il20 |
A |
T |
1: 130,838,839 (GRCm39) |
I42K |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,540,790 (GRCm39) |
F1947L |
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,983,261 (GRCm39) |
|
probably null |
Het |
Numb |
G |
T |
12: 83,889,051 (GRCm39) |
H23N |
probably damaging |
Het |
Or10q3 |
G |
A |
19: 11,848,587 (GRCm39) |
|
probably benign |
Het |
Or5p79 |
A |
G |
7: 108,221,648 (GRCm39) |
I210V |
probably benign |
Het |
Ppp1r1b |
C |
T |
11: 98,247,666 (GRCm39) |
T111I |
probably damaging |
Het |
Rad50 |
G |
A |
11: 53,577,005 (GRCm39) |
Q528* |
probably null |
Het |
Scara3 |
A |
T |
14: 66,168,412 (GRCm39) |
S402T |
probably benign |
Het |
Septin3 |
A |
G |
15: 82,168,593 (GRCm39) |
Y132C |
probably damaging |
Het |
Sim2 |
C |
A |
16: 93,924,341 (GRCm39) |
N495K |
possibly damaging |
Het |
Slc9b1 |
A |
G |
3: 135,077,743 (GRCm39) |
|
probably null |
Het |
Tanc2 |
A |
G |
11: 105,667,746 (GRCm39) |
D109G |
probably benign |
Het |
Traf1 |
T |
C |
2: 34,833,905 (GRCm39) |
I404V |
probably benign |
Het |
Vmn2r68 |
C |
A |
7: 84,871,325 (GRCm39) |
V653L |
probably benign |
Het |
Wdr93 |
A |
T |
7: 79,426,400 (GRCm39) |
Q555L |
probably benign |
Het |
|
Other mutations in Tex55 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01998:Tex55
|
APN |
16 |
38,648,586 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02454:Tex55
|
APN |
16 |
38,648,309 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03216:Tex55
|
APN |
16 |
38,649,052 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL03325:Tex55
|
APN |
16 |
38,648,355 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03397:Tex55
|
APN |
16 |
38,649,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R7924_4930435E12Rik_239
|
UTSW |
16 |
38,632,826 (GRCm39) |
nonsense |
probably null |
|
BB001:Tex55
|
UTSW |
16 |
38,632,826 (GRCm39) |
nonsense |
probably null |
|
BB011:Tex55
|
UTSW |
16 |
38,632,826 (GRCm39) |
nonsense |
probably null |
|
R0242:Tex55
|
UTSW |
16 |
38,644,929 (GRCm39) |
splice site |
probably benign |
|
R0446:Tex55
|
UTSW |
16 |
38,649,064 (GRCm39) |
missense |
probably benign |
0.01 |
R0607:Tex55
|
UTSW |
16 |
38,648,726 (GRCm39) |
missense |
probably benign |
0.02 |
R1918:Tex55
|
UTSW |
16 |
38,648,450 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1953:Tex55
|
UTSW |
16 |
38,648,275 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3417:Tex55
|
UTSW |
16 |
38,649,102 (GRCm39) |
missense |
probably benign |
0.17 |
R4601:Tex55
|
UTSW |
16 |
38,648,380 (GRCm39) |
missense |
probably benign |
0.14 |
R4860:Tex55
|
UTSW |
16 |
38,648,507 (GRCm39) |
missense |
probably damaging |
0.97 |
R4860:Tex55
|
UTSW |
16 |
38,648,507 (GRCm39) |
missense |
probably damaging |
0.97 |
R5551:Tex55
|
UTSW |
16 |
38,648,336 (GRCm39) |
missense |
probably benign |
0.28 |
R7568:Tex55
|
UTSW |
16 |
38,648,809 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7623:Tex55
|
UTSW |
16 |
38,648,453 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7643:Tex55
|
UTSW |
16 |
38,648,225 (GRCm39) |
missense |
probably benign |
0.15 |
R7669:Tex55
|
UTSW |
16 |
38,648,453 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7670:Tex55
|
UTSW |
16 |
38,648,453 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7671:Tex55
|
UTSW |
16 |
38,648,453 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7924:Tex55
|
UTSW |
16 |
38,632,826 (GRCm39) |
nonsense |
probably null |
|
R9385:Tex55
|
UTSW |
16 |
38,648,407 (GRCm39) |
missense |
probably benign |
0.11 |
RF013:Tex55
|
UTSW |
16 |
38,648,363 (GRCm39) |
missense |
probably benign |
0.37 |
|
Posted On |
2014-05-07 |