Incidental Mutation 'R6890:Tex21'
ID |
537165 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex21
|
Ensembl Gene |
ENSMUSG00000021056 |
Gene Name |
testis expressed gene 21 |
Synonyms |
4931406F04Rik, tsec-2, 4931412D23Rik, 4931421K24Rik |
MMRRC Submission |
044984-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R6890 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
76245460-76293520 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 76286229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021453]
[ENSMUST00000021453]
[ENSMUST00000218426]
[ENSMUST00000218426]
[ENSMUST00000219327]
[ENSMUST00000219327]
|
AlphaFold |
Q9R0U9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021453
|
SMART Domains |
Protein: ENSMUSP00000021453 Gene: ENSMUSG00000021056
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 null
Transcript: ENSMUST00000021453
|
SMART Domains |
Protein: ENSMUSP00000021453 Gene: ENSMUSG00000021056
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 null
Transcript: ENSMUST00000218426
|
Predicted Effect |
probably null
Transcript: ENSMUST00000218426
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219327
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219327
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGACTTCTAAAAGCACTGAATGAGG -3'
(R):5'- GGTTTTGATCCACAGGGCAC -3'
Sequencing Primer
(F):5'- CTGAATGAGGCACCATCTTCAGTAG -3'
(R):5'- TGATCCACAGGGCACATATTTCG -3'
|
Posted On |
2018-10-18 |