Incidental Mutation 'R6879:Tex2'
ID |
536565 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex2
|
Ensembl Gene |
ENSMUSG00000040548 |
Gene Name |
testis expressed gene 2 |
Synonyms |
4930568E07Rik, Taz4, Def-5 |
MMRRC Submission |
044975-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6879 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106424836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 812
(E812G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
|
AlphaFold |
Q6ZPJ0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: E812G
|
SMART Domains |
Protein: ENSMUSP00000041985 Gene: ENSMUSG00000040548 AA Change: E812G
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
186 |
N/A |
INTRINSIC |
low complexity region
|
319 |
341 |
N/A |
INTRINSIC |
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
PH
|
543 |
712 |
5.05e-1 |
SMART |
low complexity region
|
732 |
752 |
N/A |
INTRINSIC |
low complexity region
|
811 |
823 |
N/A |
INTRINSIC |
low complexity region
|
946 |
965 |
N/A |
INTRINSIC |
low complexity region
|
1003 |
1016 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000207249
AA Change: E314G
|
Meta Mutation Damage Score |
0.0586 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat3 |
A |
G |
10: 80,442,621 (GRCm39) |
D153G |
probably damaging |
Het |
Agap1 |
A |
T |
1: 89,694,177 (GRCm39) |
I492F |
probably benign |
Het |
Arhgap31 |
G |
A |
16: 38,422,676 (GRCm39) |
T1130I |
probably benign |
Het |
Atg2a |
T |
A |
19: 6,301,882 (GRCm39) |
C923S |
possibly damaging |
Het |
B3gnt8 |
C |
A |
7: 25,328,277 (GRCm39) |
Q236K |
probably benign |
Het |
Bptf |
T |
G |
11: 106,933,516 (GRCm39) |
I261L |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,043,697 (GRCm39) |
F1592S |
probably benign |
Het |
Catspere2 |
A |
T |
1: 177,926,338 (GRCm39) |
T335S |
possibly damaging |
Het |
Cops7a |
A |
T |
6: 124,935,748 (GRCm39) |
|
probably null |
Het |
Defb10 |
A |
G |
8: 22,351,898 (GRCm39) |
I48V |
probably benign |
Het |
Gabrg3 |
A |
C |
7: 57,031,387 (GRCm39) |
L51R |
probably damaging |
Het |
Gins2 |
G |
A |
8: 121,312,850 (GRCm39) |
T96M |
probably damaging |
Het |
Gm11568 |
A |
G |
11: 99,749,053 (GRCm39) |
Q86R |
unknown |
Het |
Il33 |
T |
C |
19: 29,936,362 (GRCm39) |
V224A |
probably damaging |
Het |
Kcnh3 |
C |
A |
15: 99,136,048 (GRCm39) |
Q682K |
probably damaging |
Het |
Kif19a |
A |
G |
11: 114,672,159 (GRCm39) |
I249V |
probably benign |
Het |
Kif26a |
T |
C |
12: 112,144,087 (GRCm39) |
V1447A |
probably benign |
Het |
Klhdc10 |
T |
A |
6: 30,449,589 (GRCm39) |
M217K |
probably damaging |
Het |
Mcc |
T |
C |
18: 44,945,179 (GRCm39) |
S18G |
unknown |
Het |
Mical1 |
A |
T |
10: 41,360,515 (GRCm39) |
Q651H |
probably damaging |
Het |
Mpdz |
G |
A |
4: 81,266,893 (GRCm39) |
T340I |
possibly damaging |
Het |
Or5b95 |
T |
C |
19: 12,658,135 (GRCm39) |
I221T |
probably benign |
Het |
Or6c202 |
T |
G |
10: 128,996,848 (GRCm39) |
K2Q |
probably benign |
Het |
Pira12 |
A |
T |
7: 3,899,961 (GRCm39) |
S214T |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,187,793 (GRCm39) |
M105L |
possibly damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,518,179 (GRCm39) |
