Incidental Mutation 'IGL02624:Tex21'
| ID |
300999 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tex21
|
| Ensembl Gene |
ENSMUSG00000021056 |
| Gene Name |
testis expressed gene 21 |
| Synonyms |
4931406F04Rik, tsec-2, 4931412D23Rik, 4931421K24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL02624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
76245460-76293520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76261398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 250
(D250V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021453]
[ENSMUST00000218426]
|
| AlphaFold |
Q9R0U9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021453
AA Change: D250V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021453
Gene: ENSMUSG00000021056
AA Change: D250V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
83 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
308 |
356 |
N/A |
INTRINSIC |
|
coiled coil region
|
409 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218426
AA Change: D250V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220068
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
A |
G |
2: 18,032,004 (GRCm39) |
V38A |
unknown |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Brk1 |
T |
G |
6: 113,581,805 (GRCm39) |
I22M |
possibly damaging |
Het |
| Cd3g |
A |
G |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
| Ces2g |
T |
C |
8: 105,691,380 (GRCm39) |
V172A |
probably damaging |
Het |
| Clcn2 |
G |
T |
16: 20,522,098 (GRCm39) |
S830R |
probably damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,561,321 (GRCm39) |
S114G |
probably benign |
Het |
| Dnali1 |
T |
C |
4: 124,952,791 (GRCm39) |
Q244R |
probably benign |
Het |
| Entpd1 |
A |
T |
19: 40,714,502 (GRCm39) |
K204* |
probably null |
Het |
| Gm5070 |
A |
G |
3: 95,318,219 (GRCm39) |
|
noncoding transcript |
Het |
| Gpsm2 |
G |
T |
3: 108,589,349 (GRCm39) |
D596E |
probably benign |
Het |
| Hectd1 |
C |
T |
12: 51,809,233 (GRCm39) |
A1743T |
possibly damaging |
Het |
| Kcnq5 |
T |
G |
1: 21,472,654 (GRCm39) |
L845F |
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,408,291 (GRCm39) |
I1795N |
probably damaging |
Het |
| Lsp1 |
C |
T |
7: 142,044,288 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,277,185 (GRCm39) |
A213T |
possibly damaging |
Het |
| Mylk |
G |
T |
16: 34,750,266 (GRCm39) |
V1202L |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,848,010 (GRCm39) |
Y1083H |
probably damaging |
Het |
| Ncoa5 |
T |
A |
2: 164,854,981 (GRCm39) |
D47V |
probably damaging |
Het |
| Npat |
C |
T |
9: 53,478,110 (GRCm39) |
T954I |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,682 (GRCm39) |
T195A |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,130 (GRCm39) |
T10S |
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,024,276 (GRCm39) |
I428T |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,079,569 (GRCm39) |
F1211S |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,308,355 (GRCm39) |
E338G |
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,609,459 (GRCm39) |
Y192C |
probably damaging |
Het |
| Tpo |
A |
G |
12: 30,150,413 (GRCm39) |
V489A |
probably benign |
Het |
| Tspo |
T |
C |
15: 83,455,616 (GRCm39) |
M1T |
probably null |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,256,278 (GRCm39) |
G281D |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,304,085 (GRCm39) |
T1300A |
probably benign |
Het |
|
| Other mutations in Tex21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00472:Tex21
|
APN |
12 |
76,253,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00923:Tex21
|
APN |
12 |
76,291,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01062:Tex21
|
APN |
12 |
76,245,718 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01063:Tex21
|
APN |
12 |
76,245,592 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03349:Tex21
|
APN |
12 |
76,268,365 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03387:Tex21
|
APN |
12 |
76,245,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Tex21
|
APN |
12 |
76,291,780 (GRCm39) |
critical splice donor site |
probably null |
|
|
ihop
|
UTSW |
12 |
76,286,229 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0189:Tex21
|
UTSW |
12 |
76,286,307 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0730:Tex21
|
UTSW |
12 |
76,250,940 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1521:Tex21
|
UTSW |
12 |
76,251,044 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1572:Tex21
|
UTSW |
12 |
76,253,665 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1700:Tex21
|
UTSW |
12 |
76,268,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1941:Tex21
|
UTSW |
12 |
76,268,458 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4654:Tex21
|
UTSW |
12 |
76,263,860 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4943:Tex21
|
UTSW |
12 |
76,268,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Tex21
|
UTSW |
12 |
76,245,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6262:Tex21
|
UTSW |
12 |
76,259,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6738:Tex21
|
UTSW |
12 |
76,286,283 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6759:Tex21
|
UTSW |
12 |
76,251,086 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6890:Tex21
|
UTSW |
12 |
76,286,229 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8910:Tex21
|
UTSW |
12 |
76,263,533 (GRCm39) |
unclassified |
probably benign |
|
|
R9547:Tex21
|
UTSW |
12 |
76,253,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Tex21
|
UTSW |
12 |
76,250,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation