Incidental Mutation 'IGL00472:Tex21'
ID |
4397 |
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: 0.107)
|
Stock # |
IGL00472
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
76245460-76293520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76253571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 447
(N447K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021453]
[ENSMUST00000218426]
|
AlphaFold |
Q9R0U9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021453
AA Change: N447K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021453 Gene: ENSMUSG00000021056 AA Change: N447K
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: N447K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg2a |
A |
G |
3: 37,490,793 (GRCm39) |
H446R |
probably benign |
Het |
Alpk3 |
C |
T |
7: 80,745,401 (GRCm39) |
|
probably benign |
Het |
Atp8b1 |
T |
A |
18: 64,697,501 (GRCm39) |
I448F |
probably benign |
Het |
C2cd2l |
A |
G |
9: 44,228,400 (GRCm39) |
L156P |
probably damaging |
Het |
Cbll1 |
G |
A |
12: 31,537,832 (GRCm39) |
P308S |
probably damaging |
Het |
Ccl3 |
C |
T |
11: 83,539,467 (GRCm39) |
S39N |
possibly damaging |
Het |
Cnih4 |
G |
T |
1: 180,989,659 (GRCm39) |
G30C |
probably damaging |
Het |
Endod1 |
A |
T |
9: 14,268,049 (GRCm39) |
F479I |
possibly damaging |
Het |
Gm572 |
T |
G |
4: 148,751,849 (GRCm39) |
V238G |
possibly damaging |
Het |
Grhl1 |
G |
T |
12: 24,662,169 (GRCm39) |
R536L |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,004,520 (GRCm39) |
K269R |
probably benign |
Het |
Nin |
C |
A |
12: 70,076,862 (GRCm39) |
M1064I |
probably damaging |
Het |
Pnkd |
A |
G |
1: 74,325,081 (GRCm39) |
K50E |
probably damaging |
Het |
Rpl39l |
A |
G |
16: 9,992,258 (GRCm39) |
M29V |
probably benign |
Het |
Strip2 |
C |
T |
6: 29,931,213 (GRCm39) |
A388V |
probably benign |
Het |
Zfp760 |
A |
G |
17: 21,942,457 (GRCm39) |
Y544C |
possibly damaging |
Het |
|
Other mutations in Tex21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02624:Tex21
|
APN |
12 |
76,261,398 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-04-20 |