|
probably null |
Het |
Samd12 |
T |
C |
15: 53,521,826 (GRCm39) |
N128S |
probably benign |
Het |
Six6 |
A |
G |
12: 72,987,298 (GRCm39) |
K157E |
probably benign |
Het |
Slc13a3 |
C |
A |
2: 165,272,221 (GRCm39) |
G274V |
probably damaging |
Het |
Slc25a54 |
T |
A |
3: 109,020,150 (GRCm39) |
V388E |
possibly damaging |
Het |
Smad2 |
A |
G |
18: 76,395,725 (GRCm39) |
T55A |
possibly damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spats2 |
T |
C |
15: 99,071,293 (GRCm39) |
V39A |
probably damaging |
Het |
Stk32b |
A |
G |
5: 37,647,867 (GRCm39) |
I167T |
possibly damaging |
Het |
Taf1b |
T |
A |
12: 24,550,516 (GRCm39) |
C34S |
possibly damaging |
Het |
Tlcd2 |
T |
A |
11: 75,360,514 (GRCm39) |
W186R |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,803,922 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,239,271 (GRCm39) |
K1387R |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,115,046 (GRCm39) |
|
probably null |
Het |
Usp21 |
T |
C |
1: 171,110,077 (GRCm39) |
D538G |
probably damaging |
Het |
Zfp109 |
C |
T |
7: 23,928,615 (GRCm39) |
E265K |
probably benign |
Het |
Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
probably damaging |
Het |
|
Other mutations in Tex2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Tex2
|
APN |
11 |
106,459,361 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01380:Tex2
|
APN |
11 |
106,435,141 (GRCm39) |
nonsense |
probably null |
|
IGL02607:Tex2
|
APN |
11 |
106,437,573 (GRCm39) |
missense |
unknown |
|
IGL02680:Tex2
|
APN |
11 |
106,459,058 (GRCm39) |
unclassified |
probably benign |
|
IGL02699:Tex2
|
APN |
11 |
106,459,259 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03187:Tex2
|
APN |
11 |
106,458,903 (GRCm39) |
unclassified |
probably benign |
|
IGL03398:Tex2
|
APN |
11 |
106,459,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Tex2
|
UTSW |
11 |
106,410,781 (GRCm39) |
nonsense |
probably null |
|
R0242:Tex2
|
UTSW |
11 |
106,410,781 (GRCm39) |
nonsense |
probably null |
|
R1085:Tex2
|
UTSW |
11 |
106,459,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R1491:Tex2
|
UTSW |
11 |
106,394,466 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1664:Tex2
|
UTSW |
11 |
106,458,608 (GRCm39) |
unclassified |
probably benign |
|
R1794:Tex2
|
UTSW |
11 |
106,458,728 (GRCm39) |
unclassified |
probably benign |
|
R1855:Tex2
|
UTSW |
11 |
106,437,702 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2077:Tex2
|
UTSW |
11 |
106,397,690 (GRCm39) |
splice site |
probably null |
|
R2151:Tex2
|
UTSW |
11 |
106,458,161 (GRCm39) |
unclassified |
probably benign |
|
R2175:Tex2
|
UTSW |
11 |
106,394,513 (GRCm39) |
missense |
unknown |
|
R2984:Tex2
|
UTSW |
11 |
106,437,489 (GRCm39) |
critical splice donor site |
probably null |
|
R3156:Tex2
|
UTSW |
11 |
106,424,695 (GRCm39) |
critical splice donor site |
probably null |
|
R3722:Tex2
|
UTSW |
11 |
106,437,566 (GRCm39) |
nonsense |
probably null |
|
R3724:Tex2
|
UTSW |
11 |
106,420,156 (GRCm39) |
missense |
unknown |
|
R3770:Tex2
|
UTSW |
11 |
106,435,078 (GRCm39) |
missense |
unknown |
|
R3771:Tex2
|
UTSW |
11 |
106,437,720 (GRCm39) |
