Incidental Mutation 'IGL03216:Tex55'
ID |
413483 |
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 # |
IGL03216
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
38632568-38649111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38649052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 19
(D19G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122078]
|
AlphaFold |
A6X8Z9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122078
AA Change: D19G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113120 Gene: ENSMUSG00000022798 AA Change: D19G
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano10 |
A |
T |
9: 122,086,127 (GRCm39) |
Y491N |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,558,840 (GRCm39) |
F709L |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,439,944 (GRCm38) |
I1196T |
probably damaging |
Het |
Cage1 |
T |
C |
13: 38,190,153 (GRCm39) |
|
probably benign |
Het |
Cep350 |
A |
T |
1: 155,736,373 (GRCm39) |
C2888S |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,844,932 (GRCm39) |
T46A |
possibly damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,677,462 (GRCm39) |
M76V |
probably benign |
Het |
Fermt3 |
A |
T |
19: 6,976,748 (GRCm39) |
D653E |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,467,180 (GRCm39) |
|
probably benign |
Het |
Gm21985 |
T |
A |
2: 112,097,281 (GRCm39) |
S39T |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,386,228 (GRCm39) |
D3727V |
probably benign |
Het |
Ifi208 |
A |
T |
1: 173,506,507 (GRCm39) |
T97S |
possibly damaging |
Het |
Iqgap1 |
T |
C |
7: 80,392,836 (GRCm39) |
E709G |
probably benign |
Het |
Itgb5 |
T |
A |
16: 33,723,208 (GRCm39) |
H361Q |
probably benign |
Het |
Mr1 |
T |
A |
1: 155,005,035 (GRCm39) |
N335I |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,351,582 (GRCm39) |
F684I |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,455,721 (GRCm39) |
I2544F |
probably benign |
Het |
Or6c1b |
A |
G |
10: 129,272,806 (GRCm39) |
T42A |
probably damaging |
Het |
Pnp2 |
T |
G |
14: 51,200,654 (GRCm39) |
S107A |
probably benign |
Het |
Pomt1 |
A |
G |
2: 32,132,955 (GRCm39) |
I184V |
probably damaging |
Het |
Slc6a19 |
T |
G |
13: 73,834,300 (GRCm39) |
M301L |
probably benign |
Het |
Smarca5 |
T |
C |
8: 81,446,287 (GRCm39) |
Y471C |
probably damaging |
Het |
Syne2 |
A |
T |
12: 75,989,735 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,624,553 (GRCm39) |
C1799Y |
probably damaging |
Het |
Trmt6 |
T |
C |
2: 132,650,618 (GRCm39) |
N330S |
probably null |
Het |
Tsc22d1 |
T |
C |
14: 76,656,077 (GRCm39) |
V770A |
probably benign |
Het |
Ttll6 |
A |
G |
11: 96,042,840 (GRCm39) |
D462G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,775,393 (GRCm39) |
H1883R |
probably damaging |
Het |
Ubxn10 |
C |
T |
4: 138,448,050 (GRCm39) |
V209M |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,585,002 (GRCm39) |
T540A |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,600,756 (GRCm39) |
R685W |
probably damaging |
Het |
Vps4a |
C |
T |
8: 107,763,335 (GRCm39) |
R30C |
probably damaging |
Het |
Xpo6 |
A |
G |
7: 125,703,985 (GRCm39) |
V1055A |
probably damaging |
Het |
Zfp445 |
C |
T |
9: 122,681,043 (GRCm39) |
C966Y |
probably damaging |
Het |
|
Other mutations in Tex55 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01979:Tex55
|
APN |
16 |
38,648,255 (GRCm39) |
missense |
possibly damaging |
0.61 |
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 |
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 |
2016-08-02 |