missense |
unknown |
|
R3813:Tex2
|
UTSW |
11 |
106,402,770 (GRCm39) |
missense |
unknown |
|
R3947:Tex2
|
UTSW |
11 |
106,410,829 (GRCm39) |
missense |
unknown |
|
R4206:Tex2
|
UTSW |
11 |
106,458,398 (GRCm39) |
unclassified |
probably benign |
|
R4342:Tex2
|
UTSW |
11 |
106,457,832 (GRCm39) |
unclassified |
probably benign |
|
R4554:Tex2
|
UTSW |
11 |
106,435,212 (GRCm39) |
missense |
unknown |
|
R4896:Tex2
|
UTSW |
11 |
106,459,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R5207:Tex2
|
UTSW |
11 |
106,437,666 (GRCm39) |
missense |
unknown |
|
R5249:Tex2
|
UTSW |
11 |
106,437,615 (GRCm39) |
missense |
unknown |
|
R5257:Tex2
|
UTSW |
11 |
106,458,585 (GRCm39) |
unclassified |
probably benign |
|
R5258:Tex2
|
UTSW |
11 |
106,458,585 (GRCm39) |
unclassified |
probably benign |
|
R5278:Tex2
|
UTSW |
11 |
106,458,639 (GRCm39) |
missense |
probably benign |
0.34 |
R5702:Tex2
|
UTSW |
11 |
106,435,221 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5835:Tex2
|
UTSW |
11 |
106,410,739 (GRCm39) |
missense |
unknown |
|
R6150:Tex2
|
UTSW |
11 |
106,457,906 (GRCm39) |
missense |
probably benign |
0.34 |
R6785:Tex2
|
UTSW |
11 |
106,424,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R7038:Tex2
|
UTSW |
11 |
106,402,726 (GRCm39) |
critical splice donor site |
probably null |
|
R7117:Tex2
|
UTSW |
11 |
106,435,071 (GRCm39) |
missense |
unknown |
|
R7336:Tex2
|
UTSW |
11 |
106,439,685 (GRCm39) |
missense |
unknown |
|
R7568:Tex2
|
UTSW |
11 |
106,439,562 (GRCm39) |
missense |
unknown |
|
R7622:Tex2
|
UTSW |
11 |
106,437,721 (GRCm39) |
missense |
unknown |
|
R8228:Tex2
|
UTSW |
11 |
106,457,997 (GRCm39) |
missense |
probably benign |
0.34 |
R8407:Tex2
|
UTSW |
11 |
106,459,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R8807:Tex2
|
UTSW |
11 |
106,458,414 (GRCm39) |
missense |
unknown |
|
R8807:Tex2
|
UTSW |
11 |
106,435,194 (GRCm39) |
missense |
unknown |
|
R8882:Tex2
|
UTSW |
11 |
106,435,062 (GRCm39) |
missense |
unknown |
|
R8926:Tex2
|
UTSW |
11 |
106,459,230 (GRCm39) |
missense |
|
|
R8936:Tex2
|
UTSW |
11 |
106,458,144 (GRCm39) |
nonsense |
probably null |
|
R8988:Tex2
|
UTSW |
11 |
106,402,731 (GRCm39) |
missense |
unknown |
|
R9165:Tex2
|
UTSW |
11 |
106,458,095 (GRCm39) |
missense |
unknown |
|
R9294:Tex2
|
UTSW |
11 |
106,459,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9314:Tex2
|
UTSW |
11 |
106,435,075 (GRCm39) |
missense |
unknown |
|
R9405:Tex2
|
UTSW |
11 |
106,435,214 (GRCm39) |
missense |
unknown |
|
R9419:Tex2
|
UTSW |
11 |
106,457,835 (GRCm39) |
nonsense |
probably null |
|
R9477:Tex2
|
UTSW |
11 |
106,410,706 (GRCm39) |
critical splice donor site |
probably null |
|
R9626:Tex2
|
UTSW |
11 |
106,437,579 (GRCm39) |
missense |
unknown |
|
R9634:Tex2
|
UTSW |
11 |
106,458,978 (GRCm39) |
missense |
unknown |
|
T0970:Tex2
|
UTSW |
11 |
106,437,772 (GRCm39) |
missense |
unknown |
|
Z1177:Tex2
|
UTSW |
11 |
106,424,834 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCTGAGGGGACAGAACATC -3'
(R):5'- GTGACAGCCGATCTTGTCTCTC -3'
Sequencing Primer
(F):5'- GGGACAGAACATCCACAAGTG -3'
(R):5'- ACAGCCGATCTTGTCTCTCCTTTTC -3'
|
Posted On |
2018-10-18 |